Incidental Mutation 'R2024:Sh3pxd2a'
ID |
220355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
040033-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2024 (G1)
|
Quality Score |
210 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47255703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1033
(E1033G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
AlphaFold |
O89032 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081619
AA Change: E1033G
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: E1033G
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 benign
Transcript: ENSMUST00000111800
AA Change: E1005G
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: E1005G
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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 90.8%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
A |
G |
15: 96,259,680 (GRCm39) |
D280G |
probably damaging |
Het |
Atosa |
A |
G |
9: 74,917,672 (GRCm39) |
D757G |
probably damaging |
Het |
Azi2 |
C |
T |
9: 117,878,390 (GRCm39) |
R77* |
probably null |
Het |
Chd8 |
T |
C |
14: 52,468,950 (GRCm39) |
D556G |
probably benign |
Het |
Cit |
T |
C |
5: 116,085,983 (GRCm39) |
M849T |
probably damaging |
Het |
Cit |
T |
C |
5: 116,143,899 (GRCm39) |
S1923P |
probably damaging |
Het |
Col17a1 |
T |
A |
19: 47,639,185 (GRCm39) |
H1120L |
probably benign |
Het |
Col6a5 |
G |
T |
9: 105,814,193 (GRCm39) |
H606Q |
unknown |
Het |
Dnajc2 |
A |
C |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
Dpp6 |
A |
G |
5: 27,914,457 (GRCm39) |
D514G |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,129,062 (GRCm39) |
S1818P |
probably damaging |
Het |
Efemp1 |
A |
T |
11: 28,864,696 (GRCm39) |
Y250F |
possibly damaging |
Het |
Emc1 |
G |
A |
4: 139,088,257 (GRCm39) |
E342K |
possibly damaging |
Het |
Fam3c |
T |
C |
6: 22,329,592 (GRCm39) |
D45G |
probably benign |
Het |
Fchsd2 |
A |
C |
7: 100,847,740 (GRCm39) |
D210A |
possibly damaging |
Het |
Flg |
T |
A |
3: 93,186,722 (GRCm39) |
M58K |
probably damaging |
Het |
Gabra5 |
G |
A |
7: 57,138,698 (GRCm39) |
R117C |
probably damaging |
Het |
Gm6741 |
G |
A |
17: 91,544,309 (GRCm39) |
S24N |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,462,107 (GRCm39) |
D675G |
possibly damaging |
Het |
Hectd4 |
T |
G |
5: 121,419,981 (GRCm39) |
V642G |
possibly damaging |
Het |
Herc6 |
C |
T |
6: 57,560,317 (GRCm39) |
T119M |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hmgcs2 |
T |
C |
3: 98,206,530 (GRCm39) |
S371P |
probably damaging |
Het |
Idua |
C |
T |
5: 108,828,600 (GRCm39) |
A271V |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,623,072 (GRCm39) |
C125* |
probably null |
Het |
Krt14 |
C |
T |
11: 100,098,044 (GRCm39) |
G80R |
unknown |
Het |
Lama5 |
T |
C |
2: 179,820,923 (GRCm39) |
Y3176C |
probably benign |
Het |
Lce1k |
C |
T |
3: 92,713,809 (GRCm39) |
C125Y |
unknown |
Het |
Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
Meioc |
C |
T |
11: 102,566,184 (GRCm39) |
A600V |
probably benign |
Het |
Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
Mms22l |
A |
G |
4: 24,588,365 (GRCm39) |
Y999C |
probably damaging |
Het |
Ncbp3 |
T |
A |
11: 72,944,346 (GRCm39) |
M116K |
possibly damaging |
Het |
Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
Nkx3-1 |
T |
C |
14: 69,428,266 (GRCm39) |
I38T |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or4k49 |
T |
A |
2: 111,495,168 (GRCm39) |
M199K |
possibly damaging |
Het |
Padi6 |
T |
G |
4: 140,456,279 (GRCm39) |
I572L |
possibly damaging |
Het |
Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,746,272 (GRCm39) |
V1906A |
probably benign |
Het |
Pom121 |
T |
C |
5: 135,410,404 (GRCm39) |
|
probably benign |
Het |
Psmd9 |
T |
C |
5: 123,379,925 (GRCm39) |
F115L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,076,415 (GRCm39) |
F160L |
probably damaging |
Het |
Rhbdl2 |
A |
T |
4: 123,720,665 (GRCm39) |
R234S |
probably damaging |
Het |
Rnase2a |
T |
A |
14: 51,493,245 (GRCm39) |
Y40F |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,378,201 (GRCm39) |
V672A |
possibly damaging |
Het |
Sgpp2 |
A |
G |
1: 78,393,857 (GRCm39) |
I287V |
probably benign |
Het |
Slc5a9 |
G |
A |
4: 111,747,728 (GRCm39) |
T284I |
probably damaging |
Het |
Slfn9 |
A |
G |
11: 82,872,507 (GRCm39) |
L743P |
probably damaging |
Het |
Smchd1 |
T |
A |
17: 71,677,923 (GRCm39) |
N1473I |
probably benign |
Het |
Stx1b |
A |
T |
7: 127,414,575 (GRCm39) |
D16E |
probably benign |
Het |
Tectb |
T |
C |
19: 55,170,361 (GRCm39) |
F71L |
probably damaging |
Het |
Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
Tnc |
A |
G |
4: 63,882,858 (GRCm39) |
V1921A |
probably damaging |
Het |
Ubn1 |
T |
G |
16: 4,882,487 (GRCm39) |
L316W |
probably damaging |
Het |
Vwa5a |
T |
C |
9: 38,647,357 (GRCm39) |
S579P |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,228,300 (GRCm39) |
L367P |
possibly damaging |
Het |
Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
Zfp990 |
A |
C |
4: 145,263,974 (GRCm39) |
Y324S |
possibly 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 |
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 |
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'- TGAAGGGCTTCACCTCATCC -3'
(R):5'- AGGCCCCAATCTGTGTTTG -3'
Sequencing Primer
(F):5'- AGGATCTGGCAGTACCACCAG -3'
(R):5'- TGTGTCTCCGCCACCCAAG -3'
|
Posted On |
2014-08-25 |