Mutagenetix > Incidental Mutation

Incidental Mutation 'R0504:Sh3pxd2a'

47424

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2a

Ensembl Gene

ENSMUSG00000053617

Gene Name

SH3 and PX domains 2A

Synonyms

2310014D11Rik, Fish, Tks5, Sh3md1

MMRRC Submission

038699-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0504 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47248613-47452840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47256186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 844 (Y844C)

Ref Sequence

ENSEMBL: ENSMUSP00000107430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081619] [ENSMUST00000111800]

AlphaFold

O89032

Predicted Effect

probably damaging
Transcript: ENSMUST00000081619
AA Change: Y872C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: Y872C

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: Y844C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: Y844C

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

0.9023

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (145/147)

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: 145 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,128,057 (GRCm39)		probably benign	Het
Adamts6	T	C	13: 104,563,438 (GRCm39)		probably benign	Het
Adamts9	T	A	6: 92,889,626 (GRCm39)	Y316F	probably damaging	Het
Agl	A	T	3: 116,580,433 (GRCm39)	F374I	probably damaging	Het
Akr1c19	A	G	13: 4,286,250 (GRCm39)	T83A	possibly damaging	Het
Ankrd36	T	A	11: 5,579,274 (GRCm39)	S179R	probably damaging	Het
Appbp2	A	G	11: 85,082,513 (GRCm39)	S573P	probably benign	Het
Arid4a	T	A	12: 71,093,988 (GRCm39)	F254I	probably damaging	Het
Bin3	T	C	14: 70,361,336 (GRCm39)		probably null	Het
Bmi1	T	C	2: 18,688,883 (GRCm39)		probably null	Het
Bmper	G	T	9: 23,317,983 (GRCm39)	C534F	probably damaging	Het
Bora	T	A	14: 99,299,059 (GRCm39)	C205*	probably null	Het
Btnl2	A	G	17: 34,577,091 (GRCm39)	E82G	probably benign	Het
Ccdc8	A	T	7: 16,729,939 (GRCm39)	D476V	unknown	Het
Ccr3	C	A	9: 123,829,478 (GRCm39)	T271K	possibly damaging	Het
Cd276	A	G	9: 58,447,961 (GRCm39)	L23P	possibly damaging	Het
Cd3e	T	C	9: 44,913,552 (GRCm39)	Q61R	probably benign	Het
Cep97	A	G	16: 55,726,142 (GRCm39)	S582P	probably benign	Het
Chml	A	T	1: 175,514,748 (GRCm39)	M391K	probably damaging	Het
Chst1	A	G	2: 92,444,169 (GRCm39)	N214D	probably benign	Het
Chuk	T	C	19: 44,070,377 (GRCm39)		probably benign	Het
Col12a1	G	A	9: 79,588,750 (GRCm39)	H1122Y	possibly damaging	Het
Cpne6	A	G	14: 55,752,059 (GRCm39)	K272R	probably damaging	Het
Cpsf2	T	A	12: 101,956,262 (GRCm39)	L355Q	probably damaging	Het
Cyp2c29	T	A	19: 39,298,224 (GRCm39)	D256E	probably benign	Het
Daglb	G	A	5: 143,479,952 (GRCm39)	V420I	probably benign	Het
Ddx42	G	T	11: 106,138,675 (GRCm39)	G825C	probably benign	Het
Dis3	T	C	14: 99,318,826 (GRCm39)		probably benign	Het
Dkk4	C	T	8: 23,115,359 (GRCm39)	R70C	probably damaging	Het
Dock6	G	T	9: 21,713,732 (GRCm39)	Q1933K	probably damaging	Het
Dpep2	T	G	8: 106,716,620 (GRCm39)	Q186H	probably benign	Het
Dzip3	A	C	16: 48,780,006 (GRCm39)		probably benign	Het
Egflam	T	A	15: 7,252,239 (GRCm39)	I853F	probably damaging	Het
Fastkd5	A	G	2: 130,457,837 (GRCm39)	I251T	probably benign	Het
Fbn2	T	A	18: 58,172,532 (GRCm39)	D2091V	possibly damaging	Het
Fem1al	T	C	11: 29,774,990 (GRCm39)	I156V	probably damaging	Het
Fer1l4	C	A	2: 155,894,115 (GRCm39)	V63L	probably benign	Het
Frem1	T	A	4: 82,830,874 (GRCm39)	D2062V	probably benign	Het
Galnt6	A	C	15: 100,594,538 (GRCm39)		probably benign	Het
Get3	A	C	8: 85,745,236 (GRCm39)	V277G	probably damaging	Het
Gm10972	A	T	3: 94,550,440 (GRCm39)		probably benign	Het
Gm4846	G	A	1: 166,319,114 (GRCm39)	T208I	probably benign	Het
Gorab	A	G	1: 163,214,174 (GRCm39)	L252P	probably damaging	Het
Gtsf2	A	G	15: 103,352,988 (GRCm39)	C63R	probably damaging	Het
Hal	T	C	10: 93,325,036 (GRCm39)	V15A	probably damaging	Het
Hmcn1	A	T	1: 150,752,170 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,833 (GRCm39)	H191Q	possibly damaging	Het
Hspa2	A	T	12: 76,451,990 (GRCm39)	D228V	probably damaging	Het
Igfn1	A	T	1: 135,896,267 (GRCm39)	M1433K	probably benign	Het
Il18	A	G	9: 50,486,628 (GRCm39)	D19G	probably damaging	Het
Il1rl2	G	A	1: 40,368,216 (GRCm39)	V129I	probably benign	Het
Inpp5b	C	A	4: 124,676,201 (GRCm39)	Y352*	probably null	Het
Insrr	A	T	3: 87,720,463 (GRCm39)	M1034L	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,534 (GRCm39)	S1296P	probably damaging	Het
Kdm5b	G	T	1: 134,548,761 (GRCm39)		probably null	Het
Krba1	C	T	6: 48,393,188 (GRCm39)	T998I	probably benign	Het
L3mbtl4	A	G	17: 69,084,907 (GRCm39)	N606S	probably benign	Het
Lonrf1	T	A	8: 36,698,313 (GRCm39)	N395I	possibly damaging	Het
Lpp	A	G	16: 24,790,720 (GRCm39)	D393G	probably damaging	Het
Lrrc17	A	G	5: 21,765,528 (GRCm39)	I3M	probably benign	Het
Lrrtm4	A	T	6: 79,999,029 (GRCm39)	Q147L	probably damaging	Het
Map1a	A	G	2: 121,133,422 (GRCm39)	M1413V	probably benign	Het
Mapk8ip2	A	G	15: 89,340,861 (GRCm39)	E102G	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mdn1	T	C	4: 32,698,916 (GRCm39)		probably benign	Het
Mfng	A	C	15: 78,641,514 (GRCm39)	H294Q	probably benign	Het
Mical2	T	A	7: 111,870,524 (GRCm39)	N4K	probably benign	Het
Mov10l1	T	A	15: 88,883,042 (GRCm39)	V384E	probably damaging	Het
Myo18b	A	G	5: 113,021,442 (GRCm39)		probably benign	Het
Nlrp1b	T	G	11: 71,073,241 (GRCm39)	I201L	probably damaging	Het
Nos2	C	T	11: 78,830,903 (GRCm39)	P249L	probably damaging	Het
Notch4	A	G	17: 34,794,065 (GRCm39)	T681A	probably damaging	Het
Nr1i3	C	T	1: 171,044,805 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,899,333 (GRCm39)		probably null	Het
Onecut2	A	T	18: 64,473,820 (GRCm39)	I124F	possibly damaging	Het
Or10a49	C	T	7: 108,468,057 (GRCm39)	M101I	possibly damaging	Het
Or2a14	A	T	6: 43,130,395 (GRCm39)	H52L	probably benign	Het
Or2ag1	T	A	7: 106,313,908 (GRCm39)		probably benign	Het
Or2f2	C	T	6: 42,767,530 (GRCm39)	R186*	probably null	Het
Or2t47	C	A	11: 58,442,462 (GRCm39)	C201F	probably damaging	Het
Or4a75	A	T	2: 89,448,438 (GRCm39)	Y33N	probably damaging	Het
Or4c123	C	T	2: 89,127,083 (GRCm39)	C177Y	probably damaging	Het
Or52u1	C	T	7: 104,237,682 (GRCm39)	R224*	probably null	Het
Or5m12	T	A	2: 85,735,030 (GRCm39)	M123L	possibly damaging	Het
Or8b35	A	G	9: 37,904,438 (GRCm39)	T217A	probably benign	Het
Otol1	G	A	3: 69,934,937 (GRCm39)	G310R	probably damaging	Het
Oxct2b	T	A	4: 123,010,633 (GRCm39)	S184R	possibly damaging	Het
Oxct2b	ACTG	A	4: 123,010,705 (GRCm39)		probably benign	Het
P2rx6	A	G	16: 17,385,291 (GRCm39)		probably benign	Het
Pde4a	A	G	9: 21,115,699 (GRCm39)	N411S	probably damaging	Het
Phkb	A	T	8: 86,783,153 (GRCm39)	D983V	probably benign	Het
Piezo2	G	A	18: 63,157,522 (GRCm39)	T2396I	probably damaging	Het
Pik3ap1	T	A	19: 41,275,929 (GRCm39)	D717V	probably damaging	Het
Plce1	T	A	19: 38,766,465 (GRCm39)		probably benign	Het
Plekhg1	A	G	10: 3,887,853 (GRCm39)	I261V	probably damaging	Het
Ppfia4	T	C	1: 134,251,851 (GRCm39)	H441R	probably damaging	Het
Prpf8	T	A	11: 75,392,768 (GRCm39)		probably benign	Het
Ptn	T	A	6: 36,718,388 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,649,362 (GRCm39)	Y255C	possibly damaging	Het
Ptpn4	A	G	1: 119,693,645 (GRCm39)	Y126H	probably damaging	Het
Ptprc	T	C	1: 138,016,435 (GRCm39)	N505D	probably damaging	Het
Ptprs	T	A	17: 56,761,220 (GRCm39)	I116F	possibly damaging	Het
Rab1a	T	G	11: 20,173,169 (GRCm39)	V90G	probably damaging	Het
Rcor1	T	C	12: 111,068,102 (GRCm39)	V267A	probably benign	Het
Reep4	A	G	14: 70,784,678 (GRCm39)		probably null	Het
Rere	T	A	4: 150,699,779 (GRCm39)		probably benign	Het
Rin3	T	A	12: 102,353,823 (GRCm39)	Y743*	probably null	Het
Rprm	A	G	2: 53,975,067 (GRCm39)	S84P	probably damaging	Het
Sdhaf2	C	T	19: 10,494,383 (GRCm39)	E109K	probably damaging	Het
Sec31b	G	T	19: 44,523,225 (GRCm39)	Q24K	probably damaging	Het
Sema5a	T	C	15: 32,574,949 (GRCm39)		probably benign	Het
Shmt2	A	C	10: 127,355,941 (GRCm39)	N134K	probably damaging	Het
Slc9a8	C	T	2: 167,266,125 (GRCm39)	A34V	probably benign	Het
Spidr	A	C	16: 15,957,936 (GRCm39)	S64A	possibly damaging	Het
Stk10	A	G	11: 32,567,882 (GRCm39)	T895A	probably benign	Het
Syne2	A	T	12: 76,080,365 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,230,149 (GRCm39)		probably null	Het
Tecpr1	A	T	5: 144,150,899 (GRCm39)	V303D	probably damaging	Het
Tet3	A	G	6: 83,350,776 (GRCm39)	Y1048H	probably damaging	Het
Tfb2m	A	G	1: 179,373,396 (GRCm39)	C101R	probably damaging	Het
Tg	T	C	15: 66,554,253 (GRCm39)	V556A	probably damaging	Het
Thbs4	A	C	13: 92,903,692 (GRCm39)	I441M	probably benign	Het
Thsd7a	A	T	6: 12,379,593 (GRCm39)	Y944N	probably damaging	Het
Tm9sf3	C	A	19: 41,236,331 (GRCm39)		probably benign	Het
Tmem145	T	C	7: 25,010,787 (GRCm39)	F359S	probably damaging	Het
Ttc21b	C	T	2: 66,053,142 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,579,880 (GRCm39)	V23671A	probably damaging	Het
Txnl4b	T	C	8: 110,298,103 (GRCm39)	I78T	probably benign	Het
Ubr4	C	A	4: 139,133,889 (GRCm39)	L762I	probably damaging	Het
Ubr4	T	C	4: 139,208,149 (GRCm39)		probably null	Het
Ugt1a8	C	T	1: 88,016,079 (GRCm39)	P164L	probably damaging	Het
Unc13b	T	C	4: 43,263,559 (GRCm39)	S1594P	probably damaging	Het
Utrn	A	T	10: 12,278,639 (GRCm39)	F912I	probably benign	Het
Vat1l	T	C	8: 114,963,319 (GRCm39)		probably benign	Het
Vmn1r50	T	A	6: 90,084,863 (GRCm39)	S203T	probably damaging	Het
Vmn2r4	A	T	3: 64,296,784 (GRCm39)	L667Q	probably damaging	Het
Vmn2r66	T	G	7: 84,656,023 (GRCm39)	Q331P	probably damaging	Het
Wdsub1	A	T	2: 59,708,669 (GRCm39)	V68D	possibly damaging	Het
Wnk2	C	G	13: 49,238,870 (GRCm39)	A564P	possibly damaging	Het
Wnk2	T	A	13: 49,238,872 (GRCm39)	K563M	probably damaging	Het
Zan	T	A	5: 137,468,580 (GRCm39)	H297L	probably damaging	Het
Zfp426	A	T	9: 20,381,327 (GRCm39)	H539Q	probably damaging	Het
Zfp488	T	A	14: 33,692,497 (GRCm39)	N222I	probably damaging	Het
Zfp536	T	A	7: 37,268,243 (GRCm39)	H391L	probably damaging	Het
Zp1	T	A	19: 10,893,571 (GRCm39)	N31I	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
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
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'- AAACACAGATTGGGGCCTGACG -3'
(R):5'- GTGAGACCAAAGCCAGTCCTGAAC -3'

Sequencing Primer
(F):5'- ATCTTCACCGCTACGGTGC -3'
(R):5'- CTCCACAGATGGCTTCTGAG -3'

Posted On

2013-06-12