Mutagenetix > Incidental Mutations

Incidental Mutation 'R7225:Sh3pxd2a'

562129

Institutional Source

Beutler Lab

Gene Symbol

Sh3pxd2a

Ensembl Gene

ENSMUSG00000053617

Gene Name

SH3 and PX domains 2A

Synonyms

Tks5, Fish, Sh3md1, 2310014D11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47260174-47464411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47267389 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 991 (N991K)

Ref Sequence

ENSEMBL: ENSMUSP00000080325 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000081619
AA Change: N991K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: N991K

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: N963K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: N963K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634	A83T	not run	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Sox13	A	T	1: 133,387,124	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	probably benign	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
R5988:Sh3pxd2a	UTSW	19	47364638	missense	probably benign	0.16
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
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
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'- AAACTGGGACTTCTCTATGGGC -3'
(R):5'- GCTCAACACTGTGAACCAGAG -3'

Sequencing Primer
(F):5'- TCTATGGGCTTGGGACGCAC -3'
(R):5'- CCAGAGCAAGAGGGCCAC -3'

Posted On

2019-06-26