Incidental Mutation 'IGL02001:Sh3pxd2a'
| ID |
183063 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3pxd2a
|
| Ensembl Gene |
ENSMUSG00000053617 |
| Gene Name |
SH3 and PX domains 2A |
| Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02001
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47261886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 331
(K331R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
| AlphaFold |
O89032 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081619
AA Change: K331R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: K331R
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
3 |
124 |
3.6e-32 |
SMART |
|
SH3
|
169 |
224 |
3.24e-16 |
SMART |
|
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
|
SH3
|
269 |
324 |
6.49e-16 |
SMART |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
SH3
|
450 |
505 |
4.49e-10 |
SMART |
|
low complexity region
|
519 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
709 |
N/A |
INTRINSIC |
|
SH3
|
836 |
891 |
2.41e-10 |
SMART |
|
SH3
|
1066 |
1124 |
3.85e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111800
AA Change: K303R
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: K303R
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
3 |
124 |
3.6e-32 |
SMART |
|
SH3
|
169 |
224 |
3.24e-16 |
SMART |
|
SH3
|
241 |
296 |
6.49e-16 |
SMART |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
SH3
|
422 |
477 |
4.49e-10 |
SMART |
|
low complexity region
|
491 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
681 |
N/A |
INTRINSIC |
|
SH3
|
808 |
863 |
2.41e-10 |
SMART |
|
SH3
|
1038 |
1096 |
3.85e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183658
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
T |
C |
17: 48,473,842 (GRCm39) |
N25S |
possibly damaging |
Het |
| Als2 |
A |
T |
1: 59,219,347 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
T |
A |
19: 32,020,939 (GRCm39) |
K255* |
probably null |
Het |
| Bclaf1 |
A |
G |
10: 20,198,762 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
T |
C |
2: 153,733,195 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,399,315 (GRCm39) |
V669I |
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,102,432 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
T |
G |
6: 103,619,017 (GRCm39) |
L29R |
possibly damaging |
Het |
| Defb2 |
T |
C |
8: 22,333,353 (GRCm39) |
Y43H |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
| Egf |
G |
T |
3: 129,510,417 (GRCm39) |
A34E |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,203,071 (GRCm39) |
M1K |
probably null |
Het |
| Gprin1 |
T |
C |
13: 54,887,005 (GRCm39) |
E423G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,918,375 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,164 (GRCm39) |
E925G |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,733 (GRCm39) |
K107I |
possibly damaging |
Het |
| Lrig1 |
T |
C |
6: 94,584,305 (GRCm39) |
K913R |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,065,235 (GRCm39) |
T504A |
possibly damaging |
Het |
| Mrpl11 |
C |
T |
19: 5,013,680 (GRCm39) |
R154* |
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,149,394 (GRCm39) |
F334L |
probably benign |
Het |
| Or2z2 |
C |
T |
11: 58,346,335 (GRCm39) |
V147M |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,746 (GRCm39) |
T79S |
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,557,244 (GRCm39) |
T610A |
possibly damaging |
Het |
| Pcdhb15 |
T |
G |
18: 37,607,091 (GRCm39) |
L108V |
probably benign |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,105 (GRCm39) |
E156* |
probably null |
Het |
| Psma2 |
T |
G |
13: 14,798,192 (GRCm39) |
F105V |
possibly damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,055,396 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
A |
T |
3: 41,636,156 (GRCm39) |
S282T |
possibly damaging |
Het |
| Semp2l2b |
A |
T |
10: 21,943,176 (GRCm39) |
M268K |
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,185,725 (GRCm39) |
Y310C |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,178,027 (GRCm39) |
F183L |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,403,388 (GRCm39) |
H327R |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,333,523 (GRCm39) |
D89E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,587,128 (GRCm39) |
S21623L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,282 (GRCm39) |
L15489P |
probably damaging |
Het |
| Vdac3-ps1 |
A |
G |
13: 18,205,973 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,434 (GRCm39) |
Q568L |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,985,941 (GRCm39) |
D548E |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,613 (GRCm39) |
H14Q |
probably benign |
Het |
|
| Other mutations in Sh3pxd2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Sh3pxd2a
|
APN |
19 |
47,302,594 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01606:Sh3pxd2a
|
APN |
19 |
47,257,035 (GRCm39) |
missense |
probably benign |
|
|
IGL02060:Sh3pxd2a
|
APN |
19 |
47,361,817 (GRCm39) |
splice site |
probably benign |
|
|
IGL02830:Sh3pxd2a
|
APN |
19 |
47,271,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Sh3pxd2a
|
APN |
19 |
47,256,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Sh3pxd2a
|
APN |
19 |
47,302,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03290:Sh3pxd2a
|
APN |
19 |
47,412,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Sh3pxd2a
|
UTSW |
19 |
47,255,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Sh3pxd2a
|
UTSW |
19 |
47,255,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Sh3pxd2a
|
UTSW |
19 |
47,256,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Sh3pxd2a
|
UTSW |
19 |
47,255,950 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0726:Sh3pxd2a
|
UTSW |
19 |
47,257,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Sh3pxd2a
|
UTSW |
19 |
47,256,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1276:Sh3pxd2a
|
UTSW |
19 |
47,256,822 (GRCm39) |
missense |
probably benign |
|
|
R1349:Sh3pxd2a
|
UTSW |
19 |
47,256,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1372:Sh3pxd2a
|
UTSW |
19 |
47,256,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Sh3pxd2a
|
UTSW |
19 |
47,266,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Sh3pxd2a
|
UTSW |
19 |
47,266,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Sh3pxd2a
|
UTSW |
19 |
47,256,821 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1766:Sh3pxd2a
|
UTSW |
19 |
47,261,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1931:Sh3pxd2a
|
UTSW |
19 |
47,255,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1932:Sh3pxd2a
|
UTSW |
19 |
47,255,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2024:Sh3pxd2a
|
UTSW |
19 |
47,255,703 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2165:Sh3pxd2a
|
UTSW |
19 |
47,266,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2210:Sh3pxd2a
|
UTSW |
19 |
47,255,782 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2567:Sh3pxd2a
|
UTSW |
19 |
47,413,008 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4097:Sh3pxd2a
|
UTSW |
19 |
47,412,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Sh3pxd2a
|
UTSW |
19 |
47,353,146 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4788:Sh3pxd2a
|
UTSW |
19 |
47,302,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Sh3pxd2a
|
UTSW |
19 |
47,257,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Sh3pxd2a
|
UTSW |
19 |
47,266,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Sh3pxd2a
|
UTSW |
19 |
47,261,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5340:Sh3pxd2a
|
UTSW |
19 |
47,256,670 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5673:Sh3pxd2a
|
UTSW |
19 |
47,257,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Sh3pxd2a
|
UTSW |
19 |
47,256,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Sh3pxd2a
|
UTSW |
19 |
47,353,077 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6120:Sh3pxd2a
|
UTSW |
19 |
47,255,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6432:Sh3pxd2a
|
UTSW |
19 |
47,258,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6650:Sh3pxd2a
|
UTSW |
19 |
47,256,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6700:Sh3pxd2a
|
UTSW |
19 |
47,353,146 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6831:Sh3pxd2a
|
UTSW |
19 |
47,271,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7015:Sh3pxd2a
|
UTSW |
19 |
47,256,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7225:Sh3pxd2a
|
UTSW |
19 |
47,255,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Sh3pxd2a
|
UTSW |
19 |
47,256,091 (GRCm39) |
missense |
probably benign |
|
|
R7695:Sh3pxd2a
|
UTSW |
19 |
47,256,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Sh3pxd2a
|
UTSW |
19 |
47,308,753 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8143:Sh3pxd2a
|
UTSW |
19 |
47,257,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8268:Sh3pxd2a
|
UTSW |
19 |
47,256,033 (GRCm39) |
missense |
probably benign |
|
|
R8290:Sh3pxd2a
|
UTSW |
19 |
47,302,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Sh3pxd2a
|
UTSW |
19 |
47,258,277 (GRCm39) |
missense |
probably null |
0.72 |
|
R8350:Sh3pxd2a
|
UTSW |
19 |
47,257,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Sh3pxd2a
|
UTSW |
19 |
47,275,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8767:Sh3pxd2a
|
UTSW |
19 |
47,257,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8948:Sh3pxd2a
|
UTSW |
19 |
47,361,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9357:Sh3pxd2a
|
UTSW |
19 |
47,260,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Sh3pxd2a
|
UTSW |
19 |
47,255,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9515:Sh3pxd2a
|
UTSW |
19 |
47,255,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Sh3pxd2a
|
UTSW |
19 |
47,257,093 (GRCm39) |
missense |
probably benign |
|
|
V3553:Sh3pxd2a
|
UTSW |
19 |
47,255,658 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0013:Sh3pxd2a
|
UTSW |
19 |
47,256,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0026:Sh3pxd2a
|
UTSW |
19 |
47,452,589 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation