Incidental Mutation 'R4466:Sh3pxd2a'
ID |
330376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
041723-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4466 (G1)
|
Quality Score |
197 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47353146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 105
(V105A)
|
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: V105A
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: V105A
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: V105A
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: V105A
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 |
0.1099 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (55/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
A |
T |
3: 59,745,887 (GRCm39) |
|
noncoding transcript |
Het |
Adgra1 |
T |
A |
7: 139,420,752 (GRCm39) |
|
probably benign |
Het |
Akap13 |
T |
A |
7: 75,252,521 (GRCm39) |
|
probably null |
Het |
Amn1 |
T |
C |
6: 149,068,343 (GRCm39) |
|
probably null |
Het |
Ano5 |
T |
A |
7: 51,220,023 (GRCm39) |
F374I |
probably damaging |
Het |
Apol7c |
T |
C |
15: 77,410,664 (GRCm39) |
E94G |
probably benign |
Het |
Arid4b |
A |
T |
13: 14,307,095 (GRCm39) |
S117C |
probably damaging |
Het |
Atm |
C |
A |
9: 53,359,469 (GRCm39) |
E2778* |
probably null |
Het |
Cped1 |
A |
T |
6: 22,123,651 (GRCm39) |
Q468L |
probably benign |
Het |
Crygb |
A |
G |
1: 65,119,645 (GRCm39) |
S112P |
probably damaging |
Het |
Eeig2 |
T |
A |
3: 108,887,124 (GRCm39) |
R291S |
probably benign |
Het |
Eml4 |
C |
T |
17: 83,729,103 (GRCm39) |
Q93* |
probably null |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,684,969 (GRCm39) |
S457T |
probably damaging |
Het |
Frmd4b |
A |
G |
6: 97,300,614 (GRCm39) |
|
probably null |
Het |
Gm5134 |
G |
C |
10: 75,844,409 (GRCm39) |
K588N |
probably benign |
Het |
Gpr21 |
A |
G |
2: 37,407,570 (GRCm39) |
T39A |
probably benign |
Het |
Irx1 |
C |
A |
13: 72,108,101 (GRCm39) |
G194W |
probably damaging |
Het |
Itgal |
C |
T |
7: 126,927,684 (GRCm39) |
T992I |
possibly damaging |
Het |
Itpr3 |
T |
C |
17: 27,325,316 (GRCm39) |
L1303P |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,370,328 (GRCm39) |
D1052E |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,776,018 (GRCm39) |
D180G |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,290,228 (GRCm39) |
T64A |
probably benign |
Het |
Mrpl47 |
G |
A |
3: 32,784,240 (GRCm39) |
R177* |
probably null |
Het |
Mtfr2 |
A |
G |
10: 20,224,159 (GRCm39) |
Y31C |
probably damaging |
Het |
Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
Oas2 |
A |
G |
5: 120,887,667 (GRCm39) |
S58P |
probably damaging |
Het |
Or1j11 |
A |
T |
2: 36,312,308 (GRCm39) |
R299S |
probably benign |
Het |
Or5b124 |
G |
A |
19: 13,610,801 (GRCm39) |
E109K |
probably damaging |
Het |
Or8b36 |
T |
A |
9: 37,937,479 (GRCm39) |
C126S |
probably damaging |
Het |
Polr1b |
A |
T |
2: 128,965,802 (GRCm39) |
I815L |
probably benign |
Het |
Psma8 |
T |
C |
18: 14,854,231 (GRCm39) |
I37T |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,483,447 (GRCm39) |
E4100G |
possibly damaging |
Het |
Serpina3g |
C |
T |
12: 104,204,182 (GRCm39) |
|
probably benign |
Het |
Serpina3m |
A |
T |
12: 104,357,874 (GRCm39) |
Y266F |
probably damaging |
Het |
Sez6l2 |
T |
A |
7: 126,559,023 (GRCm39) |
D423E |
probably damaging |
Het |
Sh3gl2 |
A |
G |
4: 85,299,688 (GRCm39) |
E224G |
possibly damaging |
Het |
Slc24a2 |
A |
T |
4: 87,146,099 (GRCm39) |
|
probably benign |
Het |
Smyd2 |
A |
G |
1: 189,614,349 (GRCm39) |
M393T |
probably benign |
Het |
Sox8 |
C |
A |
17: 25,787,879 (GRCm39) |
G190V |
probably benign |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
Stk35 |
C |
A |
2: 129,643,436 (GRCm39) |
T140K |
probably damaging |
Het |
Taf6 |
A |
C |
5: 138,179,463 (GRCm39) |
|
probably benign |
Het |
Ten1 |
A |
C |
11: 116,095,823 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,044 (GRCm39) |
F32981L |
probably damaging |
Het |
Zik1 |
G |
T |
7: 10,224,893 (GRCm39) |
T68K |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,815,485 (GRCm39) |
I2935N |
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 |
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'- GTCCTCTGCAGATTCGGAAGAC -3'
(R):5'- TATGGACGAATGGGTTGATACATG -3'
Sequencing Primer
(F):5'- CTCTGCAGATTCGGAAGACAATCTG -3'
(R):5'- TGCTTAAAGACCAACACTCC -3'
|
Posted On |
2015-07-21 |