Mutagenetix > Incidental Mutation

Incidental Mutation 'R5576:Spata32'

457961

Institutional Source

Beutler Lab

Gene Symbol

Spata32

Ensembl Gene

ENSMUSG00000044787

Gene Name

spermatogenesis associated 32

Synonyms

4933400C05Rik

MMRRC Submission

043131-MU

Accession Numbers

Essential gene?

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

Stock #

R5576 (G1)

Quality Score

107

Status

Not validated

Chromosome

Chromosomal Location

103098953-103109258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103100653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 38 (N38I)

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

possibly damaging
Transcript: ENSMUST00000103076
AA Change: N38I

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099365
Gene: ENSMUSG00000044787
AA Change: N38I

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

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,570 (GRCm39)	T96I	probably benign	Het
Add2	G	T	6: 86,084,457 (GRCm39)		probably null	Het
Agbl1	C	T	7: 75,984,985 (GRCm39)	T134M	probably benign	Het
Agfg1	T	A	1: 82,848,445 (GRCm39)	S32T	probably benign	Het
Ankrd17	A	C	5: 90,391,083 (GRCm39)	S2087A	probably benign	Het
Apob	A	T	12: 8,048,662 (GRCm39)	E1012V	probably damaging	Het
Baiap2	T	A	11: 119,887,737 (GRCm39)	V297E	probably benign	Het
BC034090	T	G	1: 155,117,214 (GRCm39)	K301N	probably benign	Het
Bhlha9	T	C	11: 76,563,595 (GRCm39)	I74T	probably damaging	Het
Btnl9	T	C	11: 49,069,712 (GRCm39)	H189R	probably benign	Het
Ccdc122	G	A	14: 77,329,317 (GRCm39)	M123I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dnah9	T	C	11: 65,724,922 (GRCm39)		probably null	Het
Dnaja2	A	T	8: 86,266,033 (GRCm39)	L351I	possibly damaging	Het
Efcab6	C	A	15: 83,834,201 (GRCm39)	S469I	probably benign	Het
Esp15	C	A	17: 39,953,564 (GRCm39)	T17K	probably damaging	Het
Fads1	A	G	19: 10,163,238 (GRCm39)	T172A	probably benign	Het
Fbp2	A	T	13: 62,985,005 (GRCm39)	D305E	probably benign	Het
Golga4	A	G	9: 118,382,602 (GRCm39)	T541A	probably benign	Het
Herc3	T	C	6: 58,865,710 (GRCm39)	Y768H	probably benign	Het
Kmt2a	A	G	9: 44,753,931 (GRCm39)	V514A	possibly damaging	Het
Melk	A	G	4: 44,312,255 (GRCm39)	E141G	probably null	Het
Nln	A	G	13: 104,195,338 (GRCm39)	Y245H	probably damaging	Het
Nrap	C	T	19: 56,310,414 (GRCm39)	R1563H	probably damaging	Het
Or7g34	T	A	9: 19,478,369 (GRCm39)	M101L	probably benign	Het
Or8b44	A	C	9: 38,410,204 (GRCm39)	K80Q	probably damaging	Het
Pde4b	T	A	4: 102,287,359 (GRCm39)	I34N	probably damaging	Het
Pex11g	A	G	8: 3,515,875 (GRCm39)	S53P	probably damaging	Het
Pole	A	T	5: 110,459,931 (GRCm39)	K1112*	probably null	Het
Ppfia4	T	G	1: 134,250,788 (GRCm39)	D184A	possibly damaging	Het
Rpp30	T	A	19: 36,079,251 (GRCm39)	D216E	probably benign	Het
Sbno2	C	T	10: 79,903,171 (GRCm39)	A398T	probably damaging	Het
Sbp	T	A	17: 24,164,552 (GRCm39)	S94T	probably benign	Het
Skp1	T	G	11: 52,133,415 (GRCm39)	D33E	possibly damaging	Het
Slc17a8	A	G	10: 89,433,364 (GRCm39)	W220R	probably damaging	Het
Slfn9	A	T	11: 82,872,258 (GRCm39)	M826K	probably benign	Het
Snx2	A	G	18: 53,343,822 (GRCm39)	K322E	probably benign	Het
Sycp1	T	C	3: 102,726,218 (GRCm39)	R969G	probably damaging	Het
Trgc2	T	C	13: 19,489,301 (GRCm39)	I144V	probably benign	Het
Trpc1	A	G	9: 95,603,377 (GRCm39)	L385S	probably damaging	Het
Vmn2r105	C	T	17: 20,444,836 (GRCm39)		probably null	Het
Xrcc6	T	A	15: 81,906,693 (GRCm39)	D79E	probably damaging	Het
Zan	A	T	5: 137,426,744 (GRCm39)	C2467*	probably null	Het
Zfp26	A	G	9: 20,348,803 (GRCm39)	V587A	possibly damaging	Het
Zfp553	C	T	7: 126,835,875 (GRCm39)	R477C	possibly damaging	Het

Other mutations in Spata32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02422:Spata32	APN	11	103,099,706 (GRCm39)	missense	probably benign	0.38
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
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

Predicted Primers

Posted On

2017-02-16