Incidental Mutation 'R8290:Sh3pxd2a'
ID |
638682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
067712-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8290 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47302575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 168
(L168Q)
|
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: L168Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: L168Q
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: L168Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: L168Q
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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,238,911 (GRCm39) |
Y1100N |
probably damaging |
Het |
Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,630,002 (GRCm39) |
T3576A |
probably benign |
Het |
Adnp2 |
A |
T |
18: 80,185,948 (GRCm39) |
N8K |
probably damaging |
Het |
Aftph |
A |
T |
11: 20,675,712 (GRCm39) |
H632Q |
probably benign |
Het |
Arhgef11 |
A |
T |
3: 87,633,275 (GRCm39) |
I710F |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,338,153 (GRCm39) |
N341S |
possibly damaging |
Het |
Ccsap |
T |
G |
8: 124,585,986 (GRCm39) |
D55A |
probably benign |
Het |
Cdh17 |
A |
G |
4: 11,817,037 (GRCm39) |
N816S |
probably benign |
Het |
Celf3 |
A |
G |
3: 94,386,489 (GRCm39) |
I26V |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Chek2 |
A |
G |
5: 111,008,766 (GRCm39) |
E299G |
possibly damaging |
Het |
Clca3a2 |
A |
G |
3: 144,793,719 (GRCm39) |
V312A |
possibly damaging |
Het |
Cnn1 |
A |
G |
9: 22,012,447 (GRCm39) |
K25R |
probably benign |
Het |
Cry1 |
A |
T |
10: 84,978,977 (GRCm39) |
Y516* |
probably null |
Het |
Dcaf4 |
T |
C |
12: 83,588,333 (GRCm39) |
S498P |
probably benign |
Het |
Dmgdh |
T |
C |
13: 93,843,244 (GRCm39) |
V360A |
probably benign |
Het |
Dnajc18 |
G |
A |
18: 35,816,324 (GRCm39) |
R205* |
probably null |
Het |
Eif4a2 |
G |
T |
16: 22,927,372 (GRCm39) |
G22C |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,150,923 (GRCm39) |
I196T |
probably damaging |
Het |
Epha3 |
A |
G |
16: 63,472,859 (GRCm39) |
I342T |
possibly damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Etf1 |
G |
A |
18: 35,064,891 (GRCm39) |
P35L |
unknown |
Het |
Etnk2 |
A |
C |
1: 133,307,127 (GRCm39) |
*386C |
probably null |
Het |
Fgg |
A |
T |
3: 82,920,141 (GRCm39) |
I307F |
probably benign |
Het |
Flg2 |
A |
G |
3: 93,110,069 (GRCm39) |
Q699R |
unknown |
Het |
Foxp4 |
T |
A |
17: 48,191,778 (GRCm39) |
T120S |
unknown |
Het |
Fzd1 |
A |
G |
5: 4,807,060 (GRCm39) |
V174A |
possibly damaging |
Het |
Gad1 |
A |
C |
2: 70,404,610 (GRCm39) |
I167L |
probably benign |
Het |
Gfm2 |
T |
A |
13: 97,282,171 (GRCm39) |
D55E |
probably benign |
Het |
Grb14 |
G |
T |
2: 64,805,929 (GRCm39) |
A12E |
probably benign |
Het |
Hnmt |
A |
C |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
Kit |
A |
G |
5: 75,801,829 (GRCm39) |
I615V |
probably benign |
Het |
Kpna6 |
A |
G |
4: 129,555,097 (GRCm39) |
|
probably null |
Het |
Lpxn |
C |
T |
19: 12,810,052 (GRCm39) |
R275C |
probably damaging |
Het |
Magi1 |
C |
T |
6: 94,260,066 (GRCm39) |
G80S |
probably damaging |
Het |
Men1 |
A |
G |
19: 6,388,316 (GRCm39) |
I312V |
probably benign |
Het |
Msx2 |
A |
G |
13: 53,622,528 (GRCm39) |
F161L |
probably damaging |
Het |
Mtr |
T |
C |
13: 12,205,139 (GRCm39) |
D1107G |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,575,434 (GRCm39) |
M1397L |
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,951,473 (GRCm39) |
N259S |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,196,178 (GRCm39) |
K1242R |
probably benign |
Het |
Myoc |
T |
C |
1: 162,476,601 (GRCm39) |
V435A |
possibly damaging |
Het |
Nbea |
G |
A |
3: 55,966,056 (GRCm39) |
Q469* |
probably null |
Het |
Ndufa10 |
A |
C |
1: 92,390,869 (GRCm39) |
M227R |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,953,536 (GRCm39) |
D3831N |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,015,400 (GRCm39) |
E1024G |
probably damaging |
Het |
Oma1 |
T |
C |
4: 103,176,671 (GRCm39) |
L145P |
probably damaging |
Het |
Phf11 |
T |
C |
14: 59,485,418 (GRCm39) |
Y114C |
probably damaging |
Het |
Phf12 |
C |
A |
11: 77,920,465 (GRCm39) |
N1000K |
probably benign |
Het |
Plxnb1 |
G |
T |
9: 108,938,687 (GRCm39) |
A1350S |
probably benign |
Het |
Prkd1 |
C |
T |
12: 50,388,799 (GRCm39) |
V915I |
probably damaging |
Het |
Prkra |
T |
A |
2: 76,463,982 (GRCm39) |
N227Y |
probably damaging |
Het |
Prtg |
A |
T |
9: 72,798,077 (GRCm39) |
H681L |
probably damaging |
Het |
Rtn1 |
T |
C |
12: 72,355,193 (GRCm39) |
K251R |
probably benign |
Het |
Sema6b |
A |
T |
17: 56,431,803 (GRCm39) |
V620E |
possibly damaging |
Het |
Senp7 |
T |
A |
16: 55,974,000 (GRCm39) |
L407* |
probably null |
Het |
Shtn1 |
A |
G |
19: 58,988,326 (GRCm39) |
L453P |
probably damaging |
Het |
Slc26a6 |
G |
A |
9: 108,733,230 (GRCm39) |
R43H |
probably benign |
Het |
Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
Taf2 |
A |
G |
15: 54,926,416 (GRCm39) |
F178S |
probably damaging |
Het |
Tcp10a |
G |
A |
17: 7,601,716 (GRCm39) |
E239K |
probably benign |
Het |
Ubox5 |
A |
G |
2: 130,442,333 (GRCm39) |
V118A |
probably damaging |
Het |
Unc13d |
C |
A |
11: 115,958,973 (GRCm39) |
L729F |
probably damaging |
Het |
Vmn1r228 |
T |
C |
17: 20,996,724 (GRCm39) |
T265A |
probably benign |
Het |
Vmn2r100 |
G |
A |
17: 19,751,612 (GRCm39) |
V615I |
probably damaging |
Het |
Vmn2r60 |
T |
G |
7: 41,791,690 (GRCm39) |
C538G |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,524,291 (GRCm39) |
N95I |
probably damaging |
Het |
Vsig2 |
A |
G |
9: 37,451,264 (GRCm39) |
N55S |
probably benign |
Het |
Zfp472 |
A |
G |
17: 33,197,088 (GRCm39) |
T388A |
probably benign |
Het |
Zfp853 |
G |
A |
5: 143,274,826 (GRCm39) |
Q214* |
probably null |
Het |
Zfp949 |
A |
G |
9: 88,451,293 (GRCm39) |
R288G |
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 |
|
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'- ATAACGTATAGCTGCAGAGGTG -3'
(R):5'- CTATATGGCCTGTCCTTGGG -3'
Sequencing Primer
(F):5'- TCGTTCTTCTCGATGACAT -3'
(R):5'- CCTGTCCTTGGGGCCCG -3'
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Posted On |
2020-07-28 |