Incidental Mutation 'R5355:Gm4787'
| ID |
424056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
042934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 81377465 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 640
(R640*)
|
| 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: R640*
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: R640*
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
94% (50/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,726,873 (GRCm38) |
L857P |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,887,942 (GRCm38) |
*582W |
probably null |
Het |
| Adra1d |
A |
G |
2: 131,561,087 (GRCm38) |
V361A |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,944,049 (GRCm38) |
|
probably benign |
Het |
| Atxn10 |
T |
A |
15: 85,462,314 (GRCm38) |
N424K |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,780,663 (GRCm38) |
T111A |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,795,897 (GRCm38) |
R205H |
probably damaging |
Het |
| Cdr2l |
T |
C |
11: 115,393,570 (GRCm38) |
V244A |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,051,801 (GRCm38) |
M468V |
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,445,984 (GRCm38) |
R1535H |
probably damaging |
Het |
| Cryab |
A |
T |
9: 50,753,451 (GRCm38) |
S59C |
probably damaging |
Het |
| Cuzd1 |
G |
A |
7: 131,316,124 (GRCm38) |
T249I |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,786,911 (GRCm38) |
V129M |
probably benign |
Het |
| Dlg2 |
G |
T |
7: 91,449,803 (GRCm38) |
R31L |
probably benign |
Het |
| Dthd1 |
A |
C |
5: 62,839,387 (GRCm38) |
L488F |
probably damaging |
Het |
| Dupd1 |
G |
A |
14: 21,677,023 (GRCm38) |
R186W |
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,282,166 (GRCm38) |
I2574L |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 37,959,873 (GRCm38) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,073,904 (GRCm38) |
D1610G |
probably damaging |
Het |
| Gm10330 |
T |
A |
12: 23,780,130 (GRCm38) |
N17Y |
probably damaging |
Het |
| Gm8251 |
A |
C |
1: 44,057,979 (GRCm38) |
C1320G |
possibly damaging |
Het |
| Hist1h2bl |
A |
T |
13: 21,715,860 (GRCm38) |
I95N |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,438,242 (GRCm38) |
S71T |
probably benign |
Het |
| Isoc2b |
A |
G |
7: 4,849,358 (GRCm38) |
|
probably benign |
Het |
| Itgb2 |
G |
T |
10: 77,558,052 (GRCm38) |
R442L |
probably benign |
Het |
| Lama5 |
A |
T |
2: 180,181,651 (GRCm38) |
N2658K |
possibly damaging |
Het |
| Lemd3 |
A |
T |
10: 120,933,633 (GRCm38) |
I598K |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,454,838 (GRCm38) |
C3825* |
probably null |
Het |
| Mep1a |
T |
C |
17: 43,477,146 (GRCm38) |
D673G |
probably damaging |
Het |
| Met |
A |
G |
6: 17,491,362 (GRCm38) |
Y41C |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,894,578 (GRCm38) |
V99A |
probably damaging |
Het |
| Mmadhc |
A |
G |
2: 50,291,424 (GRCm38) |
I78T |
probably benign |
Het |
| Mmp9 |
C |
A |
2: 164,950,992 (GRCm38) |
P389T |
possibly damaging |
Het |
| Mvk |
T |
G |
5: 114,452,438 (GRCm38) |
S7A |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,124,251 (GRCm38) |
T58S |
probably benign |
Het |
| Nlrp1c-ps |
C |
A |
11: 71,258,013 (GRCm38) |
|
noncoding transcript |
Het |
| Nr1h3 |
A |
G |
2: 91,191,908 (GRCm38) |
I125T |
possibly damaging |
Het |
| Olfr1089 |
A |
T |
2: 86,733,336 (GRCm38) |
I92K |
probably damaging |
Het |
| Olfr443-ps1 |
C |
T |
6: 43,094,664 (GRCm38) |
|
noncoding transcript |
Het |
| Parn |
A |
G |
16: 13,668,022 (GRCm38) |
I3T |
possibly damaging |
Het |
| Parp8 |
A |
G |
13: 116,862,204 (GRCm38) |
|
probably null |
Het |
| Parva |
T |
C |
7: 112,544,268 (GRCm38) |
|
probably null |
Het |
| Pwp2 |
A |
C |
10: 78,175,544 (GRCm38) |
I672M |
possibly damaging |
Het |
| Sfswap |
C |
T |
5: 129,539,746 (GRCm38) |
T418I |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,560,959 (GRCm38) |
Y334C |
probably damaging |
Het |
| Slc7a13 |
C |
A |
4: 19,839,267 (GRCm38) |
T290K |
probably benign |
Het |
| Spry2 |
A |
G |
14: 105,893,278 (GRCm38) |
L158P |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 77,050,454 (GRCm38) |
E150G |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 127,374,597 (GRCm38) |
F134L |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,596,781 (GRCm38) |
F175S |
probably benign |
Het |
| Zscan22 |
C |
A |
7: 12,906,508 (GRCm38) |
N67K |
probably benign |
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 |
|
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 |
|
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'- CAGAGGGTTAGTTATAGGGCCAC -3'
(R):5'- TGTCCCATGTCAAAAGGAGG -3'
Sequencing Primer
(F):5'- ATAGGGCCACTGTTTACACTAC -3'
(R):5'- CTCCACTGTGATGGTGTCAAGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation