Incidental Mutation 'R8767:Sh3pxd2a'
| ID |
667939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3pxd2a
|
| Ensembl Gene |
ENSMUSG00000053617 |
| Gene Name |
SH3 and PX domains 2A |
| Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
| MMRRC Submission |
068601-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47257345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 486
(Y486H)
|
| 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: Y486H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: Y486H
| 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: Y458H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: Y458H
| 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 |
0.4198 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd31 |
A |
G |
13: 96,969,224 (GRCm39) |
T954A |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,039,740 (GRCm39) |
M319L |
probably benign |
Het |
| Aste1 |
A |
G |
9: 105,274,098 (GRCm39) |
N113D |
possibly damaging |
Het |
| Ccnh |
C |
T |
13: 85,356,959 (GRCm39) |
Q275* |
probably null |
Het |
| Cfi |
G |
A |
3: 129,644,497 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Crybg3 |
T |
A |
16: 59,376,500 (GRCm39) |
M1585L |
probably benign |
Het |
| D630036H23Rik |
A |
G |
12: 36,431,441 (GRCm39) |
S186P |
unknown |
Het |
| Dnhd1 |
T |
C |
7: 105,301,330 (GRCm39) |
L229P |
probably damaging |
Het |
| Dtymk |
A |
T |
1: 93,728,635 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,930,779 (GRCm39) |
I1511K |
probably damaging |
Het |
| Entrep3 |
T |
G |
3: 89,091,725 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,775,080 (GRCm39) |
D342G |
probably benign |
Het |
| Hcar1 |
A |
G |
5: 124,017,113 (GRCm39) |
F193L |
probably damaging |
Het |
| Hivep2 |
T |
G |
10: 14,004,992 (GRCm39) |
L530R |
probably damaging |
Het |
| Ilrun |
T |
C |
17: 27,987,043 (GRCm39) |
T228A |
probably benign |
Het |
| Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
G |
A |
14: 57,931,781 (GRCm39) |
T879M |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,600,884 (GRCm39) |
T503I |
probably benign |
Het |
| Mmp16 |
T |
G |
4: 18,051,714 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,229,549 (GRCm39) |
Y1186H |
probably damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,387 (GRCm39) |
F300S |
probably damaging |
Het |
| Or2y1g |
A |
G |
11: 49,171,227 (GRCm39) |
N84S |
possibly damaging |
Het |
| Or7g21 |
A |
C |
9: 19,032,922 (GRCm39) |
I221L |
possibly damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,905 (GRCm39) |
S363P |
possibly damaging |
Het |
| Ptdss1 |
C |
T |
13: 67,101,608 (GRCm39) |
A99V |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,986,187 (GRCm39) |
L329Q |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,695,907 (GRCm39) |
V231A |
probably damaging |
Het |
| Shh |
T |
A |
5: 28,671,487 (GRCm39) |
N92I |
possibly damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,245,783 (GRCm39) |
I621F |
probably benign |
Het |
| Srrm1 |
T |
C |
4: 135,059,532 (GRCm39) |
T438A |
unknown |
Het |
| Synj1 |
A |
C |
16: 90,758,406 (GRCm39) |
F813V |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,783,133 (GRCm39) |
|
probably benign |
Het |
| Trir |
T |
A |
8: 85,753,690 (GRCm39) |
F55I |
probably damaging |
Het |
| Tsr1 |
A |
G |
11: 74,799,149 (GRCm39) |
T777A |
probably damaging |
Het |
| Vmn2r5 |
G |
A |
3: 64,415,103 (GRCm39) |
R86C |
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 |
|
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 |
|
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'- ATTTAACCTTCAGTGGGGAGCC -3'
(R):5'- AGAGAATGGAAGCCTCACAC -3'
Sequencing Primer
(F):5'- GCCCTGGCTCTCACAGG -3'
(R):5'- GACCAGGGTTTGAAGCTAGCATTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation