Incidental Mutation 'IGL00961:Smap1'
| ID |
26725 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smap1
|
| Ensembl Gene |
ENSMUSG00000026155 |
| Gene Name |
small ArfGAP 1 |
| Synonyms |
1700056O10Rik, 4921514B13Rik, 4921525H11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.799)
|
| Stock # |
IGL00961
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
23883927-23961398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23887355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 308
(N308S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027339]
[ENSMUST00000063663]
[ENSMUST00000129254]
|
| AlphaFold |
Q91VZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027339
AA Change: N393S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027339
Gene: ENSMUSG00000026155
AA Change: N393S
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
19 |
136 |
1.12e-45 |
SMART |
|
low complexity region
|
137 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063663
|
| SMART Domains |
Protein: ENSMUSP00000066582
Gene: ENSMUSG00000026156
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
102 |
305 |
1.1e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129254
AA Change: N308S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117875
Gene: ENSMUSG00000026155
AA Change: N308S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dcqa2
|
1 |
47 |
1e-11 |
SMART |
|
Blast:ArfGap
|
1 |
51 |
2e-18 |
BLAST |
|
PDB:2CRR|A
|
1 |
51 |
1e-19 |
PDB |
|
low complexity region
|
52 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149737
|
| Coding Region Coverage |
|
| 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 similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perturbed receptor trafficking and myelodysplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921522P10Rik |
C |
A |
8: 8,713,425 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,486,985 (GRCm39) |
I1350F |
probably damaging |
Het |
| Arfip1 |
A |
G |
3: 84,405,095 (GRCm39) |
V236A |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,796,987 (GRCm39) |
I124T |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,367,724 (GRCm39) |
I82F |
possibly damaging |
Het |
| Card11 |
A |
T |
5: 140,885,464 (GRCm39) |
M365K |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,093,997 (GRCm39) |
S1560P |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,229,451 (GRCm39) |
N594K |
possibly damaging |
Het |
| Dmbx1 |
A |
T |
4: 115,777,203 (GRCm39) |
V215E |
probably benign |
Het |
| Farp2 |
A |
T |
1: 93,549,035 (GRCm39) |
E1047V |
possibly damaging |
Het |
| Gm21759 |
A |
T |
5: 8,229,731 (GRCm39) |
|
probably benign |
Het |
| Gpr182 |
C |
T |
10: 127,586,559 (GRCm39) |
V131I |
probably benign |
Het |
| Irx1 |
T |
C |
13: 72,108,076 (GRCm39) |
D202G |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,484,609 (GRCm39) |
D338G |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 90,171,320 (GRCm39) |
I241L |
possibly damaging |
Het |
| Parp6 |
A |
G |
9: 59,540,242 (GRCm39) |
Y265C |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,427,656 (GRCm39) |
Q999K |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,599,699 (GRCm39) |
I301T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,331,669 (GRCm39) |
I2294F |
possibly damaging |
Het |
| Ska3 |
T |
C |
14: 58,059,581 (GRCm39) |
I81M |
possibly damaging |
Het |
| Stag3 |
A |
G |
5: 138,296,611 (GRCm39) |
K490E |
probably benign |
Het |
| Stk11ip |
C |
T |
1: 75,506,910 (GRCm39) |
R664C |
probably damaging |
Het |
| Tmem176b |
T |
A |
6: 48,811,004 (GRCm39) |
I259F |
possibly damaging |
Het |
| Usp37 |
T |
C |
1: 74,529,314 (GRCm39) |
T122A |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,234 (GRCm39) |
E453G |
possibly damaging |
Het |
|
| Other mutations in Smap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02182:Smap1
|
APN |
1 |
23,898,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02869:Smap1
|
APN |
1 |
23,930,995 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0308:Smap1
|
UTSW |
1 |
23,888,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Smap1
|
UTSW |
1 |
23,892,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Smap1
|
UTSW |
1 |
23,887,535 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2235:Smap1
|
UTSW |
1 |
23,898,139 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3153:Smap1
|
UTSW |
1 |
23,892,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Smap1
|
UTSW |
1 |
23,887,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4780:Smap1
|
UTSW |
1 |
23,892,517 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4787:Smap1
|
UTSW |
1 |
23,888,347 (GRCm39) |
intron |
probably benign |
|
|
R5426:Smap1
|
UTSW |
1 |
23,888,471 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7623:Smap1
|
UTSW |
1 |
23,887,376 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7662:Smap1
|
UTSW |
1 |
23,916,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Smap1
|
UTSW |
1 |
23,888,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8205:Smap1
|
UTSW |
1 |
23,888,507 (GRCm39) |
missense |
probably benign |
|
|
R8267:Smap1
|
UTSW |
1 |
23,905,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Smap1
|
UTSW |
1 |
23,961,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9073:Smap1
|
UTSW |
1 |
23,961,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-04-17 |
Incidental Mutation