Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Spata1'

372304

Institutional Source

Beutler Lab

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

SP-2, 4921536I21Rik

MMRRC Submission

042470-MU

Accession Numbers

Genbank: NM_027617

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146457196-146499753 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 146469774 bp (GRCm38)

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]

AlphaFold

Q9D5R4

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: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	G	T	11: 29,825,178	A93E	probably damaging	Het
Adam25	T	A	8: 40,754,543	V282E	probably benign	Het
Adam26b	T	C	8: 43,520,259	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,545,989	N661D	probably damaging	Het
Adck1	G	A	12: 88,441,095	A199T	probably benign	Het
Adhfe1	A	G	1: 9,558,213	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 45,147,307	R256H	probably benign	Het
Ap5z1	T	C	5: 142,473,993	M466T	possibly damaging	Het
Aspm	C	T	1: 139,469,393	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,945,980	T743S	probably benign	Het
Bag2	G	T	1: 33,746,941	T100K	probably damaging	Het
Camk2a	A	G	18: 60,943,174		probably benign	Het
Ccdc158	A	G	5: 92,633,403	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,725,430	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,332	V405A	probably benign	Het
Ces2g	T	C	8: 104,967,462		probably null	Het
Cfap157	A	G	2: 32,777,542	F510L	probably benign	Het
Chd3	A	T	11: 69,359,896	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,627,464	A168T	probably damaging	Het
Crybg1	A	G	10: 43,992,569	V1371A	probably damaging	Het
Dars2	A	G	1: 161,044,990	L547P	probably damaging	Het
Dis3	A	G	14: 99,087,790	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,356,602	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 66,829,439	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,682,173	F509L	probably benign	Het
Evc	T	C	5: 37,300,909	T85A	probably damaging	Het
Fam196b	A	G	11: 34,403,154	S399G	probably benign	Het
Farsb	T	C	1: 78,467,972	T283A	probably benign	Het
Fgf14	C	A	14: 124,192,433	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,478,401	L363P	probably damaging	Het
Gcg	A	G	2: 62,476,845	V124A	probably damaging	Het
Glb1l	A	G	1: 75,200,319		probably benign	Het
Gm11757	A	G	4: 73,887,220	S351P	probably damaging	Het
Gm5431	T	C	11: 48,889,582	E449G	probably damaging	Het
Gon4l	T	C	3: 88,895,348	S1089P	probably benign	Het
Hgd	T	C	16: 37,588,749	L25P	probably damaging	Het
Hnf1a	T	C	5: 114,955,252	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,967,257	V71G	possibly damaging	Het
Hydin	T	C	8: 110,506,494	S1742P	possibly damaging	Het
Kank2	T	C	9: 21,779,782	E552G	probably benign	Het
Kcnq4	C	A	4: 120,716,613	R217L	probably damaging	Het
Klrg2	T	C	6: 38,627,605	*201W	probably null	Het
Kndc1	T	C	7: 139,921,905	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lonp1	A	G	17: 56,626,587	V96A	probably benign	Het
Mgat4e	T	C	1: 134,541,740	K189E	possibly damaging	Het
Msh2	G	A	17: 87,718,759	V722I	possibly damaging	Het
N4bp2	T	C	5: 65,825,298	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,436,037	K862T	probably damaging	Het
Notch4	A	T	17: 34,587,180	Q1750L	probably damaging	Het
Obscn	C	T	11: 59,082,023	V2066I	possibly damaging	Het
Olfr1031	T	C	2: 85,992,731	S305P	probably damaging	Het
Olfr1211	T	A	2: 88,930,283	I11L	probably benign	Het
Olfr1307	A	T	2: 111,944,811	I215N	probably damaging	Het
Olfr1396	T	C	11: 49,113,166	K187E	probably damaging	Het
Olfr607	A	T	7: 103,461,036	Y57*	probably null	Het
Pde7a	T	A	3: 19,241,491		probably benign	Het
Pign	A	T	1: 105,648,167	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,026,464	E87D	probably damaging	Het
Prss3	T	A	6: 41,373,923	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,636,163	E413G	probably benign	Het
Rnf150	A	G	8: 82,864,083	H25R	probably damaging	Het
Scamp2	T	C	9: 57,581,651		probably null	Het
Scap	T	A	9: 110,374,342		probably benign	Het
Sdc2	A	C	15: 33,032,456	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,667,564		probably null	Het
Sh3tc2	A	G	18: 62,013,093	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,348,145	I46T	probably damaging	Het
Slfn8	A	G	11: 83,017,714	M1T	probably null	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Soga3	A	C	10: 29,150,394	M491L	probably benign	Het
Tbck	T	G	3: 132,801,527	S753R	probably benign	Het
Tdp1	A	G	12: 99,909,811	I340M	probably benign	Het
Tmprss6	T	A	15: 78,446,677	Y50F	probably damaging	Het
Trank1	T	A	9: 111,365,010	S701T	probably benign	Het
Trbv17	A	T	6: 41,163,289	N26I	probably benign	Het
Trip12	A	T	1: 84,793,810	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,601,403	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 86,148,403	V734A	probably benign	Het
Wfdc11	A	T	2: 164,665,495	M14K	probably null	Het
Xcr1	T	A	9: 123,856,647	M17L	probably benign	Het
Zbtb40	A	G	4: 136,988,759	I965T	probably damaging	Het
Zfp760	A	T	17: 21,723,530	H562L	probably damaging	Het
Zfp760	A	T	17: 21,723,535	R564*	probably null	Het
Znf41-ps	T	A	4: 145,828,713		noncoding transcript	Het
Zyg11a	A	T	4: 108,210,190	I41N	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
R4856: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
R8673:Spata1	UTSW	3	146475324	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGGGCACAGTTTACACAGTACC -3'
(R):5'- ATTCAGCAAATGTTTCTCTCAGCTC -3'

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

Posted On

2016-03-01