Incidental Mutation 'R1535:Sgsm1'
ID |
166882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsm1
|
Ensembl Gene |
ENSMUSG00000042216 |
Gene Name |
small G protein signaling modulator 1 |
Synonyms |
Rutbc2, 2410098H20Rik, D5Bwg1524e |
MMRRC Submission |
039574-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1535 (G1)
|
Quality Score |
113 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
113243220-113310786 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113263269 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 864
(S864T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048112]
[ENSMUST00000057209]
[ENSMUST00000112325]
[ENSMUST00000154248]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048112
AA Change: S864T
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046544 Gene: ENSMUSG00000042216 AA Change: S864T
Domain | Start | End | E-Value | Type |
RUN
|
127 |
187 |
6.52e-18 |
SMART |
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
low complexity region
|
454 |
469 |
N/A |
INTRINSIC |
TBC
|
559 |
1053 |
2.88e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057209
AA Change: S577T
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000084106 Gene: ENSMUSG00000042216 AA Change: S577T
Domain | Start | End | E-Value | Type |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
TBC
|
272 |
766 |
2.88e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112325
|
SMART Domains |
Protein: ENSMUSP00000107944 Gene: ENSMUSG00000042216
Domain | Start | End | E-Value | Type |
RUN
|
127 |
187 |
6.52e-18 |
SMART |
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
low complexity region
|
454 |
469 |
N/A |
INTRINSIC |
SCOP:d1fkma1
|
539 |
615 |
1e-6 |
SMART |
Blast:TBC
|
559 |
675 |
1e-71 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147856
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154248
|
SMART Domains |
Protein: ENSMUSP00000114932 Gene: ENSMUSG00000042216
Domain | Start | End | E-Value | Type |
RUN
|
127 |
187 |
6.52e-18 |
SMART |
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
low complexity region
|
509 |
524 |
N/A |
INTRINSIC |
SCOP:d1fkma1
|
594 |
670 |
9e-7 |
SMART |
Blast:TBC
|
614 |
706 |
3e-55 |
BLAST |
|
Meta Mutation Damage Score |
0.1584  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032A03Rik |
C |
T |
9: 50,764,007 (GRCm38) |
R40Q |
probably damaging |
Het |
3110009E18Rik |
T |
C |
1: 120,171,473 (GRCm38) |
S99P |
possibly damaging |
Het |
4932431P20Rik |
C |
T |
7: 29,529,579 (GRCm38) |
|
noncoding transcript |
Het |
Abca16 |
T |
A |
7: 120,540,705 (GRCm38) |
I1530N |
probably benign |
Het |
Abcc9 |
T |
G |
6: 142,664,635 (GRCm38) |
Q601P |
probably damaging |
Het |
Acap3 |
A |
G |
4: 155,896,174 (GRCm38) |
|
probably benign |
Het |
Adamts16 |
A |
T |
13: 70,791,794 (GRCm38) |
|
probably null |
Het |
Alpk2 |
G |
C |
18: 65,350,204 (GRCm38) |
S244R |
probably benign |
Het |
Atp8b1 |
C |
T |
18: 64,545,264 (GRCm38) |
V854M |
probably damaging |
Het |
Bend5 |
C |
A |
4: 111,459,763 (GRCm38) |
D374E |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,698,246 (GRCm38) |
D1014G |
possibly damaging |
Het |
Ccer2 |
G |
T |
7: 28,757,397 (GRCm38) |
G189* |
probably null |
Het |
Ces2h |
A |
G |
8: 105,014,486 (GRCm38) |
T37A |
probably benign |
Het |
Cmah |
T |
C |
13: 24,439,220 (GRCm38) |
F213L |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,525,384 (GRCm38) |
E390G |
probably benign |
Het |
Coq7 |
C |
T |
7: 118,529,674 (GRCm38) |
R46Q |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,266,287 (GRCm38) |
D136V |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,159,058 (GRCm38) |
L237P |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,951,918 (GRCm38) |
L549P |
unknown |
Het |
Diaph1 |
A |
G |
18: 37,896,093 (GRCm38) |
|
probably null |
Het |
Dis3 |
G |
T |
14: 99,079,426 (GRCm38) |
Q825K |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,018,730 (GRCm38) |
R2568Q |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,816,322 (GRCm38) |
R2312S |
possibly damaging |
Het |
Dock9 |
C |
T |
14: 121,546,064 (GRCm38) |
E2041K |
probably damaging |
Het |
Doxl2 |
T |
C |
6: 48,975,464 (GRCm38) |
F108L |
probably damaging |
Het |
Eci1 |
A |
G |
17: 24,439,090 (GRCm38) |
E282G |
probably benign |
Het |
Egf |
T |
A |
3: 129,690,778 (GRCm38) |
T464S |
probably benign |
Het |
Eif4g3 |
C |
T |
4: 138,097,302 (GRCm38) |
P97S |
probably damaging |
Het |
Emsy |
A |
G |
7: 98,593,737 (GRCm38) |
V1065A |
possibly damaging |
Het |
Ep400 |
G |
T |
5: 110,708,166 (GRCm38) |
|
probably benign |
Het |
Fam13a |
A |
C |
6: 58,939,347 (GRCm38) |
I607S |
probably damaging |
Het |
Fam241b |
A |
G |
10: 62,108,949 (GRCm38) |
S113P |
probably damaging |
Het |
Fbxl21 |
A |
T |
13: 56,523,527 (GRCm38) |
M1L |
probably benign |
Het |
Fnip2 |
C |
A |
3: 79,481,765 (GRCm38) |
C553F |
probably damaging |
Het |
Frmd3 |
G |
T |
4: 74,013,758 (GRCm38) |
|
probably benign |
Het |
Gm597 |
T |
C |
1: 28,777,424 (GRCm38) |
E509G |
probably damaging |
Het |
Gm9745 |
A |
T |
13: 8,940,644 (GRCm38) |
|
probably benign |
Het |
Grm4 |
G |
A |
17: 27,434,801 (GRCm38) |
S470L |
probably benign |
Het |
Gucy2e |
T |
A |
11: 69,226,244 (GRCm38) |
I784F |
probably damaging |
Het |
H1fx |
T |
C |
6: 87,981,148 (GRCm38) |
Y70C |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,420,407 (GRCm38) |
T3338S |
possibly damaging |
Het |
Idh1 |
C |
T |
1: 65,168,538 (GRCm38) |
G161R |
probably damaging |
Het |
Idi1 |
T |
C |
13: 8,886,909 (GRCm38) |
|
probably benign |
Het |
Kcnq2 |
C |
T |
2: 181,134,825 (GRCm38) |
G90S |
probably damaging |
Het |
Klhl29 |
A |
G |
12: 5,084,486 (GRCm38) |
Y642H |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,794,570 (GRCm38) |
|
probably benign |
Het |
Macf1 |
A |
T |
4: 123,440,693 (GRCm38) |
F4420I |
probably benign |
Het |
Me1 |
A |
G |
9: 86,587,043 (GRCm38) |
S470P |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,870,605 (GRCm38) |
S71P |
probably damaging |
Het |
Mfsd3 |
T |
C |
15: 76,702,779 (GRCm38) |
L273P |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,485,211 (GRCm38) |
K757R |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,777,813 (GRCm38) |
V782D |
probably damaging |
Het |
Nab2 |
C |
G |
10: 127,665,047 (GRCm38) |
E59Q |
probably damaging |
Het |
Nfyc |
A |
T |
4: 120,761,724 (GRCm38) |
N244K |
probably damaging |
Het |
Nupr1l |
A |
G |
5: 129,908,831 (GRCm38) |
I80M |
probably damaging |
Het |
Olfr1229 |
T |
C |
2: 89,283,057 (GRCm38) |
I46M |
probably benign |
Het |
Olfr583 |
A |
G |
7: 103,051,369 (GRCm38) |
T24A |
probably benign |
Het |
Olfr76 |
A |
G |
19: 12,120,332 (GRCm38) |
C115R |
probably damaging |
Het |
Pkn3 |
A |
G |
2: 30,087,053 (GRCm38) |
T602A |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,204,289 (GRCm38) |
V561D |
probably benign |
Het |
Psd2 |
T |
A |
18: 36,005,790 (GRCm38) |
V489E |
probably benign |
Het |
Rasal2 |
T |
C |
1: 157,230,059 (GRCm38) |
T181A |
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,982,156 (GRCm38) |
M1T |
probably null |
Het |
Slc5a10 |
C |
A |
11: 61,673,941 (GRCm38) |
G404V |
possibly damaging |
Het |
Slc6a1 |
G |
T |
6: 114,307,770 (GRCm38) |
G263V |
probably damaging |
Het |
Son |
A |
G |
16: 91,659,734 (GRCm38) |
K1790E |
probably damaging |
Het |
Syde2 |
A |
G |
3: 146,002,421 (GRCm38) |
|
probably benign |
Het |
Tmem126a |
T |
C |
7: 90,452,818 (GRCm38) |
I58V |
probably benign |
Het |
Vmn2r8 |
T |
C |
5: 108,802,174 (GRCm38) |
Y269C |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,189,365 (GRCm38) |
S416T |
probably damaging |
Het |
Zfp40 |
A |
T |
17: 23,175,869 (GRCm38) |
H513Q |
probably damaging |
Het |
|
Other mutations in Sgsm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Sgsm1
|
APN |
5 |
113,245,064 (GRCm38) |
missense |
probably benign |
0.00 |
IGL00503:Sgsm1
|
APN |
5 |
113,276,142 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01377:Sgsm1
|
APN |
5 |
113,276,182 (GRCm38) |
splice site |
probably benign |
|
IGL01602:Sgsm1
|
APN |
5 |
113,285,665 (GRCm38) |
missense |
possibly damaging |
0.92 |
IGL01605:Sgsm1
|
APN |
5 |
113,285,665 (GRCm38) |
missense |
possibly damaging |
0.92 |
IGL01669:Sgsm1
|
APN |
5 |
113,263,490 (GRCm38) |
missense |
probably benign |
|
IGL01920:Sgsm1
|
APN |
5 |
113,273,605 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01951:Sgsm1
|
APN |
5 |
113,286,767 (GRCm38) |
splice site |
probably benign |
|
IGL02387:Sgsm1
|
APN |
5 |
113,253,063 (GRCm38) |
missense |
possibly damaging |
0.93 |
IGL02690:Sgsm1
|
APN |
5 |
113,286,767 (GRCm38) |
splice site |
probably benign |
|
IGL03177:Sgsm1
|
APN |
5 |
113,250,993 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03186:Sgsm1
|
APN |
5 |
113,285,021 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03398:Sgsm1
|
APN |
5 |
113,255,316 (GRCm38) |
missense |
possibly damaging |
0.67 |
caliente
|
UTSW |
5 |
113,280,462 (GRCm38) |
intron |
probably benign |
|
Chili
|
UTSW |
5 |
113,258,123 (GRCm38) |
intron |
probably benign |
|
pimiento
|
UTSW |
5 |
113,263,257 (GRCm38) |
missense |
probably benign |
0.15 |
R0048:Sgsm1
|
UTSW |
5 |
113,268,750 (GRCm38) |
missense |
probably damaging |
1.00 |
R0058:Sgsm1
|
UTSW |
5 |
113,285,087 (GRCm38) |
missense |
probably damaging |
1.00 |
R0058:Sgsm1
|
UTSW |
5 |
113,285,087 (GRCm38) |
missense |
probably damaging |
1.00 |
R0082:Sgsm1
|
UTSW |
5 |
113,288,836 (GRCm38) |
missense |
probably benign |
0.01 |
R0085:Sgsm1
|
UTSW |
5 |
113,279,270 (GRCm38) |
splice site |
probably benign |
|
R0099:Sgsm1
|
UTSW |
5 |
113,274,360 (GRCm38) |
splice site |
probably benign |
|
R0269:Sgsm1
|
UTSW |
5 |
113,286,929 (GRCm38) |
critical splice acceptor site |
probably null |
|
R0310:Sgsm1
|
UTSW |
5 |
113,263,705 (GRCm38) |
missense |
probably benign |
0.00 |
R0325:Sgsm1
|
UTSW |
5 |
113,288,835 (GRCm38) |
missense |
probably damaging |
0.99 |
R0420:Sgsm1
|
UTSW |
5 |
113,263,759 (GRCm38) |
missense |
probably benign |
0.16 |
R0594:Sgsm1
|
UTSW |
5 |
113,310,562 (GRCm38) |
missense |
probably benign |
0.00 |
R0599:Sgsm1
|
UTSW |
5 |
113,245,028 (GRCm38) |
missense |
probably damaging |
1.00 |
R0631:Sgsm1
|
UTSW |
5 |
113,285,123 (GRCm38) |
splice site |
probably benign |
|
R0744:Sgsm1
|
UTSW |
5 |
113,279,184 (GRCm38) |
missense |
probably benign |
0.38 |
R0833:Sgsm1
|
UTSW |
5 |
113,279,184 (GRCm38) |
missense |
probably benign |
0.38 |
R0919:Sgsm1
|
UTSW |
5 |
113,258,842 (GRCm38) |
missense |
probably damaging |
1.00 |
R0944:Sgsm1
|
UTSW |
5 |
113,265,874 (GRCm38) |
missense |
probably benign |
0.40 |
R1169:Sgsm1
|
UTSW |
5 |
113,279,485 (GRCm38) |
missense |
probably damaging |
1.00 |
R1232:Sgsm1
|
UTSW |
5 |
113,273,711 (GRCm38) |
nonsense |
probably null |
|
R1473:Sgsm1
|
UTSW |
5 |
113,263,257 (GRCm38) |
missense |
probably benign |
0.15 |
R1796:Sgsm1
|
UTSW |
5 |
113,273,617 (GRCm38) |
missense |
possibly damaging |
0.58 |
R1878:Sgsm1
|
UTSW |
5 |
113,263,515 (GRCm38) |
missense |
probably damaging |
0.97 |
R2084:Sgsm1
|
UTSW |
5 |
113,285,400 (GRCm38) |
missense |
probably damaging |
1.00 |
R3855:Sgsm1
|
UTSW |
5 |
113,263,259 (GRCm38) |
missense |
probably benign |
0.01 |
R3856:Sgsm1
|
UTSW |
5 |
113,263,259 (GRCm38) |
missense |
probably benign |
0.01 |
R4294:Sgsm1
|
UTSW |
5 |
113,285,404 (GRCm38) |
missense |
probably damaging |
1.00 |
R4373:Sgsm1
|
UTSW |
5 |
113,258,123 (GRCm38) |
intron |
probably benign |
|
R4558:Sgsm1
|
UTSW |
5 |
113,258,111 (GRCm38) |
intron |
probably benign |
|
R4610:Sgsm1
|
UTSW |
5 |
113,255,307 (GRCm38) |
missense |
probably damaging |
1.00 |
R4667:Sgsm1
|
UTSW |
5 |
113,260,047 (GRCm38) |
critical splice donor site |
probably null |
|
R4838:Sgsm1
|
UTSW |
5 |
113,282,626 (GRCm38) |
missense |
probably damaging |
1.00 |
R4890:Sgsm1
|
UTSW |
5 |
113,280,462 (GRCm38) |
intron |
probably benign |
|
R4992:Sgsm1
|
UTSW |
5 |
113,282,620 (GRCm38) |
missense |
possibly damaging |
0.89 |
R5366:Sgsm1
|
UTSW |
5 |
113,251,039 (GRCm38) |
missense |
possibly damaging |
0.91 |
R5776:Sgsm1
|
UTSW |
5 |
113,250,957 (GRCm38) |
missense |
probably damaging |
1.00 |
R5813:Sgsm1
|
UTSW |
5 |
113,250,956 (GRCm38) |
missense |
probably damaging |
1.00 |
R6000:Sgsm1
|
UTSW |
5 |
113,286,838 (GRCm38) |
missense |
probably damaging |
1.00 |
R6354:Sgsm1
|
UTSW |
5 |
113,282,656 (GRCm38) |
missense |
probably damaging |
0.99 |
R6440:Sgsm1
|
UTSW |
5 |
113,279,131 (GRCm38) |
critical splice donor site |
probably null |
|
R6831:Sgsm1
|
UTSW |
5 |
113,280,380 (GRCm38) |
missense |
probably damaging |
0.97 |
R7307:Sgsm1
|
UTSW |
5 |
113,273,646 (GRCm38) |
missense |
probably benign |
0.00 |
R7309:Sgsm1
|
UTSW |
5 |
113,268,846 (GRCm38) |
splice site |
probably null |
|
R7387:Sgsm1
|
UTSW |
5 |
113,263,700 (GRCm38) |
missense |
probably damaging |
1.00 |
R7439:Sgsm1
|
UTSW |
5 |
113,274,321 (GRCm38) |
missense |
probably damaging |
0.99 |
R7485:Sgsm1
|
UTSW |
5 |
113,279,635 (GRCm38) |
splice site |
probably null |
|
R7624:Sgsm1
|
UTSW |
5 |
113,274,335 (GRCm38) |
nonsense |
probably null |
|
R7632:Sgsm1
|
UTSW |
5 |
113,276,082 (GRCm38) |
missense |
possibly damaging |
0.54 |
R7669:Sgsm1
|
UTSW |
5 |
113,253,024 (GRCm38) |
missense |
probably damaging |
1.00 |
R7727:Sgsm1
|
UTSW |
5 |
113,274,327 (GRCm38) |
missense |
possibly damaging |
0.95 |
R7732:Sgsm1
|
UTSW |
5 |
113,266,330 (GRCm38) |
missense |
probably benign |
0.26 |
R7961:Sgsm1
|
UTSW |
5 |
113,282,644 (GRCm38) |
missense |
probably damaging |
1.00 |
R8088:Sgsm1
|
UTSW |
5 |
113,255,268 (GRCm38) |
missense |
probably damaging |
1.00 |
R8213:Sgsm1
|
UTSW |
5 |
113,251,011 (GRCm38) |
missense |
probably damaging |
1.00 |
R8278:Sgsm1
|
UTSW |
5 |
113,260,092 (GRCm38) |
missense |
probably damaging |
0.98 |
R8480:Sgsm1
|
UTSW |
5 |
113,263,418 (GRCm38) |
missense |
probably benign |
0.01 |
R8796:Sgsm1
|
UTSW |
5 |
113,263,257 (GRCm38) |
missense |
probably benign |
0.15 |
R8816:Sgsm1
|
UTSW |
5 |
113,287,231 (GRCm38) |
missense |
probably damaging |
1.00 |
R8904:Sgsm1
|
UTSW |
5 |
113,273,629 (GRCm38) |
missense |
probably benign |
0.00 |
R8905:Sgsm1
|
UTSW |
5 |
113,273,629 (GRCm38) |
missense |
probably benign |
0.00 |
R8952:Sgsm1
|
UTSW |
5 |
113,284,995 (GRCm38) |
missense |
probably damaging |
1.00 |
R9046:Sgsm1
|
UTSW |
5 |
113,288,859 (GRCm38) |
missense |
probably damaging |
1.00 |
R9162:Sgsm1
|
UTSW |
5 |
113,282,711 (GRCm38) |
missense |
probably damaging |
1.00 |
R9249:Sgsm1
|
UTSW |
5 |
113,280,335 (GRCm38) |
missense |
possibly damaging |
0.86 |
R9375:Sgsm1
|
UTSW |
5 |
113,274,273 (GRCm38) |
missense |
unknown |
|
R9377:Sgsm1
|
UTSW |
5 |
113,288,875 (GRCm38) |
missense |
probably damaging |
1.00 |
R9461:Sgsm1
|
UTSW |
5 |
113,276,032 (GRCm38) |
critical splice donor site |
probably null |
|
R9662:Sgsm1
|
UTSW |
5 |
113,279,231 (GRCm38) |
missense |
probably benign |
0.03 |
R9722:Sgsm1
|
UTSW |
5 |
113,280,341 (GRCm38) |
missense |
possibly damaging |
0.75 |
R9726:Sgsm1
|
UTSW |
5 |
113,310,552 (GRCm38) |
missense |
probably benign |
|
Z1177:Sgsm1
|
UTSW |
5 |
113,282,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTAAAGTCTGTGAAGGCAGAGG -3'
(R):5'- TCTTAGCACTGAAGACAGCGTCTTG -3'
Sequencing Primer
(F):5'- GAGGGCAacatggtggc -3'
(R):5'- AGATAGCCTTGAGAGTGACCTCC -3'
|
Posted On |
2014-04-13 |