Incidental Mutation 'R6681:Sgsm2'
ID |
527510 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsm2
|
Ensembl Gene |
ENSMUSG00000038351 |
Gene Name |
small G protein signaling modulator 2 |
Synonyms |
D630003G22Rik, Rutbc1 |
MMRRC Submission |
044800-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R6681 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74740087-74787886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74756204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 382
(W382R)
|
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: W382R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000050496 Gene: ENSMUSG00000038351 AA Change: W382R
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: W382R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080489 Gene: ENSMUSG00000038351 AA Change: W382R
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184562
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (45/46) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
T |
3: 121,915,447 (GRCm39) |
T971S |
probably damaging |
Het |
Catsperb |
C |
T |
12: 101,590,994 (GRCm39) |
Q1021* |
probably null |
Het |
Ccdc62 |
A |
G |
5: 124,072,156 (GRCm39) |
T62A |
probably benign |
Het |
Cuzd1 |
A |
G |
7: 130,913,412 (GRCm39) |
S402P |
probably damaging |
Het |
Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
Dennd2c |
A |
G |
3: 103,038,977 (GRCm39) |
T42A |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,560,385 (GRCm39) |
|
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dpp4 |
A |
T |
2: 62,178,893 (GRCm39) |
F607L |
probably benign |
Het |
Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
Fam53a |
A |
G |
5: 33,765,184 (GRCm39) |
L174P |
probably damaging |
Het |
Fh1 |
T |
C |
1: 175,446,690 (GRCm39) |
D62G |
probably null |
Het |
Gpatch11 |
T |
C |
17: 79,147,528 (GRCm39) |
I103T |
probably damaging |
Het |
Hmgcll1 |
A |
T |
9: 75,988,731 (GRCm39) |
T169S |
probably benign |
Het |
Kbtbd3 |
A |
T |
9: 4,330,687 (GRCm39) |
I354F |
probably benign |
Het |
Kdm5b |
T |
C |
1: 134,541,007 (GRCm39) |
F700L |
possibly damaging |
Het |
Mamdc4 |
C |
A |
2: 25,457,756 (GRCm39) |
G439V |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Mug1 |
C |
T |
6: 121,815,683 (GRCm39) |
S29L |
possibly damaging |
Het |
Myh2 |
G |
A |
11: 67,069,174 (GRCm39) |
D328N |
probably damaging |
Het |
Or10j3b |
C |
A |
1: 173,043,973 (GRCm39) |
H252N |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
Or5j1 |
T |
C |
2: 86,878,942 (GRCm39) |
T213A |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,706,710 (GRCm39) |
I13N |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
Rest |
A |
G |
5: 77,428,844 (GRCm39) |
K421R |
probably damaging |
Het |
Rttn |
C |
A |
18: 89,032,735 (GRCm39) |
H668N |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,393,686 (GRCm39) |
I228V |
possibly damaging |
Het |
Scp2 |
G |
T |
4: 107,948,513 (GRCm39) |
Q155K |
probably damaging |
Het |
Sec61a2 |
G |
A |
2: 5,881,219 (GRCm39) |
R18* |
probably null |
Het |
Serpinb8 |
T |
A |
1: 107,525,321 (GRCm39) |
M41K |
probably damaging |
Het |
Slc26a10 |
G |
T |
10: 127,009,530 (GRCm39) |
T606N |
possibly damaging |
Het |
Slc30a6 |
T |
C |
17: 74,711,027 (GRCm39) |
I40T |
possibly damaging |
Het |
Slfn5 |
G |
A |
11: 82,847,204 (GRCm39) |
E30K |
possibly damaging |
Het |
Sorcs2 |
C |
A |
5: 36,555,154 (GRCm39) |
R79L |
probably benign |
Het |
Tmc5 |
G |
A |
7: 118,268,527 (GRCm39) |
S865N |
probably damaging |
Het |
Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
Trpv5 |
C |
G |
6: 41,630,288 (GRCm39) |
E601Q |
probably damaging |
Het |
Ttc39b |
A |
T |
4: 83,158,285 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
T |
A |
11: 96,029,689 (GRCm39) |
C201S |
probably damaging |
Het |
Vezt |
A |
G |
10: 93,832,859 (GRCm39) |
V204A |
probably benign |
Het |
Vmn1r45 |
T |
A |
6: 89,910,985 (GRCm39) |
|
probably benign |
Het |
Zfp433 |
A |
T |
10: 81,556,722 (GRCm39) |
H408L |
probably damaging |
Het |
Zfp865 |
T |
C |
7: 5,032,450 (GRCm39) |
I145T |
possibly 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 |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCTTGGGGAAAACCTTGCC -3'
(R):5'- AAATCTCACCTGTTGGGCC -3'
Sequencing Primer
(F):5'- AAAACCTTGCCCTGCGGAG -3'
(R):5'- GGTCTCAAGAAGGACCCCAG -3'
|
Posted On |
2018-07-23 |