Incidental Mutation 'R1527:Sgsm2'
| ID |
166300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgsm2
|
| Ensembl Gene |
ENSMUSG00000038351 |
| Gene Name |
small G protein signaling modulator 2 |
| Synonyms |
D630003G22Rik, Rutbc1 |
| MMRRC Submission |
039567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R1527 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74740087-74787886 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 74744674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 848
(C848*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057631]
[ENSMUST00000081799]
|
| AlphaFold |
Q80U12 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057631
AA Change: C803*
|
| SMART Domains |
Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: C803*
| 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 null
Transcript: ENSMUST00000081799
AA Change: C848*
|
| SMART Domains |
Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: C848*
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.7%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
C |
A |
19: 21,575,633 (GRCm39) |
C130F |
probably damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,740,589 (GRCm39) |
D209G |
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,738,970 (GRCm39) |
V744A |
probably benign |
Het |
| Atr |
G |
T |
9: 95,752,096 (GRCm39) |
R571I |
possibly damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,118 (GRCm39) |
Y301H |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,829,753 (GRCm39) |
I954T |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,101,795 (GRCm39) |
F42S |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,425,408 (GRCm39) |
V789A |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,140,362 (GRCm39) |
L622* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,811,483 (GRCm39) |
T1203A |
probably benign |
Het |
| Cxcl17 |
A |
G |
7: 25,101,636 (GRCm39) |
V67A |
possibly damaging |
Het |
| Ddx4 |
T |
C |
13: 112,758,773 (GRCm39) |
T263A |
possibly damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,474,393 (GRCm39) |
D288G |
probably benign |
Het |
| Fbxl4 |
A |
G |
4: 22,386,154 (GRCm39) |
K254E |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,425,123 (GRCm39) |
S245P |
probably damaging |
Het |
| Gm11111 |
T |
C |
5: 98,701,387 (GRCm39) |
|
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,311,397 (GRCm39) |
H544Q |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,649,554 (GRCm39) |
V644A |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,114,264 (GRCm39) |
L2P |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mga |
A |
G |
2: 119,747,078 (GRCm39) |
T410A |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,001,740 (GRCm39) |
D584G |
probably damaging |
Het |
| Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,463 (GRCm39) |
D1553G |
probably benign |
Het |
| Myof |
T |
C |
19: 37,913,067 (GRCm39) |
Y1462C |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,718 (GRCm39) |
C144R |
probably damaging |
Het |
| Obox1 |
T |
C |
7: 15,289,250 (GRCm39) |
V55A |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,720 (GRCm39) |
H65L |
possibly damaging |
Het |
| Or4a69 |
C |
T |
2: 89,312,876 (GRCm39) |
G201D |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,911,061 (GRCm39) |
S261T |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,662 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
C |
T |
5: 32,985,293 (GRCm39) |
V1401I |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,905,130 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,698,818 (GRCm39) |
V1105D |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Slc39a10 |
A |
T |
1: 46,858,422 (GRCm39) |
V625E |
probably benign |
Het |
| Spry4 |
C |
T |
18: 38,723,630 (GRCm39) |
M44I |
probably benign |
Het |
| Stat5b |
A |
T |
11: 100,699,220 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
C |
6: 42,412,070 (GRCm39) |
I201T |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,202,050 (GRCm39) |
|
probably null |
Het |
| Tex44 |
A |
G |
1: 86,355,368 (GRCm39) |
T426A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,950 (GRCm39) |
D807G |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,100,949 (GRCm39) |
N80S |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,672,082 (GRCm39) |
H579Q |
probably benign |
Het |
| Ufd1 |
T |
C |
16: 18,633,661 (GRCm39) |
S29P |
probably damaging |
Het |
| Ugt2a3 |
G |
T |
5: 87,473,457 (GRCm39) |
Q487K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,552,964 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCACCACCATCTGATGTGAAG -3'
(R):5'- TGACACACTCAATCTGGGGACTGAC -3'
Sequencing Primer
(F):5'- CCATCTGATGTGAAGGGCAG -3'
(R):5'- TGTGTCTGTCCTGAAAGAGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation