Incidental Mutation 'R2030:Gm4787'
ID |
221165 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4787
|
Ensembl Gene |
ENSMUSG00000072974 |
Gene Name |
predicted gene 4787 |
Synonyms |
|
MMRRC Submission |
040037-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R2030 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81378770 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 205
(V205I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
AlphaFold |
B2RUD9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062182
AA Change: V205I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000077390 Gene: ENSMUSG00000072974 AA Change: V205I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
46 |
163 |
1.5e-19 |
PFAM |
Pfam:Reprolysin
|
213 |
406 |
4.6e-18 |
PFAM |
DISIN
|
425 |
500 |
2e-33 |
SMART |
ACR
|
501 |
644 |
2.83e-53 |
SMART |
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110340
|
SMART Domains |
Protein: ENSMUSP00000105969 Gene: ENSMUSG00000091803
Domain | Start | End | E-Value | Type |
Pfam:COX16
|
16 |
74 |
6.6e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164386
|
SMART Domains |
Protein: ENSMUSP00000132941 Gene: ENSMUSG00000021139
Domain | Start | End | E-Value | Type |
PDZ
|
21 |
100 |
6.16e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166723
|
SMART Domains |
Protein: ENSMUSP00000130935 Gene: ENSMUSG00000091803
Domain | Start | End | E-Value | Type |
Pfam:COX16
|
16 |
73 |
6.9e-16 |
PFAM |
|
Meta Mutation Damage Score |
0.6467  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700022I11Rik |
C |
T |
4: 42,974,131 (GRCm38) |
Q1155* |
probably null |
Het |
Adtrp |
C |
T |
13: 41,828,259 (GRCm38) |
V13I |
probably damaging |
Het |
Ak2 |
A |
G |
4: 129,008,220 (GRCm38) |
K229E |
probably benign |
Het |
Atp13a4 |
A |
T |
16: 29,422,684 (GRCm38) |
V741D |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,061,189 (GRCm38) |
M896K |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,311,563 (GRCm38) |
R237C |
probably benign |
Het |
Cdk7 |
A |
G |
13: 100,722,674 (GRCm38) |
|
probably benign |
Het |
CK137956 |
A |
G |
4: 127,951,387 (GRCm38) |
S188P |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,731,751 (GRCm38) |
A524V |
probably benign |
Het |
Dbndd2 |
A |
G |
2: 164,488,643 (GRCm38) |
D72G |
probably damaging |
Het |
Disp3 |
A |
T |
4: 148,259,966 (GRCm38) |
I493N |
probably damaging |
Het |
Epx |
T |
C |
11: 87,864,824 (GRCm38) |
D678G |
probably damaging |
Het |
Fbxw5 |
G |
T |
2: 25,504,798 (GRCm38) |
V235L |
probably damaging |
Het |
Fmo4 |
T |
A |
1: 162,794,172 (GRCm38) |
D490V |
probably damaging |
Het |
Fuca2 |
A |
G |
10: 13,506,774 (GRCm38) |
Y268C |
probably damaging |
Het |
Gpat3 |
G |
A |
5: 100,897,821 (GRCm38) |
R437K |
probably benign |
Het |
Herc2 |
A |
G |
7: 56,184,373 (GRCm38) |
S3109G |
probably damaging |
Het |
Hr |
G |
A |
14: 70,571,448 (GRCm38) |
R1117H |
probably damaging |
Het |
Htra4 |
T |
A |
8: 25,033,577 (GRCm38) |
D324V |
probably damaging |
Het |
Kcnd3 |
A |
G |
3: 105,459,537 (GRCm38) |
Y241C |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,489,072 (GRCm38) |
L1072F |
probably damaging |
Het |
Lrrc52 |
T |
C |
1: 167,466,459 (GRCm38) |
N86D |
probably benign |
Het |
Mindy4 |
A |
G |
6: 55,211,262 (GRCm38) |
T26A |
probably damaging |
Het |
Mre11a |
A |
T |
9: 14,795,805 (GRCm38) |
N117Y |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,447,328 (GRCm38) |
S279T |
possibly damaging |
Het |
Myh13 |
T |
G |
11: 67,350,238 (GRCm38) |
S814A |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,176,715 (GRCm38) |
V679A |
possibly damaging |
Het |
Nipbl |
A |
T |
15: 8,350,287 (GRCm38) |
V1007D |
probably damaging |
Het |
Nlrp12 |
T |
A |
7: 3,228,417 (GRCm38) |
H960L |
probably damaging |
Het |
Olfr1245 |
C |
T |
2: 89,575,214 (GRCm38) |
V171I |
probably benign |
Het |
Olfr402 |
T |
A |
11: 74,155,943 (GRCm38) |
M263K |
possibly damaging |
Het |
Olfr860 |
A |
G |
9: 19,846,413 (GRCm38) |
S69P |
probably benign |
Het |
Pklr |
A |
G |
3: 89,143,238 (GRCm38) |
Y402C |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 143,132,764 (GRCm38) |
T1319A |
possibly damaging |
Het |
Rif1 |
T |
A |
2: 52,092,346 (GRCm38) |
V541E |
probably damaging |
Het |
Ryk |
T |
A |
9: 102,881,656 (GRCm38) |
I248N |
possibly damaging |
Het |
Shisa2 |
A |
T |
14: 59,629,685 (GRCm38) |
I129F |
probably damaging |
Het |
Snap25 |
T |
G |
2: 136,770,053 (GRCm38) |
|
probably benign |
Het |
Snx31 |
G |
A |
15: 36,525,702 (GRCm38) |
P284S |
probably benign |
Het |
Tas2r137 |
A |
G |
6: 40,492,220 (GRCm38) |
K328R |
possibly damaging |
Het |
Tas2r140 |
T |
C |
6: 133,055,250 (GRCm38) |
T182A |
probably benign |
Het |
Thumpd2 |
G |
A |
17: 81,064,958 (GRCm38) |
R35C |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,718,469 (GRCm38) |
N3811Y |
probably damaging |
Het |
Tpte |
A |
C |
8: 22,345,885 (GRCm38) |
N428T |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,854,265 (GRCm38) |
D1498G |
probably benign |
Het |
Tsc2 |
C |
T |
17: 24,623,470 (GRCm38) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,872,933 (GRCm38) |
|
probably benign |
Het |
Wdr24 |
A |
G |
17: 25,826,043 (GRCm38) |
I251V |
probably benign |
Het |
Wdr92 |
A |
T |
11: 17,229,832 (GRCm38) |
T278S |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 129,006,086 (GRCm38) |
Y278H |
probably damaging |
Het |
Zfat |
A |
G |
15: 68,118,934 (GRCm38) |
|
probably null |
Het |
Zfp442 |
A |
T |
2: 150,408,122 (GRCm38) |
V620E |
possibly damaging |
Het |
Zfp788 |
A |
G |
7: 41,649,560 (GRCm38) |
H540R |
probably damaging |
Het |
|
Other mutations in Gm4787 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01719:Gm4787
|
APN |
12 |
81,377,174 (GRCm38) |
missense |
possibly damaging |
0.50 |
IGL01916:Gm4787
|
APN |
12 |
81,377,444 (GRCm38) |
missense |
probably benign |
0.36 |
IGL02193:Gm4787
|
APN |
12 |
81,378,528 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02623:Gm4787
|
APN |
12 |
81,378,728 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02681:Gm4787
|
APN |
12 |
81,378,769 (GRCm38) |
missense |
possibly damaging |
0.88 |
IGL03257:Gm4787
|
APN |
12 |
81,378,052 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03410:Gm4787
|
APN |
12 |
81,379,174 (GRCm38) |
missense |
probably damaging |
1.00 |
F5770:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,377,175 (GRCm38) |
missense |
probably benign |
|
R0070:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
R0128:Gm4787
|
UTSW |
12 |
81,377,747 (GRCm38) |
nonsense |
probably null |
|
R0220:Gm4787
|
UTSW |
12 |
81,378,648 (GRCm38) |
missense |
probably damaging |
0.98 |
R0304:Gm4787
|
UTSW |
12 |
81,378,934 (GRCm38) |
missense |
probably damaging |
1.00 |
R0513:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
R1761:Gm4787
|
UTSW |
12 |
81,377,176 (GRCm38) |
missense |
probably benign |
0.02 |
R1809:Gm4787
|
UTSW |
12 |
81,378,529 (GRCm38) |
missense |
possibly damaging |
0.91 |
R1853:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
R1854:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
R2063:Gm4787
|
UTSW |
12 |
81,378,920 (GRCm38) |
missense |
probably benign |
0.39 |
R2112:Gm4787
|
UTSW |
12 |
81,377,833 (GRCm38) |
missense |
probably damaging |
1.00 |
R2140:Gm4787
|
UTSW |
12 |
81,378,562 (GRCm38) |
missense |
probably benign |
0.03 |
R2151:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
R2152:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
R2342:Gm4787
|
UTSW |
12 |
81,378,758 (GRCm38) |
missense |
possibly damaging |
0.91 |
R2504:Gm4787
|
UTSW |
12 |
81,379,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
R4038:Gm4787
|
UTSW |
12 |
81,378,358 (GRCm38) |
missense |
probably damaging |
1.00 |
R4604:Gm4787
|
UTSW |
12 |
81,379,213 (GRCm38) |
missense |
probably benign |
0.17 |
R4748:Gm4787
|
UTSW |
12 |
81,378,056 (GRCm38) |
missense |
probably damaging |
1.00 |
R4750:Gm4787
|
UTSW |
12 |
81,378,367 (GRCm38) |
missense |
possibly damaging |
0.95 |
R4928:Gm4787
|
UTSW |
12 |
81,378,838 (GRCm38) |
missense |
probably benign |
0.03 |
R4960:Gm4787
|
UTSW |
12 |
81,379,316 (GRCm38) |
missense |
probably damaging |
0.99 |
R4974:Gm4787
|
UTSW |
12 |
81,377,629 (GRCm38) |
missense |
probably damaging |
0.99 |
R5028:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5029:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5031:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5098:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5099:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5100:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5101:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5135:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5152:Gm4787
|
UTSW |
12 |
81,378,677 (GRCm38) |
missense |
probably benign |
0.02 |
R5180:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5220:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5257:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5258:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5297:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5324:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5325:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5355:Gm4787
|
UTSW |
12 |
81,377,465 (GRCm38) |
nonsense |
probably null |
|
R5364:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5396:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5397:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5398:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5514:Gm4787
|
UTSW |
12 |
81,378,328 (GRCm38) |
missense |
possibly damaging |
0.90 |
R5634:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5666:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
R5670:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
R5787:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R5788:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
R6354:Gm4787
|
UTSW |
12 |
81,377,981 (GRCm38) |
missense |
probably damaging |
1.00 |
R6932:Gm4787
|
UTSW |
12 |
81,379,200 (GRCm38) |
missense |
probably benign |
0.04 |
R7120:Gm4787
|
UTSW |
12 |
81,378,486 (GRCm38) |
missense |
probably benign |
0.00 |
R7237:Gm4787
|
UTSW |
12 |
81,377,668 (GRCm38) |
missense |
probably damaging |
0.99 |
R7937:Gm4787
|
UTSW |
12 |
81,377,905 (GRCm38) |
missense |
probably benign |
0.01 |
R8022:Gm4787
|
UTSW |
12 |
81,377,720 (GRCm38) |
missense |
possibly damaging |
0.94 |
R8140:Gm4787
|
UTSW |
12 |
81,378,151 (GRCm38) |
missense |
probably benign |
0.00 |
R8314:Gm4787
|
UTSW |
12 |
81,379,135 (GRCm38) |
missense |
probably damaging |
1.00 |
R8480:Gm4787
|
UTSW |
12 |
81,377,506 (GRCm38) |
missense |
probably damaging |
1.00 |
R8498:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
R8515:Gm4787
|
UTSW |
12 |
81,377,269 (GRCm38) |
missense |
probably benign |
0.00 |
R9103:Gm4787
|
UTSW |
12 |
81,378,715 (GRCm38) |
missense |
probably benign |
0.06 |
R9457:Gm4787
|
UTSW |
12 |
81,379,246 (GRCm38) |
missense |
probably damaging |
1.00 |
R9557:Gm4787
|
UTSW |
12 |
81,379,300 (GRCm38) |
nonsense |
probably null |
|
R9608:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
V7580:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
V7581:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
V7582:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGTCATTCCAAATACACGCAG -3'
(R):5'- CTGGAGGTCTGAAAGGCATG -3'
Sequencing Primer
(F):5'- GCACGCGCGAACACAAAC -3'
(R):5'- GCATGATACAGGTAGATGACTTCAC -3'
|
Posted On |
2014-08-25 |