Incidental Mutation 'R7695:Sh3pxd2a'
ID |
593636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
045758-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7695 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47256270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 844
(Y844F)
|
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: Y844F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: Y844F
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: Y816F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: Y816F
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: 99.7%
- 20x: 99.2%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
C |
15: 74,415,487 (GRCm39) |
V689A |
possibly damaging |
Het |
Casp12 |
A |
G |
9: 5,353,641 (GRCm39) |
E225G |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,868,668 (GRCm39) |
L806P |
probably damaging |
Het |
Ccnd3 |
T |
A |
17: 47,908,421 (GRCm39) |
I164N |
probably damaging |
Het |
Cd209b |
A |
G |
8: 3,976,005 (GRCm39) |
V52A |
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,310,069 (GRCm39) |
R1554W |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,497,260 (GRCm39) |
I239N |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,683,777 (GRCm39) |
V948D |
|
Het |
Dnmt1 |
C |
A |
9: 20,825,281 (GRCm39) |
G1061V |
probably null |
Het |
Dpysl4 |
A |
G |
7: 138,666,039 (GRCm39) |
M1V |
probably null |
Het |
Elp5 |
T |
C |
11: 69,860,327 (GRCm39) |
T227A |
probably benign |
Het |
Exosc1 |
G |
A |
19: 41,916,519 (GRCm39) |
H86Y |
possibly damaging |
Het |
Foxn4 |
G |
T |
5: 114,394,648 (GRCm39) |
D426E |
probably damaging |
Het |
Gabbr2 |
A |
G |
4: 46,875,687 (GRCm39) |
L145P |
probably damaging |
Het |
Gkn3 |
A |
G |
6: 87,361,422 (GRCm39) |
Y126H |
probably damaging |
Het |
Gm16506 |
A |
G |
14: 43,962,463 (GRCm39) |
F148S |
|
Het |
Gm3558 |
A |
G |
14: 19,121,623 (GRCm39) |
I76T |
probably benign |
Het |
Gm49359 |
A |
G |
13: 62,604,558 (GRCm39) |
F45S |
possibly damaging |
Het |
Gpc5 |
A |
T |
14: 115,330,026 (GRCm39) |
H63L |
unknown |
Het |
H2bl1 |
T |
C |
13: 99,120,766 (GRCm39) |
T87A |
probably damaging |
Het |
Hbs1l |
A |
T |
10: 21,175,116 (GRCm39) |
D28V |
possibly damaging |
Het |
Ide |
G |
A |
19: 37,306,435 (GRCm39) |
H113Y |
|
Het |
Igkv3-3 |
A |
T |
6: 70,664,295 (GRCm39) |
S46C |
probably damaging |
Het |
Igsf10 |
A |
T |
3: 59,233,612 (GRCm39) |
V1707D |
probably damaging |
Het |
Kcna5 |
A |
T |
6: 126,511,174 (GRCm39) |
V318E |
probably damaging |
Het |
Kdm3b |
T |
C |
18: 34,927,612 (GRCm39) |
F158S |
possibly damaging |
Het |
Lrrc14b |
T |
A |
13: 74,511,297 (GRCm39) |
D261V |
possibly damaging |
Het |
Lrrc71 |
T |
A |
3: 87,646,769 (GRCm39) |
I485F |
probably damaging |
Het |
Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
Mast1 |
A |
G |
8: 85,647,557 (GRCm39) |
V560A |
probably damaging |
Het |
Mfap4 |
A |
T |
11: 61,376,545 (GRCm39) |
|
probably null |
Het |
Myh9 |
A |
G |
15: 77,650,936 (GRCm39) |
I1637T |
probably benign |
Het |
Neo1 |
A |
T |
9: 58,810,212 (GRCm39) |
F1080I |
possibly damaging |
Het |
Or1e17 |
T |
A |
11: 73,831,720 (GRCm39) |
V216E |
possibly damaging |
Het |
Or4k48 |
A |
G |
2: 111,475,970 (GRCm39) |
V124A |
probably damaging |
Het |
Or4x6 |
A |
G |
2: 89,949,207 (GRCm39) |
V245A |
probably benign |
Het |
Or51a25 |
T |
C |
7: 102,372,866 (GRCm39) |
H277R |
probably benign |
Het |
Pax2 |
A |
G |
19: 44,821,638 (GRCm39) |
Y318C |
probably damaging |
Het |
Pcnx4 |
A |
T |
12: 72,588,350 (GRCm39) |
M53L |
probably benign |
Het |
Pkd2l2 |
T |
A |
18: 34,561,298 (GRCm39) |
D435E |
possibly damaging |
Het |
Plec |
G |
A |
15: 76,068,055 (GRCm39) |
Q1117* |
probably null |
Het |
Ppp2r2c |
T |
C |
5: 37,104,526 (GRCm39) |
L302P |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,232,497 (GRCm39) |
F855L |
probably benign |
Het |
Reg3d |
A |
T |
6: 78,354,119 (GRCm39) |
W103R |
probably benign |
Het |
Rnf216 |
A |
C |
5: 143,071,659 (GRCm39) |
H440Q |
possibly damaging |
Het |
Scn2a |
A |
G |
2: 65,542,251 (GRCm39) |
T785A |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Spp1 |
T |
C |
5: 104,583,009 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,330,633 (GRCm39) |
S196T |
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,073,891 (GRCm39) |
S285L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,666,305 (GRCm39) |
R11584* |
probably null |
Het |
Ubap2 |
A |
G |
4: 41,211,740 (GRCm39) |
S341P |
probably damaging |
Het |
Upf3a |
T |
G |
8: 13,848,279 (GRCm39) |
S358R |
probably benign |
Het |
Zdbf2 |
T |
A |
1: 63,346,529 (GRCm39) |
I1636N |
possibly damaging |
Het |
Zfp946 |
C |
A |
17: 22,674,002 (GRCm39) |
T252N |
probably benign |
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 |
|
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'- CCTCTTTGCTAGCTGTGTCAGG -3'
(R):5'- AAAGCCAGTCCTGAACCGAG -3'
Sequencing Primer
(F):5'- CAGGTTGCTGGTTCTCCTCG -3'
(R):5'- GATATTAGTTCCTTACGGCGCCAG -3'
|
Posted On |
2019-11-12 |