Incidental Mutation 'R2567:Sh3pxd2a'
ID |
254596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
040426-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2567 (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 47413008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 25
(V25A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
AlphaFold |
O89032 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081619
AA Change: V25A
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: V25A
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 |
possibly damaging
Transcript: ENSMUST00000111800
AA Change: V25A
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: V25A
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
G |
3: 59,836,475 (GRCm39) |
|
probably benign |
Het |
Aebp1 |
A |
G |
11: 5,820,251 (GRCm39) |
D409G |
probably benign |
Het |
Akap10 |
A |
G |
11: 61,784,175 (GRCm39) |
|
probably benign |
Het |
Akap6 |
G |
T |
12: 52,985,156 (GRCm39) |
S863I |
probably damaging |
Het |
Ap1s3 |
T |
C |
1: 79,602,921 (GRCm39) |
K29E |
possibly damaging |
Het |
Atm |
T |
A |
9: 53,368,770 (GRCm39) |
I2341L |
possibly damaging |
Het |
Atp12a |
A |
T |
14: 56,624,384 (GRCm39) |
D944V |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,744,255 (GRCm39) |
S1417T |
possibly damaging |
Het |
Cacna1a |
T |
A |
8: 85,276,354 (GRCm39) |
M613K |
probably damaging |
Het |
Ccdc191 |
A |
C |
16: 43,764,330 (GRCm39) |
|
probably null |
Het |
Cd209d |
T |
A |
8: 3,926,327 (GRCm39) |
N96I |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdk4 |
T |
G |
10: 126,900,145 (GRCm39) |
V14G |
probably benign |
Het |
Chrna10 |
C |
A |
7: 101,761,276 (GRCm39) |
M438I |
probably benign |
Het |
Clec10a |
T |
C |
11: 70,060,358 (GRCm39) |
|
probably null |
Het |
Cog3 |
A |
G |
14: 75,991,730 (GRCm39) |
V40A |
probably benign |
Het |
Creb3l3 |
T |
C |
10: 80,921,883 (GRCm39) |
H315R |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,283,167 (GRCm39) |
|
probably null |
Het |
Cygb |
T |
C |
11: 116,540,692 (GRCm39) |
D98G |
probably damaging |
Het |
Dmbx1 |
T |
C |
4: 115,777,489 (GRCm39) |
K120E |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,551,920 (GRCm39) |
I2800F |
possibly damaging |
Het |
Dntt |
G |
T |
19: 41,029,775 (GRCm39) |
R245L |
possibly damaging |
Het |
Dock1 |
T |
G |
7: 134,747,213 (GRCm39) |
V1508G |
probably damaging |
Het |
Enpp4 |
A |
C |
17: 44,412,736 (GRCm39) |
I266R |
probably damaging |
Het |
Fhl4 |
T |
C |
10: 84,934,644 (GRCm39) |
I46V |
possibly damaging |
Het |
Fn1 |
G |
A |
1: 71,636,895 (GRCm39) |
Q1995* |
probably null |
Het |
Foxl3 |
A |
G |
5: 138,805,940 (GRCm39) |
S36G |
probably null |
Het |
Foxo1 |
T |
A |
3: 52,176,755 (GRCm39) |
L178H |
probably damaging |
Het |
Galnt18 |
C |
T |
7: 111,153,823 (GRCm39) |
R267H |
probably damaging |
Het |
Gm1110 |
T |
C |
9: 26,831,992 (GRCm39) |
D53G |
probably benign |
Het |
Gm7104 |
A |
T |
12: 88,252,242 (GRCm39) |
|
noncoding transcript |
Het |
H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
Haus6 |
C |
A |
4: 86,504,122 (GRCm39) |
E501* |
probably null |
Het |
Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
Kdelr3 |
A |
G |
15: 79,407,032 (GRCm39) |
I38V |
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,319,054 (GRCm39) |
|
probably null |
Het |
Larp7-ps |
T |
C |
4: 92,079,560 (GRCm39) |
E87G |
probably benign |
Het |
Mgat4c |
T |
A |
10: 102,214,123 (GRCm39) |
F35L |
probably benign |
Het |
Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
Mrpl2 |
A |
G |
17: 46,958,427 (GRCm39) |
T70A |
probably benign |
Het |
Naa11 |
C |
T |
5: 97,539,618 (GRCm39) |
G180D |
probably benign |
Het |
Npy6r |
T |
C |
18: 44,408,888 (GRCm39) |
V103A |
possibly damaging |
Het |
Nup188 |
A |
T |
2: 30,231,794 (GRCm39) |
R1463W |
possibly damaging |
Het |
Nusap1 |
T |
A |
2: 119,474,311 (GRCm39) |
S336R |
possibly damaging |
Het |
Or8b12c |
T |
A |
9: 37,715,509 (GRCm39) |
F101I |
probably damaging |
Het |
Pabpc4 |
T |
A |
4: 123,191,744 (GRCm39) |
L589Q |
probably damaging |
Het |
Pcdh12 |
T |
A |
18: 38,415,149 (GRCm39) |
N659Y |
probably damaging |
Het |
Perm1 |
T |
C |
4: 156,301,575 (GRCm39) |
S40P |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,637,322 (GRCm39) |
T114A |
probably damaging |
Het |
Pirt |
C |
T |
11: 66,816,985 (GRCm39) |
L99F |
probably damaging |
Het |
Plxdc2 |
A |
G |
2: 16,716,995 (GRCm39) |
R360G |
probably benign |
Het |
Rhpn2 |
G |
A |
7: 35,080,957 (GRCm39) |
|
probably null |
Het |
Rpusd2 |
T |
A |
2: 118,867,556 (GRCm39) |
I268N |
probably damaging |
Het |
Sds |
G |
T |
5: 120,619,646 (GRCm39) |
W185L |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,802,876 (GRCm39) |
K137R |
probably benign |
Het |
Slc1a2 |
C |
T |
2: 102,597,355 (GRCm39) |
T454I |
probably damaging |
Het |
Slc25a40 |
T |
C |
5: 8,480,459 (GRCm39) |
C70R |
probably damaging |
Het |
Smoc1 |
G |
A |
12: 81,214,364 (GRCm39) |
E260K |
probably damaging |
Het |
Sparcl1 |
A |
T |
5: 104,232,954 (GRCm39) |
F616I |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,939,334 (GRCm39) |
D590V |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,777,008 (GRCm39) |
V430M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,574,672 (GRCm39) |
D25407G |
probably damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,883,803 (GRCm39) |
I101V |
probably benign |
Het |
Xrcc4 |
A |
T |
13: 90,210,261 (GRCm39) |
M61K |
probably damaging |
Het |
Zfp648 |
A |
G |
1: 154,080,695 (GRCm39) |
T285A |
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 |
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 |
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'- CAGACTGGATTCTGCCTCTTG -3'
(R):5'- CAGTGACTGCTTCTTCAGGTG -3'
Sequencing Primer
(F):5'- CTCTTGGCTCTGTCCAGGG -3'
(R):5'- ACTGCTTCTTCAGGTGTGTGTAGAG -3'
|
Posted On |
2014-12-04 |