Incidental Mutation 'R3551:Zfp692'
| ID |
268352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp692
|
| Ensembl Gene |
ENSMUSG00000037243 |
| Gene Name |
zinc finger protein 692 |
| Synonyms |
Zfp692-ps |
| MMRRC Submission |
040668-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58197895-58205453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58200254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 170
(T170I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000153510]
|
| AlphaFold |
Q3U381 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049353
AA Change: T170I
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243
AA Change: T170I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
352 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
358 |
382 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
6.23e-2 |
SMART |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153510
AA Change: T170I
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243
AA Change: T170I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
352 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
358 |
382 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
6.23e-2 |
SMART |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
| Adam24 |
G |
C |
8: 41,132,632 (GRCm39) |
W33C |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,564,599 (GRCm39) |
V327E |
probably damaging |
Het |
| Aqp7 |
T |
A |
4: 41,045,329 (GRCm39) |
N17I |
probably benign |
Het |
| Bicra |
T |
A |
7: 15,713,658 (GRCm39) |
Q848L |
probably benign |
Het |
| C4b |
T |
C |
17: 34,960,846 (GRCm39) |
E240G |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,508,842 (GRCm39) |
N50I |
probably damaging |
Het |
| Dcaf7 |
A |
G |
11: 105,945,622 (GRCm39) |
T324A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,492,929 (GRCm39) |
R1230H |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,584,813 (GRCm39) |
V176M |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,039,141 (GRCm39) |
I339T |
probably damaging |
Het |
| Edc4 |
A |
T |
8: 106,612,126 (GRCm39) |
I138F |
probably damaging |
Het |
| Ercc6l2 |
T |
A |
13: 63,992,409 (GRCm39) |
V401E |
probably damaging |
Het |
| Gm3269 |
T |
A |
14: 16,033,003 (GRCm39) |
V260D |
possibly damaging |
Het |
| Gm4076 |
C |
T |
13: 85,275,269 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4922 |
A |
T |
10: 18,660,244 (GRCm39) |
N159K |
probably benign |
Het |
| Gm5134 |
G |
T |
10: 75,836,281 (GRCm39) |
A421S |
probably benign |
Het |
| Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
| Ipo4 |
A |
G |
14: 55,870,560 (GRCm39) |
V288A |
probably benign |
Het |
| Kng2 |
A |
G |
16: 22,830,745 (GRCm39) |
|
probably null |
Het |
| Lrfn1 |
T |
C |
7: 28,159,479 (GRCm39) |
L466P |
possibly damaging |
Het |
| Magi1 |
T |
A |
6: 93,676,610 (GRCm39) |
K916N |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,938,237 (GRCm39) |
T720A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
| Npas2 |
A |
T |
1: 39,326,643 (GRCm39) |
M43L |
probably benign |
Het |
| Nup43 |
A |
G |
10: 7,550,778 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
| Pear1 |
A |
G |
3: 87,665,439 (GRCm39) |
F145L |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,569,302 (GRCm39) |
S355P |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,985,963 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
T |
C |
5: 21,194,047 (GRCm39) |
K742E |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
| Sema4c |
G |
C |
1: 36,592,804 (GRCm39) |
T138S |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,635,099 (GRCm39) |
T168M |
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
| Spice1 |
G |
T |
16: 44,178,232 (GRCm39) |
S85I |
probably damaging |
Het |
| Thrb |
T |
A |
14: 17,963,214 (GRCm38) |
I59N |
probably damaging |
Het |
| Trav7-1 |
A |
G |
14: 52,892,756 (GRCm39) |
D103G |
probably damaging |
Het |
| Ubap2l |
G |
T |
3: 89,922,758 (GRCm39) |
T766N |
unknown |
Het |
| Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
| Zfp759 |
T |
C |
13: 67,287,031 (GRCm39) |
V194A |
probably benign |
Het |
|
| Other mutations in Zfp692 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Zfp692
|
APN |
11 |
58,200,824 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00978:Zfp692
|
APN |
11 |
58,204,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01667:Zfp692
|
APN |
11 |
58,202,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02209:Zfp692
|
APN |
11 |
58,204,824 (GRCm39) |
nonsense |
probably null |
|
|
IGL02873:Zfp692
|
APN |
11 |
58,199,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Zfp692
|
UTSW |
11 |
58,201,229 (GRCm39) |
splice site |
probably benign |
|
|
R0267:Zfp692
|
UTSW |
11 |
58,205,140 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0506:Zfp692
|
UTSW |
11 |
58,199,881 (GRCm39) |
nonsense |
probably null |
|
|
R0554:Zfp692
|
UTSW |
11 |
58,205,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Zfp692
|
UTSW |
11 |
58,200,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0712:Zfp692
|
UTSW |
11 |
58,205,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1112:Zfp692
|
UTSW |
11 |
58,202,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Zfp692
|
UTSW |
11 |
58,204,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Zfp692
|
UTSW |
11 |
58,201,002 (GRCm39) |
splice site |
probably benign |
|
|
R1853:Zfp692
|
UTSW |
11 |
58,200,805 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3552:Zfp692
|
UTSW |
11 |
58,200,254 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4281:Zfp692
|
UTSW |
11 |
58,205,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Zfp692
|
UTSW |
11 |
58,200,997 (GRCm39) |
missense |
probably null |
0.12 |
|
R5150:Zfp692
|
UTSW |
11 |
58,198,413 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R7035:Zfp692
|
UTSW |
11 |
58,200,268 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7343:Zfp692
|
UTSW |
11 |
58,202,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Zfp692
|
UTSW |
11 |
58,205,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Zfp692
|
UTSW |
11 |
58,198,560 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8163:Zfp692
|
UTSW |
11 |
58,201,199 (GRCm39) |
splice site |
probably null |
|
|
R9043:Zfp692
|
UTSW |
11 |
58,198,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9487:Zfp692
|
UTSW |
11 |
58,199,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Zfp692
|
UTSW |
11 |
58,199,638 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1186:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1187:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1188:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1189:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1190:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1191:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1192:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTGCTAGGTATGGGAAGC -3'
(R):5'- AATCCCAACTGGCTCATCTG -3'
Sequencing Primer
(F):5'- CTAGGTATGGGAAGCAAAAGTGTG -3'
(R):5'- AACTGGCTCATCTGGGGAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation