Incidental Mutation 'R4408:Sgsm2'
| ID |
327766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm2
|
| Ensembl Gene |
ENSMUSG00000038351 |
| Gene Name |
small G protein signaling modulator 2 |
| Synonyms |
D630003G22Rik, Rutbc1 |
| MMRRC Submission |
041690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R4408 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
74740087-74787886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74742592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 957
(R957L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057631]
[ENSMUST00000081799]
|
| AlphaFold |
Q80U12 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057631
AA Change: R912L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: R912L
| 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: R957L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: R957L
| 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
|
| Meta Mutation Damage Score |
0.9539 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (35/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
A |
G |
17: 25,599,601 (GRCm39) |
V1588A |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,130,536 (GRCm39) |
M287L |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Fndc5 |
A |
G |
4: 129,036,322 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
C |
A |
2: 103,898,409 (GRCm39) |
A99S |
possibly damaging |
Het |
| Gm27013 |
A |
T |
6: 130,654,728 (GRCm39) |
S245T |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 40,935,872 (GRCm39) |
T125A |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,696,188 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
A |
T |
13: 111,585,498 (GRCm39) |
N149K |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,158,368 (GRCm39) |
|
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,534,000 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,297,513 (GRCm39) |
K3149N |
probably benign |
Het |
| Lrrn3 |
A |
G |
12: 41,504,041 (GRCm39) |
V92A |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,625 (GRCm39) |
I216K |
possibly damaging |
Het |
| Or9s18 |
A |
G |
13: 65,300,514 (GRCm39) |
T159A |
probably benign |
Het |
| Osr2 |
T |
C |
15: 35,300,617 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Pop5 |
C |
T |
5: 115,378,836 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,272,997 (GRCm39) |
C211R |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc16a11 |
A |
G |
11: 70,106,560 (GRCm39) |
|
probably null |
Het |
| Spag17 |
T |
A |
3: 100,010,694 (GRCm39) |
Y2063N |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,353 (GRCm39) |
I142V |
probably benign |
Het |
| Vmn1r235 |
A |
G |
17: 21,481,854 (GRCm39) |
K60E |
probably damaging |
Het |
| Vmn2r33 |
A |
C |
7: 7,554,229 (GRCm39) |
F775V |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,709,440 (GRCm39) |
P1796S |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,378,149 (GRCm39) |
V480I |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCGAGCGTGTGAGCACATAC -3'
(R):5'- AGTTGCTGCAGAAAGGCTAC -3'
Sequencing Primer
(F):5'- CATACATGCAGCAATTGATTTGGGG -3'
(R):5'- GCTACAGCCAAGGGAGGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation