Incidental Mutation 'R5180:Gm4787'
| ID |
399762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
042760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 81424604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 518
(T518S)
|
| 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: T518S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: T518S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,416,510 (GRCm39) |
T4091A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,431,535 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
C |
T |
4: 126,261,544 (GRCm39) |
V435I |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ampd2 |
G |
T |
3: 107,986,358 (GRCm39) |
Q273K |
probably benign |
Het |
| Ankrd35 |
C |
A |
3: 96,587,789 (GRCm39) |
H109Q |
probably damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,296,695 (GRCm39) |
L153S |
possibly damaging |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,156 (GRCm39) |
V152M |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,243,416 (GRCm39) |
C1680Y |
probably benign |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,714 (GRCm39) |
I104F |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,993,899 (GRCm39) |
N434S |
unknown |
Het |
| Dab2ip |
C |
T |
2: 35,610,503 (GRCm39) |
P782L |
possibly damaging |
Het |
| Dhx34 |
C |
A |
7: 15,939,405 (GRCm39) |
G663* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,462,446 (GRCm39) |
D3715G |
probably damaging |
Het |
| Dnajc11 |
C |
T |
4: 152,054,396 (GRCm39) |
R201C |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,690 (GRCm39) |
I27N |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,507 (GRCm39) |
Y380F |
probably damaging |
Het |
| Gm3336 |
A |
G |
8: 71,173,110 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,812,200 (GRCm39) |
Y152H |
probably damaging |
Het |
| Gm6899 |
A |
G |
11: 26,543,795 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
T |
C |
10: 81,380,707 (GRCm39) |
K19E |
probably benign |
Het |
| Gpr15 |
C |
A |
16: 58,538,248 (GRCm39) |
L280F |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80d |
C |
A |
1: 63,125,488 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
G |
10: 119,981,687 (GRCm39) |
K406T |
probably damaging |
Het |
| Kif15 |
G |
A |
9: 122,828,275 (GRCm39) |
C634Y |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 140,237,636 (GRCm39) |
E14V |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,005,374 (GRCm39) |
D261E |
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,076,710 (GRCm39) |
|
probably benign |
Het |
| Natd1 |
G |
T |
11: 60,804,482 (GRCm39) |
R24S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,004,776 (GRCm39) |
S306T |
probably benign |
Het |
| Parp9 |
T |
A |
16: 35,774,106 (GRCm39) |
Y81* |
probably null |
Het |
| Pde4d |
A |
G |
13: 109,877,007 (GRCm39) |
N73S |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,941,872 (GRCm39) |
I129N |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,940,761 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
G |
T |
6: 146,928,819 (GRCm39) |
R813L |
probably damaging |
Het |
| Ramp3 |
T |
A |
11: 6,608,619 (GRCm39) |
L16Q |
unknown |
Het |
| Slc35a4 |
T |
C |
18: 36,815,688 (GRCm39) |
S173P |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,772,115 (GRCm39) |
V415A |
probably damaging |
Het |
| Smarcc2 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
10: 128,323,231 (GRCm39) |
|
probably benign |
Het |
| Snph |
G |
A |
2: 151,442,307 (GRCm39) |
R43W |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
C |
A |
3: 54,616,506 (GRCm39) |
H254Q |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,869,046 (GRCm39) |
C112R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,008 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,504 (GRCm39) |
V1961A |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,383,948 (GRCm39) |
Y30* |
probably null |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tnfrsf1b |
C |
A |
4: 144,954,067 (GRCm39) |
C94F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,579,740 (GRCm39) |
Y23718H |
probably damaging |
Het |
| Ube2i |
T |
C |
17: 25,484,268 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
G |
T |
5: 109,478,391 (GRCm39) |
V49F |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,953,683 (GRCm39) |
I223T |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,461,592 (GRCm39) |
Y180C |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
| Zscan18 |
T |
A |
7: 12,509,216 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm4787 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Gm4787
|
APN |
12 |
81,423,948 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01916:Gm4787
|
APN |
12 |
81,424,218 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02193:Gm4787
|
APN |
12 |
81,425,302 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02623:Gm4787
|
APN |
12 |
81,425,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02681:Gm4787
|
APN |
12 |
81,425,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03257:Gm4787
|
APN |
12 |
81,424,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Gm4787
|
APN |
12 |
81,425,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,423,949 (GRCm39) |
missense |
probably benign |
|
|
R0070:Gm4787
|
UTSW |
12 |
81,425,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Gm4787
|
UTSW |
12 |
81,424,521 (GRCm39) |
nonsense |
probably null |
|
|
R0220:Gm4787
|
UTSW |
12 |
81,425,422 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0304:Gm4787
|
UTSW |
12 |
81,425,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Gm4787
|
UTSW |
12 |
81,425,086 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1761:Gm4787
|
UTSW |
12 |
81,423,950 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1809:Gm4787
|
UTSW |
12 |
81,425,303 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1853:Gm4787
|
UTSW |
12 |
81,425,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Gm4787
|
UTSW |
12 |
81,425,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Gm4787
|
UTSW |
12 |
81,425,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Gm4787
|
UTSW |
12 |
81,425,694 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2112:Gm4787
|
UTSW |
12 |
81,424,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Gm4787
|
UTSW |
12 |
81,425,336 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2151:Gm4787
|
UTSW |
12 |
81,423,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Gm4787
|
UTSW |
12 |
81,423,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2342:Gm4787
|
UTSW |
12 |
81,425,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2504:Gm4787
|
UTSW |
12 |
81,425,911 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4038:Gm4787
|
UTSW |
12 |
81,425,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Gm4787
|
UTSW |
12 |
81,425,987 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4748:Gm4787
|
UTSW |
12 |
81,424,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Gm4787
|
UTSW |
12 |
81,425,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4928:Gm4787
|
UTSW |
12 |
81,425,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4960:Gm4787
|
UTSW |
12 |
81,426,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4974:Gm4787
|
UTSW |
12 |
81,424,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5028:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5029:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5031:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5098:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5099:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5100:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5101:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5135:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5152:Gm4787
|
UTSW |
12 |
81,425,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5220:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5257:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5258:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5297:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5324:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5325:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5355:Gm4787
|
UTSW |
12 |
81,424,239 (GRCm39) |
nonsense |
probably null |
|
|
R5364:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5396:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5397:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5398:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5514:Gm4787
|
UTSW |
12 |
81,425,102 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5634:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5666:Gm4787
|
UTSW |
12 |
81,424,805 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5670:Gm4787
|
UTSW |
12 |
81,424,805 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5787:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5788:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6354:Gm4787
|
UTSW |
12 |
81,424,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Gm4787
|
UTSW |
12 |
81,425,974 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7120:Gm4787
|
UTSW |
12 |
81,425,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Gm4787
|
UTSW |
12 |
81,424,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7937:Gm4787
|
UTSW |
12 |
81,424,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8022:Gm4787
|
UTSW |
12 |
81,424,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8140:Gm4787
|
UTSW |
12 |
81,424,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8314:Gm4787
|
UTSW |
12 |
81,425,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Gm4787
|
UTSW |
12 |
81,424,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8498:Gm4787
|
UTSW |
12 |
81,425,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Gm4787
|
UTSW |
12 |
81,424,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9103:Gm4787
|
UTSW |
12 |
81,425,489 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9457:Gm4787
|
UTSW |
12 |
81,426,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Gm4787
|
UTSW |
12 |
81,426,074 (GRCm39) |
nonsense |
probably null |
|
|
R9608:Gm4787
|
UTSW |
12 |
81,425,086 (GRCm39) |
missense |
probably benign |
0.03 |
|
V7580:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
V7581:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
V7582:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTTGACACCATCACAGTG -3'
(R):5'- TCAGGGCAGCTCTTGTAATAAAG -3'
Sequencing Primer
(F):5'- CCATCACAGTGGAGCATTCC -3'
(R):5'- CAGCTCTTGTAATAAAGGAGGTTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation