Incidental Mutation 'IGL02359:Sgsm2'
| ID |
290437 |
| 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: 0.203)
|
| Stock # |
IGL02359
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
74849261-74897060 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 74892074 bp (GRCm38)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
C |
12: 72,895,055 |
|
probably null |
Het |
| Abca5 |
T |
A |
11: 110,275,330 |
N1540I |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,343,728 |
|
probably null |
Het |
| Aldh2 |
T |
C |
5: 121,575,897 |
E128G |
probably null |
Het |
| Ano3 |
A |
T |
2: 110,884,943 |
L50* |
probably null |
Het |
| Atp13a3 |
A |
G |
16: 30,351,084 |
I392T |
probably damaging |
Het |
| C1qtnf5 |
A |
G |
9: 44,108,334 |
E85G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,093,252 |
|
probably benign |
Het |
| Ccdc150 |
G |
A |
1: 54,272,521 |
R222H |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,069,868 |
I303N |
probably damaging |
Het |
| Cmip |
A |
T |
8: 117,411,255 |
|
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 34,804,222 |
Y60H |
probably damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,393,920 |
W10R |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,505,661 |
Y2076H |
probably damaging |
Het |
| Egflam |
T |
C |
15: 7,234,225 |
N748S |
probably benign |
Het |
| Fam227b |
A |
G |
2: 126,146,254 |
|
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,563,112 |
I654N |
probably damaging |
Het |
| Gm17018 |
G |
T |
19: 45,577,054 |
A156S |
probably benign |
Het |
| Gm17727 |
A |
T |
9: 35,777,884 |
M1K |
probably null |
Het |
| Hpf1 |
A |
G |
8: 60,896,802 |
I155V |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,480,443 |
N228K |
probably benign |
Het |
| Igkv3-2 |
T |
C |
6: 70,698,490 |
L8P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,101,960 |
F734L |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,243,501 |
Y276C |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,680,470 |
S178T |
possibly damaging |
Het |
| March6 |
C |
T |
15: 31,509,759 |
C28Y |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 85,355,302 |
T356A |
probably benign |
Het |
| Olfr166 |
T |
C |
16: 19,487,177 |
L113P |
probably damaging |
Het |
| Pgap2 |
G |
T |
7: 102,236,139 |
V71F |
probably damaging |
Het |
| Prob1 |
T |
G |
18: 35,652,840 |
E787A |
possibly damaging |
Het |
| Psmd2 |
C |
A |
16: 20,656,941 |
D430E |
probably benign |
Het |
| Reln |
C |
A |
5: 22,039,565 |
G805V |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,257,820 |
|
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,690,186 |
I153V |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,685,525 |
D628E |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,628,802 |
S145P |
probably benign |
Het |
| Sv2b |
T |
C |
7: 75,136,449 |
T408A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,403,925 |
C1626R |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,632,048 |
T217M |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,580,619 |
V155M |
probably damaging |
Het |
| Wsb1 |
G |
A |
11: 79,251,012 |
L60F |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 107,540,646 |
R297* |
probably null |
Het |
| Xkr6 |
T |
C |
14: 63,819,707 |
Y356H |
unknown |
Het |
|
| Other mutations in Sgsm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01469:Sgsm2
|
APN |
11 |
74,853,871 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02164:Sgsm2
|
APN |
11 |
74,865,416 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02236:Sgsm2
|
APN |
11 |
74,859,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02330:Sgsm2
|
APN |
11 |
74,858,667 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02352:Sgsm2
|
APN |
11 |
74,892,074 (GRCm38) |
splice site |
probably benign |
|
|
IGL03061:Sgsm2
|
APN |
11 |
74,851,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03180:Sgsm2
|
APN |
11 |
74,868,575 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0208:Sgsm2
|
UTSW |
11 |
74,868,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0433:Sgsm2
|
UTSW |
11 |
74,858,190 (GRCm38) |
splice site |
probably null |
|
|
R0517:Sgsm2
|
UTSW |
11 |
74,867,651 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0755:Sgsm2
|
UTSW |
11 |
74,865,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1439:Sgsm2
|
UTSW |
11 |
74,869,138 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1527:Sgsm2
|
UTSW |
11 |
74,853,848 (GRCm38) |
nonsense |
probably null |
|
|
R1713:Sgsm2
|
UTSW |
11 |
74,896,826 (GRCm38) |
missense |
probably null |
0.04 |
|
R1962:Sgsm2
|
UTSW |
11 |
74,892,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2189:Sgsm2
|
UTSW |
11 |
74,853,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4259:Sgsm2
|
UTSW |
11 |
74,892,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4261:Sgsm2
|
UTSW |
11 |
74,892,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4408:Sgsm2
|
UTSW |
11 |
74,851,766 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4590:Sgsm2
|
UTSW |
11 |
74,851,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6137:Sgsm2
|
UTSW |
11 |
74,850,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6162:Sgsm2
|
UTSW |
11 |
74,892,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6457:Sgsm2
|
UTSW |
11 |
74,865,169 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6681:Sgsm2
|
UTSW |
11 |
74,865,378 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6722:Sgsm2
|
UTSW |
11 |
74,865,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6986:Sgsm2
|
UTSW |
11 |
74,892,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7205:Sgsm2
|
UTSW |
11 |
74,854,493 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7209:Sgsm2
|
UTSW |
11 |
74,854,325 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7655:Sgsm2
|
UTSW |
11 |
74,865,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7656:Sgsm2
|
UTSW |
11 |
74,865,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8526:Sgsm2
|
UTSW |
11 |
74,869,021 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9112:Sgsm2
|
UTSW |
11 |
74,865,396 (GRCm38) |
nonsense |
probably null |
|
|
R9184:Sgsm2
|
UTSW |
11 |
74,892,008 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R9226:Sgsm2
|
UTSW |
11 |
74,858,134 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9391:Sgsm2
|
UTSW |
11 |
74,853,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9458:Sgsm2
|
UTSW |
11 |
74,868,731 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
| Posted On |
2015-04-16 |
Incidental Mutation