Mutagenetix > Incidental Mutation

Incidental Mutation 'R5988:Sh3pxd2a'

481882

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2a

Ensembl Gene

ENSMUSG00000053617

Gene Name

SH3 and PX domains 2A

Synonyms

Tks5, Fish, Sh3md1, 2310014D11Rik

MMRRC Submission

044168-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47260174-47464411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47364638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 128 (V128A)

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: V128A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: V128A

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: V128A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: V128A

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: 99.8%
3x: 99.1%
10x: 95.3%
20x: 84.3%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,377,217	M441K	probably damaging	Het
Actr8	T	A	14: 29,993,073	M615K	possibly damaging	Het
Acvr1c	A	T	2: 58,315,874	C25S	probably damaging	Het
Adk	A	T	14: 21,423,548	E291V	probably benign	Het
Ahnak	C	A	19: 9,009,347		probably benign	Het
Alg11	A	G	8: 22,062,028	T63A	probably benign	Het
Alox12	A	T	11: 70,251,587	S272T	probably benign	Het
Armc10	T	A	5: 21,660,583	S195T	probably damaging	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Baat	G	A	4: 49,502,871	P84S	probably damaging	Het
BB014433	G	A	8: 15,041,854	T333I	probably damaging	Het
BC035947	G	A	1: 78,499,206	R230*	probably null	Het
Bcr	G	A	10: 75,175,335	G26E	probably benign	Het
Ccdc88b	T	C	19: 6,855,980	E233G	probably damaging	Het
Cep295	A	G	9: 15,341,474	F353L	probably damaging	Het
Chd8	T	C	14: 52,217,938	M1031V	probably damaging	Het
Col17a1	C	G	19: 47,654,220	G885R	probably damaging	Het
Cyp11a1	A	C	9: 58,020,834	I214L	probably benign	Het
Cyp3a44	A	T	5: 145,794,918	S139R	probably damaging	Het
Ddhd2	G	A	8: 25,748,562	R64C	probably damaging	Het
Dll3	A	G	7: 28,294,112	W561R	probably damaging	Het
Dnajc3	T	C	14: 118,957,964	V97A	possibly damaging	Het
Drosha	C	T	15: 12,834,496		probably benign	Het
E2f8	T	C	7: 48,874,995	D302G	probably damaging	Het
Ecd	C	G	14: 20,324,561	D504H	probably damaging	Het
Eif4g2	C	A	7: 111,077,230	V331L	probably benign	Het
Fam124a	T	C	14: 62,587,537	I160T	possibly damaging	Het
Fat1	A	G	8: 45,029,456	T3051A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm5039	T	A	12: 88,321,432	N17I	unknown	Het
Gm572	A	G	4: 148,668,507	E281G	possibly damaging	Het
Gm884	T	C	11: 103,615,896		probably benign	Het
Gm9944	T	C	4: 144,453,205		probably benign	Het
Gstm5	A	C	3: 107,895,954	M1L	probably benign	Het
Havcr1	A	G	11: 46,756,137	T133A	probably damaging	Het
Hey1	T	G	3: 8,666,319	S68R	probably damaging	Het
Hsf2bp	C	T	17: 32,011,175		probably null	Het
Id2	T	C	12: 25,095,724	N96S	probably benign	Het
Ifi206	A	C	1: 173,481,340	S363R	possibly damaging	Het
Il21r	T	C	7: 125,632,288	F296S	probably damaging	Het
Irgm2	A	G	11: 58,220,187	T247A	probably benign	Het
Irx5	T	A	8: 92,360,671	Y410*	probably null	Het
Kmt2c	A	G	5: 25,311,120	I2575T	probably benign	Het
Lmbrd2	T	A	15: 9,182,406		probably null	Het
Lrig1	A	C	6: 94,628,042	S191A	probably damaging	Het
Lypd6b	T	A	2: 49,946,166	C120S	probably damaging	Het
Mpdz	A	G	4: 81,284,575		probably null	Het
Myh6	G	T	14: 54,965,394	R23S	probably damaging	Het
Nat8f6	C	T	6: 85,809,058	M36I	probably benign	Het
Nol8	T	A	13: 49,672,614	M970K	possibly damaging	Het
Nrxn2	T	C	19: 6,492,871	F1042L	possibly damaging	Het
Nup160	T	C	2: 90,689,209	W277R	probably damaging	Het
Ogfr	A	T	2: 180,594,233	T204S	probably damaging	Het
Olfr136	T	C	17: 38,336,020	F288L	probably damaging	Het
Olfr16	T	A	1: 172,957,156	Y120*	probably null	Het
Olfr356	A	G	2: 36,937,224	Y35C	probably damaging	Het
Olfr59	T	C	11: 74,288,853	V69A	probably benign	Het
Olfr667	A	T	7: 104,916,918	V126E	probably damaging	Het
Olfr898	T	C	9: 38,349,749	V222A	probably benign	Het
Pcdh15	A	G	10: 74,379,357	I648V	probably benign	Het
Pced1b	T	A	15: 97,384,347	V89E	probably damaging	Het
Phax	G	T	18: 56,575,492	A43S	probably benign	Het
Phf20	A	G	2: 156,307,330	E976G	probably damaging	Het
Plin4	T	C	17: 56,109,567	T8A	probably benign	Het
Plxna1	G	A	6: 89,357,540	Q36*	probably null	Het
Pold1	T	C	7: 44,540,580	Y394C	probably damaging	Het
Ppp1r26	T	A	2: 28,452,554	V732E	probably benign	Het
Pramel5	A	T	4: 144,273,146	C124S	possibly damaging	Het
Prr14l	C	A	5: 32,830,851	L433F	probably damaging	Het
Ptpn14	A	G	1: 189,850,387	Y477C	probably damaging	Het
Rcl1	T	A	19: 29,121,767	I154N	probably damaging	Het
Rfpl4	T	C	7: 5,115,502	Y23C	probably damaging	Het
Rims1	T	C	1: 22,596,463	K146E	probably damaging	Het
Rims2	A	T	15: 39,292,182	K126M	probably damaging	Het
Rpusd4	T	A	9: 35,272,520		probably null	Het
Scn7a	C	T	2: 66,726,214	W342*	probably null	Het
Slc15a5	T	C	6: 138,043,531	H268R	probably benign	Het
Slc22a3	T	C	17: 12,433,895	I321V	possibly damaging	Het
Slc7a6os	A	G	8: 106,202,333	S231P	probably benign	Het
Smad5	T	C	13: 56,735,985	S395P	probably damaging	Het
Sorbs3	G	A	14: 70,203,303	T20I	probably benign	Het
Spata9	A	G	13: 75,968,117	I42V	probably benign	Het
Srl	C	T	16: 4,523,028	C9Y	unknown	Het
Sugp2	T	C	8: 70,243,225	F283L	probably benign	Het
Syne2	T	C	12: 75,929,417		probably null	Het
Taar6	A	G	10: 23,985,256	Y131H	probably damaging	Het
Tango2	T	C	16: 18,302,690	T137A	probably damaging	Het
Tas2r106	T	A	6: 131,678,643	I82L	probably benign	Het
Tbc1d32	T	C	10: 56,088,337	E922G	probably damaging	Het
Tgfb2	G	T	1: 186,704,581	P65Q	probably benign	Het
Tjp2	T	G	19: 24,114,100	I566L	probably benign	Het
Tnrc6a	T	A	7: 123,182,380	N1424K	probably damaging	Het
Trim7	A	T	11: 48,837,686	M54L	probably benign	Het
Trpm1	T	A	7: 64,226,805	S535R	probably benign	Het
Tsc2	T	A	17: 24,620,766	N417I	probably damaging	Het
Ttn	T	C	2: 76,969,788	R359G	probably benign	Het
Vim	A	G	2: 13,582,485	T458A	probably benign	Het
Vps11	A	T	9: 44,353,924	S612R	probably benign	Het
Wdfy3	A	G	5: 101,884,138	S2273P	probably benign	Het
Wwox	G	T	8: 114,706,341	R249L	probably benign	Het
Zbtb4	G	T	11: 69,778,964	G838C	probably damaging	Het
Zkscan3	A	T	13: 21,396,291	C76S	probably damaging	Het
Znrf3	C	T	11: 5,281,776	C483Y	probably damaging	Het
Zscan2	A	G	7: 80,876,199	K556R	possibly damaging	Het

Other mutations in Sh3pxd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Sh3pxd2a	APN	19	47314155	missense	probably benign	0.20
IGL01606:Sh3pxd2a	APN	19	47268596	missense	probably benign
IGL02001:Sh3pxd2a	APN	19	47273447	missense	probably damaging	0.99
IGL02060:Sh3pxd2a	APN	19	47373378	splice site	probably benign
IGL02830:Sh3pxd2a	APN	19	47283078	missense	probably damaging	1.00
IGL03240:Sh3pxd2a	APN	19	47268026	missense	probably damaging	1.00
IGL03263:Sh3pxd2a	APN	19	47314043	missense	probably damaging	1.00
IGL03290:Sh3pxd2a	APN	19	47424516	missense	probably damaging	1.00
R0045:Sh3pxd2a	UTSW	19	47267183	missense	probably damaging	1.00
R0045:Sh3pxd2a	UTSW	19	47267183	missense	probably damaging	1.00
R0504:Sh3pxd2a	UTSW	19	47267747	missense	probably damaging	1.00
R0683:Sh3pxd2a	UTSW	19	47267511	missense	probably benign	0.04
R0726:Sh3pxd2a	UTSW	19	47268762	missense	probably damaging	1.00
R0883:Sh3pxd2a	UTSW	19	47268207	missense	probably damaging	1.00
R1276:Sh3pxd2a	UTSW	19	47268383	missense	probably benign
R1349:Sh3pxd2a	UTSW	19	47267721	missense	probably damaging	1.00
R1372:Sh3pxd2a	UTSW	19	47267721	missense	probably damaging	1.00
R1525:Sh3pxd2a	UTSW	19	47278425	missense	probably damaging	1.00
R1661:Sh3pxd2a	UTSW	19	47278320	missense	probably damaging	1.00
R1664:Sh3pxd2a	UTSW	19	47268382	missense	probably benign	0.02
R1766:Sh3pxd2a	UTSW	19	47273250	missense	probably benign	0.01
R1931:Sh3pxd2a	UTSW	19	47267508	missense	probably benign	0.00
R1932:Sh3pxd2a	UTSW	19	47267508	missense	probably benign	0.00
R2024:Sh3pxd2a	UTSW	19	47267264	missense	probably benign	0.35
R2165:Sh3pxd2a	UTSW	19	47278355	missense	probably damaging	1.00
R2210:Sh3pxd2a	UTSW	19	47267343	missense	possibly damaging	0.93
R2567:Sh3pxd2a	UTSW	19	47424569	missense	possibly damaging	0.94
R4097:Sh3pxd2a	UTSW	19	47424512	missense	probably damaging	1.00
R4466:Sh3pxd2a	UTSW	19	47364707	missense	possibly damaging	0.61
R4788:Sh3pxd2a	UTSW	19	47314079	missense	probably damaging	1.00
R4885:Sh3pxd2a	UTSW	19	47268693	missense	probably damaging	1.00
R4939:Sh3pxd2a	UTSW	19	47278404	missense	probably damaging	1.00
R5184:Sh3pxd2a	UTSW	19	47273411	missense	possibly damaging	0.90
R5340:Sh3pxd2a	UTSW	19	47268231	missense	probably benign	0.36
R5673:Sh3pxd2a	UTSW	19	47268666	missense	probably damaging	1.00
R5925:Sh3pxd2a	UTSW	19	47267612	missense	probably damaging	1.00
R6120:Sh3pxd2a	UTSW	19	47267409	missense	probably damaging	0.99
R6432:Sh3pxd2a	UTSW	19	47269927	missense	probably damaging	0.99
R6650:Sh3pxd2a	UTSW	19	47268224	missense	probably benign	0.00
R6700:Sh3pxd2a	UTSW	19	47364707	missense	possibly damaging	0.61
R6831:Sh3pxd2a	UTSW	19	47283093	missense	probably damaging	1.00
R7015:Sh3pxd2a	UTSW	19	47268123	missense	probably benign	0.00
R7225:Sh3pxd2a	UTSW	19	47267389	missense	probably damaging	1.00
R7449:Sh3pxd2a	UTSW	19	47267652	missense	probably benign
R7695:Sh3pxd2a	UTSW	19	47267831	missense	probably damaging	1.00
R7904:Sh3pxd2a	UTSW	19	47320314	missense	possibly damaging	0.54
R8143:Sh3pxd2a	UTSW	19	47268699	missense	probably damaging	1.00
R8268:Sh3pxd2a	UTSW	19	47267594	missense	probably benign
R8290:Sh3pxd2a	UTSW	19	47314136	missense	probably damaging	1.00
R8350:Sh3pxd2a	UTSW	19	47268707	missense	probably damaging	1.00
R8350:Sh3pxd2a	UTSW	19	47269838	missense	probably null	0.72
R8742:Sh3pxd2a	UTSW	19	47286634	missense	probably benign	0.01
R8767:Sh3pxd2a	UTSW	19	47268906	missense	probably damaging	1.00
R8948:Sh3pxd2a	UTSW	19	47373443	missense	probably damaging	1.00
R9357:Sh3pxd2a	UTSW	19	47272009	missense	probably damaging	1.00
R9433:Sh3pxd2a	UTSW	19	47267100	missense	probably damaging	0.98
R9515:Sh3pxd2a	UTSW	19	47267171	missense	probably damaging	1.00
R9748:Sh3pxd2a	UTSW	19	47268654	missense	probably benign
V3553:Sh3pxd2a	UTSW	19	47267219	missense	probably benign	0.12
X0013:Sh3pxd2a	UTSW	19	47267864	missense	probably benign	0.01
X0026:Sh3pxd2a	UTSW	19	47464150	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAGGGACACTGACTGCTCC -3'
(R):5'- GGCATAGTGCTTAAAGACCAACAC -3'

Sequencing Primer
(F):5'- GCTTATATGCCTGCTGACGATAG -3'
(R):5'- TAGTGCTTAAAGACCAACACTCCCC -3'

Posted On

2017-06-26