Mutagenetix > Incidental Mutation

Incidental Mutation 'R1276:Sh3pxd2a'

150917

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2a

Ensembl Gene

ENSMUSG00000053617

Gene Name

SH3 and PX domains 2A

Synonyms

2310014D11Rik, Fish, Tks5, Sh3md1

MMRRC Submission

039342-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47248613-47452840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47256822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 632 (D632G)

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: D660G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: D660G

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: D632G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: D632G

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: 99.0%
3x: 98.3%
10x: 96.2%
20x: 92.4%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	C	A	8: 27,609,852 (GRCm39)	A660D	probably damaging	Het
Ccdc82	A	T	9: 13,281,903 (GRCm39)	I443F	probably benign	Het
Cct4	C	T	11: 22,952,171 (GRCm39)	L391F	probably damaging	Het
Cep63	A	T	9: 102,466,099 (GRCm39)	D642E	possibly damaging	Het
Chd5	T	A	4: 152,463,191 (GRCm39)	L1424Q	probably damaging	Het
Cox4i1	A	G	8: 121,400,089 (GRCm39)	Y71C	probably damaging	Het
Cyp2c69	T	A	19: 39,864,668 (GRCm39)	Q270L	possibly damaging	Het
Egln2	TTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTG	7: 26,864,430 (GRCm39)		probably benign	Het
Fbln1	A	G	15: 85,113,791 (GRCm39)	D175G	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gm9847	A	G	12: 14,544,932 (GRCm39)		noncoding transcript	Het
Hdlbp	A	T	1: 93,348,823 (GRCm39)	S576T	probably benign	Het
Hmgxb3	T	C	18: 61,298,576 (GRCm39)	N296S	probably benign	Het
Lrba	T	A	3: 86,571,833 (GRCm39)	V2379E	probably damaging	Het
Lrp1b	A	T	2: 41,618,588 (GRCm39)	I162N	probably benign	Het
Mydgf	A	G	17: 56,486,362 (GRCm39)		probably null	Het
Ska3	T	C	14: 58,057,726 (GRCm39)	M209V	probably damaging	Het
Slc4a10	A	G	2: 62,080,787 (GRCm39)	E308G	probably damaging	Het
Srsf4	C	T	4: 131,624,996 (GRCm39)	T131M	probably damaging	Het
Suco	A	T	1: 161,685,025 (GRCm39)	S156T	probably benign	Het
Svs5	T	A	2: 164,079,168 (GRCm39)	Q246H	possibly damaging	Het
Syne2	A	G	12: 75,987,963 (GRCm39)		probably null	Het
Tbc1d9b	T	A	11: 50,043,476 (GRCm39)	H532Q	possibly damaging	Het
Tcf21	G	A	10: 22,695,489 (GRCm39)	T105I	probably damaging	Het
Thsd7a	C	A	6: 12,418,369 (GRCm39)	C620F	probably damaging	Het
Vmn1r194	A	G	13: 22,429,031 (GRCm39)	Y216C	probably damaging	Het
Vmn2r94	T	C	17: 18,477,344 (GRCm39)	S356G	possibly damaging	Het
Wasf1	T	A	10: 40,812,522 (GRCm39)	I437N	unknown	Het
Wdr24	A	G	17: 26,046,441 (GRCm39)	Y538C	probably benign	Het
Zbtb4	G	T	11: 69,667,045 (GRCm39)	D117Y	probably damaging	Het
Zfp654	A	T	16: 64,605,699 (GRCm39)	F293L	probably damaging	Het
Zkscan7	A	G	9: 122,719,788 (GRCm39)	E158G	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
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'- TGAGGCAGAACGTGGTTTCAGG -3'
(R):5'- CAGAGGTTCAGGTGACAAGCATCC -3'

Sequencing Primer
(F):5'- AGAACGTGGTTTCAGGTCACC -3'
(R):5'- AAGGATCTCGCCTGCCTC -3'

Posted On

2014-01-29