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, D5Bwg1524e, 2410098H20Rik |
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 |
113391086-113458652 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113411135 bp (GRCm39)
|
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 |
3110009E18Rik |
T |
C |
1: 120,099,203 (GRCm39) |
S99P |
possibly damaging |
Het |
Abca16 |
T |
A |
7: 120,139,928 (GRCm39) |
I1530N |
probably benign |
Het |
Abcc9 |
T |
G |
6: 142,610,361 (GRCm39) |
Q601P |
probably damaging |
Het |
Acap3 |
A |
G |
4: 155,980,631 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
A |
T |
13: 70,939,913 (GRCm39) |
|
probably null |
Het |
Alpk2 |
G |
C |
18: 65,483,275 (GRCm39) |
S244R |
probably benign |
Het |
Aoc1l1 |
T |
C |
6: 48,952,398 (GRCm39) |
F108L |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
Bend5 |
C |
A |
4: 111,316,960 (GRCm39) |
D374E |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,397,671 (GRCm39) |
D1014G |
possibly damaging |
Het |
Ccer2 |
G |
T |
7: 28,456,822 (GRCm39) |
G189* |
probably null |
Het |
Ces2h |
A |
G |
8: 105,741,118 (GRCm39) |
T37A |
probably benign |
Het |
Cfap68 |
C |
T |
9: 50,675,307 (GRCm39) |
R40Q |
probably damaging |
Het |
Cmah |
T |
C |
13: 24,623,203 (GRCm39) |
F213L |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,453,122 (GRCm39) |
E390G |
probably benign |
Het |
Coq7 |
C |
T |
7: 118,128,897 (GRCm39) |
R46Q |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,320,451 (GRCm39) |
D136V |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,198,217 (GRCm39) |
L237P |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,998,692 (GRCm39) |
L549P |
unknown |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Dis3 |
G |
T |
14: 99,316,862 (GRCm39) |
Q825K |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 117,982,465 (GRCm39) |
R2568Q |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,538,279 (GRCm39) |
R2312S |
possibly damaging |
Het |
Dock9 |
C |
T |
14: 121,783,476 (GRCm39) |
E2041K |
probably damaging |
Het |
Eci1 |
A |
G |
17: 24,658,064 (GRCm39) |
E282G |
probably benign |
Het |
Egf |
T |
A |
3: 129,484,427 (GRCm39) |
T464S |
probably benign |
Het |
Eif4g3 |
C |
T |
4: 137,824,613 (GRCm39) |
P97S |
probably damaging |
Het |
Emsy |
A |
G |
7: 98,242,944 (GRCm39) |
V1065A |
possibly damaging |
Het |
Ep400 |
G |
T |
5: 110,856,032 (GRCm39) |
|
probably benign |
Het |
Fam13a |
A |
C |
6: 58,916,332 (GRCm39) |
I607S |
probably damaging |
Het |
Fam241b |
A |
G |
10: 61,944,728 (GRCm39) |
S113P |
probably damaging |
Het |
Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
Fnip2 |
C |
A |
3: 79,389,072 (GRCm39) |
C553F |
probably damaging |
Het |
Frmd3 |
G |
T |
4: 73,931,995 (GRCm39) |
|
probably benign |
Het |
Grm4 |
G |
A |
17: 27,653,775 (GRCm39) |
S470L |
probably benign |
Het |
Gucy2e |
T |
A |
11: 69,117,070 (GRCm39) |
I784F |
probably damaging |
Het |
H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,310,419 (GRCm39) |
T3338S |
possibly damaging |
Het |
Idh1 |
C |
T |
1: 65,207,697 (GRCm39) |
G161R |
probably damaging |
Het |
Idi1 |
T |
C |
13: 8,936,945 (GRCm39) |
|
probably benign |
Het |
Idi2l |
A |
T |
13: 8,990,680 (GRCm39) |
|
probably benign |
Het |
Kcnq2 |
C |
T |
2: 180,776,618 (GRCm39) |
G90S |
probably damaging |
Het |
Klhl29 |
A |
G |
12: 5,134,486 (GRCm39) |
Y642H |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,443,994 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
T |
4: 123,334,486 (GRCm39) |
F4420I |
probably benign |
Het |
Me1 |
A |
G |
9: 86,469,096 (GRCm39) |
S470P |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,920,605 (GRCm39) |
S71P |
probably damaging |
Het |
Mfsd3 |
T |
C |
15: 76,586,979 (GRCm39) |
L273P |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,361,207 (GRCm39) |
K757R |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,662,013 (GRCm39) |
V782D |
probably damaging |
Het |
Nab2 |
C |
G |
10: 127,500,916 (GRCm39) |
E59Q |
probably damaging |
Het |
Nfyc |
A |
T |
4: 120,618,921 (GRCm39) |
N244K |
probably damaging |
Het |
Nupr2 |
A |
G |
5: 129,937,672 (GRCm39) |
I80M |
probably damaging |
Het |
Or4c15b |
T |
C |
2: 89,113,401 (GRCm39) |
I46M |
probably benign |
Het |
Or51f1d |
A |
G |
7: 102,700,576 (GRCm39) |
T24A |
probably benign |
Het |
Or5a1 |
A |
G |
19: 12,097,696 (GRCm39) |
C115R |
probably damaging |
Het |
Pkn3 |
A |
G |
2: 29,977,065 (GRCm39) |
T602A |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,094,301 (GRCm39) |
V561D |
probably benign |
Het |
Psd2 |
T |
A |
18: 36,138,843 (GRCm39) |
V489E |
probably benign |
Het |
Rasal2 |
T |
C |
1: 157,057,629 (GRCm39) |
T181A |
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,909,886 (GRCm39) |
M1T |
probably null |
Het |
Slc5a10 |
C |
A |
11: 61,564,767 (GRCm39) |
G404V |
possibly damaging |
Het |
Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
Son |
A |
G |
16: 91,456,622 (GRCm39) |
K1790E |
probably damaging |
Het |
Spata31e5 |
T |
C |
1: 28,816,505 (GRCm39) |
E509G |
probably damaging |
Het |
Syde2 |
A |
G |
3: 145,708,176 (GRCm39) |
|
probably benign |
Het |
Tmem126a |
T |
C |
7: 90,102,026 (GRCm39) |
I58V |
probably benign |
Het |
Vmn2r8 |
T |
C |
5: 108,950,040 (GRCm39) |
Y269C |
probably damaging |
Het |
Wdr87-ps |
C |
T |
7: 29,229,004 (GRCm39) |
|
noncoding transcript |
Het |
Yeats2 |
T |
A |
16: 20,008,115 (GRCm39) |
S416T |
probably damaging |
Het |
Zfp40 |
A |
T |
17: 23,394,843 (GRCm39) |
H513Q |
probably damaging |
Het |
|
Other mutations in Sgsm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Sgsm1
|
APN |
5 |
113,392,930 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00503:Sgsm1
|
APN |
5 |
113,424,008 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01377:Sgsm1
|
APN |
5 |
113,424,048 (GRCm39) |
splice site |
probably benign |
|
IGL01602:Sgsm1
|
APN |
5 |
113,433,531 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01605:Sgsm1
|
APN |
5 |
113,433,531 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01669:Sgsm1
|
APN |
5 |
113,411,356 (GRCm39) |
missense |
probably benign |
|
IGL01920:Sgsm1
|
APN |
5 |
113,421,471 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01951:Sgsm1
|
APN |
5 |
113,434,633 (GRCm39) |
splice site |
probably benign |
|
IGL02387:Sgsm1
|
APN |
5 |
113,400,929 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02690:Sgsm1
|
APN |
5 |
113,434,633 (GRCm39) |
splice site |
probably benign |
|
IGL03177:Sgsm1
|
APN |
5 |
113,398,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03186:Sgsm1
|
APN |
5 |
113,432,887 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03398:Sgsm1
|
APN |
5 |
113,403,182 (GRCm39) |
missense |
possibly damaging |
0.67 |
caliente
|
UTSW |
5 |
113,428,328 (GRCm39) |
intron |
probably benign |
|
Chili
|
UTSW |
5 |
113,405,989 (GRCm39) |
intron |
probably benign |
|
pimiento
|
UTSW |
5 |
113,411,123 (GRCm39) |
missense |
probably benign |
0.15 |
R0048:Sgsm1
|
UTSW |
5 |
113,416,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R0058:Sgsm1
|
UTSW |
5 |
113,432,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R0058:Sgsm1
|
UTSW |
5 |
113,432,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Sgsm1
|
UTSW |
5 |
113,436,702 (GRCm39) |
missense |
probably benign |
0.01 |
R0085:Sgsm1
|
UTSW |
5 |
113,427,136 (GRCm39) |
splice site |
probably benign |
|
R0099:Sgsm1
|
UTSW |
5 |
113,422,226 (GRCm39) |
splice site |
probably benign |
|
R0269:Sgsm1
|
UTSW |
5 |
113,434,795 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0310:Sgsm1
|
UTSW |
5 |
113,411,571 (GRCm39) |
missense |
probably benign |
0.00 |
R0325:Sgsm1
|
UTSW |
5 |
113,436,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R0420:Sgsm1
|
UTSW |
5 |
113,411,625 (GRCm39) |
missense |
probably benign |
0.16 |
R0594:Sgsm1
|
UTSW |
5 |
113,458,428 (GRCm39) |
missense |
probably benign |
0.00 |
R0599:Sgsm1
|
UTSW |
5 |
113,392,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Sgsm1
|
UTSW |
5 |
113,432,989 (GRCm39) |
splice site |
probably benign |
|
R0744:Sgsm1
|
UTSW |
5 |
113,427,050 (GRCm39) |
missense |
probably benign |
0.38 |
R0833:Sgsm1
|
UTSW |
5 |
113,427,050 (GRCm39) |
missense |
probably benign |
0.38 |
R0919:Sgsm1
|
UTSW |
5 |
113,406,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R0944:Sgsm1
|
UTSW |
5 |
113,413,740 (GRCm39) |
missense |
probably benign |
0.40 |
R1169:Sgsm1
|
UTSW |
5 |
113,427,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R1232:Sgsm1
|
UTSW |
5 |
113,421,577 (GRCm39) |
nonsense |
probably null |
|
R1473:Sgsm1
|
UTSW |
5 |
113,411,123 (GRCm39) |
missense |
probably benign |
0.15 |
R1796:Sgsm1
|
UTSW |
5 |
113,421,483 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1878:Sgsm1
|
UTSW |
5 |
113,411,381 (GRCm39) |
missense |
probably damaging |
0.97 |
R2084:Sgsm1
|
UTSW |
5 |
113,433,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R3855:Sgsm1
|
UTSW |
5 |
113,411,125 (GRCm39) |
missense |
probably benign |
0.01 |
R3856:Sgsm1
|
UTSW |
5 |
113,411,125 (GRCm39) |
missense |
probably benign |
0.01 |
R4294:Sgsm1
|
UTSW |
5 |
113,433,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R4373:Sgsm1
|
UTSW |
5 |
113,405,989 (GRCm39) |
intron |
probably benign |
|
R4558:Sgsm1
|
UTSW |
5 |
113,405,977 (GRCm39) |
intron |
probably benign |
|
R4610:Sgsm1
|
UTSW |
5 |
113,403,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Sgsm1
|
UTSW |
5 |
113,407,913 (GRCm39) |
critical splice donor site |
probably null |
|
R4838:Sgsm1
|
UTSW |
5 |
113,430,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R4890:Sgsm1
|
UTSW |
5 |
113,428,328 (GRCm39) |
intron |
probably benign |
|
R4992:Sgsm1
|
UTSW |
5 |
113,430,486 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5366:Sgsm1
|
UTSW |
5 |
113,398,905 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5776:Sgsm1
|
UTSW |
5 |
113,398,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Sgsm1
|
UTSW |
5 |
113,398,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R6000:Sgsm1
|
UTSW |
5 |
113,434,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R6354:Sgsm1
|
UTSW |
5 |
113,430,522 (GRCm39) |
missense |
probably damaging |
0.99 |
R6440:Sgsm1
|
UTSW |
5 |
113,426,997 (GRCm39) |
critical splice donor site |
probably null |
|
R6831:Sgsm1
|
UTSW |
5 |
113,428,246 (GRCm39) |
missense |
probably damaging |
0.97 |
R7307:Sgsm1
|
UTSW |
5 |
113,421,512 (GRCm39) |
missense |
probably benign |
0.00 |
R7309:Sgsm1
|
UTSW |
5 |
113,416,712 (GRCm39) |
splice site |
probably null |
|
R7387:Sgsm1
|
UTSW |
5 |
113,411,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R7439:Sgsm1
|
UTSW |
5 |
113,422,187 (GRCm39) |
missense |
probably damaging |
0.99 |
R7485:Sgsm1
|
UTSW |
5 |
113,427,501 (GRCm39) |
splice site |
probably null |
|
R7624:Sgsm1
|
UTSW |
5 |
113,422,201 (GRCm39) |
nonsense |
probably null |
|
R7632:Sgsm1
|
UTSW |
5 |
113,423,948 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7669:Sgsm1
|
UTSW |
5 |
113,400,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R7727:Sgsm1
|
UTSW |
5 |
113,422,193 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7732:Sgsm1
|
UTSW |
5 |
113,414,196 (GRCm39) |
missense |
probably benign |
0.26 |
R7961:Sgsm1
|
UTSW |
5 |
113,430,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R8088:Sgsm1
|
UTSW |
5 |
113,403,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R8213:Sgsm1
|
UTSW |
5 |
113,398,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R8278:Sgsm1
|
UTSW |
5 |
113,407,958 (GRCm39) |
missense |
probably damaging |
0.98 |
R8480:Sgsm1
|
UTSW |
5 |
113,411,284 (GRCm39) |
missense |
probably benign |
0.01 |
R8796:Sgsm1
|
UTSW |
5 |
113,411,123 (GRCm39) |
missense |
probably benign |
0.15 |
R8816:Sgsm1
|
UTSW |
5 |
113,435,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R8904:Sgsm1
|
UTSW |
5 |
113,421,495 (GRCm39) |
missense |
probably benign |
0.00 |
R8905:Sgsm1
|
UTSW |
5 |
113,421,495 (GRCm39) |
missense |
probably benign |
0.00 |
R8952:Sgsm1
|
UTSW |
5 |
113,432,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R9046:Sgsm1
|
UTSW |
5 |
113,436,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R9162:Sgsm1
|
UTSW |
5 |
113,430,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9249:Sgsm1
|
UTSW |
5 |
113,428,201 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9375:Sgsm1
|
UTSW |
5 |
113,422,139 (GRCm39) |
missense |
unknown |
|
R9377:Sgsm1
|
UTSW |
5 |
113,436,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R9461:Sgsm1
|
UTSW |
5 |
113,423,898 (GRCm39) |
critical splice donor site |
probably null |
|
R9662:Sgsm1
|
UTSW |
5 |
113,427,097 (GRCm39) |
missense |
probably benign |
0.03 |
R9722:Sgsm1
|
UTSW |
5 |
113,428,207 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9726:Sgsm1
|
UTSW |
5 |
113,458,418 (GRCm39) |
missense |
probably benign |
|
Z1177:Sgsm1
|
UTSW |
5 |
113,430,576 (GRCm39) |
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 |