Mutagenetix > Incidental Mutations

Incidental Mutation 'R4856:Spata1'

373940

Institutional Source

Beutler Lab

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

SP-2, 4921536I21Rik

MMRRC Submission

042467-MU

Accession Numbers

Genbank: NM_027617

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R4856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146457196-146499753 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 146469774 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 326 (D326H)

Ref Sequence

ENSEMBL: ENSMUSP00000142800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000029840] [ENSMUST00000061937] [ENSMUST00000195949] [ENSMUST00000197980]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029839
AA Change: D326H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: D326H

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: ENSMUST00000029840

SMART Domains

Protein: ENSMUSP00000029840
Gene: ENSMUSG00000028189

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:Glyco_hydro_18	79	257	1.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061937

SMART Domains

Protein: ENSMUSP00000059167
Gene: ENSMUSG00000028189

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Glyco_18	45	343	2.62e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123421

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195949
AA Change: D36H

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143495
Gene: ENSMUSG00000028188
AA Change: D36H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197980
AA Change: D326H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: D326H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200488

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	G	A	6: 140,644,073		probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp2b4	T	A	1: 133,706,780	I1177L	probably benign	Het
Bub3	A	T	7: 131,561,568	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,278,256	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,873,011	S268A	probably benign	Het
Card6	T	C	15: 5,105,141		probably null	Het
Cdk13	A	G	13: 17,719,734	S1103P	probably benign	Het
Cfap221	T	C	1: 119,934,204	T614A	probably damaging	Het
Cfap221	T	A	1: 119,984,758	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,676,838	T513A	probably benign	Het
Clec4g	T	A	8: 3,716,419		probably benign	Het
Cntln	A	C	4: 84,971,229	E316D	probably benign	Het
Cpne2	T	A	8: 94,563,964	D392E	probably benign	Het
Cry1	G	T	10: 85,148,770	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,252,881	V440A	probably benign	Het
Ddx46	A	G	13: 55,638,199	D64G	unknown	Het
Dhx34	A	G	7: 16,215,442	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,522,787	I327F	possibly damaging	Het
Elavl3	T	C	9: 22,026,318	K189E	possibly damaging	Het
Enam	A	T	5: 88,488,734	R82*	probably null	Het
Erf	A	G	7: 25,246,211	V45A	probably damaging	Het
Fat3	T	A	9: 16,021,330	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,890	Y1231H	probably damaging	Het
Ggta1	T	A	2: 35,402,791	H180L	possibly damaging	Het
Gm13103	G	T	4: 143,853,303	R486L	probably benign	Het
Grin2c	T	C	11: 115,260,790	T115A	probably damaging	Het
H6pd	C	T	4: 149,982,778	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,277,008	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,829,827	P618S	probably benign	Het
Hpse2	C	T	19: 42,788,957	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,193,803	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,567,154	R118L	possibly damaging	Het
Iqcm	A	T	8: 75,888,600	R436S	possibly damaging	Het
Islr	T	C	9: 58,157,606	D206G	probably damaging	Het
Itih1	A	G	14: 30,936,701		probably null	Het
Jam2	G	A	16: 84,801,602	D34N	probably benign	Het
Klhl14	A	T	18: 21,557,972		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lrrc66	A	G	5: 73,608,567	F378L	probably benign	Het
Map10	T	A	8: 125,670,692	Y275N	probably damaging	Het
Mpi	T	C	9: 57,545,307	Y314C	probably damaging	Het
Mpp3	A	G	11: 102,025,136	Y55H	probably benign	Het
Nectin4	T	C	1: 171,384,815	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,240,442	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,083,155		probably benign	Het
Notch2	A	T	3: 98,102,419	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,369,611	K167E	probably benign	Het
Olfr147	A	T	9: 38,403,468	N195I	probably damaging	Het
Olfr1472	T	C	19: 13,454,521		probably null	Het
Olfr1501	T	A	19: 13,838,279	E298V	probably damaging	Het
Olfr695	T	A	7: 106,873,970	I92F	probably damaging	Het
Olfr761	A	T	17: 37,952,071	S318T	probably benign	Het
Olr1	T	A	6: 129,493,596	K203*	probably null	Het
Osbpl9	T	C	4: 109,068,367	N485S	probably benign	Het
Pbk	T	A	14: 65,815,201	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,847,453	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,437,163	D133G	probably damaging	Het
Prl6a1	A	T	13: 27,319,000	D193V	probably damaging	Het
Rad21	G	T	15: 51,968,500	P395Q	probably damaging	Het
Reps1	T	A	10: 18,123,625	I720N	probably damaging	Het
Rpn2	T	C	2: 157,318,044		probably null	Het
Rreb1	G	A	13: 37,931,058	V798M	possibly damaging	Het
Sardh	C	T	2: 27,244,477	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,766,754	P36S	probably damaging	Het
Scn10a	C	A	9: 119,694,309	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,694,310	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,461,032	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,983,970	H1226Q	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc12a3	G	A	8: 94,351,810		probably null	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Tcrg-V4	T	C	13: 19,185,066	V29A	probably benign	Het
Tex52	A	T	6: 128,384,988		probably null	Het
Tma16	A	C	8: 66,481,477	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416		probably benign	Het
Trmt10a	A	T	3: 138,148,385	K75*	probably null	Het
Ttc3	T	C	16: 94,390,283	V228A	probably benign	Het
Ttn	T	C	2: 76,731,300	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,035,964		probably null	Het
Vars	T	A	17: 35,015,726	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,454,533	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,308,034	A508E	probably benign	Het
Vps41	G	A	13: 18,829,255	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,453,932	H427R	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
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
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'- GAGGGCACAGTTTACACAGTAC -3'
(R):5'- CAGCAAATGTTTCTCTCAGCTC -3'

Sequencing Primer
(F):5'- GGGCACAGTTTACACAGTACCTTAG -3'
(R):5'- AAATGCTTTTAATTGGTTGCTTCTTG -3'

Posted On

2016-03-01