Incidental Mutation 'R7585:Rreb1'
| ID |
587087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rreb1
|
| Ensembl Gene |
ENSMUSG00000039087 |
| Gene Name |
ras responsive element binding protein 1 |
| Synonyms |
1110037N09Rik, B930013M22Rik |
| MMRRC Submission |
045635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R7585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
37962376-38135981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38077874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 29
(S29G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037232]
[ENSMUST00000110237]
[ENSMUST00000110238]
[ENSMUST00000122842]
[ENSMUST00000124373]
[ENSMUST00000128570]
[ENSMUST00000138043]
[ENSMUST00000138110]
[ENSMUST00000149745]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037232
AA Change: S29G
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: S29G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
66 |
88 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
97 |
119 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
125 |
147 |
3.49e-5 |
SMART |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
206 |
228 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
233 |
256 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
641 |
663 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
669 |
691 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
697 |
720 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
751 |
773 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
788 |
811 |
2.14e0 |
SMART |
|
low complexity region
|
916 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1083 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1251 |
1273 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
1279 |
1302 |
1.01e-1 |
SMART |
|
low complexity region
|
1324 |
1339 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1403 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1454 |
1476 |
6.13e-1 |
SMART |
|
low complexity region
|
1501 |
1516 |
N/A |
INTRINSIC |
|
low complexity region
|
1535 |
1548 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1574 |
1596 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
1602 |
1624 |
4.47e-3 |
SMART |
|
low complexity region
|
1636 |
1651 |
N/A |
INTRINSIC |
|
low complexity region
|
1692 |
1714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110237
AA Change: S29G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: S29G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
66 |
88 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
97 |
119 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
125 |
147 |
3.49e-5 |
SMART |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
206 |
228 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
233 |
256 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
641 |
663 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
669 |
691 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
697 |
720 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
751 |
773 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
788 |
811 |
2.14e0 |
SMART |
|
low complexity region
|
916 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1083 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1251 |
1273 |
1.5e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110238
AA Change: S29G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: S29G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
66 |
88 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
97 |
119 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
125 |
147 |
3.49e-5 |
SMART |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
206 |
228 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
233 |
256 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
641 |
663 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
669 |
691 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
697 |
720 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
751 |
773 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
788 |
811 |
2.14e0 |
SMART |
|
low complexity region
|
916 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1083 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1251 |
1273 |
1.5e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124373
AA Change: S29G
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128570
AA Change: S29G
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: S29G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
66 |
88 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
97 |
119 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
125 |
147 |
3.49e-5 |
SMART |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
206 |
228 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
233 |
256 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
641 |
663 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
669 |
691 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
697 |
720 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
751 |
773 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
788 |
811 |
2.14e0 |
SMART |
|
low complexity region
|
916 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1083 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1251 |
1273 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
1279 |
1302 |
1.01e-1 |
SMART |
|
low complexity region
|
1324 |
1339 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1403 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1454 |
1476 |
6.13e-1 |
SMART |
|
low complexity region
|
1501 |
1516 |
N/A |
INTRINSIC |
|
low complexity region
|
1535 |
1548 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1574 |
1596 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
1602 |
1624 |
4.47e-3 |
SMART |
|
low complexity region
|
1636 |
1651 |
N/A |
INTRINSIC |
|
low complexity region
|
1692 |
1714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138043
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138110
AA Change: S29G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149745
AA Change: S29G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: S29G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
66 |
88 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
97 |
119 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
125 |
147 |
3.49e-5 |
SMART |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
206 |
228 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
233 |
256 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
641 |
663 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
669 |
691 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
697 |
720 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
751 |
773 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
788 |
811 |
2.14e0 |
SMART |
|
low complexity region
|
916 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1083 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1251 |
1273 |
1.5e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,854,851 (GRCm39) |
T64A |
probably benign |
Het |
| A930009A15Rik |
T |
A |
10: 115,414,230 (GRCm39) |
V52D |
unknown |
Het |
| Aadacl2fm2 |
C |
A |
3: 59,651,143 (GRCm39) |
D88E |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,384,073 (GRCm39) |
I2201V |
probably damaging |
Het |
| Aco2 |
A |
C |
15: 81,756,685 (GRCm39) |
|
probably benign |
Het |
| Acod1 |
C |
T |
14: 103,292,177 (GRCm39) |
Q234* |
probably null |
Het |
| Actr6 |
T |
C |
10: 89,561,658 (GRCm39) |
S163G |
probably benign |
Het |
| Agmat |
T |
C |
4: 141,477,056 (GRCm39) |
V154A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,255,131 (GRCm39) |
N1584S |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,626,371 (GRCm39) |
S60C |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,482 (GRCm39) |
F98L |
probably damaging |
Het |
| Atp6v1f |
G |
A |
6: 29,467,927 (GRCm39) |
V38I |
possibly damaging |
Het |
| B3gnt3 |
T |
C |
8: 72,145,972 (GRCm39) |
T186A |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,292,007 (GRCm39) |
V351A |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,364,368 (GRCm39) |
S26P |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,229,287 (GRCm39) |
S515L |
probably damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,329,139 (GRCm39) |
A64E |
probably damaging |
Het |
| Ccdc89 |
C |
A |
7: 90,076,510 (GRCm39) |
T240K |
possibly damaging |
Het |
| Cercam |
T |
C |
2: 29,771,743 (GRCm39) |
L521P |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,076,737 (GRCm39) |
N561S |
probably benign |
Het |
| Clk3 |
T |
C |
9: 57,669,119 (GRCm39) |
E159G |
probably damaging |
Het |
| Cntf |
A |
T |
19: 12,741,587 (GRCm39) |
L91* |
probably null |
Het |
| Cntn4 |
T |
A |
6: 106,466,572 (GRCm39) |
I158N |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,888 (GRCm39) |
I194K |
probably damaging |
Het |
| Col22a1 |
T |
A |
15: 71,764,054 (GRCm39) |
D66V |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,485,471 (GRCm39) |
T145A |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,069,568 (GRCm39) |
I876V |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,971,819 (GRCm39) |
S1335P |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,402,014 (GRCm39) |
T3392S |
probably benign |
Het |
| Dnal1 |
A |
G |
12: 84,171,267 (GRCm39) |
K21E |
probably benign |
Het |
| Dspp |
T |
C |
5: 104,323,391 (GRCm39) |
V178A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,153,096 (GRCm39) |
D119G |
possibly damaging |
Het |
| Dyrk4 |
T |
A |
6: 126,867,007 (GRCm39) |
I342F |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,425,757 (GRCm39) |
D649G |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,191,124 (GRCm39) |
D259G |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,153,021 (GRCm39) |
V1159A |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,909,558 (GRCm39) |
D2148G |
probably benign |
Het |
| Fdps |
C |
A |
3: 89,001,113 (GRCm39) |
R300L |
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,315,540 (GRCm39) |
L736P |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,756,301 (GRCm39) |
T475S |
probably damaging |
Het |
| H2-M3 |
T |
G |
17: 37,581,599 (GRCm39) |
L87R |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,343,076 (GRCm39) |
I272F |
probably damaging |
Het |
| Hapln2 |
C |
T |
3: 87,929,980 (GRCm39) |
G299S |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,078,408 (GRCm39) |
I154N |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,352,829 (GRCm39) |
D2105G |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,658 (GRCm39) |
F413S |
probably damaging |
Het |
| Kctd13 |
A |
G |
7: 126,528,458 (GRCm39) |
T78A |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,758,591 (GRCm39) |
D20G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,744,061 (GRCm39) |
I1386F |
probably benign |
Het |
| Klc4 |
T |
A |
17: 46,942,810 (GRCm39) |
M585L |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,322,933 (GRCm39) |
Y1139C |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,654,094 (GRCm39) |
I1111N |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,050,807 (GRCm39) |
D648E |
possibly damaging |
Het |
| Mmp2 |
G |
A |
8: 93,563,564 (GRCm39) |
G346D |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,631,377 (GRCm39) |
I75L |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,586,076 (GRCm39) |
V537D |
|
Het |
| Myh2 |
T |
A |
11: 67,070,237 (GRCm39) |
|
probably null |
Het |
| Myrf |
T |
C |
19: 10,194,091 (GRCm39) |
T487A |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,753,050 (GRCm39) |
L312H |
probably damaging |
Het |
| Nop14 |
G |
A |
5: 34,802,124 (GRCm39) |
P560L |
probably damaging |
Het |
| Nufip1 |
C |
G |
14: 76,348,427 (GRCm39) |
P19A |
probably benign |
Het |
| Oosp3 |
G |
T |
19: 11,678,322 (GRCm39) |
M99I |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,880 (GRCm39) |
*337Q |
probably null |
Het |
| Or4c52 |
A |
T |
2: 89,845,393 (GRCm39) |
I40F |
probably damaging |
Het |
| Or4x13 |
T |
A |
2: 90,231,367 (GRCm39) |
Y121N |
probably damaging |
Het |
| Or51aa5 |
C |
A |
7: 103,167,166 (GRCm39) |
V142L |
possibly damaging |
Het |
| Or51k2 |
A |
G |
7: 103,596,607 (GRCm39) |
N278S |
probably benign |
Het |
| Or52n4b |
C |
A |
7: 108,144,598 (GRCm39) |
P289T |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,419,042 (GRCm39) |
V145A |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,040,307 (GRCm39) |
|
|
Het |
| Panx2 |
A |
G |
15: 88,952,169 (GRCm39) |
K212R |
probably damaging |
Het |
| Paxip1 |
A |
C |
5: 27,977,002 (GRCm39) |
H353Q |
unknown |
Het |
| Pbx4 |
C |
A |
8: 70,285,475 (GRCm39) |
D39E |
probably damaging |
Het |
| Phc2 |
G |
A |
4: 128,604,932 (GRCm39) |
A223T |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,445,608 (GRCm39) |
D21G |
probably benign |
Het |
| Plec |
G |
A |
15: 76,057,632 (GRCm39) |
R4102W |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,884,608 (GRCm39) |
Y774C |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,630,828 (GRCm39) |
Y1197N |
probably damaging |
Het |
| Psmg4 |
A |
T |
13: 34,347,195 (GRCm39) |
H46L |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,436,084 (GRCm39) |
Y815C |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,346,547 (GRCm39) |
I1426V |
probably benign |
Het |
| Rbm43 |
T |
C |
2: 51,816,763 (GRCm39) |
D68G |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,153,644 (GRCm39) |
S360P |
probably damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,267,588 (GRCm39) |
L1058R |
probably damaging |
Het |
| Scube1 |
C |
A |
15: 83,522,988 (GRCm39) |
R284L |
possibly damaging |
Het |
| Serpinb9h |
G |
T |
13: 33,588,299 (GRCm39) |
D295Y |
probably benign |
Het |
| Slc13a3 |
T |
C |
2: 165,272,242 (GRCm39) |
Q267R |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,596,685 (GRCm39) |
T16A |
probably benign |
Het |
| Slc5a1 |
A |
T |
5: 33,318,288 (GRCm39) |
N647I |
probably damaging |
Het |
| Sphk2 |
A |
T |
7: 45,361,006 (GRCm39) |
S333T |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,890,068 (GRCm39) |
D1050G |
probably benign |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,938,648 (GRCm39) |
C64S |
probably damaging |
Het |
| Trim47 |
T |
A |
11: 115,998,383 (GRCm39) |
E360D |
probably damaging |
Het |
| Trp53i13 |
T |
A |
11: 77,399,129 (GRCm39) |
T374S |
possibly damaging |
Het |
| Try5 |
A |
G |
6: 41,288,748 (GRCm39) |
L157P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,578,176 (GRCm39) |
V24239D |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,773,667 (GRCm39) |
Y2318C |
unknown |
Het |
| Txn1 |
T |
C |
4: 57,945,199 (GRCm39) |
D68G |
possibly damaging |
Het |
| Upf3a |
A |
G |
8: 13,837,418 (GRCm39) |
D121G |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,239 (GRCm39) |
Y747C |
probably damaging |
Het |
| Vmn2r68 |
A |
G |
7: 84,881,587 (GRCm39) |
W498R |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Zp2 |
A |
T |
7: 119,733,167 (GRCm39) |
F591L |
probably damaging |
Het |
|
| Other mutations in Rreb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Rreb1
|
APN |
13 |
38,100,472 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00336:Rreb1
|
APN |
13 |
38,113,622 (GRCm39) |
nonsense |
probably null |
|
|
IGL00473:Rreb1
|
APN |
13 |
38,114,767 (GRCm39) |
nonsense |
probably null |
|
|
IGL01338:Rreb1
|
APN |
13 |
38,115,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01836:Rreb1
|
APN |
13 |
38,115,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Rreb1
|
APN |
13 |
38,115,482 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02661:Rreb1
|
APN |
13 |
38,114,778 (GRCm39) |
nonsense |
probably null |
|
|
IGL02739:Rreb1
|
APN |
13 |
38,077,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03267:Rreb1
|
APN |
13 |
38,116,169 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03332:Rreb1
|
APN |
13 |
38,114,892 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03403:Rreb1
|
APN |
13 |
38,113,550 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0039:Rreb1
|
UTSW |
13 |
38,083,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0039:Rreb1
|
UTSW |
13 |
38,083,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Rreb1
|
UTSW |
13 |
38,115,518 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0265:Rreb1
|
UTSW |
13 |
38,100,131 (GRCm39) |
nonsense |
probably null |
|
|
R0635:Rreb1
|
UTSW |
13 |
38,125,540 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0939:Rreb1
|
UTSW |
13 |
38,116,207 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1099:Rreb1
|
UTSW |
13 |
38,132,867 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1438:Rreb1
|
UTSW |
13 |
38,114,581 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1457:Rreb1
|
UTSW |
13 |
38,130,904 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1510:Rreb1
|
UTSW |
13 |
38,115,860 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1672:Rreb1
|
UTSW |
13 |
38,114,513 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1772:Rreb1
|
UTSW |
13 |
38,114,899 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2171:Rreb1
|
UTSW |
13 |
38,114,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2371:Rreb1
|
UTSW |
13 |
38,100,513 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2566:Rreb1
|
UTSW |
13 |
38,113,768 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2571:Rreb1
|
UTSW |
13 |
38,083,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2862:Rreb1
|
UTSW |
13 |
38,116,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2874:Rreb1
|
UTSW |
13 |
38,100,484 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2911:Rreb1
|
UTSW |
13 |
38,132,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3722:Rreb1
|
UTSW |
13 |
38,131,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3767:Rreb1
|
UTSW |
13 |
38,113,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3770:Rreb1
|
UTSW |
13 |
38,113,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3885:Rreb1
|
UTSW |
13 |
38,077,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Rreb1
|
UTSW |
13 |
38,082,482 (GRCm39) |
splice site |
probably null |
|
|
R3887:Rreb1
|
UTSW |
13 |
38,077,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3888:Rreb1
|
UTSW |
13 |
38,077,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Rreb1
|
UTSW |
13 |
38,077,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4064:Rreb1
|
UTSW |
13 |
38,114,293 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4134:Rreb1
|
UTSW |
13 |
38,131,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4135:Rreb1
|
UTSW |
13 |
38,131,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4174:Rreb1
|
UTSW |
13 |
38,114,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4250:Rreb1
|
UTSW |
13 |
38,077,869 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4287:Rreb1
|
UTSW |
13 |
38,115,907 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4396:Rreb1
|
UTSW |
13 |
38,114,419 (GRCm39) |
nonsense |
probably null |
|
|
R4658:Rreb1
|
UTSW |
13 |
38,132,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Rreb1
|
UTSW |
13 |
38,100,502 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4856:Rreb1
|
UTSW |
13 |
38,115,034 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4886:Rreb1
|
UTSW |
13 |
38,115,034 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5092:Rreb1
|
UTSW |
13 |
38,112,254 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5122:Rreb1
|
UTSW |
13 |
38,114,744 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5405:Rreb1
|
UTSW |
13 |
38,133,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5408:Rreb1
|
UTSW |
13 |
38,115,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5446:Rreb1
|
UTSW |
13 |
38,082,473 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5641:Rreb1
|
UTSW |
13 |
38,131,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5859:Rreb1
|
UTSW |
13 |
38,131,385 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5859:Rreb1
|
UTSW |
13 |
38,131,384 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6429:Rreb1
|
UTSW |
13 |
38,116,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6678:Rreb1
|
UTSW |
13 |
38,083,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Rreb1
|
UTSW |
13 |
38,083,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Rreb1
|
UTSW |
13 |
38,125,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7188:Rreb1
|
UTSW |
13 |
38,100,544 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7387:Rreb1
|
UTSW |
13 |
38,131,040 (GRCm39) |
missense |
unknown |
|
|
R7453:Rreb1
|
UTSW |
13 |
38,125,545 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7492:Rreb1
|
UTSW |
13 |
38,115,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7621:Rreb1
|
UTSW |
13 |
38,133,042 (GRCm39) |
missense |
|
|
|
R7645:Rreb1
|
UTSW |
13 |
38,115,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Rreb1
|
UTSW |
13 |
38,114,362 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7670:Rreb1
|
UTSW |
13 |
38,115,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7701:Rreb1
|
UTSW |
13 |
38,114,092 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7708:Rreb1
|
UTSW |
13 |
38,113,546 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7874:Rreb1
|
UTSW |
13 |
38,131,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Rreb1
|
UTSW |
13 |
38,125,677 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8129:Rreb1
|
UTSW |
13 |
38,113,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8239:Rreb1
|
UTSW |
13 |
38,077,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Rreb1
|
UTSW |
13 |
38,131,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Rreb1
|
UTSW |
13 |
38,114,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8910:Rreb1
|
UTSW |
13 |
38,132,741 (GRCm39) |
missense |
|
|
|
R8992:Rreb1
|
UTSW |
13 |
38,114,352 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9064:Rreb1
|
UTSW |
13 |
38,115,326 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9087:Rreb1
|
UTSW |
13 |
38,115,644 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9130:Rreb1
|
UTSW |
13 |
38,114,282 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9582:Rreb1
|
UTSW |
13 |
38,114,734 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9602:Rreb1
|
UTSW |
13 |
38,114,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9774:Rreb1
|
UTSW |
13 |
38,114,185 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0024:Rreb1
|
UTSW |
13 |
38,115,556 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0026:Rreb1
|
UTSW |
13 |
38,115,968 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1088:Rreb1
|
UTSW |
13 |
38,132,913 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGTTGAACTAGGGCAAG -3'
(R):5'- CCTTTAGGCAGTGTGGGAAC -3'
Sequencing Primer
(F):5'- CTATGATTAGCACCACATGACTATG -3'
(R):5'- GCAGTGTGGGAACTTCTACTCTAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation