Incidental Mutation 'R7015:Sh3pxd2a'
ID |
545285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
045116-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7015 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 47256562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 747
(A747T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
AlphaFold |
O89032 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081619
AA Change: A747T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: A747T
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: A719T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: A719T
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
93% (55/59) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
A |
G |
1: 159,902,738 (GRCm39) |
R3G |
possibly damaging |
Het |
Abcc2 |
A |
G |
19: 43,786,617 (GRCm39) |
I150V |
probably benign |
Het |
Adgrb1 |
T |
C |
15: 74,445,959 (GRCm39) |
L1085P |
probably damaging |
Het |
Agbl4 |
A |
G |
4: 110,335,697 (GRCm39) |
N24D |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,321,917 (GRCm39) |
T70A |
probably benign |
Het |
Aplf |
G |
A |
6: 87,618,884 (GRCm39) |
A399V |
probably damaging |
Het |
Asxl3 |
A |
G |
18: 22,656,978 (GRCm39) |
S1663G |
probably benign |
Het |
Bcat1 |
G |
C |
6: 144,985,309 (GRCm39) |
P43R |
probably damaging |
Het |
Camk1 |
T |
C |
6: 113,318,887 (GRCm39) |
R9G |
probably benign |
Het |
Casp8ap2 |
T |
C |
4: 32,644,278 (GRCm39) |
V1117A |
probably damaging |
Het |
Cd300ld4 |
A |
T |
11: 114,913,533 (GRCm39) |
V174E |
probably benign |
Het |
Cep85l |
T |
C |
10: 53,225,151 (GRCm39) |
D146G |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,751,675 (GRCm39) |
|
probably benign |
Het |
Cog3 |
C |
T |
14: 75,950,716 (GRCm39) |
V719I |
possibly damaging |
Het |
Col4a4 |
G |
A |
1: 82,484,671 (GRCm39) |
P532L |
unknown |
Het |
Col6a4 |
C |
T |
9: 105,910,954 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
C |
T |
12: 110,632,521 (GRCm39) |
Q4547* |
probably null |
Het |
Ergic1 |
G |
A |
17: 26,873,853 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
G |
A |
5: 114,394,916 (GRCm39) |
T337M |
possibly damaging |
Het |
Gemin5 |
A |
T |
11: 58,047,566 (GRCm39) |
I336N |
probably damaging |
Het |
Gm21905 |
A |
T |
5: 68,103,705 (GRCm39) |
|
probably null |
Het |
Grik2 |
C |
A |
10: 49,411,532 (GRCm39) |
R202L |
probably damaging |
Het |
Iglon5 |
T |
C |
7: 43,126,351 (GRCm39) |
D184G |
probably benign |
Het |
Il11ra1 |
A |
T |
4: 41,765,421 (GRCm39) |
Q172L |
probably benign |
Het |
Me2 |
G |
T |
18: 73,914,218 (GRCm39) |
|
probably null |
Het |
Med24 |
A |
G |
11: 98,609,678 (GRCm39) |
V73A |
possibly damaging |
Het |
Mmp24 |
A |
G |
2: 155,634,544 (GRCm39) |
Q88R |
probably damaging |
Het |
Mroh3 |
A |
T |
1: 136,111,069 (GRCm39) |
V819E |
probably damaging |
Het |
Mrps9 |
A |
G |
1: 42,937,706 (GRCm39) |
K247R |
probably benign |
Het |
Myo15b |
G |
A |
11: 115,762,670 (GRCm39) |
R1254H |
|
Het |
Ncoa5 |
A |
G |
2: 164,844,001 (GRCm39) |
L134P |
probably benign |
Het |
Or4d5 |
A |
T |
9: 40,012,751 (GRCm39) |
F12I |
probably benign |
Het |
Or51e2 |
C |
A |
7: 102,391,651 (GRCm39) |
L186F |
probably damaging |
Het |
Or52a24 |
T |
C |
7: 103,382,024 (GRCm39) |
V297A |
probably null |
Het |
Pdcd11 |
A |
G |
19: 47,086,665 (GRCm39) |
I224V |
probably benign |
Het |
Ptprh |
C |
A |
7: 4,555,626 (GRCm39) |
|
probably null |
Het |
Rab34 |
G |
T |
11: 78,080,978 (GRCm39) |
V63F |
probably damaging |
Het |
Rack1 |
T |
C |
11: 48,692,592 (GRCm39) |
I71T |
probably benign |
Het |
Rai14 |
G |
A |
15: 10,589,401 (GRCm39) |
R266* |
probably null |
Het |
Rsph9 |
A |
G |
17: 46,440,382 (GRCm39) |
V238A |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Sel1l3 |
A |
T |
5: 53,329,916 (GRCm39) |
C480S |
probably benign |
Het |
Slc1a3 |
T |
C |
15: 8,679,052 (GRCm39) |
N181S |
probably damaging |
Het |
Slit1 |
T |
A |
19: 41,618,325 (GRCm39) |
K784* |
probably null |
Het |
Sos2 |
T |
A |
12: 69,632,009 (GRCm39) |
Q1297L |
probably benign |
Het |
Srd5a2 |
T |
A |
17: 74,334,114 (GRCm39) |
T102S |
probably benign |
Het |
Ss18l2 |
A |
T |
9: 121,541,674 (GRCm39) |
I64F |
probably damaging |
Het |
Tas2r120 |
T |
C |
6: 132,634,128 (GRCm39) |
F70S |
possibly damaging |
Het |
Tjap1 |
G |
A |
17: 46,574,700 (GRCm39) |
A5V |
possibly damaging |
Het |
Tln2 |
A |
T |
9: 67,269,929 (GRCm39) |
M488K |
possibly damaging |
Het |
Tnks |
T |
G |
8: 35,305,701 (GRCm39) |
I42L |
probably benign |
Het |
Togaram2 |
A |
T |
17: 72,016,563 (GRCm39) |
Q640L |
possibly damaging |
Het |
Triobp |
C |
A |
15: 78,878,260 (GRCm39) |
Q1682K |
probably damaging |
Het |
Trip11 |
C |
T |
12: 101,859,942 (GRCm39) |
E311K |
probably damaging |
Het |
Ugt2b5 |
A |
G |
5: 87,287,655 (GRCm39) |
Y171H |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
Zfp990 |
G |
T |
4: 145,263,205 (GRCm39) |
D68Y |
probably damaging |
Het |
Zranb2 |
A |
T |
3: 157,242,370 (GRCm39) |
|
probably null |
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 |
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 |
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'- TGGATCCCTCAGAAGCCATC -3'
(R):5'- TGAGAATGAGGGCTTCAGGC -3'
Sequencing Primer
(F):5'- CATCTGTGGAGGCAGCTCTGAG -3'
(R):5'- TGTCCCTTGCCGTGAAAAAC -3'
|
Posted On |
2019-05-13 |