Incidental Mutation 'IGL02830:Sh3pxd2a'
ID |
361404 |
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 # |
IGL02830
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 47271517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 249
(R249W)
|
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: R249W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: R249W
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 |
probably benign
Transcript: ENSMUST00000111800
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
A |
17: 48,348,235 (GRCm39) |
E67D |
possibly damaging |
Het |
Acad11 |
T |
A |
9: 103,953,118 (GRCm39) |
F116I |
probably damaging |
Het |
Acox2 |
G |
A |
14: 8,255,298 (GRCm38) |
T160I |
probably damaging |
Het |
Anxa7 |
A |
T |
14: 20,506,608 (GRCm39) |
M444K |
possibly damaging |
Het |
Atg2a |
A |
G |
19: 6,297,711 (GRCm39) |
D423G |
probably benign |
Het |
Cela3a |
T |
C |
4: 137,128,946 (GRCm39) |
N282S |
probably benign |
Het |
Cyp2c50 |
G |
A |
19: 40,086,500 (GRCm39) |
V296I |
probably benign |
Het |
Fcgbpl1 |
C |
A |
7: 27,862,348 (GRCm39) |
H2471Q |
probably damaging |
Het |
Fgd3 |
A |
G |
13: 49,418,107 (GRCm39) |
|
probably benign |
Het |
Gfus |
C |
T |
15: 75,797,437 (GRCm39) |
V275I |
probably benign |
Het |
Gimap8 |
G |
A |
6: 48,633,239 (GRCm39) |
A353T |
probably benign |
Het |
Grin3a |
T |
A |
4: 49,702,787 (GRCm39) |
M900L |
possibly damaging |
Het |
H1f0 |
T |
G |
15: 78,913,511 (GRCm39) |
|
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,441,093 (GRCm39) |
V1456A |
possibly damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Kbtbd3 |
T |
A |
9: 4,330,096 (GRCm39) |
S157T |
possibly damaging |
Het |
Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,743,341 (GRCm39) |
Y223H |
probably damaging |
Het |
Klhl33 |
C |
T |
14: 51,129,214 (GRCm39) |
V672M |
probably damaging |
Het |
Lrrc49 |
G |
A |
9: 60,592,393 (GRCm39) |
L34F |
probably damaging |
Het |
Nalcn |
C |
T |
14: 123,530,881 (GRCm39) |
V1386I |
probably damaging |
Het |
Or14c39 |
T |
G |
7: 86,344,382 (GRCm39) |
C239W |
probably damaging |
Het |
Or4b13 |
A |
T |
2: 90,083,125 (GRCm39) |
I69N |
probably damaging |
Het |
Or51b6 |
C |
T |
7: 103,555,651 (GRCm39) |
P2S |
probably benign |
Het |
Or5ac19 |
A |
G |
16: 59,089,416 (GRCm39) |
S205P |
possibly damaging |
Het |
Orc5 |
A |
T |
5: 22,734,265 (GRCm39) |
L173Q |
probably damaging |
Het |
Otud4 |
T |
G |
8: 80,399,930 (GRCm39) |
D880E |
probably benign |
Het |
Pde12 |
T |
C |
14: 26,389,740 (GRCm39) |
Y323C |
probably damaging |
Het |
Pde8b |
G |
T |
13: 95,189,409 (GRCm39) |
D198E |
probably benign |
Het |
Prom2 |
T |
A |
2: 127,376,989 (GRCm39) |
I542F |
possibly damaging |
Het |
Ptprj |
G |
A |
2: 90,283,488 (GRCm39) |
T952I |
probably benign |
Het |
Ribc2 |
T |
A |
15: 85,016,458 (GRCm39) |
|
probably benign |
Het |
Sec31b |
C |
T |
19: 44,520,142 (GRCm39) |
R214K |
probably damaging |
Het |
Senp5 |
G |
A |
16: 31,802,303 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
G |
A |
19: 48,711,441 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
A |
G |
13: 65,183,180 (GRCm39) |
T241A |
probably benign |
Het |
Tac1 |
G |
A |
6: 7,555,650 (GRCm39) |
V13I |
probably benign |
Het |
Tnnc2 |
T |
A |
2: 164,619,430 (GRCm39) |
D138V |
probably null |
Het |
Tspan32 |
T |
A |
7: 142,571,329 (GRCm39) |
M159K |
possibly damaging |
Het |
Ttc28 |
A |
T |
5: 111,434,105 (GRCm39) |
T2380S |
probably benign |
Het |
Ubc |
T |
A |
5: 125,464,377 (GRCm39) |
I317F |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,204,584 (GRCm39) |
S268P |
possibly damaging |
Het |
Vmn2r91 |
C |
A |
17: 18,356,884 (GRCm39) |
H850Q |
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,900,234 (GRCm39) |
|
probably null |
Het |
Zfp329 |
A |
C |
7: 12,544,043 (GRCm39) |
C494G |
probably damaging |
Het |
Zfp54 |
T |
C |
17: 21,653,718 (GRCm39) |
S71P |
probably damaging |
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 |
|
IGL02001:Sh3pxd2a
|
APN |
19 |
47,261,886 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02060:Sh3pxd2a
|
APN |
19 |
47,361,817 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-12-18 |