Incidental Mutation 'R9046:Sgsm1'
| ID |
688042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm1
|
| Ensembl Gene |
ENSMUSG00000042216 |
| Gene Name |
small G protein signaling modulator 1 |
| Synonyms |
Rutbc2, 2410098H20Rik, D5Bwg1524e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
113243220-113310786 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113288859 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 35
(V35A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048112]
[ENSMUST00000112325]
[ENSMUST00000154248]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048112
AA Change: V35A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: V35A
| 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 damaging
Transcript: ENSMUST00000112325
AA Change: V35A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: V35A
| 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 |
probably damaging
Transcript: ENSMUST00000154248
AA Change: V35A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: V35A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,293,525 (GRCm38) |
V1796A |
probably benign |
Het |
| Abca3 |
A |
G |
17: 24,398,503 (GRCm38) |
D1058G |
probably damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,448,114 (GRCm38) |
V431A |
probably benign |
Het |
| Amdhd1 |
C |
T |
10: 93,527,225 (GRCm38) |
D334N |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,452,493 (GRCm38) |
M252K |
probably benign |
Het |
| Anxa3 |
G |
A |
5: 96,828,767 (GRCm38) |
R204Q |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,584,173 (GRCm38) |
T352A |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,811,765 (GRCm38) |
E464G |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,798,591 (GRCm38) |
|
probably benign |
Het |
| Brwd1 |
T |
A |
16: 96,028,202 (GRCm38) |
S1100C |
probably damaging |
Het |
| Ccm2l |
T |
A |
2: 153,074,800 (GRCm38) |
I317N |
probably damaging |
Het |
| Ccr9 |
C |
T |
9: 123,779,766 (GRCm38) |
T171I |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,382,524 (GRCm38) |
|
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,318,760 (GRCm38) |
I735V |
probably benign |
Het |
| Dok6 |
C |
A |
18: 89,769,097 (GRCm38) |
V14L |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 62,827,260 (GRCm38) |
Y436F |
possibly damaging |
Het |
| Fam126b |
T |
C |
1: 58,529,786 (GRCm38) |
T545A |
probably damaging |
Het |
| Fndc9 |
G |
T |
11: 46,238,062 (GRCm38) |
W136L |
probably damaging |
Het |
| Gal3st1 |
G |
A |
11: 3,998,278 (GRCm38) |
V162I |
probably benign |
Het |
| Gart |
A |
G |
16: 91,621,673 (GRCm38) |
S973P |
probably damaging |
Het |
| Gm8909 |
A |
T |
17: 36,165,143 (GRCm38) |
|
probably null |
Het |
| Hsp90ab1 |
G |
A |
17: 45,569,043 (GRCm38) |
P516S |
probably damaging |
Het |
| Htr1a |
G |
C |
13: 105,445,308 (GRCm38) |
G352A |
probably damaging |
Het |
| Isg20 |
A |
T |
7: 78,920,075 (GRCm38) |
R265* |
probably null |
Het |
| Kcmf1 |
C |
T |
6: 72,848,472 (GRCm38) |
A213T |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,595,556 (GRCm38) |
V1007A |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,865,589 (GRCm38) |
E81G |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,947,053 (GRCm38) |
V600F |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,586,054 (GRCm38) |
V471A |
probably benign |
Het |
| Lap3 |
A |
G |
5: 45,495,220 (GRCm38) |
T53A |
probably damaging |
Het |
| Lmntd1 |
A |
T |
6: 145,419,839 (GRCm38) |
I188N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,395,236 (GRCm38) |
I1868V |
possibly damaging |
Het |
| Mef2d |
A |
T |
3: 88,167,518 (GRCm38) |
Y337F |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,547,004 (GRCm38) |
T7A |
possibly damaging |
Het |
| Myo3a |
G |
T |
2: 22,558,355 (GRCm38) |
L985F |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,934,664 (GRCm38) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,412,525 (GRCm38) |
G77S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 69,144,779 (GRCm38) |
V13L |
probably benign |
Het |
| Nup155 |
TGGG |
TGG |
15: 8,128,435 (GRCm38) |
|
probably null |
Het |
| Olfr1248 |
C |
T |
2: 89,618,152 (GRCm38) |
|
probably benign |
Het |
| Olfr127 |
A |
G |
17: 37,904,254 (GRCm38) |
K236R |
probably damaging |
Het |
| Olfr139 |
T |
C |
11: 74,044,458 (GRCm38) |
D272G |
probably damaging |
Het |
| Olfr1453 |
T |
C |
19: 13,027,751 (GRCm38) |
N193D |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,627,470 (GRCm38) |
K1025T |
probably damaging |
Het |
| Parvb |
T |
C |
15: 84,290,438 (GRCm38) |
I144T |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm38) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 14,954,898 (GRCm38) |
V195A |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,635,653 (GRCm38) |
M257K |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,893,380 (GRCm38) |
|
probably null |
Het |
| Ptprt |
G |
A |
2: 161,530,441 (GRCm38) |
T1437M |
possibly damaging |
Het |
| Ptx3 |
T |
C |
3: 66,224,732 (GRCm38) |
F225L |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,728,461 (GRCm38) |
K50E |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,841,570 (GRCm38) |
N427D |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,602,833 (GRCm38) |
A114T |
possibly damaging |
Het |
| Slc22a2 |
G |
A |
17: 12,615,347 (GRCm38) |
A501T |
probably null |
Het |
| Slu7 |
G |
A |
11: 43,444,802 (GRCm38) |
C455Y |
probably damaging |
Het |
| Src |
C |
A |
2: 157,465,875 (GRCm38) |
H235N |
probably damaging |
Het |
| Svopl |
T |
A |
6: 38,021,596 (GRCm38) |
M248L |
probably benign |
Het |
| Tbx6 |
G |
A |
7: 126,781,948 (GRCm38) |
|
probably null |
Het |
| Tprgl |
A |
T |
4: 154,158,456 (GRCm38) |
I239N |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,375,126 (GRCm38) |
F350L |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,285,872 (GRCm38) |
Y359C |
probably damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,976,603 (GRCm38) |
S145P |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,054,984 (GRCm38) |
F76I |
probably benign |
Het |
| Xpot |
A |
T |
10: 121,596,244 (GRCm38) |
C916* |
probably null |
Het |
| Zfp236 |
C |
T |
18: 82,618,917 (GRCm38) |
E1415K |
possibly 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 |
|
R1535:Sgsm1
|
UTSW |
5 |
113,263,269 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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'- GGGATCCCGAAATAACTCCAG -3'
(R):5'- TCTGGAAGAGGTGACAGACC -3'
Sequencing Primer
(F):5'- CAGAGTCACAAAGCCCGGTG -3'
(R):5'- TCTACTTCAGACCAAGAGGCTGTAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation