Incidental Mutation 'R8480:Gm4787'
| ID |
657490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
067924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81377506 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 626
(D626V)
|
| 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: D626V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: D626V
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
C |
A |
15: 8,187,458 (GRCm38) |
P720Q |
possibly damaging |
Het |
| Acvr1b |
G |
A |
15: 101,210,839 (GRCm38) |
V499M |
possibly damaging |
Het |
| Adam5 |
G |
A |
8: 24,804,459 (GRCm38) |
Q375* |
probably null |
Het |
| Adgrf1 |
G |
A |
17: 43,295,164 (GRCm38) |
E60K |
probably benign |
Het |
| Alb |
T |
C |
5: 90,462,771 (GRCm38) |
V70A |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,788,427 (GRCm38) |
|
probably benign |
Het |
| Aste1 |
A |
T |
9: 105,397,796 (GRCm38) |
T351S |
probably damaging |
Het |
| Aste1 |
G |
A |
9: 105,396,990 (GRCm38) |
R143Q |
possibly damaging |
Het |
| Bace2 |
T |
A |
16: 97,413,470 (GRCm38) |
L286Q |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,719,275 (GRCm38) |
G235R |
probably damaging |
Het |
| Brwd1 |
A |
T |
16: 96,047,430 (GRCm38) |
H516Q |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,685,144 (GRCm38) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 165,146,726 (GRCm38) |
E236D |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 86,033,085 (GRCm38) |
S229* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,398,902 (GRCm38) |
T2029S |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 114,181,394 (GRCm38) |
D1234G |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,907,760 (GRCm38) |
I269T |
probably damaging |
Het |
| Dcaf7 |
T |
A |
11: 106,054,793 (GRCm38) |
S323T |
probably benign |
Het |
| Ddias |
G |
T |
7: 92,859,400 (GRCm38) |
Q436K |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 119,143,267 (GRCm38) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 67,836,410 (GRCm38) |
I294F |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,282,968 (GRCm38) |
D2306E |
possibly damaging |
Het |
| Gm6563 |
A |
G |
19: 23,675,926 (GRCm38) |
T27A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,168,570 (GRCm38) |
|
probably null |
Het |
| Hsph1 |
A |
T |
5: 149,627,564 (GRCm38) |
W406R |
probably null |
Het |
| Ighv1-66 |
C |
T |
12: 115,593,382 (GRCm38) |
G27R |
possibly damaging |
Het |
| Impad1 |
C |
T |
4: 4,769,376 (GRCm38) |
M246I |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,337,600 (GRCm38) |
E102G |
probably damaging |
Het |
| Krt34 |
T |
A |
11: 100,040,145 (GRCm38) |
|
probably null |
Het |
| Krt36 |
T |
C |
11: 100,102,809 (GRCm38) |
D401G |
possibly damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,431,131 (GRCm38) |
G326S |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,485,936 (GRCm38) |
N758S |
probably damaging |
Het |
| Mkl2 |
A |
T |
16: 13,384,192 (GRCm38) |
|
probably null |
Het |
| Muc4 |
C |
T |
16: 32,752,993 (GRCm38) |
T957I |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,222,235 (GRCm38) |
Y831C |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,635,644 (GRCm38) |
V829E |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,473,370 (GRCm38) |
L72F |
possibly damaging |
Het |
| Olfr1316 |
A |
T |
2: 112,129,985 (GRCm38) |
D275E |
possibly damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,129,065 (GRCm38) |
V1161E |
probably damaging |
Het |
| Raver1 |
A |
G |
9: 21,090,280 (GRCm38) |
Y86H |
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,704,505 (GRCm38) |
H1035Q |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,263,418 (GRCm38) |
M814K |
probably benign |
Het |
| Sh3d19 |
T |
G |
3: 86,084,877 (GRCm38) |
W71G |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,245,166 (GRCm38) |
Y759C |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 122,113,079 (GRCm38) |
D197E |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,866,069 (GRCm38) |
|
probably null |
Het |
| Ssc5d |
A |
T |
7: 4,936,329 (GRCm38) |
D588V |
probably damaging |
Het |
| Supt20 |
C |
A |
3: 54,707,116 (GRCm38) |
T181K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,386,818 (GRCm38) |
S1363R |
probably benign |
Het |
| Tbcel |
G |
A |
9: 42,463,873 (GRCm38) |
|
probably null |
Het |
| Ube2e3 |
T |
C |
2: 78,918,814 (GRCm38) |
L169P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,288,768 (GRCm38) |
F595S |
probably benign |
Het |
| Zfp473 |
G |
T |
7: 44,732,899 (GRCm38) |
P670Q |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 49,074,999 (GRCm38) |
A660V |
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 |
|
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 |
|
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'- AGGGCCACTGTTTACACTAC -3'
(R):5'- AGGAGGAAGCCAAACTGTCC -3'
Sequencing Primer
(F):5'- ACTACCACCTTTTCCTCTTTGTAAAC -3'
(R):5'- CTGTCCCATGTCAAAAGGAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation