Incidental Mutation 'R0128:Gm4787'
| ID |
21522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
038413-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0128 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 81377747 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 546
(K546*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
| AlphaFold |
B2RUD9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062182
AA Change: K546*
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: K546*
| 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 |
noncoding transcript
Transcript: ENSMUST00000087222
|
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.6%
- 10x: 93.0%
- 20x: 79.3%
|
| Validation Efficiency |
99% (84/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,575,639 (GRCm38) |
|
probably benign |
Het |
| Abcd4 |
T |
G |
12: 84,612,352 (GRCm38) |
Q210P |
possibly damaging |
Het |
| Ablim2 |
G |
A |
5: 35,809,176 (GRCm38) |
|
probably benign |
Het |
| Actl6b |
A |
G |
5: 137,555,065 (GRCm38) |
N113S |
probably benign |
Het |
| Actn3 |
A |
T |
19: 4,871,615 (GRCm38) |
V179E |
probably damaging |
Het |
| Aff4 |
C |
A |
11: 53,415,466 (GRCm38) |
T1145N |
probably damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,591,859 (GRCm38) |
Q431* |
probably null |
Het |
| Anxa9 |
A |
G |
3: 95,302,422 (GRCm38) |
S129P |
probably benign |
Het |
| Arfgef2 |
T |
G |
2: 166,835,719 (GRCm38) |
I88S |
probably damaging |
Het |
| Asap3 |
C |
A |
4: 136,234,604 (GRCm38) |
N285K |
probably damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,713,184 (GRCm38) |
N477S |
probably damaging |
Het |
| Atp7b |
C |
T |
8: 22,028,172 (GRCm38) |
E205K |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,715 (GRCm38) |
|
probably null |
Het |
| C87436 |
G |
A |
6: 86,469,827 (GRCm38) |
G533D |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,528,360 (GRCm38) |
I314N |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,825,626 (GRCm38) |
F237S |
probably damaging |
Het |
| Ccz1 |
T |
G |
5: 144,009,294 (GRCm38) |
|
probably benign |
Het |
| Cdcp2 |
C |
T |
4: 107,106,707 (GRCm38) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,393,567 (GRCm38) |
N531S |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,635,007 (GRCm38) |
F476I |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm38) |
P568L |
unknown |
Het |
| Cped1 |
T |
A |
6: 22,121,039 (GRCm38) |
Y373N |
probably benign |
Het |
| Cr2 |
A |
T |
1: 195,166,231 (GRCm38) |
V328D |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,149,771 (GRCm38) |
|
probably benign |
Het |
| Dcdc2a |
A |
T |
13: 25,187,672 (GRCm38) |
|
probably benign |
Het |
| Dlg1 |
G |
T |
16: 31,858,065 (GRCm38) |
|
probably null |
Het |
| Epb41l5 |
A |
C |
1: 119,549,902 (GRCm38) |
V705G |
possibly damaging |
Het |
| Ergic3 |
C |
A |
2: 156,011,140 (GRCm38) |
R43S |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,604,092 (GRCm38) |
Y928H |
probably damaging |
Het |
| Fyn |
C |
T |
10: 39,511,982 (GRCm38) |
T78M |
probably benign |
Het |
| Gdap2 |
A |
G |
3: 100,201,995 (GRCm38) |
T443A |
probably damaging |
Het |
| Ghrl |
A |
T |
6: 113,717,168 (GRCm38) |
|
probably benign |
Het |
| Gm1141 |
T |
C |
X: 71,939,555 (GRCm38) |
C378R |
possibly damaging |
Het |
| Gm12166 |
A |
G |
11: 46,052,293 (GRCm38) |
M1T |
probably null |
Het |
| Gm498 |
G |
T |
7: 143,891,755 (GRCm38) |
G178C |
probably damaging |
Het |
| Gm6576 |
C |
G |
15: 27,026,000 (GRCm38) |
|
noncoding transcript |
Het |
| Got1 |
C |
T |
19: 43,524,377 (GRCm38) |
D27N |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,704,249 (GRCm38) |
V946I |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,349,243 (GRCm38) |
Y3434H |
possibly damaging |
Het |
| Hp1bp3 |
C |
T |
4: 138,237,209 (GRCm38) |
S348F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,471,209 (GRCm38) |
|
probably benign |
Het |
| Kctd1 |
G |
A |
18: 14,974,180 (GRCm38) |
P743S |
probably benign |
Het |
| Klhl23 |
T |
C |
2: 69,833,966 (GRCm38) |
V553A |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,280,267 (GRCm38) |
D495G |
probably damaging |
Het |
| L3hypdh |
C |
T |
12: 72,077,143 (GRCm38) |
|
probably null |
Het |
| Lipo3 |
C |
T |
19: 33,557,106 (GRCm38) |
|
probably null |
Het |
| Lman2l |
G |
T |
1: 36,424,864 (GRCm38) |
S171* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,511,508 (GRCm38) |
D378G |
probably damaging |
Het |
| Map3k4 |
T |
A |
17: 12,248,063 (GRCm38) |
D1104V |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,461,223 (GRCm38) |
V15A |
probably benign |
Het |
| Narf |
C |
T |
11: 121,250,836 (GRCm38) |
R356C |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,393,023 (GRCm38) |
Q487H |
possibly damaging |
Het |
| Olfm5 |
G |
A |
7: 104,160,926 (GRCm38) |
A76V |
probably benign |
Het |
| Olfr1090 |
T |
C |
2: 86,753,887 (GRCm38) |
M284V |
probably benign |
Het |
| Olfr339 |
T |
A |
2: 36,422,287 (GRCm38) |
D296E |
probably benign |
Het |
| Olfr372 |
C |
T |
8: 72,058,400 (GRCm38) |
T240M |
probably damaging |
Het |
| Olfr656 |
A |
T |
7: 104,618,581 (GRCm38) |
I301F |
probably damaging |
Het |
| Olfr992 |
T |
A |
2: 85,399,961 (GRCm38) |
S191C |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 122,128,166 (GRCm38) |
Y160* |
probably null |
Het |
| Paxip1 |
C |
T |
5: 27,744,185 (GRCm38) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,679,797 (GRCm38) |
|
probably benign |
Het |
| Pdcd11 |
G |
A |
19: 47,119,862 (GRCm38) |
V1223I |
probably benign |
Het |
| Pde6c |
T |
C |
19: 38,169,365 (GRCm38) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 45,050,039 (GRCm38) |
|
probably benign |
Het |
| Prss39 |
T |
A |
1: 34,502,200 (GRCm38) |
|
probably benign |
Het |
| Samd5 |
A |
G |
10: 9,674,939 (GRCm38) |
W9R |
probably damaging |
Het |
| Sfr1 |
A |
G |
19: 47,735,018 (GRCm38) |
*320W |
probably null |
Het |
| Sh3bp4 |
A |
G |
1: 89,145,314 (GRCm38) |
N628S |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,907,961 (GRCm38) |
I104F |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,636,209 (GRCm38) |
M519V |
probably benign |
Het |
| Smcp |
T |
A |
3: 92,584,520 (GRCm38) |
T7S |
unknown |
Het |
| Sp4 |
A |
G |
12: 118,300,816 (GRCm38) |
|
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,093,539 (GRCm38) |
I327N |
probably damaging |
Het |
| Thbs4 |
G |
T |
13: 92,754,410 (GRCm38) |
H850N |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 90,021,373 (GRCm38) |
S478T |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,088,434 (GRCm38) |
|
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,419,185 (GRCm38) |
|
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,142,500 (GRCm38) |
D19G |
possibly 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 |
|
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 |
|
R2030:Gm4787
|
UTSW |
12 |
81,378,770 (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'- CTGGTTGTTACACACCCCTCTGAAG -3'
(R):5'- GTTTGCACCCACTGGAACAATATGC -3'
Sequencing Primer
(F):5'- AGTATTTTCCAGGGCCACAAG -3'
(R):5'- CACTGGAACAATATGCAGAGAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation