Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02363:Spata1'

290624

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 #

IGL02363

Quality Score

Status

Chromosome

Chromosomal Location

146457196-146499753 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146487364 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 124 (Y124C)

Ref Sequence

ENSEMBL: ENSMUSP00000142800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000093951] [ENSMUST00000197980]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029839
AA Change: Y124C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: Y124C

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

probably benign
Transcript: ENSMUST00000093951

SMART Domains

Protein: ENSMUSP00000091483
Gene: ENSMUSG00000028188

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197684

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197980
AA Change: Y124C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: Y124C

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,218,437	H1490L	possibly damaging	Het
Ak8	T	C	2: 28,812,898	S425P	probably damaging	Het
Comt	T	C	16: 18,411,131	D153G	probably benign	Het
Exoc6	T	C	19: 37,608,954	I601T	probably damaging	Het
F11	A	T	8: 45,241,531	C598S	probably damaging	Het
Galnt13	G	T	2: 55,112,860	D524Y	probably damaging	Het
Glb1l3	T	C	9: 26,853,644	E157G	probably damaging	Het
Hc	T	C	2: 35,000,835	H1323R	probably benign	Het
Hsd3b5	T	C	3: 98,630,105	I32V	probably benign	Het
Il6ra	A	G	3: 89,871,253	S430P	probably benign	Het
Lama2	G	T	10: 27,366,066	T298K	probably damaging	Het
Nedd4l	T	C	18: 65,208,045		probably benign	Het
Ntrk3	T	C	7: 78,453,337	D405G	probably benign	Het
Opn5	T	C	17: 42,557,491	D371G	probably benign	Het
Pcdh15	G	T	10: 74,317,086	A408S	probably damaging	Het
Pim3	T	C	15: 88,862,913	V54A	probably benign	Het
Prdm5	T	C	6: 65,794,319	F38S	probably damaging	Het
Ptgs2	C	T	1: 150,105,709		probably null	Het
Rnf185	A	G	11: 3,418,015	I221T	possibly damaging	Het
Slc27a2	T	C	2: 126,578,950	F318L	possibly damaging	Het
Tmie	G	T	9: 110,870,753		probably benign	Het
Tph2	T	C	10: 115,079,981	K429R	probably benign	Het
Usp32	A	G	11: 85,044,787	Y388H	probably benign	Het
Vmn2r60	A	T	7: 42,195,154	Q647L	probably benign	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
IGL02873:Spata1	APN	3	146487367	missense	possibly damaging	0.86
IGL02898:Spata1	APN	3	146475339	missense	possibly damaging	0.71
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

2015-04-16