Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4469001:Spata32'

555833

Institutional Source

Beutler Lab

Gene Symbol

Spata32

Ensembl Gene

ENSMUSG00000044787

Gene Name

spermatogenesis associated 32

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

PIT4469001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103208127-103218432 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103209827 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 38 (N38S)

Ref Sequence

ENSEMBL: ENSMUSP00000099365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000103076] [ENSMUST00000107026] [ENSMUST00000172850] [ENSMUST00000174567]

Predicted Effect

probably benign
Transcript: ENSMUST00000021323

SMART Domains

Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	109	137	7.23e1	SMART
EFh	145	173	6.68e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103076
AA Change: N38S

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099365
Gene: ENSMUSG00000044787
AA Change: N38S

Domain	Start	End	E-Value	Type
low complexity region	25	48	N/A	INTRINSIC
Pfam:VAD1-2	106	332	3e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107026

SMART Domains

Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	40	68	7.23e1	SMART
EFh	76	104	6.68e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172850

SMART Domains

Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	109	137	3.5e-1	SMART
EFh	145	173	3.2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174567

SMART Domains

Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	153	209	5e-8	SMART
Blast:EFh	159	187	4e-12	BLAST

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 84.4%
20x: 71.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030408B16Rik	T	C	15: 101,293,271	V6A	probably benign	Het
A630001G21Rik	A	G	1: 85,725,199	F83L	probably benign	Het
Acsm2	T	A	7: 119,578,185	C308S	possibly damaging	Het
Ak3	A	G	19: 29,047,757	S25P	probably damaging	Het
Atp13a2	T	A	4: 140,994,127	V176E	unknown	Het
Bmper	A	T	9: 23,406,549	H488L	probably benign	Het
Cacna1c	A	T	6: 118,595,972	C2084S	unknown	Het
Ccp110	T	A	7: 118,722,377	N418K	probably benign	Het
Ddx17	C	A	15: 79,543,813	G32C	probably damaging	Het
Dusp16	G	A	6: 134,761,152		probably benign	Het
Efl1	T	G	7: 82,658,165	F90V	probably benign	Het
Ell2	T	A	13: 75,761,892	N252K	probably damaging	Het
Gdf6	T	C	4: 9,859,569	V217A	probably damaging	Het
Gm6205	T	A	5: 94,682,793	V50E	probably damaging	Het
Hint1	T	A	11: 54,870,070	S112T	unknown	Het
Hist1h1e	A	T	13: 23,622,379	V40E	probably damaging	Het
Kif5c	T	C	2: 49,741,348	V679A	probably benign	Het
Lrrn3	A	T	12: 41,453,018	D433E	probably benign	Het
Mast4	G	A	13: 102,804,718	T277M	probably damaging	Het
Naa11	A	G	5: 97,391,626		probably null	Het
Pcdh18	T	A	3: 49,755,069	H599L	probably benign	Het
Pgc	A	T	17: 47,728,755	K25*	probably null	Het
Psd4	G	A	2: 24,394,294	D57N	probably benign	Het
Pxdn	G	A	12: 30,005,829	R1238Q	probably benign	Het
St5	G	A	7: 109,531,130	A888V	probably damaging	Het
Tpr	A	G	1: 150,403,956	T279A	probably benign	Het
Unc13a	C	A	8: 71,658,314	E418*	probably null	Het
Vmn2r97	C	A	17: 18,929,616	T422K	probably benign	Het
Zfp474	A	T	18: 52,638,719	Q148L	possibly damaging	Het

Other mutations in Spata32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02422:Spata32	APN	11	103208880	missense	probably benign	0.38
IGL02712:Spata32	APN	11	103208147	intron	probably benign
IGL02966:Spata32	APN	11	103208803	missense	possibly damaging	0.89
IGL03178:Spata32	APN	11	103210762	missense	probably benign
R0245:Spata32	UTSW	11	103209095	missense	probably damaging	0.99
R0454:Spata32	UTSW	11	103209299	missense	probably damaging	1.00
R1773:Spata32	UTSW	11	103208818	missense	probably damaging	1.00
R1881:Spata32	UTSW	11	103210735	unclassified	probably benign
R3545:Spata32	UTSW	11	103210744	missense	possibly damaging	0.67
R5485:Spata32	UTSW	11	103209296	missense	probably damaging	0.96
R5576:Spata32	UTSW	11	103209827	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TAGCTCTGGGTCCACTTTGG -3'
(R):5'- TGCTCCAGGGTTCTTAATGG -3'

Sequencing Primer
(F):5'- GGTAACTCTGCTTCTACCTGAAAGG -3'
(R):5'- TGGAACAGAGGCAGTGGG -3'

Posted On

2019-06-07