Incidental Mutation 'R0099:Sgsm1'
| ID |
33144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm1
|
| Ensembl Gene |
ENSMUSG00000042216 |
| Gene Name |
small G protein signaling modulator 1 |
| Synonyms |
Rutbc2, D5Bwg1524e, 2410098H20Rik |
| MMRRC Submission |
038385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0099 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
113391086-113458652 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 113422226 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156340
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018M24Rik |
C |
T |
14: 51,134,179 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm1 |
A |
C |
3: 59,843,856 (GRCm39) |
K183N |
probably benign |
Het |
| Acad10 |
A |
C |
5: 121,759,353 (GRCm39) |
D1043E |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,449 (GRCm39) |
G173R |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,329,721 (GRCm39) |
S192I |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,302,819 (GRCm39) |
V1010E |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,268,648 (GRCm39) |
E311G |
probably damaging |
Het |
| Col4a3 |
A |
C |
1: 82,695,714 (GRCm39) |
E1638A |
probably benign |
Het |
| Cstf2t |
A |
G |
19: 31,061,231 (GRCm39) |
R256G |
probably benign |
Het |
| Cyp4a12a |
T |
C |
4: 115,183,869 (GRCm39) |
L225P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,240,080 (GRCm39) |
R479H |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,673,079 (GRCm39) |
I917V |
probably benign |
Het |
| Fam76a |
G |
T |
4: 132,638,098 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,762,776 (GRCm39) |
|
probably null |
Het |
| Gli1 |
A |
G |
10: 127,171,875 (GRCm39) |
V293A |
probably damaging |
Het |
| Gm10782 |
T |
A |
13: 56,510,956 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,509,158 (GRCm39) |
E490G |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,316,193 (GRCm39) |
G4362R |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,749,778 (GRCm39) |
|
probably benign |
Het |
| Ikzf4 |
T |
A |
10: 128,470,066 (GRCm39) |
I485F |
probably damaging |
Het |
| Irf5 |
A |
G |
6: 29,533,966 (GRCm39) |
T34A |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,361,402 (GRCm39) |
C59* |
probably null |
Het |
| Kynu |
T |
A |
2: 43,519,065 (GRCm39) |
|
probably null |
Het |
| Ly6g6c |
T |
C |
17: 35,287,891 (GRCm39) |
V61A |
probably damaging |
Het |
| Manea |
A |
C |
4: 26,328,104 (GRCm39) |
I312M |
probably damaging |
Het |
| Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
| Mthfs |
A |
T |
9: 89,108,216 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,150,173 (GRCm39) |
T1877A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
| Nepn |
A |
G |
10: 52,277,181 (GRCm39) |
S306G |
probably damaging |
Het |
| Nol8 |
T |
C |
13: 49,826,165 (GRCm39) |
V995A |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,165 (GRCm39) |
F176S |
probably damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,504 (GRCm39) |
T49S |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,750 (GRCm39) |
V275E |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,957 (GRCm39) |
I92V |
possibly damaging |
Het |
| Pde1a |
T |
A |
2: 79,698,657 (GRCm39) |
|
probably null |
Het |
| Phf14 |
A |
G |
6: 11,987,696 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,899,100 (GRCm39) |
Q1026* |
probably null |
Het |
| Polr2b |
T |
A |
5: 77,468,797 (GRCm39) |
|
probably benign |
Het |
| Ppp1r36 |
G |
T |
12: 76,483,056 (GRCm39) |
|
probably null |
Het |
| Prdm14 |
A |
T |
1: 13,189,169 (GRCm39) |
C392S |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,509,686 (GRCm39) |
S436P |
possibly damaging |
Het |
| Rfc2 |
A |
T |
5: 134,624,135 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
T |
10: 84,730,168 (GRCm39) |
M437L |
probably benign |
Het |
| Rgs17 |
T |
A |
10: 5,792,583 (GRCm39) |
R74S |
probably benign |
Het |
| Rnf139 |
C |
A |
15: 58,771,264 (GRCm39) |
L430I |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,668,698 (GRCm39) |
T1126S |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,573,398 (GRCm39) |
E602G |
probably damaging |
Het |
| Stpg2 |
T |
C |
3: 138,948,954 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
T |
C |
13: 41,283,001 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
T |
14: 50,598,275 (GRCm39) |
N87I |
probably benign |
Het |
| Tril |
A |
G |
6: 53,795,348 (GRCm39) |
F625L |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,812,062 (GRCm39) |
V434E |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,313,111 (GRCm39) |
G533R |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,778 (GRCm39) |
L75P |
probably damaging |
Het |
| Zfp93 |
G |
T |
7: 23,974,900 (GRCm39) |
R295L |
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 |
|
|
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 |
|
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'- CCCAAGTTGAGGATGCTGTCACTG -3'
(R):5'- CAACGCTATGAATGGCTGATCCCC -3'
Sequencing Primer
(F):5'- GTCTGAGAGATACCAAGTACTCTGC -3'
(R):5'- TGGCTGATCCCCCCAAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation