Incidental Mutation 'R9357:Sh3pxd2a'
ID |
708485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9357 (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 T
at 47260448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 435
(L435Q)
|
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: L435Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: L435Q
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: L407Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: L407Q
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,696 (GRCm39) |
V900A |
probably benign |
Het |
Adam28 |
C |
T |
14: 68,879,479 (GRCm39) |
A190T |
probably benign |
Het |
Ager |
T |
C |
17: 34,817,541 (GRCm39) |
V116A |
probably damaging |
Het |
Agt |
G |
T |
8: 125,291,065 (GRCm39) |
H81N |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,146,872 (GRCm39) |
V642A |
probably damaging |
Het |
Atg4b |
C |
T |
1: 93,713,648 (GRCm39) |
T325M |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,150,711 (GRCm39) |
S1470G |
probably benign |
Het |
Cacul1 |
A |
G |
19: 60,533,942 (GRCm39) |
I220T |
probably benign |
Het |
Ccdc7a |
T |
C |
8: 129,671,136 (GRCm39) |
|
probably null |
Het |
Cnnm1 |
A |
C |
19: 43,429,827 (GRCm39) |
D315A |
probably damaging |
Het |
Fbxo24 |
A |
G |
5: 137,611,096 (GRCm39) |
F565L |
probably damaging |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,211 (GRCm39) |
S73T |
probably damaging |
Het |
Gbp7 |
T |
C |
3: 142,248,889 (GRCm39) |
V384A |
probably benign |
Het |
Gcnt2 |
A |
T |
13: 41,041,732 (GRCm39) |
H297L |
possibly damaging |
Het |
Glo1 |
T |
C |
17: 30,831,518 (GRCm39) |
E3G |
probably benign |
Het |
Gsdmc4 |
T |
C |
15: 63,772,196 (GRCm39) |
D161G |
probably benign |
Het |
Ifi213 |
T |
A |
1: 173,396,392 (GRCm39) |
M561L |
probably benign |
Het |
Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,260,814 (GRCm39) |
L971P |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,336,917 (GRCm39) |
I1285N |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,566,708 (GRCm39) |
Y2004* |
probably null |
Het |
Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,852,450 (GRCm39) |
D846G |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,463,268 (GRCm39) |
E500G |
probably damaging |
Het |
Myo18a |
C |
T |
11: 77,733,014 (GRCm39) |
T1348M |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,093,129 (GRCm39) |
I2027N |
probably damaging |
Het |
Neb |
T |
C |
2: 52,069,580 (GRCm39) |
|
probably null |
Het |
Obscn |
G |
A |
11: 58,929,592 (GRCm39) |
R5208C |
probably damaging |
Het |
Parg |
G |
A |
14: 31,996,874 (GRCm39) |
D827N |
probably damaging |
Het |
Pcdha6 |
A |
T |
18: 37,102,226 (GRCm39) |
H473L |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,625,645 (GRCm39) |
S1318P |
probably benign |
Het |
Ppan |
T |
C |
9: 20,801,220 (GRCm39) |
S166P |
possibly damaging |
Het |
Ppargc1b |
C |
A |
18: 61,448,939 (GRCm39) |
A128S |
probably damaging |
Het |
Rdh16f2 |
T |
A |
10: 127,712,915 (GRCm39) |
D304E |
possibly damaging |
Het |
Slc35d1 |
A |
T |
4: 103,065,333 (GRCm39) |
Y183N |
|
Het |
Sspo |
T |
C |
6: 48,443,989 (GRCm39) |
S2166P |
possibly damaging |
Het |
Tent5a |
A |
T |
9: 85,208,672 (GRCm39) |
N50K |
probably benign |
Het |
Twf2 |
T |
C |
9: 106,092,100 (GRCm39) |
F319S |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
Vmn1r3 |
T |
G |
4: 3,185,149 (GRCm39) |
T53P |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,880,428 (GRCm39) |
E86G |
probably benign |
Het |
Wdtc1 |
A |
G |
4: 133,023,782 (GRCm39) |
Y530H |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,214,711 (GRCm39) |
F745L |
probably damaging |
Het |
Xdh |
A |
C |
17: 74,233,541 (GRCm39) |
|
probably null |
Het |
Zfp358 |
T |
C |
8: 3,545,568 (GRCm39) |
L50P |
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 |
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 |
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'- CTCGGAGTGCAGTGCTTTTC -3'
(R):5'- CCTGGTGACTTAGAACACAGG -3'
Sequencing Primer
(F):5'- AAACTGTCTAGCTATGCTCTAGG -3'
(R):5'- GAACACAGGGTCTTTCATGACTATGG -3'
|
Posted On |
2022-04-18 |