Mutagenetix > Incidental Mutation

Incidental Mutation 'R7532:Spata1'

583353

Institutional Source

Beutler Lab

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

4921536I21Rik, SP-2

MMRRC Submission

045604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R7532 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146162951-146205508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146173946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 380 (I380N)

Ref Sequence

ENSEMBL: ENSMUSP00000029839 (fasta)

Gene Model

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

AlphaFold

Q9D5R4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029839
AA Change: I380N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: I380N

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

probably damaging
Transcript: ENSMUST00000195949
AA Change: I90N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143495
Gene: ENSMUSG00000028188
AA Change: I90N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197980
AA Change: I380N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: I380N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,220,589 (GRCm39)	I174K	probably damaging	Het
Ano2	A	T	6: 125,940,667 (GRCm39)	I597F	probably damaging	Het
Ap1g1	T	C	8: 110,586,796 (GRCm39)	V813A	probably damaging	Het
Bpnt1	A	T	1: 185,084,523 (GRCm39)	I207F	possibly damaging	Het
Brinp3	T	A	1: 146,777,139 (GRCm39)	W529R	probably damaging	Het
C2cd2l	C	T	9: 44,226,681 (GRCm39)	R355Q	probably benign	Het
Ccser1	T	A	6: 62,356,915 (GRCm39)	C784*	probably null	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Chd9	A	G	8: 91,721,193 (GRCm39)	I994V	unknown	Het
Cst13	T	G	2: 148,665,127 (GRCm39)	Y41D	probably benign	Het
Cyth2	C	T	7: 45,457,448 (GRCm39)	A342T	probably benign	Het
Dapk1	T	C	13: 60,878,700 (GRCm39)	L563P	probably damaging	Het
Dclk3	T	G	9: 111,296,596 (GRCm39)	S47A	probably benign	Het
Dync1h1	C	A	12: 110,618,011 (GRCm39)	N3183K	probably benign	Het
Enpp1	C	T	10: 24,551,885 (GRCm39)	V165M	probably benign	Het
Ephx3	T	C	17: 32,407,763 (GRCm39)	N173S	possibly damaging	Het
Erc1	T	A	6: 119,756,592 (GRCm39)	D388V	probably benign	Het
Esp34	T	G	17: 38,870,511 (GRCm39)	V135G	possibly damaging	Het
Gfy	G	A	7: 44,827,461 (GRCm39)	P212S	probably damaging	Het
Gm5239	C	T	18: 35,669,795 (GRCm39)	R54C	probably benign	Het
Gtpbp3	T	C	8: 71,942,107 (GRCm39)	F113L	probably benign	Het
Hectd1	T	A	12: 51,837,233 (GRCm39)	D775V	probably damaging	Het
Ifrd2	T	G	9: 107,469,721 (GRCm39)	S431R	probably damaging	Het
Impg2	G	A	16: 56,087,543 (GRCm39)	A1121T	probably damaging	Het
Irx1	A	G	13: 72,108,314 (GRCm39)	F123L	possibly damaging	Het
Itgb6	C	T	2: 60,499,557 (GRCm39)	V79I	probably benign	Het
Kcnd3	G	A	3: 105,575,526 (GRCm39)	R550H	probably damaging	Het
Klhl9	A	T	4: 88,639,090 (GRCm39)	S384T	possibly damaging	Het
Kng2	T	C	16: 22,845,794 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,560,464 (GRCm39)	N67S	possibly damaging	Het
Mgst1	T	C	6: 138,130,504 (GRCm39)	S78P	probably benign	Het
Ms4a14	A	G	19: 11,281,323 (GRCm39)	Y412H	possibly damaging	Het
Mucl2	A	C	15: 103,926,318 (GRCm39)	I124S	unknown	Het
Myh3	A	G	11: 66,981,921 (GRCm39)	M806V	probably benign	Het
Nelfcd	T	C	2: 174,268,189 (GRCm39)	L501P	probably damaging	Het
Nlrp6	C	A	7: 140,505,097 (GRCm39)	P748Q	probably benign	Het
Or1j13	C	T	2: 36,370,138 (GRCm39)	M1I	probably null	Het
Or6n2	T	C	1: 173,897,664 (GRCm39)	S267P	probably benign	Het
Plxna2	G	A	1: 194,327,127 (GRCm39)	A354T	probably benign	Het
Prpf39	G	T	12: 65,100,145 (GRCm39)	V273L	probably benign	Het
Rad9a	T	C	19: 4,251,522 (GRCm39)		probably benign	Het
Rnf135	A	G	11: 80,089,732 (GRCm39)	D356G	probably benign	Het
Rragd	G	T	4: 33,004,166 (GRCm39)	A153S	possibly damaging	Het
Selenot	G	T	3: 58,492,653 (GRCm39)	V47L	probably benign	Het
Smc2	T	C	4: 52,451,013 (GRCm39)	L277P	probably damaging	Het
Sp7	A	G	15: 102,267,584 (GRCm39)	F92S	possibly damaging	Het
Spdye4b	G	T	5: 143,180,652 (GRCm39)	R39S	possibly damaging	Het
Spmip9	T	C	6: 70,890,621 (GRCm39)	K57R	probably benign	Het
Stom	C	A	2: 35,211,589 (GRCm39)	R144L	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,486 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,249,565 (GRCm39)	T998A	probably benign	Het
Vcl	C	A	14: 21,079,392 (GRCm39)	A965D	probably damaging	Het
Vmn1r69	A	T	7: 10,314,281 (GRCm39)	V150D	probably damaging	Het
Vmn1r90	T	G	7: 14,295,189 (GRCm39)	N303T	possibly damaging	Het
Vmn2r69	A	T	7: 85,059,622 (GRCm39)	M429K	probably benign	Het
Vmn2r8	T	A	5: 108,950,106 (GRCm39)	Y247F	probably benign	Het
Washc5	A	T	15: 59,239,260 (GRCm39)	S168T	possibly damaging	Het

Other mutations in Spata1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Spata1	APN	3	146,181,997 (GRCm39)	missense	possibly damaging	0.94
IGL01306:Spata1	APN	3	146,193,154 (GRCm39)	nonsense	probably null
IGL01537:Spata1	APN	3	146,195,558 (GRCm39)	splice site	probably benign
IGL02363:Spata1	APN	3	146,193,119 (GRCm39)	missense	possibly damaging	0.96
IGL02873:Spata1	APN	3	146,193,122 (GRCm39)	missense	possibly damaging	0.86
IGL02898:Spata1	APN	3	146,181,094 (GRCm39)	missense	possibly damaging	0.71
IGL03071:Spata1	APN	3	146,181,089 (GRCm39)	missense	possibly damaging	0.93
IGL03204:Spata1	APN	3	146,194,434 (GRCm39)	missense	probably benign	0.18
ANU23:Spata1	UTSW	3	146,193,154 (GRCm39)	nonsense	probably null
H8930:Spata1	UTSW	3	146,193,026 (GRCm39)	nonsense	probably null
R0414:Spata1	UTSW	3	146,181,943 (GRCm39)	splice site	probably null
R1109:Spata1	UTSW	3	146,181,053 (GRCm39)	missense	possibly damaging	0.51
R1742:Spata1	UTSW	3	146,175,378 (GRCm39)	critical splice donor site	probably null
R1816:Spata1	UTSW	3	146,186,962 (GRCm39)	missense	probably damaging	0.98
R2006:Spata1	UTSW	3	146,199,438 (GRCm39)	missense	probably benign	0.18
R2851:Spata1	UTSW	3	146,193,295 (GRCm39)	missense	possibly damaging	0.96
R2852:Spata1	UTSW	3	146,193,295 (GRCm39)	missense	possibly damaging	0.96
R3416:Spata1	UTSW	3	146,193,263 (GRCm39)	splice site	probably benign
R3911:Spata1	UTSW	3	146,181,079 (GRCm39)	missense	probably damaging	0.99
R4856:Spata1	UTSW	3	146,175,529 (GRCm39)	missense	probably damaging	0.99
R4859:Spata1	UTSW	3	146,175,529 (GRCm39)	missense	probably damaging	0.99
R4886:Spata1	UTSW	3	146,175,529 (GRCm39)	missense	probably damaging	0.99
R6902:Spata1	UTSW	3	146,181,078 (GRCm39)	missense	possibly damaging	0.77
R7459:Spata1	UTSW	3	146,181,977 (GRCm39)	missense	possibly damaging	0.86
R7997:Spata1	UTSW	3	146,182,035 (GRCm39)	missense	probably benign	0.44
R8194:Spata1	UTSW	3	146,195,614 (GRCm39)	missense	possibly damaging	0.72
R8673:Spata1	UTSW	3	146,181,079 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCCTTTGCCTGTTACAACATG -3'
(R):5'- TAATCCCTAATGCACAGGATTGC -3'

Sequencing Primer
(F):5'- AAGAAGAGTTGGTCCTGGCTCC -3'
(R):5'- GGATTGCAACAGAAAGACTCATC -3'

Posted On

2019-10-17