Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02898:Spata1'

363491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

SP-2, 4921536I21Rik

Accession Numbers

Genbank: NM_027617

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL02898

Quality Score

Status

Chromosome

Chromosomal Location

146457196-146499753 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146475339 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 288 (R288Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000195949] [ENSMUST00000197980]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029839
AA Change: R288Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: R288Q

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:SPATA1_C	279	428	1.7e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123421

Predicted Effect

probably benign
Transcript: ENSMUST00000195949

SMART Domains

Protein: ENSMUSP00000143495
Gene: ENSMUSG00000028188

Domain	Start	End	E-Value	Type
Pfam:SPATA1_C	11	137	1e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197684

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197980
AA Change: R288Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: R288Q

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
SCOP:d1eq1a_	267	365	8e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,342,231		probably benign	Het
Brd3	A	G	2: 27,459,741	S267P	possibly damaging	Het
Btaf1	A	G	19: 36,969,068	T425A	probably benign	Het
Caskin1	A	T	17: 24,502,409	E544D	probably benign	Het
Col20a1	C	T	2: 180,989,112	Q58*	probably null	Het
Eif2ak1	G	A	5: 143,889,452	V428I	probably damaging	Het
Fez2	A	G	17: 78,384,755	I345T	probably benign	Het
Focad	A	T	4: 88,391,997	M1388L	probably benign	Het
Gfer	T	C	17: 24,695,947	R41G	probably benign	Het
Gm6614	T	A	6: 141,994,297	Y140F	probably benign	Het
Gm9956	C	T	10: 56,745,254	S4L	unknown	Het
Krtap6-1	G	A	16: 89,031,755	G13D	unknown	Het
Megf8	A	G	7: 25,346,508	E1492G	possibly damaging	Het
Myh7	T	C	14: 54,983,740	I909V	probably damaging	Het
Olfr380	T	A	11: 73,453,735	H159L	probably damaging	Het
Olfr741	T	A	14: 50,486,186	S243T	probably damaging	Het
Otog	A	G	7: 46,310,138	E717G	probably damaging	Het
Pik3r4	A	G	9: 105,650,406	I319M	probably benign	Het
Piwil4	A	T	9: 14,706,287		probably benign	Het
Plekho1	T	A	3: 95,992,181	H100L	probably damaging	Het
Prr30	T	G	14: 101,198,481	D215A	probably benign	Het
Prss52	C	T	14: 64,113,666	A300V	possibly damaging	Het
Ralgps2	C	A	1: 156,817,744	K514N	probably benign	Het
Robo4	T	C	9: 37,408,176	I463T	probably damaging	Het
Sars	A	T	3: 108,429,263	F268Y	probably damaging	Het
Sidt1	C	T	16: 44,282,495	R289Q	possibly damaging	Het
Slco2a1	T	C	9: 103,079,606	V539A	probably damaging	Het
Snrnp200	A	G	2: 127,216,756		probably benign	Het
Spag17	A	G	3: 100,101,386	D1944G	probably benign	Het
Tatdn3	T	C	1: 191,046,310	*233W	probably null	Het
Ttc3	T	A	16: 94,419,426	V536E	probably damaging	Het
V1rd19	A	C	7: 24,003,429	T107P	probably damaging	Het

Other mutations in Spata1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Spata1	APN	3	146476242	missense	possibly damaging	0.94
IGL01306:Spata1	APN	3	146487399	nonsense	probably null
IGL01537:Spata1	APN	3	146489803	splice site	probably benign
IGL02363:Spata1	APN	3	146487364	missense	possibly damaging	0.96
IGL02873:Spata1	APN	3	146487367	missense	possibly damaging	0.86
IGL03071:Spata1	APN	3	146475334	missense	possibly damaging	0.93
IGL03204:Spata1	APN	3	146488679	missense	probably benign	0.18
ANU23:Spata1	UTSW	3	146487399	nonsense	probably null
H8930:Spata1	UTSW	3	146487271	nonsense	probably null
R0414:Spata1	UTSW	3	146476188	splice site	probably null
R1109:Spata1	UTSW	3	146475298	missense	possibly damaging	0.51
R1742:Spata1	UTSW	3	146469623	critical splice donor site	probably null
R1816:Spata1	UTSW	3	146481207	missense	probably damaging	0.98
R2006:Spata1	UTSW	3	146493683	missense	probably benign	0.18
R2851:Spata1	UTSW	3	146487540	missense	possibly damaging	0.96
R2852:Spata1	UTSW	3	146487540	missense	possibly damaging	0.96
R3416:Spata1	UTSW	3	146487508	splice site	probably benign
R3911:Spata1	UTSW	3	146475324	missense	probably damaging	0.99
R4856:Spata1	UTSW	3	146469774	missense	probably damaging	0.99
R4859:Spata1	UTSW	3	146469774	missense	probably damaging	0.99
R4886:Spata1	UTSW	3	146469774	missense	probably damaging	0.99
R6902:Spata1	UTSW	3	146475323	missense	possibly damaging	0.77
R7459:Spata1	UTSW	3	146476222	missense	possibly damaging	0.86
R7532:Spata1	UTSW	3	146468191	missense	possibly damaging	0.86
R7997:Spata1	UTSW	3	146476280	missense	probably benign	0.44
R8194:Spata1	UTSW	3	146489859	missense	possibly damaging	0.72

Posted On

2015-12-18