Incidental Mutation 'R4259:Sgsm2'
| ID |
322572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm2
|
| Ensembl Gene |
ENSMUSG00000038351 |
| Gene Name |
small G protein signaling modulator 2 |
| Synonyms |
D630003G22Rik, Rutbc1 |
| MMRRC Submission |
041072-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R4259 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
74740087-74787886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74782854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 34
(H34L)
|
| 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: H34L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: H34L
| 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: H34L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: H34L
| 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 |
|
| Meta Mutation Damage Score |
0.6215 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Cd248 |
A |
G |
19: 5,118,866 (GRCm39) |
D238G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,462,807 (GRCm39) |
G230S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,004,948 (GRCm39) |
S276P |
probably damaging |
Het |
| Hap1 |
C |
A |
11: 100,242,668 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
A |
T |
13: 118,111,884 (GRCm39) |
K616M |
unknown |
Het |
| Igkv4-90 |
T |
C |
6: 68,784,461 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,325,298 (GRCm39) |
V1297E |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,280,506 (GRCm39) |
N1319D |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,692 (GRCm39) |
E418G |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,059,413 (GRCm39) |
S599P |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,980,512 (GRCm39) |
Y223N |
probably damaging |
Het |
| Or5p57 |
T |
A |
7: 107,665,100 (GRCm39) |
K272* |
probably null |
Het |
| Or8g50 |
A |
T |
9: 39,648,999 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,931,970 (GRCm39) |
D38G |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
| Prl3b1 |
T |
C |
13: 27,427,889 (GRCm39) |
|
probably null |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,820,496 (GRCm39) |
K250N |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 55,925,867 (GRCm39) |
S1093P |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCTTGCATTCATATTTGAC -3'
(R):5'- GACCTGTTCTGTTGCTGAATTC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- ATGCCTGACCACTGAGCTGTAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation