Incidental Mutation 'R4097:Sh3pxd2a'
ID |
317192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
040984-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4097 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47412951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 44
(Y44C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
AlphaFold |
O89032 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081619
AA Change: Y44C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: Y44C
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 damaging
Transcript: ENSMUST00000111800
AA Change: Y44C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: Y44C
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 |
|
Meta Mutation Damage Score |
0.9633 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.1%
|
Validation Efficiency |
100% (48/48) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
A |
G |
10: 83,348,228 (GRCm39) |
F292L |
probably damaging |
Het |
Ankrd36 |
A |
G |
11: 5,578,703 (GRCm39) |
D664G |
possibly damaging |
Het |
Bbs1 |
T |
A |
19: 4,947,345 (GRCm39) |
Y358F |
probably damaging |
Het |
Becn1 |
C |
T |
11: 101,185,092 (GRCm39) |
|
probably benign |
Het |
Cenpp |
A |
T |
13: 49,647,265 (GRCm39) |
N47I |
possibly damaging |
Het |
Clec4n |
A |
T |
6: 123,207,700 (GRCm39) |
H55L |
possibly damaging |
Het |
Cntnap4 |
A |
G |
8: 113,478,939 (GRCm39) |
I222V |
probably benign |
Het |
Cttnbp2 |
T |
C |
6: 18,420,871 (GRCm39) |
E370G |
probably benign |
Het |
Cyp4a10 |
T |
A |
4: 115,386,480 (GRCm39) |
V413E |
probably damaging |
Het |
Dctn2 |
C |
T |
10: 127,113,362 (GRCm39) |
L249F |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,881,285 (GRCm39) |
S146G |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,778,852 (GRCm39) |
L315* |
probably null |
Het |
Evpl |
T |
C |
11: 116,114,003 (GRCm39) |
E1229G |
possibly damaging |
Het |
Ice2 |
T |
C |
9: 69,328,953 (GRCm39) |
V775A |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 67,054,787 (GRCm39) |
E69G |
probably benign |
Het |
Lrrc66 |
T |
A |
5: 73,765,047 (GRCm39) |
R665S |
possibly damaging |
Het |
Mpdz |
T |
A |
4: 81,253,937 (GRCm39) |
H1065L |
probably damaging |
Het |
Nrf1 |
C |
T |
6: 30,151,671 (GRCm39) |
Q503* |
probably null |
Het |
Nt5dc3 |
G |
A |
10: 86,669,820 (GRCm39) |
A472T |
probably benign |
Het |
Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
Or9g3 |
T |
C |
2: 85,590,040 (GRCm39) |
I227V |
possibly damaging |
Het |
Pramel6 |
T |
G |
2: 87,339,697 (GRCm39) |
F154V |
probably benign |
Het |
Ralb |
T |
C |
1: 119,411,228 (GRCm39) |
D37G |
probably benign |
Het |
Ranbp9 |
A |
T |
13: 43,574,733 (GRCm39) |
Y412N |
probably damaging |
Het |
Scg2 |
T |
A |
1: 79,413,538 (GRCm39) |
D395V |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpine3 |
T |
A |
14: 62,908,395 (GRCm39) |
L141Q |
probably damaging |
Het |
Sgpl1 |
C |
T |
10: 60,939,017 (GRCm39) |
G394D |
probably damaging |
Het |
Slc6a20b |
A |
G |
9: 123,441,822 (GRCm39) |
|
probably benign |
Het |
Snapc5 |
T |
C |
9: 64,087,809 (GRCm39) |
I40T |
probably damaging |
Het |
Spopl |
T |
C |
2: 23,401,413 (GRCm39) |
H365R |
probably benign |
Het |
Stil |
T |
A |
4: 114,880,797 (GRCm39) |
I447N |
probably benign |
Het |
Taf3 |
C |
A |
2: 9,957,178 (GRCm39) |
V330F |
possibly damaging |
Het |
Tgoln1 |
T |
C |
6: 72,592,784 (GRCm39) |
E232G |
probably damaging |
Het |
Thrap3 |
A |
G |
4: 126,065,595 (GRCm39) |
L729P |
probably damaging |
Het |
Tmem269 |
A |
T |
4: 119,062,977 (GRCm39) |
F220Y |
probably damaging |
Het |
Tnrc18 |
ATCTTCC |
A |
5: 142,759,561 (GRCm39) |
|
probably benign |
Het |
Ubxn6 |
T |
C |
17: 56,376,712 (GRCm39) |
T227A |
probably benign |
Het |
Wdr17 |
C |
A |
8: 55,088,504 (GRCm39) |
R1182I |
probably damaging |
Het |
Wdr26 |
T |
C |
1: 181,010,352 (GRCm39) |
I550V |
probably benign |
Het |
Wdr43 |
A |
G |
17: 71,964,532 (GRCm39) |
N637S |
probably benign |
Het |
Zfp516 |
A |
G |
18: 83,005,381 (GRCm39) |
T762A |
possibly 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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCAAGACAGTACCCAGCCTG -3'
(R):5'- TGGCCCTGGTGACAAATGAG -3'
Sequencing Primer
(F):5'- AGGGACCCCTGCATCTG -3'
(R):5'- GGGGGAAATGGTCTCAGCTG -3'
|
Posted On |
2015-05-15 |