Incidental Mutation 'IGL02182:Smap1'
| ID |
283276 |
| 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 # |
IGL02182
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
23883927-23961398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23898180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 85
(E85D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027339]
[ENSMUST00000129254]
|
| AlphaFold |
Q91VZ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027339
AA Change: E170D
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027339
Gene: ENSMUSG00000026155
AA Change: E170D
| 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 damaging
Transcript: ENSMUST00000129254
AA Change: E85D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117875
Gene: ENSMUSG00000026155
AA Change: E85D
| 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: 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,104,790 (GRCm39) |
N285I |
probably benign |
Het |
| Adprh |
T |
C |
16: 38,267,838 (GRCm39) |
H149R |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,580,643 (GRCm39) |
V1853A |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,603,868 (GRCm39) |
V905A |
possibly damaging |
Het |
| Atp10b |
T |
G |
11: 43,139,774 (GRCm39) |
L1234R |
probably damaging |
Het |
| Bco1 |
G |
A |
8: 117,859,805 (GRCm39) |
A503T |
probably damaging |
Het |
| Clxn |
T |
A |
16: 14,738,659 (GRCm39) |
D163E |
probably damaging |
Het |
| Cpz |
T |
A |
5: 35,675,066 (GRCm39) |
Y61F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dtd2 |
A |
G |
12: 52,046,492 (GRCm39) |
S116P |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,768,581 (GRCm39) |
D1498G |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,944,695 (GRCm39) |
V1196A |
probably damaging |
Het |
| Gm15557 |
T |
C |
2: 155,783,737 (GRCm39) |
D405G |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,764,740 (GRCm39) |
V388E |
possibly damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,074,436 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,075 (GRCm39) |
T160A |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,775 (GRCm39) |
I274V |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,255,272 (GRCm39) |
D238E |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,946,988 (GRCm39) |
H9R |
probably benign |
Het |
| Ppp3cc |
A |
C |
14: 70,462,473 (GRCm39) |
V388G |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,321,582 (GRCm39) |
C2626* |
probably null |
Het |
| Resp18 |
T |
C |
1: 75,250,615 (GRCm39) |
T155A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scarb2 |
C |
T |
5: 92,601,913 (GRCm39) |
S327N |
probably damaging |
Het |
| Secisbp2l |
T |
A |
2: 125,589,497 (GRCm39) |
I684F |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,734,347 (GRCm39) |
D114G |
probably damaging |
Het |
| Tas2r121 |
T |
A |
6: 132,677,133 (GRCm39) |
I280F |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,016,609 (GRCm39) |
V86A |
probably benign |
Het |
| Vip |
A |
T |
10: 5,593,561 (GRCm39) |
Y91F |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp618 |
G |
A |
4: 63,013,798 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Smap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00961:Smap1
|
APN |
1 |
23,887,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation