Mutagenetix > Incidental Mutation

Incidental Mutation 'R7904:Sh3pxd2a'

610202

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2a

Ensembl Gene

ENSMUSG00000053617

Gene Name

SH3 and PX domains 2A

Synonyms

2310014D11Rik, Fish, Tks5, Sh3md1

MMRRC Submission

045956-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47248613-47452840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47308753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 145 (L145S)

Ref Sequence

ENSEMBL: ENSMUSP00000080325 (fasta)

Gene Model

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

AlphaFold

O89032

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081619
AA Change: L145S

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: L145S

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: L145S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: L145S

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,567,591 (GRCm39)	T384I	probably benign	Het
Astn1	T	C	1: 158,424,886 (GRCm39)	F691L	probably benign	Het
Azgp1	A	G	5: 137,985,869 (GRCm39)	E164G	probably damaging	Het
Bdp1	A	G	13: 100,177,944 (GRCm39)	V1975A	probably benign	Het
Cactin	T	C	10: 81,161,699 (GRCm39)	Y744H	possibly damaging	Het
Clstn1	T	A	4: 149,698,594 (GRCm39)	I60N	probably benign	Het
Col16a1	T	A	4: 129,948,001 (GRCm39)	C240*	probably null	Het
Col6a5	T	C	9: 105,805,720 (GRCm39)	D1062G	unknown	Het
Csmd2	T	C	4: 128,313,346 (GRCm39)	L1341P		Het
Cyp51	A	T	5: 4,150,173 (GRCm39)	F183L	probably damaging	Het
Dbnl	T	A	11: 5,741,779 (GRCm39)		probably null	Het
Ddx60	G	A	8: 62,430,924 (GRCm39)	V820I	possibly damaging	Het
Dnaaf9	A	T	2: 130,633,923 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,867,003 (GRCm39)	D4046V	possibly damaging	Het
Dnah6	G	A	6: 73,112,450 (GRCm39)		probably null	Het
Dnttip1	A	G	2: 164,589,472 (GRCm39)	Y89C	probably benign	Het
Efr3a	T	A	15: 65,696,527 (GRCm39)	V144E	probably damaging	Het
Epha8	T	C	4: 136,659,050 (GRCm39)	Q868R	possibly damaging	Het
Ercc5	G	T	1: 44,214,998 (GRCm39)		probably null	Het
Fam118a	A	G	15: 84,929,834 (GRCm39)	S21G	probably damaging	Het
Fam171b	T	C	2: 83,683,849 (GRCm39)	I122T	probably damaging	Het
Fat4	T	A	3: 38,941,690 (GRCm39)	S194R	probably damaging	Het
Fcho2	T	A	13: 98,932,871 (GRCm39)	T44S	possibly damaging	Het
Gm21698	C	A	5: 26,189,256 (GRCm39)	L232F	probably benign	Het
Gpr149	T	A	3: 62,502,356 (GRCm39)	D500V	probably benign	Het
Gpx8	T	A	13: 113,182,035 (GRCm39)	T133S	probably benign	Het
Hdlbp	A	T	1: 93,351,092 (GRCm39)	I542N	probably damaging	Het
Hid1	G	A	11: 115,246,187 (GRCm39)	S361F	probably damaging	Het
Igdcc4	C	A	9: 65,041,801 (GRCm39)	A1076E	probably benign	Het
Il4ra	A	G	7: 125,164,845 (GRCm39)	K7E	probably benign	Het
Inka2	T	C	3: 105,623,730 (GRCm39)	C35R	probably damaging	Het
Itga9	G	T	9: 118,706,294 (GRCm39)		probably null	Het
Kif5c	T	C	2: 49,591,095 (GRCm39)	S316P	probably damaging	Het
Kmt5c	A	T	7: 4,749,158 (GRCm39)	T264S	probably damaging	Het
Litafd	A	G	16: 8,501,681 (GRCm39)	H61R		Het
Lrrc18	A	G	14: 32,731,052 (GRCm39)	N197S	probably benign	Het
Mcoln1	C	A	8: 3,558,356 (GRCm39)	D203E	probably benign	Het
Mitf	T	C	6: 97,990,671 (GRCm39)	V358A	probably damaging	Het
Mki67	A	T	7: 135,294,816 (GRCm39)	L3161Q	possibly damaging	Het
Mmp20	T	A	9: 7,644,076 (GRCm39)	F255I	possibly damaging	Het
Muc16	T	C	9: 18,566,946 (GRCm39)	T1858A	unknown	Het
Mug1	G	A	6: 121,828,424 (GRCm39)	V279I	probably benign	Het
Or6c68	T	C	10: 129,157,665 (GRCm39)	Y58H	probably damaging	Het
Otulin	G	T	15: 27,630,580 (GRCm39)	A39E	probably benign	Het
Pcdh17	A	T	14: 84,685,924 (GRCm39)	D797V	possibly damaging	Het
Pdlim5	G	A	3: 142,018,154 (GRCm39)	S147L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Ppp2r1a	T	G	17: 21,182,003 (GRCm39)		probably null	Het
Ranbp6	T	C	19: 29,789,813 (GRCm39)	I180V	probably benign	Het
Rbm27	G	T	18: 42,465,921 (GRCm39)	R869L	probably damaging	Het
Rtn4r	A	G	16: 17,969,349 (GRCm39)	D259G	probably benign	Het
Ryr3	T	C	2: 112,611,369 (GRCm39)	E2271G	probably damaging	Het
Sbk1	A	G	7: 125,891,208 (GRCm39)	Y214C	probably damaging	Het
Scg3	C	T	9: 75,551,149 (GRCm39)	E459K	probably damaging	Het
Scin	T	G	12: 40,126,999 (GRCm39)	E449D	probably damaging	Het
Sel1l3	T	C	5: 53,297,166 (GRCm39)	K760R	probably benign	Het
Sh3yl1	A	G	12: 30,991,995 (GRCm39)	D188G	probably benign	Het
Slc38a1	A	T	15: 96,521,921 (GRCm39)	L13Q	possibly damaging	Het
Smyd4	T	C	11: 75,240,613 (GRCm39)	I36T	possibly damaging	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Stab2	A	T	10: 86,790,056 (GRCm39)	L570*	probably null	Het
Tg	G	T	15: 66,577,128 (GRCm39)	A1484S	probably benign	Het
Tm7sf2	A	T	19: 6,118,942 (GRCm39)	N677K	probably damaging	Het
Tmem235	T	G	11: 117,751,717 (GRCm39)	L47R	probably damaging	Het
Tmem87a	A	G	2: 120,210,198 (GRCm39)	S252P	probably damaging	Het
Unc13b	A	G	4: 43,217,075 (GRCm39)	D458G	probably benign	Het
Wfdc1	A	G	8: 120,406,770 (GRCm39)		probably null	Het
Wnt16	A	G	6: 22,297,989 (GRCm39)	Y285C	probably damaging	Het
Wwc2	A	T	8: 48,309,270 (GRCm39)	N837K	unknown	Het
Xdh	A	G	17: 74,229,467 (GRCm39)	F329L	probably benign	Het
Yaf2	G	T	15: 93,183,466 (GRCm39)	H115N	probably benign	Het
Zbtb16	G	T	9: 48,744,272 (GRCm39)	N13K	probably damaging	Het
Zfhx3	A	T	8: 109,677,695 (GRCm39)	D2915V	probably damaging	Het
Zfp236	A	T	18: 82,627,507 (GRCm39)	V1564E	possibly damaging	Het
Zfp407	G	T	18: 84,579,381 (GRCm39)	H577Q	not run	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
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
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'- TGGCTCATCTGAGGATGGTAAAGG -3'
(R):5'- TGTAATCATACAGGCCCACGC -3'

Sequencing Primer
(F):5'- CATCTGAGGATGGTAAAGGGCTCTC -3'
(R):5'- GCCCAGCAGTCATCCCCAG -3'

Posted On

2019-12-20