Mutagenetix > Incidental Mutation

Incidental Mutation 'R4939:Sh3pxd2a'

382969

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2a

Ensembl Gene

ENSMUSG00000053617

Gene Name

SH3 and PX domains 2A

Synonyms

2310014D11Rik, Fish, Tks5, Sh3md1

MMRRC Submission

042538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47248613-47452840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47266843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 277 (Y277H)

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: Y277H

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

SMART Domains

Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: Y277H

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: Y249H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: Y249H

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,161,962 (GRCm39)	Y365F	possibly damaging	Het
Atp2a1	T	C	7: 126,049,288 (GRCm39)	M585V	probably benign	Het
Brca1	A	G	11: 101,398,876 (GRCm39)	V1572A	probably benign	Het
C1ql4	A	T	15: 98,985,521 (GRCm39)	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,822,502 (GRCm39)		probably null	Het
Cdk6	A	T	5: 3,394,377 (GRCm39)	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Clic4	T	C	4: 134,950,852 (GRCm39)	E113G	probably benign	Het
Creld1	C	A	6: 113,465,140 (GRCm39)	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,104,873 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,530,144 (GRCm39)	S246R	probably damaging	Het
Dnah12	A	T	14: 26,613,481 (GRCm39)	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,683 (GRCm39)	D446V	probably damaging	Het
Dock8	A	T	19: 25,099,764 (GRCm39)	Y629F	probably damaging	Het
Duxf4	T	C	10: 58,071,425 (GRCm39)	N263S	probably benign	Het
E2f8	A	T	7: 48,521,886 (GRCm39)	N405K	probably benign	Het
Flg	A	G	3: 93,187,154 (GRCm39)	N202S	probably benign	Het
Glyatl3	A	G	17: 41,220,914 (GRCm39)		probably null	Het
Gm38999	A	G	7: 43,077,885 (GRCm39)	T63A	possibly damaging	Het
Grap	A	G	11: 61,551,124 (GRCm39)	Y52C	probably damaging	Het
Haus2	T	A	2: 120,449,517 (GRCm39)	I187K	probably damaging	Het
Heatr5b	T	C	17: 79,069,689 (GRCm39)	E1686G	probably benign	Het
Herc2	A	G	7: 55,856,484 (GRCm39)	D3944G	probably damaging	Het
Hexd	A	T	11: 121,098,542 (GRCm39)	M9L	probably benign	Het
Hoxa3	T	C	6: 52,147,656 (GRCm39)		probably benign	Het
Hspg2	A	T	4: 137,235,342 (GRCm39)	I126F	probably damaging	Het
Itpr1	T	A	6: 108,417,519 (GRCm39)	C123*	probably null	Het
Jmjd1c	T	A	10: 67,081,916 (GRCm39)	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,967,135 (GRCm39)	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,865,245 (GRCm39)	S747R	possibly damaging	Het
Krt26	T	C	11: 99,225,522 (GRCm39)	M320V	probably benign	Het
Lama1	T	G	17: 68,044,470 (GRCm39)	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,002,582 (GRCm39)	D1103G	probably damaging	Het
Lepr	A	T	4: 101,590,635 (GRCm39)	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,600,805 (GRCm39)		probably null	Het
Mcoln2	A	T	3: 145,897,996 (GRCm39)	H39L	probably benign	Het
Mtrex	T	C	13: 113,046,426 (GRCm39)	D308G	possibly damaging	Het
Myh11	T	A	16: 14,057,371 (GRCm39)	T315S	probably benign	Het
