Incidental Mutation 'R6650:Sh3pxd2a'
| ID |
527763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3pxd2a
|
| Ensembl Gene |
ENSMUSG00000053617 |
| Gene Name |
SH3 and PX domains 2A |
| Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
| MMRRC Submission |
044771-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6650 (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 47256663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 685
(G685D)
|
| 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: G713D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: G713D
| 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: G685D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: G685D
| 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 |
0.0696 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
| Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
| Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
| Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
| Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
| Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
| Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
| Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
| Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
| Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
| Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
| Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
| Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
| Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
Het |
| Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
probably 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 |
|
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 |
2018-07-23 |
Incidental Mutation