Incidental Mutation 'IGL02352:Sgsm2'
ID |
289545 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sgsm2
|
Ensembl Gene |
ENSMUSG00000038351 |
Gene Name |
small G protein signaling modulator 2 |
Synonyms |
D630003G22Rik, Rutbc1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
IGL02352
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
74740087-74787886 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 74782900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057631]
[ENSMUST00000081799]
|
AlphaFold |
Q80U12 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057631
|
SMART Domains |
Protein: ENSMUSP00000050496 Gene: ENSMUSG00000038351
Domain | Start | End | E-Value | Type |
RUN
|
128 |
188 |
4.3e-18 |
SMART |
low complexity region
|
453 |
476 |
N/A |
INTRINSIC |
TBC
|
563 |
965 |
3.57e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081799
|
SMART Domains |
Protein: ENSMUSP00000080489 Gene: ENSMUSG00000038351
Domain | Start | End | E-Value | Type |
RUN
|
128 |
188 |
4.3e-18 |
SMART |
low complexity region
|
446 |
453 |
N/A |
INTRINSIC |
low complexity region
|
498 |
521 |
N/A |
INTRINSIC |
TBC
|
608 |
1010 |
3.57e-34 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
C |
12: 72,941,829 (GRCm39) |
|
probably null |
Het |
Abca5 |
T |
A |
11: 110,166,156 (GRCm39) |
N1540I |
probably benign |
Het |
Adamtsl5 |
T |
A |
10: 80,179,562 (GRCm39) |
|
probably null |
Het |
Aldh2 |
T |
C |
5: 121,713,960 (GRCm39) |
E128G |
probably null |
Het |
Anln |
A |
G |
9: 22,279,708 (GRCm39) |
V494A |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,715,288 (GRCm39) |
L50* |
probably null |
Het |
Atp13a3 |
A |
G |
16: 30,169,902 (GRCm39) |
I392T |
probably damaging |
Het |
C1qtnf5 |
A |
G |
9: 44,019,631 (GRCm39) |
E85G |
possibly damaging |
Het |
Cacna1s |
A |
T |
1: 136,020,990 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
G |
A |
1: 54,311,680 (GRCm39) |
R222H |
probably benign |
Het |
Cdk5rap3 |
A |
T |
11: 96,807,003 (GRCm39) |
I9N |
probably damaging |
Het |
Cmip |
A |
T |
8: 118,137,994 (GRCm39) |
|
probably benign |
Het |
Cyp21a1 |
A |
G |
17: 35,023,196 (GRCm39) |
Y60H |
probably damaging |
Het |
Cyp2d11 |
A |
G |
15: 82,278,121 (GRCm39) |
W10R |
possibly damaging |
Het |
Dock10 |
A |
G |
1: 80,483,378 (GRCm39) |
Y2076H |
probably damaging |
Het |
Dpcd |
G |
T |
19: 45,565,493 (GRCm39) |
A156S |
probably benign |
Het |
Egflam |
T |
C |
15: 7,263,706 (GRCm39) |
N748S |
probably benign |
Het |
Fam227b |
A |
G |
2: 125,988,174 (GRCm39) |
|
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,540,073 (GRCm39) |
I654N |
probably damaging |
Het |
Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
Hrh1 |
C |
A |
6: 114,457,404 (GRCm39) |
N228K |
probably benign |
Het |
Igkv3-2 |
T |
C |
6: 70,675,474 (GRCm39) |
L8P |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,009,267 (GRCm39) |
F734L |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,079,370 (GRCm39) |
Y276C |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,608,208 (GRCm39) |
S178T |
possibly damaging |
Het |
Marchf6 |
C |
T |
15: 31,509,905 (GRCm39) |
C28Y |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,081,931 (GRCm39) |
T356A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,891,853 (GRCm39) |
E6893G |
probably benign |
Het |
Or2l13 |
T |
C |
16: 19,305,927 (GRCm39) |
L113P |
probably damaging |
Het |
Pate7 |
A |
T |
9: 35,689,180 (GRCm39) |
M1K |
probably null |
Het |
Pgap2 |
G |
T |
7: 101,885,346 (GRCm39) |
V71F |
probably damaging |
Het |
Prob1 |
T |
G |
18: 35,785,893 (GRCm39) |
E787A |
possibly damaging |
Het |
Psmd2 |
C |
A |
16: 20,475,691 (GRCm39) |
D430E |
probably benign |
Het |
Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
Serpinb9e |
A |
T |
13: 33,441,803 (GRCm39) |
|
probably benign |
Het |
Slc38a9 |
A |
G |
13: 112,826,720 (GRCm39) |
I153V |
probably benign |
Het |
Slco1b2 |
T |
A |
6: 141,631,251 (GRCm39) |
D628E |
probably damaging |
Het |
Sult2a5 |
T |
C |
7: 13,362,727 (GRCm39) |
S145P |
probably benign |
Het |
Sv2b |
T |
C |
7: 74,786,197 (GRCm39) |
T408A |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,261,122 (GRCm39) |
C1626R |
probably damaging |
Het |
Wdr43 |
C |
T |
17: 71,939,043 (GRCm39) |
T217M |
possibly damaging |
Het |
Wdr95 |
G |
A |
5: 149,504,084 (GRCm39) |
V155M |
probably damaging |
Het |
Wsb1 |
G |
A |
11: 79,141,838 (GRCm39) |
L60F |
probably damaging |
Het |
Wwp2 |
C |
T |
8: 108,267,278 (GRCm39) |
R297* |
probably null |
Het |
Xkr6 |
T |
C |
14: 64,057,156 (GRCm39) |
Y356H |
unknown |
Het |
|
Other mutations in Sgsm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01469:Sgsm2
|
APN |
11 |
74,744,697 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02164:Sgsm2
|
APN |
11 |
74,756,242 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02236:Sgsm2
|
APN |
11 |
74,750,698 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02330:Sgsm2
|
APN |
11 |
74,749,493 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02359:Sgsm2
|
APN |
11 |
74,782,900 (GRCm39) |
splice site |
probably benign |
|
IGL03061:Sgsm2
|
APN |
11 |
74,741,962 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03180:Sgsm2
|
APN |
11 |
74,759,401 (GRCm39) |
critical splice donor site |
probably null |
|
R0208:Sgsm2
|
UTSW |
11 |
74,759,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Sgsm2
|
UTSW |
11 |
74,749,016 (GRCm39) |
splice site |
probably null |
|
R0517:Sgsm2
|
UTSW |
11 |
74,758,477 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0755:Sgsm2
|
UTSW |
11 |
74,756,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Sgsm2
|
UTSW |
11 |
74,759,964 (GRCm39) |
missense |
probably benign |
0.34 |
R1527:Sgsm2
|
UTSW |
11 |
74,744,674 (GRCm39) |
nonsense |
probably null |
|
R1713:Sgsm2
|
UTSW |
11 |
74,787,652 (GRCm39) |
missense |
probably null |
0.04 |
R1962:Sgsm2
|
UTSW |
11 |
74,782,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R2189:Sgsm2
|
UTSW |
11 |
74,743,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R4259:Sgsm2
|
UTSW |
11 |
74,782,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Sgsm2
|
UTSW |
11 |
74,782,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R4408:Sgsm2
|
UTSW |
11 |
74,742,592 (GRCm39) |
missense |
probably damaging |
0.99 |
R4590:Sgsm2
|
UTSW |
11 |
74,741,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6137:Sgsm2
|
UTSW |
11 |
74,741,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R6162:Sgsm2
|
UTSW |
11 |
74,782,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Sgsm2
|
UTSW |
11 |
74,755,995 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6681:Sgsm2
|
UTSW |
11 |
74,756,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R6722:Sgsm2
|
UTSW |
11 |
74,756,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Sgsm2
|
UTSW |
11 |
74,782,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Sgsm2
|
UTSW |
11 |
74,745,319 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7209:Sgsm2
|
UTSW |
11 |
74,745,151 (GRCm39) |
missense |
probably damaging |
0.98 |
R7655:Sgsm2
|
UTSW |
11 |
74,756,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R7656:Sgsm2
|
UTSW |
11 |
74,756,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R8526:Sgsm2
|
UTSW |
11 |
74,759,847 (GRCm39) |
missense |
probably benign |
0.17 |
R9112:Sgsm2
|
UTSW |
11 |
74,756,222 (GRCm39) |
nonsense |
probably null |
|
R9184:Sgsm2
|
UTSW |
11 |
74,782,834 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9226:Sgsm2
|
UTSW |
11 |
74,748,960 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9391:Sgsm2
|
UTSW |
11 |
74,744,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R9458:Sgsm2
|
UTSW |
11 |
74,759,557 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Posted On |
2015-04-16 |