Incidental Mutation 'IGL01486:Smap2'
| ID |
88759 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smap2
|
| Ensembl Gene |
ENSMUSG00000032870 |
| Gene Name |
small ArfGAP 2 |
| Synonyms |
Smap1l, Smap2, 1810031K02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
120825514-120874444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120830395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 247
(F247I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043200]
|
| AlphaFold |
Q7TN29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043200
AA Change: F247I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035800
Gene: ENSMUSG00000032870
AA Change: F247I
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
13 |
131 |
2.06e-44 |
SMART |
|
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199525
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with globozoospermia, asthenozoospermia and abnormal acrosome formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx3 |
G |
T |
3: 107,512,139 (GRCm39) |
C259F |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,409,123 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,421,513 (GRCm39) |
I733V |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,552,890 (GRCm39) |
|
probably null |
Het |
| Ckm |
G |
A |
7: 19,155,156 (GRCm39) |
G262S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,941 (GRCm39) |
S443R |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,405,733 (GRCm39) |
A481S |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,226,633 (GRCm39) |
V203M |
probably damaging |
Het |
| Kdelr3 |
T |
A |
15: 79,407,048 (GRCm39) |
V43D |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,453,113 (GRCm39) |
K235E |
probably benign |
Het |
| Macir |
A |
T |
1: 97,573,731 (GRCm39) |
S111R |
probably damaging |
Het |
| Mapk1 |
A |
T |
16: 16,836,144 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,243,478 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,786,331 (GRCm39) |
T625A |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,113,388 (GRCm39) |
S287G |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,055,341 (GRCm39) |
|
probably benign |
Het |
| Tff2 |
T |
G |
17: 31,361,316 (GRCm39) |
E79A |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,471,079 (GRCm39) |
C513Y |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,031,634 (GRCm39) |
S925P |
possibly damaging |
Het |
| Xrcc4 |
C |
A |
13: 90,210,151 (GRCm39) |
E98* |
probably null |
Het |
| Ypel3 |
A |
G |
7: 126,377,033 (GRCm39) |
T38A |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,304,547 (GRCm39) |
G1146R |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,713,307 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Smap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01727:Smap2
|
APN |
4 |
120,839,405 (GRCm39) |
splice site |
probably benign |
|
|
IGL02236:Smap2
|
APN |
4 |
120,832,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
twizzler
|
UTSW |
4 |
120,842,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0564:Smap2
|
UTSW |
4 |
120,834,174 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4567:Smap2
|
UTSW |
4 |
120,842,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Smap2
|
UTSW |
4 |
120,830,370 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5198:Smap2
|
UTSW |
4 |
120,873,984 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6469:Smap2
|
UTSW |
4 |
120,830,282 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6470:Smap2
|
UTSW |
4 |
120,830,282 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6472:Smap2
|
UTSW |
4 |
120,830,282 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6504:Smap2
|
UTSW |
4 |
120,830,282 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6516:Smap2
|
UTSW |
4 |
120,840,303 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7013:Smap2
|
UTSW |
4 |
120,839,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Smap2
|
UTSW |
4 |
120,829,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7634:Smap2
|
UTSW |
4 |
120,873,996 (GRCm39) |
missense |
probably benign |
|
|
R9674:Smap2
|
UTSW |
4 |
120,826,745 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-11-18 |
Incidental Mutation