Incidental Mutation 'IGL02330:Sgsm2'
ID |
288621 |
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: 0.245)
|
Stock # |
IGL02330
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
74740087-74787886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74749493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 584
(T584A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057631]
[ENSMUST00000081799]
|
AlphaFold |
Q80U12 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057631
AA Change: T539A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000050496 Gene: ENSMUSG00000038351 AA Change: T539A
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
AA Change: T584A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000080489 Gene: ENSMUSG00000038351 AA Change: T584A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123573
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
Csf2rb2 |
C |
T |
15: 78,169,328 (GRCm39) |
G500D |
possibly damaging |
Het |
Cyp4a14 |
A |
C |
4: 115,352,224 (GRCm39) |
|
probably benign |
Het |
Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
Hmces |
A |
G |
6: 87,891,517 (GRCm39) |
H8R |
probably damaging |
Het |
Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
Ralb |
A |
T |
1: 119,399,450 (GRCm39) |
C203S |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Sf3b4 |
A |
T |
3: 96,080,376 (GRCm39) |
T42S |
possibly damaging |
Het |
Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,032,165 (GRCm39) |
Y299H |
possibly damaging |
Het |
Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
Uap1 |
A |
T |
1: 169,977,896 (GRCm39) |
I385N |
possibly damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
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 |
IGL02352:Sgsm2
|
APN |
11 |
74,782,900 (GRCm39) |
splice site |
probably benign |
|
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 |