Incidental Mutation 'R8515:Gm4787'
| ID |
656101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
067847-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81377269 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 705
(H705L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
| AlphaFold |
B2RUD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062182
AA Change: H705L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: H705L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415D10Rik |
T |
A |
10: 82,288,602 (GRCm38) |
D2858V |
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,925,130 (GRCm38) |
M94V |
possibly damaging |
Het |
| Acss3 |
A |
G |
10: 106,948,663 (GRCm38) |
I566T |
possibly damaging |
Het |
| Adcy3 |
T |
C |
12: 4,212,187 (GRCm38) |
V1080A |
probably damaging |
Het |
| Aldh1b1 |
C |
T |
4: 45,803,818 (GRCm38) |
T452I |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,055,238 (GRCm38) |
S2392T |
possibly damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,413,100 (GRCm38) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 123,004,023 (GRCm38) |
Y72N |
probably benign |
Het |
| Clk4 |
G |
A |
11: 51,275,261 (GRCm38) |
R198Q |
probably damaging |
Het |
| Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm38) |
|
probably null |
Het |
| Ctbs |
T |
A |
3: 146,458,813 (GRCm38) |
Y240* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,373,912 (GRCm38) |
D169G |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,975,798 (GRCm38) |
V3196I |
probably damaging |
Het |
| Fam110b |
T |
C |
4: 5,799,380 (GRCm38) |
V266A |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,970,653 (GRCm38) |
S32P |
probably damaging |
Het |
| Grik1 |
A |
T |
16: 87,923,282 (GRCm38) |
Y702* |
probably null |
Het |
| Hao2 |
A |
T |
3: 98,883,647 (GRCm38) |
N70K |
probably benign |
Het |
| Heatr4 |
A |
G |
12: 83,954,704 (GRCm38) |
I888T |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,315,786 (GRCm38) |
N935K |
probably benign |
Het |
| Kdm3b |
G |
T |
18: 34,793,076 (GRCm38) |
A90S |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,316,507 (GRCm38) |
T76M |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,647,152 (GRCm38) |
H134L |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,411,631 (GRCm38) |
Q344K |
probably null |
Het |
| Man2a2 |
A |
T |
7: 80,368,290 (GRCm38) |
F211I |
possibly damaging |
Het |
| Mmp19 |
T |
C |
10: 128,795,602 (GRCm38) |
I189T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,755,255 (GRCm38) |
G1710S |
unknown |
Het |
| Myo15b |
G |
A |
11: 115,858,784 (GRCm38) |
G127S |
|
Het |
| Naca |
T |
C |
10: 128,044,243 (GRCm38) |
S1715P |
possibly damaging |
Het |
| Ndufs4 |
T |
C |
13: 114,288,803 (GRCm38) |
N163S |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 119,712,450 (GRCm38) |
R303* |
probably null |
Het |
| Nkx6-3 |
A |
T |
8: 23,153,691 (GRCm38) |
Y36F |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,176,068 (GRCm38) |
Q188K |
probably benign |
Het |
| Pak6 |
G |
T |
2: 118,689,997 (GRCm38) |
R156S |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,658,790 (GRCm38) |
K723N |
possibly damaging |
Het |
| Pcnx |
A |
G |
12: 81,962,716 (GRCm38) |
Y546C |
possibly damaging |
Het |
| Pik3r6 |
A |
G |
11: 68,539,957 (GRCm38) |
Y528C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,531,776 (GRCm38) |
N57I |
probably benign |
Het |
| Preb |
A |
G |
5: 30,959,378 (GRCm38) |
L57P |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,664,368 (GRCm38) |
D425G |
probably damaging |
Het |
| Rab35 |
G |
A |
5: 115,643,408 (GRCm38) |
V90I |
probably damaging |
Het |
| Rab3gap2 |
G |
C |
1: 185,262,820 (GRCm38) |
S852T |
probably benign |
Het |
| Rcn1 |
C |
T |
2: 105,389,119 (GRCm38) |
R243Q |
probably null |
Het |
| Rom1 |
A |
G |
19: 8,929,101 (GRCm38) |
S25P |
probably damaging |
Het |
| Shank3 |
C |
A |
15: 89,503,572 (GRCm38) |
Y286* |
probably null |
Het |
| Sis |
T |
A |
3: 72,929,409 (GRCm38) |
I837L |
probably benign |
Het |
| Ski |
T |
C |
4: 155,160,626 (GRCm38) |
S388G |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 112,010,724 (GRCm38) |
F16S |
probably benign |
Het |
| Slc22a21 |
T |
G |
11: 53,956,078 (GRCm38) |
D323A |
possibly damaging |
Het |
| Slc40a1 |
G |
A |
1: 45,912,307 (GRCm38) |
T230I |
probably damaging |
Het |
| Snrpa1 |
G |
A |
7: 66,070,633 (GRCm38) |
G195R |
probably benign |
Het |
| Spata31d1c |
G |
T |
13: 65,033,177 (GRCm38) |
S30I |
probably damaging |
Het |
| Spdl1 |
G |
A |
11: 34,813,425 (GRCm38) |
T527I |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,612,041 (GRCm38) |
L1240Q |
probably benign |
Het |
| Tef |
T |
A |
15: 81,802,836 (GRCm38) |
V18D |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,574,487 (GRCm38) |
D155G |
probably damaging |
Het |
| Vmn1r215 |
A |
G |
13: 23,075,867 (GRCm38) |
I26V |
probably benign |
Het |
| Wac |
A |
G |
18: 7,871,606 (GRCm38) |
M46V |
probably benign |
Het |
| Wbp1 |
C |
T |
6: 83,119,885 (GRCm38) |
G146D |
probably damaging |
Het |
| Zfand2a |
A |
C |
5: 139,473,791 (GRCm38) |
S147A |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,399,474 (GRCm38) |
Y1589F |
probably benign |
Het |
| Zfp345 |
G |
C |
2: 150,472,428 (GRCm38) |
D396E |
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 |
|
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 |
|
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'- CCATTGTGTGGCTCCAATTAG -3'
(R):5'- ACTTGTGGCCCTGGAAAATACTG -3'
Sequencing Primer
(F):5'- GGCTCCAATTAGTTTAGGATGAAGTC -3'
(R):5'- GGCCCTGGAAAATACTGTAAAAATC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation