Mutagenetix > Incidental Mutations

Incidental Mutation 'R3416:Spata1'

266794

Institutional Source

Beutler Lab

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

SP-2, 4921536I21Rik

MMRRC Submission

040634-MU

Accession Numbers

Genbank: NM_027617

Is this an essential gene?

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

Stock #

R3416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146457196-146499753 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 146487508 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142800 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029839

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188

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

unknown
Transcript: ENSMUST00000093951
AA Change: C107S

SMART Domains

Protein: ENSMUSP00000091483
Gene: ENSMUSG00000028188
AA Change: C107S

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

probably benign
Transcript: ENSMUST00000197980

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	T	C	10: 83,759,632		probably null	Het
Abi1	T	C	2: 23,040,002	S22G	probably damaging	Het
Adgrl2	T	C	3: 148,859,329	Y201C	probably damaging	Het
Adnp2	T	C	18: 80,128,158	E1012G	possibly damaging	Het
Azin1	A	T	15: 38,493,546	S278T	possibly damaging	Het
Crocc	G	A	4: 141,046,447	T103I	possibly damaging	Het
Cyb561d2	A	G	9: 107,540,126	L142P	probably damaging	Het
Cyhr1	A	T	15: 76,658,715		probably null	Het
Cyp4f39	T	C	17: 32,489,742	V421A	possibly damaging	Het
Fryl	T	C	5: 73,108,074	Q510R	possibly damaging	Het
Gfra1	T	C	19: 58,267,112	Y301C	probably damaging	Het
Igsf9b	G	A	9: 27,309,478	V47I	possibly damaging	Het
Klhl42	G	A	6: 147,107,880	V406M	probably damaging	Het
Mfsd13a	C	T	19: 46,371,992	R328C	probably damaging	Het
Mycs	C	T	X: 5,468,756	S90N	possibly damaging	Het
Olfr508	G	A	7: 108,630,018	V9I	possibly damaging	Het
Pcdha8	A	T	18: 36,992,630	Q55L	probably benign	Het
Pkhd1l1	A	G	15: 44,547,364	T2756A	probably damaging	Het
Prl8a8	A	T	13: 27,511,549	C71S	probably damaging	Het
Ralgapa1	T	A	12: 55,770,613		probably benign	Het
Rtl4	C	T	X: 145,119,905	Q108*	probably null	Het
Scn4a	A	T	11: 106,330,413	S807T	probably benign	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Smg1	G	C	7: 118,148,853		probably benign	Het
Strbp	C	G	2: 37,590,725	R610T	possibly damaging	Het
Susd5	A	G	9: 114,095,658	D203G	possibly damaging	Het
Tas2r124	A	T	6: 132,755,638	R303S	probably benign	Het
Tgm3	G	A	2: 130,047,772	V629M	possibly damaging	Het
Tha1	T	C	11: 117,873,200	D67G	possibly damaging	Het
Vmn2r120	T	A	17: 57,509,241	I705F	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zan	T	A	5: 137,435,720	E2250D	unknown	Het
Zfp560	A	T	9: 20,347,678	Y629*	probably null	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
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'- CTGTAGATTGTTCCATTAATCTCCG -3'
(R):5'- CTCTGTGATCCAGCCATAGTTG -3'

Sequencing Primer
(F):5'- ACTCTCCTGTTCATCTAAAGTAACTG -3'
(R):5'- GATCCAGCCATAGTTGCTTTTATTG -3'

Posted On

2015-02-18