Mutagenetix > Incidental Mutation

Incidental Mutation 'R0726:Sh3pxd2a'

63788

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2a

Ensembl Gene

ENSMUSG00000053617

Gene Name

SH3 and PX domains 2A

Synonyms

2310014D11Rik, Fish, Tks5, Sh3md1

MMRRC Submission

038908-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0726 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

47248613-47452840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47257201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 506 (E506K)

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: E534K

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: E534K

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: E506K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: E506K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183658

Meta Mutation Damage Score

0.1626

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.1%
20x: 89.2%

Validation Efficiency

98% (90/92)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	G	7: 143,425,498 (GRCm39)	D49G	probably damaging	Het
Alg12	T	C	15: 88,690,850 (GRCm39)	Y256C	probably damaging	Het
Alox15	T	A	11: 70,241,021 (GRCm39)	D160V	probably damaging	Het
Aox1	T	C	1: 58,373,941 (GRCm39)		probably benign	Het
Bbs9	G	T	9: 22,705,119 (GRCm39)	A729S	probably damaging	Het
Bltp3a	T	C	17: 28,104,463 (GRCm39)	V503A	possibly damaging	Het
Bmp2k	T	A	5: 97,235,353 (GRCm39)		probably benign	Het
Braf	C	T	6: 39,639,082 (GRCm39)	R223Q	possibly damaging	Het
Cd101	A	T	3: 100,927,938 (GRCm39)	S48T	possibly damaging	Het
Cdh9	T	G	15: 16,831,130 (GRCm39)	D322E	probably benign	Het
Col28a1	C	T	6: 8,014,495 (GRCm39)		probably null	Het
Cpxm1	G	A	2: 130,232,859 (GRCm39)	R712W	probably damaging	Het
Csnk1g1	T	C	9: 65,939,637 (GRCm39)		probably benign	Het
Cyp2d37-ps	A	C	15: 82,574,650 (GRCm39)		noncoding transcript	Het
Cyth3	T	C	5: 143,678,397 (GRCm39)	V115A	probably benign	Het
Dnah9	C	T	11: 65,856,507 (GRCm39)	V2885M	probably damaging	Het
Dock9	G	T	14: 121,889,180 (GRCm39)	Y326*	probably null	Het
Espl1	T	C	15: 102,231,033 (GRCm39)	I1844T	probably benign	Het
Fam20a	T	A	11: 109,568,020 (GRCm39)	N357Y	probably damaging	Het
Fancc	C	A	13: 63,471,225 (GRCm39)	R385L	probably benign	Het
Foxe3	A	T	4: 114,782,447 (GRCm39)	L255H	unknown	Het
Frem2	T	C	3: 53,427,047 (GRCm39)	D2967G	possibly damaging	Het
Gabra6	T	G	11: 42,205,954 (GRCm39)	T301P	probably damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Grm4	T	A	17: 27,657,412 (GRCm39)		probably benign	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnj9	G	A	1: 172,153,488 (GRCm39)	S212F	probably damaging	Het
Kif15	C	A	9: 122,788,993 (GRCm39)	H62N	probably benign	Het
Kptn	A	G	7: 15,854,647 (GRCm39)	D106G	probably damaging	Het
Krtap13-1	T	A	16: 88,526,192 (GRCm39)	S139T	probably damaging	Het
Lepr	C	A	4: 101,622,131 (GRCm39)	N354K	probably benign	Het
Lypd3	G	T	7: 24,337,969 (GRCm39)	E112*	probably null	Het
Med13l	A	T	5: 118,886,749 (GRCm39)	N1550I	probably damaging	Het
Mettl2	C	T	11: 105,017,670 (GRCm39)	P60L	probably benign	Het
Mtcl2	G	T	2: 156,902,182 (GRCm39)	R278S	probably damaging	Het
Muc4	A	G	16: 32,590,201 (GRCm39)	E850G	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nek1	A	G	8: 61,542,626 (GRCm39)	R739G	probably damaging	Het
Nipbl	A	T	15: 8,381,039 (GRCm39)	D584E	probably benign	Het
Nkain3	C	T	4: 20,158,388 (GRCm39)	V162M	possibly damaging	Het
Nmrk1	T	C	19: 18,618,844 (GRCm39)		probably benign	Het
Nsd2	T	C	5: 34,018,372 (GRCm39)		probably benign	Het
Or2n1b	T	C	17: 38,459,515 (GRCm39)	F12S	probably damaging	Het
Or4b1	T	A	2: 89,979,627 (GRCm39)	H241L	probably damaging	Het
Or4p23	A	T	2: 88,576,352 (GRCm39)	N293K	probably benign	Het
Or5b24	T	A	19: 12,912,969 (GRCm39)	V289D	probably damaging	Het
Or8b44	T	A	9: 38,410,418 (GRCm39)	M151K	possibly damaging	Het
Otulinl	A	T	15: 27,657,033 (GRCm39)	I338N	probably damaging	Het
Phex	T	A	X: 156,155,557 (GRCm39)		probably benign	Het
Pip5k1b	G	T	19: 24,356,256 (GRCm39)	D227E	probably damaging	Het
Prdm13	A	G	4: 21,683,914 (GRCm39)	I119T	unknown	Het
Rab19	G	T	6: 39,360,893 (GRCm39)	V14L	probably benign	Het
Rasa3	A	G	8: 13,630,118 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,678,074 (GRCm39)	S118N	probably damaging	Het
Rif1	C	T	2: 52,000,365 (GRCm39)	T1273M	possibly damaging	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Sema6a	T	C	18: 47,425,048 (GRCm39)	T188A	probably damaging	Het
Smarca2	A	T	19: 26,675,803 (GRCm39)	K1014N	probably damaging	Het
Smarca4	T	G	9: 21,611,435 (GRCm39)		probably null	Het
Sntb1	T	C	15: 55,539,752 (GRCm39)	R361G	probably benign	Het
Stx5a	T	A	19: 8,732,275 (GRCm39)	I208N	probably damaging	Het
Tas2r102	T	A	6: 132,739,415 (GRCm39)	W108R	probably damaging	Het
Tcl1	A	G	12: 105,184,929 (GRCm39)	Y94H	probably damaging	Het
Tenm3	T	A	8: 48,689,629 (GRCm39)	Y1986F	probably damaging	Het
Tet2	G	A	3: 133,173,945 (GRCm39)	P1439L	probably benign	Het
Tiam2	T	C	17: 3,563,108 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,928,553 (GRCm39)	T526M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ushbp1	T	A	8: 71,841,391 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,915,169 (GRCm39)	R115C	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn2r5	C	T	3: 64,411,186 (GRCm39)	D461N	probably benign	Het
Vmn2r86	A	T	10: 130,282,265 (GRCm39)	F784I	probably damaging	Het
Zfp59	A	T	7: 27,553,513 (GRCm39)	I322F	probably damaging	Het
Zfp607a	A	T	7: 27,578,574 (GRCm39)	H548L	probably benign	Het
Zfp626	G	A	7: 27,518,048 (GRCm39)	C343Y	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
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'- ACTCACCCACCTTGAAATGGGC -3'
(R):5'- AGGGTATCATAGGGACCCTGACAAC -3'

Sequencing Primer
(F):5'- AGGCAGGCGAGATCCTTC -3'
(R):5'- TGCAACTCACTGGCCTG -3'

Posted On

2013-07-30