Incidental Mutation 'R6736:Rgs12'
| ID |
528403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs12
|
| Ensembl Gene |
ENSMUSG00000029101 |
| Gene Name |
regulator of G-protein signaling 12 |
| Synonyms |
4632412M04Rik, 1200016K18Rik |
| MMRRC Submission |
044854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R6736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
35106789-35196988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35180436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 27
(K27E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030984]
[ENSMUST00000087684]
[ENSMUST00000114280]
[ENSMUST00000114281]
[ENSMUST00000114283]
[ENSMUST00000114284]
[ENSMUST00000114285]
[ENSMUST00000156339]
[ENSMUST00000225237]
|
| AlphaFold |
Q8CGE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030984
AA Change: K891E
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: K891E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
98 |
5.25e-18 |
SMART |
|
PTB
|
224 |
373 |
5.05e-28 |
SMART |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
RGS
|
715 |
832 |
2.84e-41 |
SMART |
|
low complexity region
|
849 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
928 |
N/A |
INTRINSIC |
|
RBD
|
962 |
1032 |
3.12e-28 |
SMART |
|
RBD
|
1034 |
1104 |
2.44e-21 |
SMART |
|
GoLoco
|
1187 |
1209 |
9.74e-9 |
SMART |
|
low complexity region
|
1259 |
1280 |
N/A |
INTRINSIC |
|
low complexity region
|
1292 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087684
AA Change: K891E
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: K891E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
98 |
5.25e-18 |
SMART |
|
PTB
|
224 |
373 |
5.05e-28 |
SMART |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
RGS
|
715 |
832 |
2.84e-41 |
SMART |
|
Pfam:RGS12_us1
|
836 |
953 |
4.3e-61 |
PFAM |
|
RBD
|
962 |
1032 |
3.12e-28 |
SMART |
|
RBD
|
1034 |
1104 |
2.44e-21 |
SMART |
|
Pfam:RGS12_us2
|
1106 |
1180 |
2.4e-37 |
PFAM |
|
GoLoco
|
1187 |
1209 |
9.74e-9 |
SMART |
|
Pfam:RGS12_usC
|
1238 |
1379 |
9.2e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114280
AA Change: K233E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101
AA Change: K233E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
RGS
|
57 |
174 |
2.84e-41 |
SMART |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
270 |
N/A |
INTRINSIC |
|
RBD
|
304 |
374 |
3.12e-28 |
SMART |
|
RBD
|
376 |
446 |
2.44e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114281
AA Change: K233E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: K233E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
RGS
|
57 |
174 |
2.84e-41 |
SMART |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
270 |
N/A |
INTRINSIC |
|
RBD
|
304 |
374 |
3.12e-28 |
SMART |
|
RBD
|
376 |
446 |
2.44e-21 |
SMART |
|
GoLoco
|
529 |
551 |
9.74e-9 |
SMART |
|
low complexity region
|
601 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114283
AA Change: K233E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: K233E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
RGS
|
57 |
174 |
2.84e-41 |
SMART |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
270 |
N/A |
INTRINSIC |
|
RBD
|
304 |
374 |
3.12e-28 |
SMART |
|
RBD
|
376 |
446 |
2.44e-21 |
SMART |
|
GoLoco
|
529 |
551 |
9.74e-9 |
SMART |
|
low complexity region
|
601 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
729 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114284
AA Change: K243E
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: K243E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
|
RGS
|
67 |
184 |
2.84e-41 |
SMART |
|
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
280 |
N/A |
INTRINSIC |
|
RBD
|
314 |
384 |
3.12e-28 |
SMART |
|
RBD
|
386 |
456 |
2.44e-21 |
SMART |
|
GoLoco
|
539 |
561 |
9.74e-9 |
SMART |
|
low complexity region
|
611 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
730 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114285
AA Change: K243E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: K243E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
|
RGS
|
67 |
184 |
2.84e-41 |
SMART |
|
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
280 |
N/A |
INTRINSIC |
|
RBD
|
314 |
384 |
3.12e-28 |
SMART |
|
RBD
|
386 |
456 |
2.44e-21 |
SMART |
|
GoLoco
|
539 |
561 |
9.74e-9 |
SMART |
|
low complexity region
|
611 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
739 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156339
AA Change: K90E
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115064
Gene: ENSMUSG00000029101
AA Change: K90E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RGS
|
1 |
30 |
1.3e-7 |
PFAM |
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201936
AA Change: K27E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156819
|
| SMART Domains |
Protein: ENSMUSP00000116913
Gene: ENSMUSG00000029101
| Domain | Start | End | E-Value | Type |
|---|
|
RBD
|
21 |
91 |
3.12e-28 |
SMART |
|
RBD
|
93 |
163 |
2.44e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175356
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150139
|
| SMART Domains |
Protein: ENSMUSP00000117158
Gene: ENSMUSG00000029101
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RBD
|
2 |
33 |
5e-13 |
BLAST |
|
Pfam:RGS12_us2
|
35 |
80 |
5.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128161
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,211,100 (GRCm39) |
I83T |
probably benign |
Het |
| Aadacl4 |
T |
G |
4: 144,349,909 (GRCm39) |
S389A |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,415,058 (GRCm39) |
S4042C |
probably damaging |
Het |
| Acaca |
G |
A |
11: 84,129,664 (GRCm39) |
V340I |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,746,198 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
C |
11: 54,215,992 (GRCm39) |
E124A |
probably damaging |
Het |
| Adamtsl1 |
T |
A |
4: 86,260,484 (GRCm39) |
H898Q |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,575,329 (GRCm39) |
S603P |
probably damaging |
Het |
| Apobec1 |
A |
T |
6: 122,558,634 (GRCm39) |
M31K |
probably null |
Het |
| Astn1 |
T |
C |
1: 158,338,718 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
G |
T |
5: 67,824,960 (GRCm39) |
D790E |
probably damaging |
Het |
| Bahd1 |
T |
G |
2: 118,746,456 (GRCm39) |
M25R |
possibly damaging |
Het |
| BC034090 |
A |
T |
1: 155,117,676 (GRCm39) |
N147K |
possibly damaging |
Het |
| Bfsp2 |
G |
T |
9: 103,357,403 (GRCm39) |
A8E |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,869,772 (GRCm39) |
I85N |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,845,278 (GRCm39) |
Y99* |
probably null |
Het |
| Ccdc24 |
T |
A |
4: 117,727,732 (GRCm39) |
N145I |
possibly damaging |
Het |
| Cdhr5 |
G |
T |
7: 140,852,444 (GRCm39) |
Q141K |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,199,887 (GRCm39) |
V1998A |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,052,626 (GRCm39) |
Y2166F |
probably damaging |
Het |
| Cul4a |
T |
G |
8: 13,186,219 (GRCm39) |
S474A |
probably benign |
Het |
| Cutal |
A |
G |
2: 34,778,149 (GRCm39) |
T112A |
probably benign |
Het |
| Dcaf6 |
A |
C |
1: 165,227,354 (GRCm39) |
S258A |
possibly damaging |
Het |
| Dek |
C |
T |
13: 47,252,866 (GRCm39) |
V180M |
probably damaging |
Het |
| Dspp |
C |
A |
5: 104,326,041 (GRCm39) |
D801E |
unknown |
Het |
| Egflam |
T |
C |
15: 7,249,206 (GRCm39) |
T871A |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,971,274 (GRCm39) |
S781T |
possibly damaging |
Het |
| Erich6 |
A |
T |
3: 58,532,475 (GRCm39) |
H377Q |
probably damaging |
Het |
| Exo5 |
C |
A |
4: 120,778,953 (GRCm39) |
G304V |
probably damaging |
Het |
| Eya2 |
C |
A |
2: 165,557,957 (GRCm39) |
S184R |
possibly damaging |
Het |
| Fhod1 |
G |
A |
8: 106,064,522 (GRCm39) |
|
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,084,496 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,432,995 (GRCm39) |
D318G |
probably benign |
Het |
| Gm10300 |
T |
C |
4: 131,802,246 (GRCm39) |
|
probably benign |
Het |
| Gm11937 |
A |
G |
11: 99,500,900 (GRCm39) |
V39A |
probably damaging |
Het |
| Gnas |
T |
C |
2: 174,176,044 (GRCm39) |
M60T |
probably damaging |
Het |
| Grk5 |
G |
T |
19: 60,879,064 (GRCm39) |
R16L |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,059,981 (GRCm39) |
L221P |
probably damaging |
Het |
| Hddc3 |
G |
A |
7: 79,992,944 (GRCm39) |
R20Q |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,415,788 (GRCm39) |
Y530H |
possibly damaging |
Het |
| Igf2bp1 |
A |
T |
11: 95,863,948 (GRCm39) |
H247Q |
probably benign |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,912 (GRCm39) |
D103V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,226,668 (GRCm39) |
M1359L |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,038,293 (GRCm39) |
L1013S |
probably damaging |
Het |
| Kctd21 |
C |
T |
7: 96,997,291 (GRCm39) |
R255W |
probably damaging |
Het |
| Krt18 |
T |
A |
15: 101,939,204 (GRCm39) |
Y263N |
probably benign |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Larp1 |
G |
A |
11: 57,933,473 (GRCm39) |
|
probably null |
Het |
| Lmnb1 |
A |
G |
18: 56,861,541 (GRCm39) |
N144S |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,278,555 (GRCm39) |
T3933S |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,679,008 (GRCm39) |
N363S |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,017,750 (GRCm39) |
|
probably null |
Het |
| Mafa |
C |
A |
15: 75,619,629 (GRCm39) |
G48V |
unknown |
Het |
| Mboat4 |
T |
C |
8: 34,591,675 (GRCm39) |
S371P |
possibly damaging |
Het |
| Mei4 |
A |
T |
9: 81,907,677 (GRCm39) |
M237L |
probably benign |
Het |
| Mfsd2a |
T |
C |
4: 122,845,054 (GRCm39) |
D219G |
probably benign |
Het |
| Msl2 |
A |
G |
9: 100,978,201 (GRCm39) |
N192D |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,429,003 (GRCm39) |
R2358M |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,636,165 (GRCm39) |
T185A |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,822,352 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,350,298 (GRCm39) |
T2281A |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,223,586 (GRCm39) |
V486F |
probably damaging |
Het |
| Or12j4 |
T |
C |
7: 140,046,800 (GRCm39) |
S229P |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,834 (GRCm39) |
C240F |
probably damaging |
Het |
| Or1e1c |
G |
T |
11: 73,266,402 (GRCm39) |
V276F |
probably benign |
Het |
| Or4q3 |
A |
T |
14: 50,582,905 (GRCm39) |
N300K |
probably damaging |
Het |
| Or5an10 |
G |
A |
19: 12,275,936 (GRCm39) |
Q187* |
probably null |
Het |
| Or5d20-ps1 |
C |
A |
2: 87,931,947 (GRCm39) |
C128F |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,866 (GRCm39) |
I19N |
probably damaging |
Het |
| Or8g30 |
A |
G |
9: 39,230,089 (GRCm39) |
S274P |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,121,899 (GRCm39) |
S283T |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,479,056 (GRCm39) |
|
probably null |
Het |
| Piwil4 |
A |
G |
9: 14,627,119 (GRCm39) |
F424L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Ptpn7 |
C |
T |
1: 135,066,974 (GRCm39) |
P277L |
probably benign |
Het |
| Rp1l1 |
G |
T |
14: 64,267,173 (GRCm39) |
A920S |
possibly damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,113,222 (GRCm39) |
H433Q |
probably benign |
Het |
| Safb |
C |
A |
17: 56,913,023 (GRCm39) |
P913Q |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,854 (GRCm39) |
V477M |
probably damaging |
Het |
| Serpina16 |
T |
A |
12: 103,635,191 (GRCm39) |
T408S |
possibly damaging |
Het |
| Six5 |
G |
A |
7: 18,828,916 (GRCm39) |
V119M |
possibly damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,452 (GRCm39) |
P11S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,756,389 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,515,274 (GRCm39) |
I420F |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,659,954 (GRCm39) |
D982G |
possibly damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,761 (GRCm39) |
F891I |
probably damaging |
Het |
| Sugp1 |
A |
G |
8: 70,511,953 (GRCm39) |
E183G |
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,119 (GRCm39) |
|
probably null |
Het |
| Tapbp |
T |
C |
17: 34,138,931 (GRCm39) |
S33P |
possibly damaging |
Het |
| Ubap2 |
CT |
CTTGCCCCGGT |
4: 41,227,224 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
GCCCGCTTGCCCCGCT |
GCCCGCTTGCCCCGCTTGCCCCGCT |
4: 41,227,210 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,450,389 (GRCm39) |
T355A |
probably benign |
Het |
| Usp16 |
T |
G |
16: 87,267,285 (GRCm39) |
V225G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,497,047 (GRCm39) |
V2454A |
probably benign |
Het |
| Vmn1r191 |
G |
T |
13: 22,363,720 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,697,282 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
| Zfp143 |
T |
C |
7: 109,691,021 (GRCm39) |
M524T |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,140 (GRCm39) |
C342R |
probably damaging |
Het |
| Zfp777 |
T |
G |
6: 48,001,790 (GRCm39) |
K811Q |
probably damaging |
Het |
| Zfp870 |
T |
A |
17: 33,102,570 (GRCm39) |
H254L |
probably benign |
Het |
|
| Other mutations in Rgs12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Rgs12
|
APN |
5 |
35,132,563 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02296:Rgs12
|
APN |
5 |
35,123,464 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02337:Rgs12
|
APN |
5 |
35,177,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Rgs12
|
APN |
5 |
35,187,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Rgs12
|
APN |
5 |
35,183,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02989:Rgs12
|
APN |
5 |
35,122,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Rgs12
|
UTSW |
5 |
35,180,120 (GRCm39) |
unclassified |
probably benign |
|
|
R0015:Rgs12
|
UTSW |
5 |
35,180,120 (GRCm39) |
unclassified |
probably benign |
|
|
R0046:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Rgs12
|
UTSW |
5 |
35,124,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0106:Rgs12
|
UTSW |
5 |
35,124,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0233:Rgs12
|
UTSW |
5 |
35,187,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Rgs12
|
UTSW |
5 |
35,187,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Rgs12
|
UTSW |
5 |
35,187,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0611:Rgs12
|
UTSW |
5 |
35,176,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Rgs12
|
UTSW |
5 |
35,180,466 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0723:Rgs12
|
UTSW |
5 |
35,181,710 (GRCm39) |
unclassified |
probably benign |
|
|
R1174:Rgs12
|
UTSW |
5 |
35,123,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1538:Rgs12
|
UTSW |
5 |
35,178,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1556:Rgs12
|
UTSW |
5 |
35,196,626 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1774:Rgs12
|
UTSW |
5 |
35,123,747 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1791:Rgs12
|
UTSW |
5 |
35,123,456 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1866:Rgs12
|
UTSW |
5 |
35,123,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Rgs12
|
UTSW |
5 |
35,123,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Rgs12
|
UTSW |
5 |
35,189,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Rgs12
|
UTSW |
5 |
35,187,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2107:Rgs12
|
UTSW |
5 |
35,124,079 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3730:Rgs12
|
UTSW |
5 |
35,189,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3731:Rgs12
|
UTSW |
5 |
35,189,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Rgs12
|
UTSW |
5 |
35,189,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3827:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3829:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3830:Rgs12
|
UTSW |
5 |
35,123,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4392:Rgs12
|
UTSW |
5 |
35,189,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Rgs12
|
UTSW |
5 |
35,177,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Rgs12
|
UTSW |
5 |
35,147,156 (GRCm39) |
intron |
probably benign |
|
|
R5213:Rgs12
|
UTSW |
5 |
35,122,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Rgs12
|
UTSW |
5 |
35,178,448 (GRCm39) |
unclassified |
probably benign |
|
|
R5480:Rgs12
|
UTSW |
5 |
35,123,455 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5510:Rgs12
|
UTSW |
5 |
35,123,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Rgs12
|
UTSW |
5 |
35,123,696 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5987:Rgs12
|
UTSW |
5 |
35,177,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Rgs12
|
UTSW |
5 |
35,123,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6113:Rgs12
|
UTSW |
5 |
35,177,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6401:Rgs12
|
UTSW |
5 |
35,177,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Rgs12
|
UTSW |
5 |
35,180,515 (GRCm39) |
missense |
probably null |
0.27 |
|
R6857:Rgs12
|
UTSW |
5 |
35,187,366 (GRCm39) |
nonsense |
probably null |
|
|
R7082:Rgs12
|
UTSW |
5 |
35,124,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Rgs12
|
UTSW |
5 |
35,122,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Rgs12
|
UTSW |
5 |
35,183,715 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7444:Rgs12
|
UTSW |
5 |
35,183,287 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7632:Rgs12
|
UTSW |
5 |
35,122,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Rgs12
|
UTSW |
5 |
35,183,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8089:Rgs12
|
UTSW |
5 |
35,177,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Rgs12
|
UTSW |
5 |
35,123,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:Rgs12
|
UTSW |
5 |
35,186,915 (GRCm39) |
missense |
|
|
|
R8927:Rgs12
|
UTSW |
5 |
35,123,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8928:Rgs12
|
UTSW |
5 |
35,123,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9073:Rgs12
|
UTSW |
5 |
35,177,753 (GRCm39) |
unclassified |
probably benign |
|
|
R9211:Rgs12
|
UTSW |
5 |
35,123,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9485:Rgs12
|
UTSW |
5 |
35,189,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9550:Rgs12
|
UTSW |
5 |
35,196,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Rgs12
|
UTSW |
5 |
35,123,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rgs12
|
UTSW |
5 |
35,183,696 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Rgs12
|
UTSW |
5 |
35,122,198 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGAGGACTGTGCCCTTG -3'
(R):5'- CAGGATCTGTGACATTTCTTCATCC -3'
Sequencing Primer
(F):5'- TGACCCACTGAAGATTCTACCTG -3'
(R):5'- AGATAACTCCGCTGTATCTCTGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation