Incidental Mutation 'R4890:Sgsm1'
ID |
377248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsm1
|
Ensembl Gene |
ENSMUSG00000042216 |
Gene Name |
small G protein signaling modulator 1 |
Synonyms |
Rutbc2, D5Bwg1524e, 2410098H20Rik |
MMRRC Submission |
042495-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4890 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
113391086-113458652 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to A
at 113428328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048112]
[ENSMUST00000057209]
[ENSMUST00000112324]
[ENSMUST00000112325]
[ENSMUST00000154248]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048112
|
SMART Domains |
Protein: ENSMUSP00000046544 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 |
TBC
|
559 |
1053 |
2.88e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057209
|
SMART Domains |
Protein: ENSMUSP00000084106 Gene: ENSMUSG00000042216
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: ENSMUST00000112324
|
SMART Domains |
Protein: ENSMUSP00000107943 Gene: ENSMUSG00000042216
Domain | Start | End | E-Value | Type |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
|
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: ENSMUST00000138266
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147856
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156340
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
99% (81/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
T |
C |
1: 130,668,725 (GRCm39) |
|
probably benign |
Het |
Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,260,908 (GRCm39) |
N916S |
probably damaging |
Het |
Aox1 |
T |
C |
1: 58,373,862 (GRCm39) |
V841A |
probably benign |
Het |
Baz2b |
A |
T |
2: 59,756,383 (GRCm39) |
M983K |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,222,430 (GRCm39) |
F682L |
probably damaging |
Het |
Ccsap |
T |
G |
8: 124,572,160 (GRCm39) |
E114A |
possibly damaging |
Het |
Cept1 |
T |
A |
3: 106,413,123 (GRCm39) |
T201S |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,883,476 (GRCm39) |
M232V |
probably benign |
Het |
Chsy1 |
A |
G |
7: 65,759,974 (GRCm39) |
R106G |
probably benign |
Het |
Cit |
C |
T |
5: 116,126,182 (GRCm39) |
|
probably benign |
Het |
Cldn7 |
G |
A |
11: 69,857,918 (GRCm39) |
V42I |
probably benign |
Het |
Cnnm4 |
T |
A |
1: 36,511,345 (GRCm39) |
V191E |
probably benign |
Het |
Cntf |
A |
T |
19: 12,741,326 (GRCm39) |
V178D |
possibly damaging |
Het |
Ctsz |
C |
A |
2: 174,270,393 (GRCm39) |
R263L |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,429,353 (GRCm39) |
M407T |
probably benign |
Het |
Dennd1a |
A |
T |
2: 38,066,238 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,306,164 (GRCm39) |
I368V |
possibly damaging |
Het |
Gak |
A |
T |
5: 108,728,742 (GRCm39) |
|
probably benign |
Het |
Hepacam2 |
A |
T |
6: 3,487,231 (GRCm39) |
V42D |
probably damaging |
Het |
Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
Insr |
T |
A |
8: 3,248,234 (GRCm39) |
Q437L |
probably benign |
Het |
Itga8 |
G |
A |
2: 12,198,102 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,233,868 (GRCm39) |
C732S |
probably benign |
Het |
Kdsr |
T |
C |
1: 106,680,964 (GRCm39) |
K78R |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,414,868 (GRCm39) |
S785P |
possibly damaging |
Het |
Lbr |
C |
A |
1: 181,645,133 (GRCm39) |
L506F |
probably benign |
Het |
Macf1 |
C |
A |
4: 123,342,031 (GRCm39) |
C2720F |
probably damaging |
Het |
Mapt |
G |
A |
11: 104,218,975 (GRCm39) |
D738N |
probably damaging |
Het |
Mroh9 |
T |
C |
1: 162,854,093 (GRCm39) |
Y769C |
probably damaging |
Het |
Mylk2 |
A |
G |
2: 152,762,274 (GRCm39) |
N515S |
possibly damaging |
Het |
Myorg |
G |
A |
4: 41,498,877 (GRCm39) |
T251M |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
Nrxn2 |
A |
T |
19: 6,498,308 (GRCm39) |
S258C |
possibly damaging |
Het |
Nudt16l2 |
A |
T |
9: 105,021,786 (GRCm39) |
S87T |
possibly damaging |
Het |
Or52e15 |
G |
A |
7: 104,645,311 (GRCm39) |
H267Y |
probably benign |
Het |
Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
Or6c1b |
C |
T |
10: 129,272,948 (GRCm39) |
T89I |
probably benign |
Het |
Or6z5 |
T |
A |
7: 6,477,848 (GRCm39) |
C246* |
probably null |
Het |
Or8c15 |
G |
T |
9: 38,120,586 (GRCm39) |
C79F |
probably benign |
Het |
Osgin2 |
G |
A |
4: 16,013,739 (GRCm39) |
|
probably benign |
Het |
Otud3 |
G |
A |
4: 138,641,060 (GRCm39) |
R27W |
probably damaging |
Het |
Pcare |
C |
T |
17: 72,059,306 (GRCm39) |
V124I |
possibly damaging |
Het |
Pcdhga12 |
T |
A |
18: 37,901,290 (GRCm39) |
F707L |
possibly damaging |
Het |
Pik3r1 |
T |
C |
13: 101,894,118 (GRCm39) |
E17G |
probably damaging |
Het |
Pramel19 |
A |
G |
4: 101,798,788 (GRCm39) |
E253G |
probably damaging |
Het |
Prickle4 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
17: 48,000,806 (GRCm39) |
|
probably benign |
Het |
Prokr1 |
G |
A |
6: 87,565,678 (GRCm39) |
R56W |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 23,024,957 (GRCm39) |
C1731Y |
probably damaging |
Het |
Rbm15b |
A |
T |
9: 106,763,028 (GRCm39) |
F380Y |
possibly damaging |
Het |
Rfc5 |
G |
A |
5: 117,524,885 (GRCm39) |
L56F |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,995,577 (GRCm39) |
|
probably null |
Het |
Sec23ip |
A |
G |
7: 128,354,634 (GRCm39) |
N297D |
probably damaging |
Het |
Sema3c |
A |
T |
5: 17,880,157 (GRCm39) |
H259L |
probably benign |
Het |
Shisal2a |
A |
G |
4: 108,224,998 (GRCm39) |
V188A |
probably benign |
Het |
Sipa1l2 |
T |
A |
8: 126,218,606 (GRCm39) |
S244C |
probably damaging |
Het |
Slc39a5 |
T |
C |
10: 128,234,316 (GRCm39) |
I196V |
probably benign |
Het |
Smim22 |
G |
A |
16: 4,825,722 (GRCm39) |
A36T |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,747,588 (GRCm39) |
I408V |
probably benign |
Het |
Sult2a5 |
A |
G |
7: 13,359,311 (GRCm39) |
I96V |
probably benign |
Het |
Tmcc2 |
C |
A |
1: 132,308,517 (GRCm39) |
A126S |
probably benign |
Het |
Tsc2 |
A |
T |
17: 24,819,009 (GRCm39) |
S1276T |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,788,103 (GRCm39) |
S843G |
probably benign |
Het |
Tubd1 |
G |
C |
11: 86,443,621 (GRCm39) |
V110L |
possibly damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,534 (GRCm39) |
V59D |
probably damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,697,024 (GRCm39) |
R687G |
probably damaging |
Het |
Vsig8 |
T |
A |
1: 172,389,142 (GRCm39) |
H131Q |
probably benign |
Het |
Zbtb42 |
C |
A |
12: 112,646,861 (GRCm39) |
Y345* |
probably null |
Het |
Zfp612 |
T |
A |
8: 110,816,576 (GRCm39) |
C594* |
probably null |
Het |
Zfp940 |
A |
G |
7: 29,544,824 (GRCm39) |
V361A |
probably benign |
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 |
R1535:Sgsm1
|
UTSW |
5 |
113,411,135 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
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'- CACCTGAGTGTCTCCTAATGTTG -3'
(R):5'- AGAGTGCTGATTGGTCACC -3'
Sequencing Primer
(F):5'- GGACAGTGTCCCACAAAGGTC -3'
(R):5'- ATTGGTCACCCTGGGTCAG -3'
|
Posted On |
2016-03-17 |