Mutagenetix > Incidental Mutations

Incidental Mutation 'R6902:Spata1'

538570

Institutional Source

Beutler Lab

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

SP-2, 4921536I21Rik

MMRRC Submission

Accession Numbers

Genbank: NM_027617

Is this an essential gene?

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

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146457196-146499753 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146475323 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 293 (N293K)

Ref Sequence

ENSEMBL: ENSMUSP00000142800 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029839
AA Change: N293K

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: N293K

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: ENSMUST00000195949

SMART Domains

Protein: ENSMUSP00000143495
Gene: ENSMUSG00000028188

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197980
AA Change: N293K

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: N293K

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,488,144		probably benign	Het
9530053A07Rik	C	T	7: 28,137,213	R186C	probably damaging	Het
Abcc9	T	A	6: 142,679,227	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,689,587	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,538,555	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,115,545	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,816,289	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,042,951	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,201,028	Q101*	probably null	Het
Clstn2	A	T	9: 97,469,822	F517I	probably damaging	Het
Cog2	A	G	8: 124,546,691	K590E	probably damaging	Het
Coq9	G	A	8: 94,850,552	E182K	probably benign	Het
Focad	C	T	4: 88,230,476	R477C	unknown	Het
Gja10	G	T	4: 32,601,905	H160N	probably damaging	Het
Gm1673	G	A	5: 33,983,579		probably benign	Het
Gpr132	T	A	12: 112,852,210	Y332F	probably benign	Het
Herc2	A	G	7: 56,135,486	T1495A	probably benign	Het
Hivep3	T	A	4: 120,095,995	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,745,899	I190N	possibly damaging	Het
Igf1r	T	A	7: 68,004,163	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,937,535	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,179,040	I251F	probably benign	Het
Krt79	T	C	15: 101,931,879	N294S	probably benign	Het
Lama2	T	G	10: 26,981,629	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,459,813	C386G	probably benign	Het
Lrp2	T	C	2: 69,459,503	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,703,149	M344K	probably damaging	Het
Mier2	C	A	10: 79,540,839		probably benign	Het
Mmp2	G	A	8: 92,836,917	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,643,699	I35F	probably benign	Het
Myo5b	A	T	18: 74,676,685	I613F	possibly damaging	Het
Olfr299	T	A	7: 86,465,787	C125*	probably null	Het
Olfr585	A	T	7: 103,098,355	I205F	probably benign	Het
Olfr867	A	T	9: 20,055,374	L30M	possibly damaging	Het
Olfr948	C	A	9: 39,319,019	L198F	probably damaging	Het
Pan2	A	G	10: 128,315,637	T867A	probably benign	Het
Papolb	T	A	5: 142,528,151	H579L	probably benign	Het
Pcf11	C	A	7: 92,658,299	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,301,397	S524P	possibly damaging	Het
Pole3	T	C	4: 62,524,063		probably benign	Het
Prdm14	C	T	1: 13,122,421	V365I	probably benign	Het
Shank1	T	A	7: 44,356,815	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,666	I421V	possibly damaging	Het
Slc2a6	C	T	2: 27,023,160	V374M	probably benign	Het
Stk40	T	A	4: 126,137,812	D366E	probably benign	Het
Tas2r117	T	C	6: 132,803,325	L142S	probably damaging	Het
Tcrg-V1	T	C	13: 19,340,020	L2P	probably benign	Het
Tomm70a	T	C	16: 57,138,081	S266P	probably damaging	Het
Vipr2	A	T	12: 116,139,199	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,499,241		probably null	Het
Zfp961	A	G	8: 71,968,678	K345R	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
R4859:Spata1	UTSW	3	146469774	missense	probably damaging	0.99
R4886:Spata1	UTSW	3	146469774	missense	probably damaging	0.99
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'- ACGGTCTGTAGGAAACAAGTTG -3'
(R):5'- CTCCATGGTGGTAAGAGCAG -3'

Sequencing Primer
(F):5'- TCTGTAGGAAACAAGTTGAATGACTG -3'
(R):5'- GAGCAGAAAGAAAAACATGGTTTG -3'

Posted On

2018-11-06