Mutagenetix > Incidental Mutation

Incidental Mutation 'R1932:Sh3pxd2a'

215530

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2a

Ensembl Gene

ENSMUSG00000053617

Gene Name

SH3 and PX domains 2A

Synonyms

Tks5, Fish, Sh3md1, 2310014D11Rik

MMRRC Submission

039950-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47260174-47464411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47267508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 924 (S924P)

Ref Sequence

ENSEMBL: ENSMUSP00000107430 (fasta)

Gene Model

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

AlphaFold

O89032

Predicted Effect

probably benign
Transcript: ENSMUST00000081619
AA Change: S952P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: S952P

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: S924P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: S924P

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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,279,394 (GRCm38)	Q278H	probably benign	Het
Ace3	T	C	11: 106,004,610 (GRCm38)		probably null	Het
Aco1	T	C	4: 40,176,499 (GRCm38)	V221A	probably damaging	Het
Adamts20	T	A	15: 94,404,010 (GRCm38)	H27L	probably benign	Het
Adamts8	A	G	9: 30,956,512 (GRCm38)	D544G	probably benign	Het
Angptl4	C	A	17: 33,781,275 (GRCm38)	E40*	probably null	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Atf7ip2	T	A	16: 10,241,703 (GRCm38)	I369N	possibly damaging	Het
Atp6ap1l	T	A	13: 90,883,687 (GRCm38)	Y292F	probably damaging	Het
Atp6v1b2	A	T	8: 69,102,807 (GRCm38)	K217*	probably null	Het
Bid	C	T	6: 120,897,255 (GRCm38)	A110T	possibly damaging	Het
Blvra	T	A	2: 127,095,148 (GRCm38)	W174R	probably damaging	Het
Catsperg1	C	T	7: 29,198,143 (GRCm38)	G239R	probably damaging	Het
Ccdc157	G	T	11: 4,146,549 (GRCm38)	A400D	probably damaging	Het
Chd2	G	T	7: 73,454,445 (GRCm38)	P1298T	probably damaging	Het
CK137956	G	A	4: 127,946,858 (GRCm38)	L352F	possibly damaging	Het
Col22a1	G	A	15: 71,870,140 (GRCm38)	P503S	unknown	Het
Cox15	C	T	19: 43,746,785 (GRCm38)	R181H	probably benign	Het
Crem	C	T	18: 3,299,284 (GRCm38)	G47R	probably benign	Het
Crygs	T	A	16: 22,806,554 (GRCm38)	T46S	probably benign	Het
Cts8	T	A	13: 61,253,615 (GRCm38)	H62L	probably damaging	Het
Cyp4a32	T	A	4: 115,611,277 (GRCm38)	F319I	possibly damaging	Het
Dchs1	T	C	7: 105,765,902 (GRCm38)	S692G	probably damaging	Het
Ddx23	G	A	15: 98,650,718 (GRCm38)	R370W	possibly damaging	Het
Defa29	A	T	8: 21,326,849 (GRCm38)	S43T	probably damaging	Het
Dnajc14	A	G	10: 128,816,792 (GRCm38)	D573G	probably damaging	Het
Drd5	A	G	5: 38,319,976 (GRCm38)	Y104C	probably benign	Het
Efcab7	C	T	4: 99,911,018 (GRCm38)	P102L	probably damaging	Het
Efhc1	A	G	1: 20,967,400 (GRCm38)	Y267C	probably damaging	Het
Eif2ak4	T	C	2: 118,448,486 (GRCm38)	Y243H	probably damaging	Het
Gfm2	T	A	13: 97,141,967 (GRCm38)	I7N	probably damaging	Het
Gmds	A	G	13: 32,127,997 (GRCm38)	F150L	possibly damaging	Het
Gp2	T	C	7: 119,454,232 (GRCm38)	T169A	possibly damaging	Het
Grb14	A	G	2: 64,912,802 (GRCm38)	F508L	probably damaging	Het
Hdac5	T	A	11: 102,195,872 (GRCm38)		probably benign	Het
Heatr1	T	A	13: 12,435,185 (GRCm38)	M620K	probably damaging	Het
Herc3	A	G	6: 58,876,793 (GRCm38)	E608G	probably damaging	Het
Hoxb4	T	C	11: 96,320,041 (GRCm38)	Y156H	probably damaging	Het
Ifi205	T	A	1: 174,028,414 (GRCm38)	I17F	possibly damaging	Het
Il2rb	A	T	15: 78,491,777 (GRCm38)	S25T	possibly damaging	Het
Kansl1	T	C	11: 104,335,097 (GRCm38)	T998A	probably damaging	Het
Kcna6	G	T	6: 126,738,488 (GRCm38)	H479Q	probably benign	Het
Kif2a	T	C	13: 106,978,091 (GRCm38)	K350R	probably benign	Het
Lct	G	T	1: 128,294,161 (GRCm38)	A1547E	probably damaging	Het
Lhx9	T	A	1: 138,842,009 (GRCm38)		probably benign	Het
Lingo1	T	A	9: 56,619,650 (GRCm38)	I552F	possibly damaging	Het
Lrp4	G	A	2: 91,497,355 (GRCm38)	W1516*	probably null	Het
Lrp5	C	T	19: 3,610,131 (GRCm38)	V978I	probably benign	Het
Ltbp1	T	A	17: 75,313,034 (GRCm38)	D719E	probably benign	Het
Ltbp4	A	G	7: 27,307,766 (GRCm38)		probably null	Het
Macf1	A	G	4: 123,452,037 (GRCm38)	I1326T	probably damaging	Het
Manba	T	C	3: 135,544,740 (GRCm38)	F376S	probably benign	Het
Mink1	T	C	11: 70,608,428 (GRCm38)		probably null	Het
Nfatc2ip	C	T	7: 126,384,992 (GRCm38)	V410I	probably damaging	Het
Nlrp1b	A	T	11: 71,182,138 (GRCm38)	I293N	probably damaging	Het
Olfr432	T	C	1: 174,050,678 (GRCm38)	Y102H	probably damaging	Het
Otol1	A	C	3: 70,028,104 (GRCm38)	E476D	probably benign	Het
Pcdhb4	C	T	18: 37,309,541 (GRCm38)	P635S	probably benign	Het
Pfkfb4	T	A	9: 108,999,169 (GRCm38)	F91I	probably damaging	Het
Polq	G	A	16: 37,062,304 (GRCm38)	R1610Q	possibly damaging	Het
Polr3c	A	T	3: 96,719,298 (GRCm38)	L270H	probably damaging	Het
Ppp1r15b	C	T	1: 133,131,625 (GRCm38)		probably benign	Het
Prkca	T	G	11: 108,192,149 (GRCm38)	D90A	probably benign	Het
Sall3	T	C	18: 80,969,753 (GRCm38)	D1156G	probably benign	Het
Scn7a	A	T	2: 66,676,102 (GRCm38)	L1481H	probably damaging	Het
Selenon	A	T	4: 134,544,618 (GRCm38)	I292N	probably damaging	Het
Sema6d	T	A	2: 124,659,886 (GRCm38)		probably null	Het
Sgpp1	G	T	12: 75,716,179 (GRCm38)	Y409*	probably null	Het
Slc25a13	A	G	6: 6,042,264 (GRCm38)	V638A	probably benign	Het
Snhg11	T	C	2: 158,376,826 (GRCm38)		probably benign	Het
Sorbs2	A	G	8: 45,796,352 (GRCm38)	Q800R	probably benign	Het
Srf	C	A	17: 46,549,986 (GRCm38)	G401C	probably damaging	Het
Stradb	A	C	1: 58,991,105 (GRCm38)	N173H	probably benign	Het
Swap70	C	T	7: 110,279,263 (GRCm38)	A480V	possibly damaging	Het
Sycp2	A	G	2: 178,381,957 (GRCm38)	V422A	probably damaging	Het
Taf4	G	A	2: 179,932,029 (GRCm38)	T682M	probably damaging	Het
Tet3	T	C	6: 83,404,379 (GRCm38)	N269S	possibly damaging	Het
Thap12	A	T	7: 98,716,838 (GRCm38)	I738F	possibly damaging	Het
Tiam2	C	T	17: 3,514,725 (GRCm38)	R1413C	possibly damaging	Het
Tmem229a	A	T	6: 24,955,011 (GRCm38)	F248Y	probably damaging	Het
Tmprss7	G	A	16: 45,684,593 (GRCm38)	Q145*	probably null	Het
Tnc	A	T	4: 63,993,025 (GRCm38)		probably null	Het
Tonsl	A	T	15: 76,624,597 (GRCm38)	Y21N	probably damaging	Het
Tpr	A	G	1: 150,421,663 (GRCm38)	D1009G	probably benign	Het
Trpm2	G	A	10: 77,941,158 (GRCm38)	A435V	probably damaging	Het
Ubr3	T	A	2: 69,953,476 (GRCm38)		probably null	Het
Vcan	T	C	13: 89,705,534 (GRCm38)	N436D	possibly damaging	Het
Vmn2r104	T	A	17: 20,040,769 (GRCm38)	Y464F	probably damaging	Het
Vmn2r44	T	A	7: 8,367,982 (GRCm38)	R688S	probably benign	Het
Wdr74	G	T	19: 8,737,947 (GRCm38)	V157L	probably benign	Het
Wnt7a	T	A	6: 91,394,548 (GRCm38)	D144V	probably benign	Het
Zfp106	C	T	2: 120,531,681 (GRCm38)	A986T	possibly damaging	Het

Other mutations in Sh3pxd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Sh3pxd2a	APN	19	47,314,155 (GRCm38)	missense	probably benign	0.20
IGL01606:Sh3pxd2a	APN	19	47,268,596 (GRCm38)	missense	probably benign
IGL02001:Sh3pxd2a	APN	19	47,273,447 (GRCm38)	missense	probably damaging	0.99
IGL02060:Sh3pxd2a	APN	19	47,373,378 (GRCm38)	splice site	probably benign
IGL02830:Sh3pxd2a	APN	19	47,283,078 (GRCm38)	missense	probably damaging	1.00
IGL03240:Sh3pxd2a	APN	19	47,268,026 (GRCm38)	missense	probably damaging	1.00
IGL03263:Sh3pxd2a	APN	19	47,314,043 (GRCm38)	missense	probably damaging	1.00
IGL03290:Sh3pxd2a	APN	19	47,424,516 (GRCm38)	missense	probably damaging	1.00
R0045:Sh3pxd2a	UTSW	19	47,267,183 (GRCm38)	missense	probably damaging	1.00
R0045:Sh3pxd2a	UTSW	19	47,267,183 (GRCm38)	missense	probably damaging	1.00
R0504:Sh3pxd2a	UTSW	19	47,267,747 (GRCm38)	missense	probably damaging	1.00
R0683:Sh3pxd2a	UTSW	19	47,267,511 (GRCm38)	missense	probably benign	0.04
R0726:Sh3pxd2a	UTSW	19	47,268,762 (GRCm38)	missense	probably damaging	1.00
R0883:Sh3pxd2a	UTSW	19	47,268,207 (GRCm38)	missense	probably damaging	1.00
R1276:Sh3pxd2a	UTSW	19	47,268,383 (GRCm38)	missense	probably benign
R1349:Sh3pxd2a	UTSW	19	47,267,721 (GRCm38)	missense	probably damaging	1.00
R1372:Sh3pxd2a	UTSW	19	47,267,721 (GRCm38)	missense	probably damaging	1.00
R1525:Sh3pxd2a	UTSW	19	47,278,425 (GRCm38)	missense	probably damaging	1.00
R1661:Sh3pxd2a	UTSW	19	47,278,320 (GRCm38)	missense	probably damaging	1.00
R1664:Sh3pxd2a	UTSW	19	47,268,382 (GRCm38)	missense	probably benign	0.02
R1766:Sh3pxd2a	UTSW	19	47,273,250 (GRCm38)	missense	probably benign	0.01
R1931:Sh3pxd2a	UTSW	19	47,267,508 (GRCm38)	missense	probably benign	0.00
R2024:Sh3pxd2a	UTSW	19	47,267,264 (GRCm38)	missense	probably benign	0.35
R2165:Sh3pxd2a	UTSW	19	47,278,355 (GRCm38)	missense	probably damaging	1.00
R2210:Sh3pxd2a	UTSW	19	47,267,343 (GRCm38)	missense	possibly damaging	0.93
R2567:Sh3pxd2a	UTSW	19	47,424,569 (GRCm38)	missense	possibly damaging	0.94
R4097:Sh3pxd2a	UTSW	19	47,424,512 (GRCm38)	missense	probably damaging	1.00
R4466:Sh3pxd2a	UTSW	19	47,364,707 (GRCm38)	missense	possibly damaging	0.61
R4788:Sh3pxd2a	UTSW	19	47,314,079 (GRCm38)	missense	probably damaging	1.00
R4885:Sh3pxd2a	UTSW	19	47,268,693 (GRCm38)	missense	probably damaging	1.00
R4939:Sh3pxd2a	UTSW	19	47,278,404 (GRCm38)	missense	probably damaging	1.00
R5184:Sh3pxd2a	UTSW	19	47,273,411 (GRCm38)	missense	possibly damaging	0.90
R5340:Sh3pxd2a	UTSW	19	47,268,231 (GRCm38)	missense	probably benign	0.36
R5673:Sh3pxd2a	UTSW	19	47,268,666 (GRCm38)	missense	probably damaging	1.00
R5925:Sh3pxd2a	UTSW	19	47,267,612 (GRCm38)	missense	probably damaging	1.00
R5988:Sh3pxd2a	UTSW	19	47,364,638 (GRCm38)	missense	probably benign	0.16
R6120:Sh3pxd2a	UTSW	19	47,267,409 (GRCm38)	missense	probably damaging	0.99
R6432:Sh3pxd2a	UTSW	19	47,269,927 (GRCm38)	missense	probably damaging	0.99
R6650:Sh3pxd2a	UTSW	19	47,268,224 (GRCm38)	missense	probably benign	0.00
R6700:Sh3pxd2a	UTSW	19	47,364,707 (GRCm38)	missense	possibly damaging	0.61
R6831:Sh3pxd2a	UTSW	19	47,283,093 (GRCm38)	missense	probably damaging	1.00
R7015:Sh3pxd2a	UTSW	19	47,268,123 (GRCm38)	missense	probably benign	0.00
R7225:Sh3pxd2a	UTSW	19	47,267,389 (GRCm38)	missense	probably damaging	1.00
R7449:Sh3pxd2a	UTSW	19	47,267,652 (GRCm38)	missense	probably benign
R7695:Sh3pxd2a	UTSW	19	47,267,831 (GRCm38)	missense	probably damaging	1.00
R7904:Sh3pxd2a	UTSW	19	47,320,314 (GRCm38)	missense	possibly damaging	0.54
R8143:Sh3pxd2a	UTSW	19	47,268,699 (GRCm38)	missense	probably damaging	1.00
R8268:Sh3pxd2a	UTSW	19	47,267,594 (GRCm38)	missense	probably benign
R8290:Sh3pxd2a	UTSW	19	47,314,136 (GRCm38)	missense	probably damaging	1.00
R8350:Sh3pxd2a	UTSW	19	47,269,838 (GRCm38)	missense	probably null	0.72
R8350:Sh3pxd2a	UTSW	19	47,268,707 (GRCm38)	missense	probably damaging	1.00
R8742:Sh3pxd2a	UTSW	19	47,286,634 (GRCm38)	missense	probably benign	0.01
R8767:Sh3pxd2a	UTSW	19	47,268,906 (GRCm38)	missense	probably damaging	1.00
R8948:Sh3pxd2a	UTSW	19	47,373,443 (GRCm38)	missense	probably damaging	1.00
R9357:Sh3pxd2a	UTSW	19	47,272,009 (GRCm38)	missense	probably damaging	1.00
R9433:Sh3pxd2a	UTSW	19	47,267,100 (GRCm38)	missense	probably damaging	0.98
R9515:Sh3pxd2a	UTSW	19	47,267,171 (GRCm38)	missense	probably damaging	1.00
R9748:Sh3pxd2a	UTSW	19	47,268,654 (GRCm38)	missense	probably benign
V3553:Sh3pxd2a	UTSW	19	47,267,219 (GRCm38)	missense	probably benign	0.12
X0013:Sh3pxd2a	UTSW	19	47,267,864 (GRCm38)	missense	probably benign	0.01
X0026:Sh3pxd2a	UTSW	19	47,464,150 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTCTCTATGGGCTTGGGAC -3'
(R):5'- CCTGACACAGCTAGCAAAGAGG -3'

Sequencing Primer
(F):5'- AGACAGGGATGCCTTTGC -3'
(R):5'- CACAGCTAGCAAAGAGGGAGAC -3'

Posted On

2014-07-14