Incidental Mutation 'R5325:Gm4787'
| ID |
421908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
042908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5325 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 81377830 bp (GRCm38)
|
| 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: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
A |
11: 106,005,253 (GRCm38) |
M675K |
probably benign |
Het |
| Ccdc186 |
A |
T |
19: 56,813,181 (GRCm38) |
I168N |
probably damaging |
Het |
| Ccnb1 |
C |
G |
13: 100,781,775 (GRCm38) |
Q121H |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,737,906 (GRCm38) |
E219G |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,004,025 (GRCm38) |
T73A |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 170,001,837 (GRCm38) |
T283S |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,095,370 (GRCm38) |
D768V |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,221,365 (GRCm38) |
D1833G |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,537,702 (GRCm38) |
N87S |
probably benign |
Het |
| Fam98b |
A |
C |
2: 117,270,651 (GRCm38) |
I315L |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,006,564 (GRCm38) |
V330A |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,291,102 (GRCm38) |
V523I |
possibly damaging |
Het |
| Fbxw27 |
A |
G |
9: 109,770,093 (GRCm38) |
C419R |
probably damaging |
Het |
| Flt3 |
C |
A |
5: 147,375,649 (GRCm38) |
V161L |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,883,449 (GRCm38) |
T87I |
probably damaging |
Het |
| Gm6457 |
A |
T |
18: 14,570,441 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr63 |
T |
C |
4: 25,007,294 (GRCm38) |
V6A |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,559,104 (GRCm38) |
K89* |
probably null |
Het |
| H2-M10.2 |
C |
A |
17: 36,285,579 (GRCm38) |
V125L |
probably benign |
Het |
| Hrh4 |
C |
T |
18: 13,021,997 (GRCm38) |
Q198* |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,637,906 (GRCm38) |
E373G |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 163,060,760 (GRCm38) |
G249R |
probably damaging |
Het |
| Noa1 |
A |
C |
5: 77,304,195 (GRCm38) |
D547E |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,572,784 (GRCm38) |
R153W |
probably damaging |
Het |
| Nudt9 |
A |
C |
5: 104,050,621 (GRCm38) |
M1L |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,912,571 (GRCm38) |
D282E |
probably benign |
Het |
| Olfr908 |
A |
T |
9: 38,516,158 (GRCm38) |
N42I |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,667,792 (GRCm38) |
H168Q |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 140,162,113 (GRCm38) |
Y279F |
probably damaging |
Het |
| Osbpl5 |
C |
G |
7: 143,691,928 (GRCm38) |
A816P |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,317,634 (GRCm38) |
I924T |
possibly damaging |
Het |
| Ppat |
A |
G |
5: 76,928,422 (GRCm38) |
|
probably benign |
Het |
| Rad50 |
T |
G |
11: 53,692,863 (GRCm38) |
I364L |
probably benign |
Het |
| Rnf7l |
A |
G |
10: 63,421,679 (GRCm38) |
S21P |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,973,785 (GRCm38) |
I484T |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,690,363 (GRCm38) |
M2839K |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 72,750,526 (GRCm38) |
D807G |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,411,443 (GRCm38) |
T98I |
possibly damaging |
Het |
| Smim17 |
G |
A |
7: 6,429,322 (GRCm38) |
V88M |
probably damaging |
Het |
| Spib |
T |
C |
7: 44,528,081 (GRCm38) |
T229A |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,096,978 (GRCm38) |
|
probably null |
Het |
| Syne4 |
A |
T |
7: 30,318,976 (GRCm38) |
Y381F |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 133,261,071 (GRCm38) |
|
probably benign |
Het |
| Tnpo3 |
A |
C |
6: 29,602,013 (GRCm38) |
|
probably benign |
Het |
| Trim12a |
T |
A |
7: 104,304,206 (GRCm38) |
I233F |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,164,339 (GRCm38) |
N82Y |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,544,202 (GRCm38) |
M300L |
probably benign |
Het |
| Wdr17 |
G |
A |
8: 54,659,681 (GRCm38) |
A788V |
possibly damaging |
Het |
| Wwtr1 |
A |
T |
3: 57,575,237 (GRCm38) |
V63E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,013,961 (GRCm38) |
|
probably benign |
Het |
| Zfp956 |
T |
C |
6: 47,951,078 (GRCm38) |
|
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 |
|
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'- AAGGTAGTGTGCTCACCTCC -3'
(R):5'- GCTGTCTATCTTGTAAGTTTGCACC -3'
Sequencing Primer
(F):5'- GCTTGACACCATCACAGTGGAG -3'
(R):5'- TGTAAGTTTGCACCCACTGGAAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation