Incidental Mutation 'R6162:Sgsm2'
| ID |
489930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm2
|
| Ensembl Gene |
ENSMUSG00000038351 |
| Gene Name |
small G protein signaling modulator 2 |
| Synonyms |
D630003G22Rik, Rutbc1 |
| MMRRC Submission |
044309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R6162 (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 74782847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 36
(D36E)
|
| 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: D36E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: D36E
| 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: D36E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: D36E
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (40/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,259,047 (GRCm39) |
C2924W |
probably damaging |
Het |
| Adh4 |
T |
A |
3: 138,121,250 (GRCm39) |
|
probably null |
Het |
| Aox3 |
A |
T |
1: 58,198,890 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ccnj |
A |
G |
19: 40,833,606 (GRCm39) |
Y221C |
probably damaging |
Het |
| Cct2 |
T |
A |
10: 116,894,091 (GRCm39) |
D221V |
probably damaging |
Het |
| Cd5 |
G |
A |
19: 10,703,244 (GRCm39) |
T138M |
probably damaging |
Het |
| Cep78 |
A |
T |
19: 15,952,304 (GRCm39) |
M307K |
probably benign |
Het |
| Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
| Dhrs11 |
C |
T |
11: 84,719,605 (GRCm39) |
G40D |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,382 (GRCm39) |
S3823G |
probably benign |
Het |
| Dnai3 |
T |
A |
3: 145,750,617 (GRCm39) |
I821F |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,841,998 (GRCm39) |
Y944N |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,045,318 (GRCm39) |
D17G |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fam20a |
G |
T |
11: 109,573,696 (GRCm39) |
S229* |
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,202,147 (GRCm39) |
D1242G |
probably damaging |
Het |
| Ggt5 |
T |
A |
10: 75,425,626 (GRCm39) |
V28D |
possibly damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,655 (GRCm39) |
I137F |
probably damaging |
Het |
| Git2 |
T |
A |
5: 114,899,717 (GRCm39) |
H212L |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,008 (GRCm39) |
I739F |
probably benign |
Het |
| Il1rl2 |
A |
G |
1: 40,391,038 (GRCm39) |
Y327C |
probably damaging |
Het |
| Lmf1 |
A |
G |
17: 25,831,368 (GRCm39) |
I205V |
probably benign |
Het |
| Mipep |
C |
A |
14: 61,024,853 (GRCm39) |
P98Q |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,944,707 (GRCm39) |
D436G |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,881,784 (GRCm39) |
E756V |
possibly damaging |
Het |
| Myorg |
A |
G |
4: 41,497,899 (GRCm39) |
V577A |
possibly damaging |
Het |
| Notch1 |
C |
T |
2: 26,352,207 (GRCm39) |
V2035I |
probably benign |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,713 (GRCm39) |
I46F |
probably damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,227 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c118 |
G |
T |
2: 88,975,114 (GRCm39) |
F84L |
probably benign |
Het |
| Oxa1l |
A |
G |
14: 54,605,789 (GRCm39) |
T395A |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,375 (GRCm39) |
I177K |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,049,317 (GRCm39) |
T224A |
probably benign |
Het |
| Reln |
T |
A |
5: 22,116,048 (GRCm39) |
T2987S |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,351,621 (GRCm39) |
I787F |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,072,401 (GRCm39) |
|
probably null |
Het |
| Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
| Top3a |
T |
C |
11: 60,636,763 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trem2 |
A |
G |
17: 48,655,694 (GRCm39) |
I84V |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,430 (GRCm39) |
L594P |
probably damaging |
Het |
| Zdbf2 |
A |
T |
1: 63,319,977 (GRCm39) |
|
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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'- GGGCCTTGCATTCATATTTGAC -3'
(R):5'- GACCTGTTCTGTTGCTGAATTC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- ATGCCTGACCACTGAGCTGTAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation