Incidental Mutation 'R5340:Sh3pxd2a'
ID |
422301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
042919-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5340 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47256670 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 683
(N683D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
AlphaFold |
O89032 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081619
AA Change: N711D
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: N711D
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
AA Change: N683D
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: N683D
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: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp7 |
T |
C |
4: 41,034,347 (GRCm39) |
R271G |
probably benign |
Het |
Atp4a |
A |
G |
7: 30,420,231 (GRCm39) |
I793V |
probably benign |
Het |
Baz2a |
C |
T |
10: 127,950,911 (GRCm39) |
R535C |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,102,160 (GRCm39) |
T35A |
possibly damaging |
Het |
Bnip1 |
T |
C |
17: 27,005,764 (GRCm39) |
|
probably null |
Het |
Ccdc136 |
A |
G |
6: 29,411,859 (GRCm39) |
S369G |
possibly damaging |
Het |
Csrnp3 |
A |
G |
2: 65,852,781 (GRCm39) |
D391G |
probably benign |
Het |
Ctbp2 |
G |
T |
7: 132,615,692 (GRCm39) |
H414Q |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,189,603 (GRCm39) |
I15T |
probably benign |
Het |
Dync2li1 |
A |
G |
17: 84,957,130 (GRCm39) |
|
probably null |
Het |
Eri3 |
A |
T |
4: 117,530,991 (GRCm39) |
I329F |
probably damaging |
Het |
Flii |
T |
A |
11: 60,608,094 (GRCm39) |
I786F |
probably damaging |
Het |
Fmo1 |
A |
T |
1: 162,657,551 (GRCm39) |
I530N |
probably benign |
Het |
Gm28042 |
T |
C |
2: 119,871,929 (GRCm39) |
S960P |
probably benign |
Het |
Gzmm |
C |
A |
10: 79,530,907 (GRCm39) |
F236L |
probably benign |
Het |
H2bl1 |
C |
T |
13: 99,120,951 (GRCm39) |
R25H |
possibly damaging |
Het |
Igkv4-55 |
A |
G |
6: 69,584,489 (GRCm39) |
V41A |
probably damaging |
Het |
Ipo9 |
A |
G |
1: 135,313,170 (GRCm39) |
Y1020H |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,276,858 (GRCm39) |
Y549C |
probably damaging |
Het |
Mblac1 |
A |
T |
5: 138,192,840 (GRCm39) |
S61C |
probably damaging |
Het |
Mical1 |
T |
A |
10: 41,359,427 (GRCm39) |
|
probably null |
Het |
Mroh9 |
C |
T |
1: 162,908,156 (GRCm39) |
|
probably benign |
Het |
Mta2 |
T |
C |
19: 8,919,720 (GRCm39) |
M1T |
probably null |
Het |
Neb |
A |
G |
2: 52,113,060 (GRCm39) |
Y4245H |
probably damaging |
Het |
Or11j4 |
T |
C |
14: 50,630,677 (GRCm39) |
F155L |
probably damaging |
Het |
Or4c52 |
T |
C |
2: 89,845,706 (GRCm39) |
V144A |
probably benign |
Het |
Otulinl |
T |
C |
15: 27,658,175 (GRCm39) |
M282V |
possibly damaging |
Het |
Pak2 |
G |
T |
16: 31,853,764 (GRCm39) |
|
probably null |
Het |
Phc3 |
A |
T |
3: 30,961,616 (GRCm39) |
F939I |
probably damaging |
Het |
Prss3l |
T |
C |
6: 41,422,307 (GRCm39) |
N33D |
probably benign |
Het |
Rogdi |
C |
A |
16: 4,831,225 (GRCm39) |
R14L |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,664,470 (GRCm39) |
Y1627C |
probably damaging |
Het |
Scrn3 |
A |
T |
2: 73,166,154 (GRCm39) |
K396* |
probably null |
Het |
Smtnl1 |
T |
A |
2: 84,645,785 (GRCm39) |
H362L |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,210,479 (GRCm39) |
S927G |
probably benign |
Het |
Tcaf1 |
A |
G |
6: 42,655,923 (GRCm39) |
V351A |
probably damaging |
Het |
Tmem232 |
C |
T |
17: 65,709,993 (GRCm39) |
V432M |
possibly damaging |
Het |
Ttll11 |
G |
T |
2: 35,792,801 (GRCm39) |
H347Q |
probably damaging |
Het |
Vmn2r56 |
A |
C |
7: 12,449,799 (GRCm39) |
D146E |
probably damaging |
Het |
Wwp1 |
A |
G |
4: 19,638,773 (GRCm39) |
|
probably null |
Het |
Zcchc7 |
T |
A |
4: 44,762,245 (GRCm39) |
N124K |
probably benign |
Het |
Zfp667 |
A |
G |
7: 6,308,252 (GRCm39) |
T307A |
possibly damaging |
Het |
Zfp709 |
T |
A |
8: 72,643,596 (GRCm39) |
C342S |
probably damaging |
Het |
Zfp940 |
A |
G |
7: 29,544,266 (GRCm39) |
V547A |
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 |
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 |
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'- TCACTCCTAGAGCCCTTGAG -3'
(R):5'- TGAGAATGAGGGCTTCAGGC -3'
Sequencing Primer
(F):5'- AGGAACTAATATCCATCTTCTCCTGG -3'
(R):5'- TGTCCCTTGCCGTGAAAAAC -3'
|
Posted On |
2016-08-04 |