Incidental Mutation 'R4788:Sh3pxd2a'
ID |
367286 |
Institutional Source |
Beutler Lab
|
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 # |
R4788 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47302518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 187
(L187P)
|
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: L187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: L187P
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: L187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: L187P
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 |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,960,361 (GRCm39) |
D815N |
probably damaging |
Het |
Abcc9 |
A |
T |
6: 142,566,456 (GRCm39) |
C1135* |
probably null |
Het |
Ap3b1 |
G |
A |
13: 94,702,149 (GRCm39) |
M1067I |
unknown |
Het |
Arhgap15 |
T |
C |
2: 43,638,902 (GRCm39) |
M1T |
probably null |
Het |
Boc |
T |
C |
16: 44,320,796 (GRCm39) |
D288G |
probably damaging |
Het |
Brsk1 |
G |
T |
7: 4,701,954 (GRCm39) |
|
probably null |
Het |
Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
Capn13 |
A |
T |
17: 73,644,427 (GRCm39) |
Y367* |
probably null |
Het |
Ccdc191 |
A |
G |
16: 43,777,185 (GRCm39) |
E632G |
probably damaging |
Het |
Cit |
T |
C |
5: 116,071,565 (GRCm39) |
S591P |
probably damaging |
Het |
Ckmt1 |
T |
C |
2: 121,190,427 (GRCm39) |
V118A |
possibly damaging |
Het |
Cndp2 |
T |
C |
18: 84,693,289 (GRCm39) |
N157S |
probably damaging |
Het |
Col6a3 |
A |
G |
1: 90,700,672 (GRCm39) |
|
probably null |
Het |
Coq2 |
A |
T |
5: 100,805,775 (GRCm39) |
V287E |
probably damaging |
Het |
Cpa6 |
T |
C |
1: 10,478,502 (GRCm39) |
K278R |
possibly damaging |
Het |
Cracdl |
A |
T |
1: 37,670,556 (GRCm39) |
I128K |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,921,892 (GRCm39) |
Y347* |
probably null |
Het |
Dcun1d4 |
G |
T |
5: 73,691,971 (GRCm39) |
W160L |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,738,200 (GRCm39) |
T994A |
probably benign |
Het |
Dhx57 |
T |
C |
17: 80,582,760 (GRCm39) |
T229A |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,106,513 (GRCm39) |
R1741S |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,747,213 (GRCm39) |
V1508D |
probably damaging |
Het |
Donson |
T |
C |
16: 91,484,721 (GRCm39) |
T117A |
possibly damaging |
Het |
Dtnb |
A |
G |
12: 3,822,699 (GRCm39) |
D533G |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,364,495 (GRCm39) |
N470S |
probably damaging |
Het |
Focad |
T |
A |
4: 88,275,706 (GRCm39) |
V1105E |
unknown |
Het |
Fry |
T |
C |
5: 150,323,101 (GRCm39) |
V1084A |
probably benign |
Het |
Gabra1 |
G |
T |
11: 42,037,980 (GRCm39) |
R213S |
probably damaging |
Het |
Gbp2b |
A |
C |
3: 142,317,171 (GRCm39) |
K509T |
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,491,104 (GRCm39) |
T811A |
probably benign |
Het |
Hmgcs2 |
A |
G |
3: 98,198,400 (GRCm39) |
D101G |
probably damaging |
Het |
Ifna11 |
G |
A |
4: 88,738,245 (GRCm39) |
W17* |
probably null |
Het |
Ighv1-62-3 |
T |
A |
12: 115,424,672 (GRCm39) |
M100L |
probably benign |
Het |
Lgmn |
T |
A |
12: 102,368,936 (GRCm39) |
Y181F |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,043,076 (GRCm39) |
S644P |
probably benign |
Het |
Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
Nav1 |
C |
T |
1: 135,397,461 (GRCm39) |
A903T |
probably benign |
Het |
Nop53 |
T |
C |
7: 15,676,240 (GRCm39) |
E153G |
possibly damaging |
Het |
Nop56 |
G |
T |
2: 130,120,820 (GRCm39) |
V190L |
probably benign |
Het |
Nyap2 |
A |
T |
1: 81,247,112 (GRCm39) |
M687L |
probably benign |
Het |
Or4a81 |
G |
A |
2: 89,619,480 (GRCm39) |
S72F |
probably damaging |
Het |
Or8g17 |
T |
C |
9: 38,930,217 (GRCm39) |
T207A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,095,908 (GRCm39) |
T145A |
probably benign |
Het |
Osbp2 |
T |
C |
11: 3,813,320 (GRCm39) |
K183R |
probably benign |
Het |
Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
Pax1 |
A |
G |
2: 147,208,124 (GRCm39) |
Q244R |
possibly damaging |
Het |
Pcdh9 |
C |
A |
14: 94,124,851 (GRCm39) |
V317F |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,361,417 (GRCm39) |
Q489L |
probably damaging |
Het |
Poln |
A |
T |
5: 34,286,675 (GRCm39) |
S164R |
probably benign |
Het |
Ptf1a |
T |
C |
2: 19,450,762 (GRCm39) |
S31P |
probably benign |
Het |
Rasal3 |
A |
T |
17: 32,618,312 (GRCm39) |
D164E |
probably benign |
Het |
Rnf170 |
A |
G |
8: 26,630,891 (GRCm39) |
E168G |
probably damaging |
Het |
Rubcn |
A |
G |
16: 32,656,778 (GRCm39) |
|
probably null |
Het |
Sec16b |
A |
T |
1: 157,389,094 (GRCm39) |
T830S |
possibly damaging |
Het |
Sel1l3 |
A |
G |
5: 53,289,175 (GRCm39) |
V882A |
probably benign |
Het |
Sfpq |
A |
G |
4: 126,919,791 (GRCm39) |
E512G |
probably damaging |
Het |
Skint6 |
C |
T |
4: 113,095,533 (GRCm39) |
G42D |
possibly damaging |
Het |
Slc7a2 |
A |
G |
8: 41,367,023 (GRCm39) |
I526V |
probably benign |
Het |
Spmip7 |
T |
C |
11: 11,438,652 (GRCm39) |
|
probably null |
Het |
Ssh2 |
A |
T |
11: 77,320,624 (GRCm39) |
N328Y |
probably damaging |
Het |
Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
Tom1l2 |
A |
G |
11: 60,139,844 (GRCm39) |
L275P |
probably damaging |
Het |
Trgv5 |
A |
G |
13: 19,376,724 (GRCm39) |
K57R |
probably benign |
Het |
Tyrp1 |
C |
T |
4: 80,763,180 (GRCm39) |
R356* |
probably null |
Het |
Zan |
A |
G |
5: 137,440,375 (GRCm39) |
L1953P |
unknown |
Het |
Zfhx3 |
T |
C |
8: 109,520,842 (GRCm39) |
S655P |
probably damaging |
Het |
Zmym1 |
T |
C |
4: 126,948,090 (GRCm39) |
T94A |
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 |
|
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 |
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 |
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'- GAACTTCAGACTCTTCGGCC -3'
(R):5'- GCTATATGGCCTGTCCTTGG -3'
Sequencing Primer
(F):5'- AGACTCTTCGGCCCTCTC -3'
(R):5'- CAGAGCTGGCGACCGAG -3'
|
Posted On |
2015-12-29 |