Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02422:Spata32'

292721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata32

Ensembl Gene

ENSMUSG00000044787

Gene Name

spermatogenesis associated 32

Synonyms

4933400C05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL02422

Quality Score

Status

Chromosome

Chromosomal Location

103098953-103109258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103099706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 266 (N266K)

Ref Sequence

ENSEMBL: ENSMUSP00000099365 (fasta)

Gene Model

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

AlphaFold

Q8C5V0

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: N266K

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099365
Gene: ENSMUSG00000044787
AA Change: N266K

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

noncoding transcript
Transcript: ENSMUST00000140559

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,013,821 (GRCm39)		noncoding transcript	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Aak1	A	T	6: 86,959,598 (GRCm39)	T846S	unknown	Het
Adgrl1	A	G	8: 84,664,115 (GRCm39)	D1149G	probably damaging	Het
AI661453	C	T	17: 47,778,017 (GRCm39)		probably benign	Het
Ap4b1	T	C	3: 103,720,170 (GRCm39)	V139A	possibly damaging	Het
Arhgef16	G	A	4: 154,371,522 (GRCm39)	R224*	probably null	Het
Ash1l	T	A	3: 88,976,386 (GRCm39)		probably null	Het
Atm	A	T	9: 53,412,092 (GRCm39)	V988D	probably damaging	Het
C3	T	C	17: 57,533,823 (GRCm39)	E47G	probably damaging	Het
Cdkn2aip	G	A	8: 48,164,534 (GRCm39)	S393L	probably damaging	Het
Cep20	T	G	16: 14,118,070 (GRCm39)	D150A	probably benign	Het
Cyp2c68	A	C	19: 39,722,896 (GRCm39)	N217K	probably damaging	Het
Dapp1	A	T	3: 137,667,260 (GRCm39)	S101T	probably benign	Het
Ddx25	T	C	9: 35,462,660 (GRCm39)	I242V	probably null	Het
Dpy19l4	T	C	4: 11,265,803 (GRCm39)	N715S	possibly damaging	Het
Dync1h1	A	G	12: 110,606,644 (GRCm39)	E2511G	possibly damaging	Het
Gm9839	T	A	1: 32,558,943 (GRCm39)		probably benign	Het
Grn	A	G	11: 102,327,084 (GRCm39)		probably benign	Het
Haus5	T	C	7: 30,359,571 (GRCm39)	T196A	possibly damaging	Het
Ik	A	G	18: 36,886,313 (GRCm39)		probably null	Het
Inpp5d	T	G	1: 87,635,854 (GRCm39)	F473C	probably damaging	Het
Kif19a	C	A	11: 114,680,187 (GRCm39)	S841R	probably damaging	Het
Lipn	G	A	19: 34,046,063 (GRCm39)	C12Y	probably benign	Het
Ltbp4	G	T	7: 27,019,097 (GRCm39)	P1074Q	probably damaging	Het
Mfap2	T	C	4: 140,741,535 (GRCm39)	S65P	probably benign	Het
Mtbp	T	C	15: 55,426,439 (GRCm39)	F127S	possibly damaging	Het
Or8k37	A	G	2: 86,469,560 (GRCm39)	F164S	probably damaging	Het
Pappa2	T	C	1: 158,764,503 (GRCm39)	D336G	probably damaging	Het
Plekhh2	A	G	17: 84,871,237 (GRCm39)		probably benign	Het
Plekhm3	A	T	1: 64,961,025 (GRCm39)	C410*	probably null	Het
Ppm1f	T	A	16: 16,735,580 (GRCm39)	H265Q	probably damaging	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Rasal3	T	C	17: 32,617,947 (GRCm39)	T207A	probably benign	Het
Rnf17	T	A	14: 56,719,592 (GRCm39)	N947K	probably damaging	Het
Rpl3l	C	A	17: 24,952,962 (GRCm39)	Y307*	probably null	Het
Sema4d	A	G	13: 51,857,124 (GRCm39)	S703P	probably benign	Het
Slc12a7	T	C	13: 73,954,280 (GRCm39)	M857T	probably benign	Het
Slc34a3	T	C	2: 25,122,275 (GRCm39)	D110G	probably benign	Het
Spata9	A	G	13: 76,141,193 (GRCm39)	I147V	probably benign	Het
Supt16	T	C	14: 52,417,000 (GRCm39)	Y326C	possibly damaging	Het
Tpx2	T	C	2: 152,715,064 (GRCm39)	I95T	probably benign	Het
Usp17ld	T	A	7: 102,899,967 (GRCm39)	M322L	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het

Other mutations in Spata32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02712:Spata32	APN	11	103,098,973 (GRCm39)	intron	probably benign
IGL02966:Spata32	APN	11	103,099,629 (GRCm39)	missense	possibly damaging	0.89
IGL03178:Spata32	APN	11	103,101,588 (GRCm39)	missense	probably benign
PIT4469001:Spata32	UTSW	11	103,100,653 (GRCm39)	missense	probably benign	0.14
R0245:Spata32	UTSW	11	103,099,921 (GRCm39)	missense	probably damaging	0.99
R0454:Spata32	UTSW	11	103,100,125 (GRCm39)	missense	probably damaging	1.00
R1773:Spata32	UTSW	11	103,099,644 (GRCm39)	missense	probably damaging	1.00
R1881:Spata32	UTSW	11	103,101,561 (GRCm39)	unclassified	probably benign
R3545:Spata32	UTSW	11	103,101,570 (GRCm39)	missense	possibly damaging	0.67
R5485:Spata32	UTSW	11	103,100,122 (GRCm39)	missense	probably damaging	0.96
R5576:Spata32	UTSW	11	103,100,653 (GRCm39)	missense	possibly damaging	0.87
R8966:Spata32	UTSW	11	103,100,143 (GRCm39)	missense	probably damaging	0.98
R9011:Spata32	UTSW	11	103,100,677 (GRCm39)	missense	probably benign	0.04
R9448:Spata32	UTSW	11	103,099,648 (GRCm39)	missense	probably damaging	1.00
R9469:Spata32	UTSW	11	103,099,741 (GRCm39)	missense	possibly damaging	0.67
R9564:Spata32	UTSW	11	103,099,779 (GRCm39)	missense	possibly damaging	0.89

Posted On

2015-04-16