Incidental Mutation 'R9722:Sgsm1'
| ID |
730846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm1
|
| Ensembl Gene |
ENSMUSG00000042216 |
| Gene Name |
small G protein signaling modulator 1 |
| Synonyms |
Rutbc2, 2410098H20Rik, D5Bwg1524e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
113243220-113310786 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113280341 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 327
(H327L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048112]
[ENSMUST00000057209]
[ENSMUST00000112324]
[ENSMUST00000112325]
[ENSMUST00000154248]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048112
AA Change: H327L
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: H327L
| 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: ENSMUST00000057209
AA Change: H40L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: H40L
| 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 damaging
Transcript: ENSMUST00000112324
AA Change: H40L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107943
Gene: ENSMUSG00000042216
AA Change: H40L
| 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
AA Change: H327L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: H327L
| 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 benign
Transcript: ENSMUST00000154248
AA Change: H327L
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: H327L
| 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: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,218,273 (GRCm38) |
I52F |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,359,246 (GRCm38) |
L1017Q |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 97,948,327 (GRCm38) |
D366G |
possibly damaging |
Het |
| Astn2 |
C |
T |
4: 65,913,741 (GRCm38) |
V563I |
probably benign |
Het |
| Atrn |
C |
A |
2: 130,961,616 (GRCm38) |
D575E |
probably damaging |
Het |
| Baz1a |
C |
T |
12: 54,900,097 (GRCm38) |
D1228N |
probably benign |
Het |
| Canx |
A |
G |
11: 50,304,474 (GRCm38) |
S256P |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,802,188 (GRCm38) |
D267E |
probably damaging |
Het |
| Cd209c |
G |
T |
8: 3,945,905 (GRCm38) |
R2S |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,196,308 (GRCm38) |
T1252A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,353,994 (GRCm38) |
Y2523C |
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,416,608 (GRCm38) |
P990L |
probably benign |
Het |
| Dnajc9 |
T |
C |
14: 20,388,211 (GRCm38) |
I108V |
probably benign |
Het |
| Eif2d |
T |
C |
1: 131,165,211 (GRCm38) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,657,457 (GRCm38) |
D881G |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 5,001,215 (GRCm38) |
N531S |
probably benign |
Het |
| Fbxo2 |
G |
A |
4: 148,164,426 (GRCm38) |
R125H |
probably damaging |
Het |
| Foxred1 |
C |
T |
9: 35,206,004 (GRCm38) |
S277N |
possibly damaging |
Het |
| Gemin5 |
T |
C |
11: 58,150,592 (GRCm38) |
E518G |
probably damaging |
Het |
| Gm17655 |
A |
G |
5: 110,046,360 (GRCm38) |
Y519H |
probably benign |
Het |
| Igkv4-57-1 |
A |
T |
6: 69,544,509 (GRCm38) |
W70R |
probably damaging |
Het |
| Krtap4-13 |
A |
G |
11: 99,809,354 (GRCm38) |
S160P |
unknown |
Het |
| Map3k3 |
A |
G |
11: 106,142,535 (GRCm38) |
I205V |
possibly damaging |
Het |
| Map3k4 |
A |
C |
17: 12,271,636 (GRCm38) |
F303V |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,386,267 (GRCm38) |
Q132R |
probably damaging |
Het |
| Myo10 |
T |
A |
15: 25,801,141 (GRCm38) |
V1472E |
probably damaging |
Het |
| Nckap1 |
G |
A |
2: 80,571,224 (GRCm38) |
Q39* |
probably null |
Het |
| Nog |
A |
G |
11: 89,301,570 (GRCm38) |
S151P |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,834,906 (GRCm38) |
S15F |
probably benign |
Het |
| Odf2 |
A |
G |
2: 29,923,582 (GRCm38) |
H647R |
possibly damaging |
Het |
| Olfr821 |
A |
G |
10: 130,033,631 (GRCm38) |
R2G |
probably benign |
Het |
| Pcdhga11 |
T |
C |
18: 37,757,345 (GRCm38) |
S469P |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,556,265 (GRCm38) |
Y434H |
probably damaging |
Het |
| Pfpl |
G |
C |
19: 12,428,933 (GRCm38) |
E183Q |
probably damaging |
Het |
| Pglyrp3 |
A |
G |
3: 92,031,388 (GRCm38) |
K290R |
possibly damaging |
Het |
| Phactr3 |
G |
A |
2: 178,256,250 (GRCm38) |
E86K |
probably damaging |
Het |
| Piezo1 |
A |
C |
8: 122,498,758 (GRCm38) |
L530R |
|
Het |
| Pigg |
A |
T |
5: 108,347,901 (GRCm38) |
I935F |
possibly damaging |
Het |
| Pofut2 |
T |
C |
10: 77,266,925 (GRCm38) |
S282P |
possibly damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,517,665 (GRCm38) |
S337P |
probably benign |
Het |
| Sdr16c5 |
A |
T |
4: 4,005,595 (GRCm38) |
D246E |
probably benign |
Het |
| Slc39a4 |
A |
G |
15: 76,616,011 (GRCm38) |
I113T |
possibly damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,296,957 (GRCm38) |
|
probably null |
Het |
| Snx11 |
A |
G |
11: 96,771,099 (GRCm38) |
S86P |
probably benign |
Het |
| Srm |
T |
A |
4: 148,591,788 (GRCm38) |
|
probably null |
Het |
| Tas2r126 |
T |
C |
6: 42,435,148 (GRCm38) |
I205T |
possibly damaging |
Het |
| Tek |
T |
G |
4: 94,804,302 (GRCm38) |
W216G |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,300,814 (GRCm38) |
S851R |
probably benign |
Het |
| Tnip2 |
A |
G |
5: 34,496,868 (GRCm38) |
V288A |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,891,556 (GRCm38) |
|
probably null |
Het |
| Trim33 |
C |
A |
3: 103,353,830 (GRCm38) |
T1115K |
possibly damaging |
Het |
| Tspan13 |
T |
A |
12: 36,024,018 (GRCm38) |
I40F |
probably damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,577,035 (GRCm38) |
I91V |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,900,646 (GRCm38) |
F115L |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,690,986 (GRCm38) |
P717S |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,389,062 (GRCm38) |
T4910A |
unknown |
Het |
| Zfp599 |
T |
A |
9: 22,249,445 (GRCm38) |
T475S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,946,319 (GRCm38) |
F700I |
probably damaging |
Het |
| Zfp985 |
A |
C |
4: 147,583,161 (GRCm38) |
K162T |
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 |
|
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 |
|
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'- TTCAGAGCTGGCACACTCAG -3'
(R):5'- ACTTGGCAGAGTTGAGCTC -3'
Sequencing Primer
(F):5'- CACTCAGAGAAATAATGCAGTTTGC -3'
(R):5'- GTTGAGCTCCGGTAACTTCATAGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation