Incidental Mutation 'IGL02236:Smap2'
ID |
285877 |
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 # |
IGL02236
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
120825514-120874444 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120832587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 185
(M185L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043200]
|
AlphaFold |
Q7TN29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043200
AA Change: M185L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000035800 Gene: ENSMUSG00000032870 AA Change: M185L
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Baz1b |
T |
C |
5: 135,246,138 (GRCm39) |
L529P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,197,399 (GRCm39) |
D995E |
probably benign |
Het |
Cd22 |
T |
C |
7: 30,566,893 (GRCm39) |
N607S |
possibly damaging |
Het |
Ddx10 |
T |
A |
9: 53,146,682 (GRCm39) |
D180V |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,725,672 (GRCm39) |
Y709H |
possibly damaging |
Het |
Dhrs3 |
A |
C |
4: 144,620,133 (GRCm39) |
I17L |
probably benign |
Het |
Dnah8 |
A |
T |
17: 30,868,747 (GRCm39) |
K394* |
probably null |
Het |
Flnc |
T |
A |
6: 29,454,375 (GRCm39) |
I1896N |
probably damaging |
Het |
Glipr1l2 |
A |
G |
10: 111,928,534 (GRCm39) |
Y143C |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,163,524 (GRCm39) |
|
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,241,888 (GRCm39) |
S98P |
probably benign |
Het |
Myf5 |
A |
G |
10: 107,320,051 (GRCm39) |
S200P |
possibly damaging |
Het |
Or52r1b |
T |
G |
7: 102,690,928 (GRCm39) |
S76A |
possibly damaging |
Het |
Pramel12 |
G |
A |
4: 143,143,512 (GRCm39) |
V93I |
probably benign |
Het |
Recql5 |
A |
C |
11: 115,784,856 (GRCm39) |
S824A |
probably benign |
Het |
Reg2 |
A |
G |
6: 78,383,188 (GRCm39) |
E45G |
probably damaging |
Het |
Rergl |
T |
C |
6: 139,471,918 (GRCm39) |
D77G |
probably benign |
Het |
Rnf224 |
T |
C |
2: 25,126,260 (GRCm39) |
D31G |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,592,166 (GRCm39) |
S227N |
probably damaging |
Het |
Sgsm2 |
C |
T |
11: 74,750,698 (GRCm39) |
G439D |
probably damaging |
Het |
Spty2d1 |
A |
G |
7: 46,647,360 (GRCm39) |
V523A |
probably benign |
Het |
Stk17b |
C |
A |
1: 53,803,247 (GRCm39) |
R184L |
probably damaging |
Het |
Syt13 |
A |
G |
2: 92,771,210 (GRCm39) |
D99G |
probably damaging |
Het |
Trav14-1 |
T |
A |
14: 53,791,763 (GRCm39) |
S38T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,700,812 (GRCm39) |
|
probably benign |
Het |
Usp17la |
G |
A |
7: 104,510,353 (GRCm39) |
W319* |
probably null |
Het |
Vmn2r73 |
T |
C |
7: 85,521,902 (GRCm39) |
T146A |
probably benign |
Het |
Vwa3b |
C |
T |
1: 37,193,132 (GRCm39) |
|
probably benign |
Het |
Zfp13 |
A |
T |
17: 23,799,739 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
A |
C |
7: 12,503,251 (GRCm39) |
D769E |
probably benign |
Het |
|
Other mutations in Smap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01486:Smap2
|
APN |
4 |
120,830,395 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01727:Smap2
|
APN |
4 |
120,839,405 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |