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 |
Incidental Mutation