Ncapd3	T	C	9: 26,975,165 (GRCm39)		probably null	Het
Nlrp9b	G	T	7: 19,758,421 (GRCm39)	V553F	probably damaging	Het
Nubpl	A	G	12: 52,227,878 (GRCm39)	N129S	probably damaging	Het
Nup214	C	A	2: 31,873,171 (GRCm39)	T255K	probably benign	Het
Or10j3	T	C	1: 173,031,030 (GRCm39)	Y36H	possibly damaging	Het
Or2t46	G	T	11: 58,472,037 (GRCm39)	M122I	probably damaging	Het
Or2y17	A	G	11: 49,231,376 (GRCm39)	T6A	probably benign	Het
Or4d1	G	T	11: 87,804,950 (GRCm39)	P261T	probably damaging	Het
Or52z14	T	C	7: 103,253,458 (GRCm39)	V199A	probably benign	Het
Or5b3	T	A	19: 13,388,219 (GRCm39)	N95K	probably benign	Het
Orc3	G	A	4: 34,593,126 (GRCm39)	Q256*	probably null	Het
Pbrm1	A	G	14: 30,783,580 (GRCm39)	M566V	probably damaging	Het
Pde6b	A	G	5: 108,569,363 (GRCm39)	I357V	probably benign	Het
Pkdrej	A	G	15: 85,704,484 (GRCm39)	I484T	possibly damaging	Het
Plvap	A	G	8: 71,964,083 (GRCm39)	V93A	probably benign	Het
Plxna4	T	C	6: 32,142,697 (GRCm39)	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,255,817 (GRCm39)	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,665,335 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,169,223 (GRCm39)	N997S	probably benign	Het
Rpap2	G	T	5: 107,751,491 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,116,131 (GRCm39)	V683A	probably benign	Het
Ruvbl1	A	G	6: 88,460,021 (GRCm39)		probably null	Het
Shank1	C	T	7: 43,975,586 (GRCm39)	P477S	unknown	Het
Shtn1	T	C	19: 59,010,633 (GRCm39)	E278G	probably benign	Het
Skap2	T	A	6: 51,899,303 (GRCm39)	I109F	possibly damaging	Het
Slc28a3	A	C	13: 58,706,395 (GRCm39)	I615M	probably benign	Het
Slc4a11	A	G	2: 130,526,788 (GRCm39)	L780P	probably damaging	Het
Slc5a4b	T	C	10: 75,917,301 (GRCm39)	E245G	probably benign	Het
Slfn8	C	T	11: 82,894,111 (GRCm39)	A843T	probably benign	Het
Sncaip	A	T	18: 53,040,335 (GRCm39)	Q843L	possibly damaging	Het
Spidr	T	A	16: 15,958,610 (GRCm39)	K51*	probably null	Het
Spopfm2	A	T	3: 94,083,540 (GRCm39)	Y90*	probably null	Het
Tas2r123	T	C	6: 132,824,808 (GRCm39)	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,278,335 (GRCm39)	D757G	probably benign	Het
Tmem132d	A	T	5: 127,873,139 (GRCm39)	V490D	probably damaging	Het
Top2a	T	A	11: 98,900,918 (GRCm39)	H557L	probably damaging	Het
Trafd1	A	G	5: 121,513,254 (GRCm39)	I328T	probably benign	Het
Trappc11	G	A	8: 47,972,700 (GRCm39)	A291V	probably damaging	Het
Tuba1c	A	G	15: 98,935,835 (GRCm39)	Y432C	probably damaging	Het
Utp11	T	G	4: 124,577,043 (GRCm39)	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,542,316 (GRCm39)	T239P	probably damaging	Het
Vwce	A	T	19: 10,622,414 (GRCm39)	N239Y	probably damaging	Het
Yes1	T	C	5: 32,802,457 (GRCm39)		probably null	Het
Zfand6	A	C	7: 84,265,030 (GRCm39)	*224G	probably null	Het
Zfp408	A	T	2: 91,475,450 (GRCm39)	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,795,244 (GRCm39)		probably null	Het
Zfp946	T	C	17: 22,674,418 (GRCm39)	F391L	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
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'- CACGCAGTTGTCTTTGGAATC -3'
(R):5'- GCTTTGGCTTATCCTGGGAAC -3'

Sequencing Primer
(F):5'- TGGAATCTACCTGCCCATCAG -3'
(R):5'- TGGGAACAGCAGCAACC -3'

Posted On

2016-04-27