Mutagenetix > Incidental Mutations

Incidental Mutation 'R2852:Spata1'

252287

Institutional Source

Beutler Lab

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

SP-2, 4921536I21Rik

MMRRC Submission

040445-MU

Accession Numbers

Genbank: NM_027617

Is this an essential gene?

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

Stock #

R2852 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146457196-146499753 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146487540 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 96 (L96P)

Ref Sequence

ENSEMBL: ENSMUSP00000142800 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029839
AA Change: L96P

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

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: L96P

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

possibly damaging
Transcript: ENSMUST00000093951
AA Change: L96P

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

SMART Domains

Protein: ENSMUSP00000091483
Gene: ENSMUSG00000028188
AA Change: L96P

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: L96P

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

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: L96P

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

Meta Mutation Damage Score

0.0775

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	A	C	1: 34,724,048	D795A	unknown	Het
Bank1	A	T	3: 136,242,940	S159T	possibly damaging	Het
Catsperd	A	G	17: 56,660,169		probably null	Het
Cblc	A	G	7: 19,780,964		probably null	Het
Cfap54	T	C	10: 92,940,155	Y48C	probably damaging	Het
Chrng	A	G	1: 87,206,706	I156M	probably benign	Het
Dennd5a	A	T	7: 109,933,671	N297K	probably damaging	Het
Depdc5	A	G	5: 32,924,171	E559G	probably damaging	Het
Dzip1	A	C	14: 118,922,445	M117R	possibly damaging	Het
Ednrb	G	T	14: 103,821,674	S305R	probably benign	Het
Egflam	A	T	15: 7,219,701	W879R	probably damaging	Het
Ehbp1l1	T	A	19: 5,716,487	D332V	probably damaging	Het
Far1	T	C	7: 113,553,737	Y351H	possibly damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	1: 88,503,275		probably benign	Het
Hspd1	A	T	1: 55,081,097	D315E	probably damaging	Het
Kap	T	C	6: 133,850,094	K92E	probably benign	Het
Kcnv2	T	C	19: 27,323,096	Y116H	probably benign	Het
Krt82	T	C	15: 101,548,435	Y170C	probably damaging	Het
Krtap13	T	C	16: 88,751,636		probably benign	Het
Man2a1	A	G	17: 64,713,601	K791E	probably benign	Het
Map4k4	T	A	1: 40,000,755		probably benign	Het
Mdc1	T	A	17: 35,849,010	V670D	probably benign	Het
Mre11a	A	G	9: 14,826,547	E599G	probably benign	Het
Mrln	T	C	10: 70,219,626	I44T	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mycbp2	A	T	14: 103,144,333	F3724I	probably damaging	Het
Npsr1	A	G	9: 24,310,005		probably benign	Het
Oosp3	T	A	19: 11,699,532		probably null	Het
Pah	T	A	10: 87,567,465	L131Q	probably damaging	Het
Pde6h	G	A	6: 136,963,208	C64Y	probably damaging	Het
Pdzd7	C	G	19: 45,027,674	V1003L	probably benign	Het
Pilra	T	A	5: 137,836,080	M14L	probably benign	Het
Prkdc	T	C	16: 15,652,552		probably null	Het
Rnf168	A	G	16: 32,282,374	E124G	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Stk11ip	A	G	1: 75,529,267		probably benign	Het
Stx5a	T	C	19: 8,755,112		probably benign	Het
Tek	A	G	4: 94,820,224	T340A	probably benign	Het
Tmeff1	T	A	4: 48,604,692		probably null	Het
Vmn2r85	T	A	10: 130,419,166	M550L	probably benign	Het
Wdr78	A	G	4: 103,096,661	S114P	probably benign	Het
Zfp14	A	G	7: 30,039,171	Y130H	probably benign	Het
Zfp653	A	T	9: 22,057,566	D426E	probably benign	Het
Zfyve28	G	A	5: 34,196,662	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364	T549A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTGATGCTGAATAAACATTTCCT -3'
(R):5'- ACACCAATTCCCATGCAAATGAT -3'

Sequencing Primer
(F):5'- TCCTAAGTGATCTATTACAGGAAGC -3'
(R):5'- TCAGTTAAGTTTGGTTCAGTGAATAG -3'

Posted On

2014-12-04