Incidental Mutation 'R6472:Smap2'
| ID |
516380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smap2
|
| Ensembl Gene |
ENSMUSG00000032870 |
| Gene Name |
small ArfGAP 2 |
| Synonyms |
Smap1l, Smap2, 1810031K02Rik |
| MMRRC Submission |
044605-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6472 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120825514-120874444 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
GACTCTAC to GAC
at 120830282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043200]
|
| AlphaFold |
Q7TN29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043200
|
| SMART Domains |
Protein: ENSMUSP00000035800
Gene: ENSMUSG00000032870
| 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 |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (30/30) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,852,891 (GRCm39) |
S82T |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,085,991 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,596,783 (GRCm39) |
Y1238H |
probably benign |
Het |
| Ccn3 |
A |
T |
15: 54,612,668 (GRCm39) |
T226S |
possibly damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,823,491 (GRCm39) |
T334A |
probably damaging |
Het |
| Csrp3 |
G |
A |
7: 48,485,356 (GRCm39) |
T47I |
possibly damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
| Fads6 |
T |
C |
11: 115,176,962 (GRCm39) |
T165A |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,975 (GRCm39) |
S566P |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,180,463 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
A |
G |
13: 12,449,111 (GRCm39) |
D1897G |
probably benign |
Het |
| Il2ra |
G |
A |
2: 11,686,780 (GRCm39) |
E204K |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,541,868 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,257,273 (GRCm39) |
D230N |
probably benign |
Het |
| Or2a20 |
A |
G |
6: 43,194,293 (GRCm39) |
I149V |
probably benign |
Het |
| Or2aa1 |
G |
A |
11: 59,480,582 (GRCm39) |
T111I |
probably benign |
Het |
| Or7g22 |
T |
A |
9: 19,048,711 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,534 (GRCm39) |
L184* |
probably null |
Het |
| Pappa2 |
T |
C |
1: 158,662,369 (GRCm39) |
D1202G |
probably damaging |
Het |
| Pcp4l1 |
A |
T |
1: 171,002,004 (GRCm39) |
I52N |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,846,067 (GRCm39) |
W665* |
probably null |
Het |
| Snrpb2 |
A |
G |
2: 142,910,221 (GRCm39) |
K93R |
possibly damaging |
Het |
| Syt10 |
T |
G |
15: 89,698,761 (GRCm39) |
E194D |
probably benign |
Het |
| Tmem163 |
A |
C |
1: 127,423,471 (GRCm39) |
F264V |
probably benign |
Het |
| Trav3-1 |
G |
T |
14: 52,818,507 (GRCm39) |
E60D |
possibly damaging |
Het |
| Vmn1r237 |
G |
A |
17: 21,534,616 (GRCm39) |
S113N |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,246,610 (GRCm39) |
S651P |
possibly damaging |
Het |
| Wnt3 |
G |
A |
11: 103,699,100 (GRCm39) |
V69I |
possibly damaging |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGTGCTAACAGCCTTC -3'
(R):5'- TGTAGGTTCCATGCCAACTGC -3'
Sequencing Primer
(F):5'- GCACAAGCTTACTTATGTGAGAG -3'
(R):5'- GCCAACTGCAGGGAGTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation