Incidental Mutation 'IGL03061:Sgsm2'
ID |
409467 |
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 # |
IGL03061
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
74740087-74787886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 74741962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1009
(N1009K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057631]
[ENSMUST00000081799]
|
AlphaFold |
Q80U12 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057631
AA Change: N964K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050496 Gene: ENSMUSG00000038351 AA Change: N964K
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 damaging
Transcript: ENSMUST00000081799
AA Change: N1009K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080489 Gene: ENSMUSG00000038351 AA Change: N1009K
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
T |
A |
8: 46,961,374 (GRCm39) |
N106K |
probably damaging |
Het |
Ak8 |
T |
C |
2: 28,632,767 (GRCm39) |
|
probably benign |
Het |
BC016579 |
C |
T |
16: 45,449,849 (GRCm39) |
G190S |
probably damaging |
Het |
C4bp |
A |
G |
1: 130,564,454 (GRCm39) |
V410A |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,780,388 (GRCm39) |
T658A |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,287,659 (GRCm39) |
|
probably null |
Het |
Car10 |
G |
T |
11: 93,381,351 (GRCm39) |
V105F |
probably damaging |
Het |
Car15 |
C |
T |
16: 17,653,249 (GRCm39) |
C306Y |
possibly damaging |
Het |
Casr |
C |
T |
16: 36,316,250 (GRCm39) |
A530T |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,708,868 (GRCm39) |
|
probably null |
Het |
Creld1 |
A |
G |
6: 113,465,058 (GRCm39) |
E95G |
probably damaging |
Het |
Dcstamp |
T |
A |
15: 39,623,793 (GRCm39) |
D366E |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,866,856 (GRCm39) |
Y4095C |
probably damaging |
Het |
Eps8l2 |
A |
G |
7: 140,937,148 (GRCm39) |
|
probably benign |
Het |
Gsn |
T |
C |
2: 35,172,471 (GRCm39) |
|
probably benign |
Het |
Ifi27l2a |
T |
C |
12: 103,401,803 (GRCm39) |
V30A |
possibly damaging |
Het |
Ifit1bl2 |
C |
T |
19: 34,597,124 (GRCm39) |
R164Q |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,088,779 (GRCm39) |
S1102P |
probably damaging |
Het |
Kif24 |
G |
T |
4: 41,394,323 (GRCm39) |
P984Q |
possibly damaging |
Het |
Krtap29-1 |
T |
A |
11: 99,869,455 (GRCm39) |
Q142L |
possibly damaging |
Het |
Lpar6 |
C |
T |
14: 73,476,510 (GRCm39) |
T157I |
probably benign |
Het |
Lrrc32 |
A |
T |
7: 98,148,629 (GRCm39) |
T470S |
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mroh9 |
A |
T |
1: 162,854,071 (GRCm39) |
H776Q |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,228,661 (GRCm39) |
|
probably benign |
Het |
Myh7b |
A |
G |
2: 155,462,031 (GRCm39) |
N309S |
possibly damaging |
Het |
Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,713,615 (GRCm39) |
|
probably benign |
Het |
Npas4 |
C |
T |
19: 5,036,365 (GRCm39) |
V600M |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 89,478,698 (GRCm39) |
Y557* |
probably null |
Het |
Or2aj4 |
T |
C |
16: 19,385,463 (GRCm39) |
T57A |
possibly damaging |
Het |
Or52k2 |
A |
G |
7: 102,253,946 (GRCm39) |
I128M |
probably damaging |
Het |
Or8g53 |
T |
A |
9: 39,683,458 (GRCm39) |
T213S |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,152,843 (GRCm39) |
I383V |
probably damaging |
Het |
Pdzrn3 |
C |
A |
6: 101,128,816 (GRCm39) |
D617Y |
probably damaging |
Het |
Prodh2 |
A |
T |
7: 30,212,258 (GRCm39) |
K408* |
probably null |
Het |
Ptprs |
T |
C |
17: 56,725,830 (GRCm39) |
I1052V |
probably damaging |
Het |
Rpl14 |
T |
C |
9: 120,401,193 (GRCm39) |
V12A |
probably damaging |
Het |
Sf3a1 |
C |
T |
11: 4,125,493 (GRCm39) |
R428C |
probably damaging |
Het |
Slc28a2 |
A |
T |
2: 122,284,980 (GRCm39) |
I323F |
probably damaging |
Het |
Snx19 |
T |
A |
9: 30,344,928 (GRCm39) |
F676I |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tg |
A |
C |
15: 66,543,254 (GRCm39) |
D56A |
probably damaging |
Het |
Tln1 |
G |
T |
4: 43,545,694 (GRCm39) |
A928E |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,683,247 (GRCm39) |
S677P |
possibly damaging |
Het |
Ttc41 |
C |
A |
10: 86,572,721 (GRCm39) |
H698N |
possibly damaging |
Het |
Vcan |
T |
C |
13: 89,851,394 (GRCm39) |
T1189A |
probably benign |
Het |
Vmn1r215 |
G |
T |
13: 23,260,088 (GRCm39) |
V43F |
probably damaging |
Het |
Vmn2r28 |
A |
T |
7: 5,487,015 (GRCm39) |
N549K |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,898,566 (GRCm39) |
V455A |
probably benign |
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 |
IGL02352:Sgsm2
|
APN |
11 |
74,782,900 (GRCm39) |
splice site |
probably benign |
|
IGL02359:Sgsm2
|
APN |
11 |
74,782,900 (GRCm39) |
splice site |
probably benign |
|
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 |
2016-08-02 |