Mutagenetix > Incidental Mutation

Incidental Mutation 'R8123:Spata3'

631584

Institutional Source

Beutler Lab

Gene Symbol

Spata3

Ensembl Gene

ENSMUSG00000026226

Gene Name

spermatogenesis associated 3

Synonyms

1700011N12Rik, 4930424D10Rik, 1700029H01Rik, TSARG1

MMRRC Submission

067552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8123 (G1)

Quality Score

162.009

Status

Validated

Chromosome

Chromosomal Location

85945728-85957683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85952075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 110 (R110C)

Ref Sequence

ENSEMBL: ENSMUSP00000050509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052854] [ENSMUST00000113344] [ENSMUST00000125083] [ENSMUST00000130504] [ENSMUST00000135440] [ENSMUST00000149469] [ENSMUST00000152501] [ENSMUST00000153247] [ENSMUST00000159876]

AlphaFold

Q9D9T6

Predicted Effect

unknown
Transcript: ENSMUST00000052854
AA Change: R110C

SMART Domains

Protein: ENSMUSP00000050509
Gene: ENSMUSG00000026226
AA Change: R110C

Domain	Start	End	E-Value	Type
low complexity region	2	52	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	108	123	N/A	INTRINSIC
low complexity region	169	191	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113344
AA Change: R109C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108971
Gene: ENSMUSG00000026226
AA Change: R109C

Domain	Start	End	E-Value	Type
low complexity region	2	52	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	107	122	N/A	INTRINSIC
low complexity region	168	190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125083

SMART Domains

Protein: ENSMUSP00000120768
Gene: ENSMUSG00000026226

Domain	Start	End	E-Value	Type
low complexity region	2	52	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130504
AA Change: R109C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116903
Gene: ENSMUSG00000026226
AA Change: R109C

Domain	Start	End	E-Value	Type
low complexity region	2	52	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	107	122	N/A	INTRINSIC
low complexity region	168	190	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123844
Gene: ENSMUSG00000026226
AA Change: R90C

Domain	Start	End	E-Value	Type
Pfam:SPATA3	1	173	8.4e-85	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000135440
AA Change: R110C

SMART Domains

Protein: ENSMUSP00000123587
Gene: ENSMUSG00000026226
AA Change: R110C

Domain	Start	End	E-Value	Type
low complexity region	2	52	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	108	123	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000149469
AA Change: R250C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000152501
AA Change: R109C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123194
Gene: ENSMUSG00000026226
AA Change: R109C

Domain	Start	End	E-Value	Type
low complexity region	2	52	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	107	122	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153247

SMART Domains

Protein: ENSMUSP00000117650
Gene: ENSMUSG00000026226

Domain	Start	End	E-Value	Type
low complexity region	2	52	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000159876
AA Change: R110C

SMART Domains

Protein: ENSMUSP00000124671
Gene: ENSMUSG00000026226
AA Change: R110C

Domain	Start	End	E-Value	Type
Pfam:SPATA3	1	192	1.1e-95	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.0%
20x: 97.1%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,805,272 (GRCm39)	V79F	probably damaging	Het
Acvr2a	T	C	2: 48,763,384 (GRCm39)	S143P	probably damaging	Het
Adam22	T	A	5: 8,142,833 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ankhd1	T	C	18: 36,708,136 (GRCm39)	F60S		Het
Cacna1s	A	T	1: 136,035,917 (GRCm39)	I1386F	probably damaging	Het
Cav2	T	A	6: 17,286,992 (GRCm39)	C145*	probably null	Het
Cc2d2a	A	T	5: 43,867,896 (GRCm39)	T847S	probably benign	Het
Ces2g	T	A	8: 105,693,555 (GRCm39)	M412K	probably benign	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,179,704 (GRCm39)	V746A	probably damaging	Het
Dnm3	A	G	1: 161,838,672 (GRCm39)	S230P	probably benign	Het
Dph3	T	C	14: 31,805,157 (GRCm39)	K77R	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fcgr4	A	G	1: 170,847,572 (GRCm39)	I57V	probably benign	Het
Fhad1	A	T	4: 141,712,836 (GRCm39)	I201K	probably benign	Het
Foxc2	C	T	8: 121,843,601 (GRCm39)	A83V	probably damaging	Het
Garnl3	T	C	2: 32,994,950 (GRCm39)	K20E	probably damaging	Het
Gtf2e1	A	T	16: 37,336,105 (GRCm39)	Y290N	possibly damaging	Het
Gtf3c1	A	G	7: 125,303,196 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,146,027 (GRCm39)	S743N	probably benign	Het
Lamp1	A	G	8: 13,217,158 (GRCm39)	I56V	probably benign	Het
Lipt2	A	G	7: 99,808,586 (GRCm39)	D33G	probably benign	Het
Mat2a	A	G	6: 72,411,321 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,064,135 (GRCm39)	E65G	probably benign	Het
Nedd4l	T	C	18: 65,207,845 (GRCm39)	L58P	probably damaging	Het
Ngly1	T	A	14: 16,260,799 (GRCm38)	M161K	probably benign	Het
Nod1	C	T	6: 54,914,391 (GRCm39)	G801R	probably damaging	Het
Npy1r	A	T	8: 67,157,619 (GRCm39)	I310F	probably damaging	Het
Or14j2	G	C	17: 37,885,653 (GRCm39)	H220Q	probably benign	Het
Or5k1b	T	A	16: 58,581,537 (GRCm39)	M1L	possibly damaging	Het
Pde3a	A	T	6: 141,411,917 (GRCm39)	Y497F	probably benign	Het
Pecr	A	T	1: 72,314,094 (GRCm39)	S153T	probably benign	Het
Pi4ka	A	G	16: 17,098,956 (GRCm39)	V1976A		Het
Plrg1	G	A	3: 82,973,237 (GRCm39)	A181T	probably benign	Het
Pou2f2	T	C	7: 24,796,433 (GRCm39)	K322R	possibly damaging	Het
Ppp1r17	T	A	6: 55,999,443 (GRCm39)	D25E	probably damaging	Het
Radil	A	C	5: 142,473,375 (GRCm39)	Y769D	probably damaging	Het
Ric8b	A	G	10: 84,805,737 (GRCm39)	N283D	probably damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Traj39	G	A	14: 54,417,451 (GRCm39)	G11R		Het
Ugt2b36	G	A	5: 87,240,295 (GRCm39)	P30L	probably damaging	Het
Vipr1	C	A	9: 121,498,518 (GRCm39)	P423T	probably damaging	Het
Vps13a	T	C	19: 16,625,066 (GRCm39)	E2731G	probably benign	Het
Zfp451	A	T	1: 33,801,248 (GRCm39)	M1056K	possibly damaging	Het

Other mutations in Spata3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01632:Spata3	APN	1	85,950,030 (GRCm39)	missense	possibly damaging	0.51
IGL02553:Spata3	APN	1	85,952,211 (GRCm39)	missense	probably damaging	1.00
IGL02736:Spata3	APN	1	85,952,157 (GRCm39)	missense	probably damaging	0.98
PIT4696001:Spata3	UTSW	1	85,952,169 (GRCm39)	missense	unknown
R1930:Spata3	UTSW	1	85,949,783 (GRCm39)	intron	probably benign
R1931:Spata3	UTSW	1	85,949,783 (GRCm39)	intron	probably benign
R4472:Spata3	UTSW	1	85,954,152 (GRCm39)	missense	probably benign	0.05
R4579:Spata3	UTSW	1	85,954,175 (GRCm39)	missense	probably damaging	0.97
R4824:Spata3	UTSW	1	85,952,048 (GRCm39)	critical splice acceptor site	probably null
R7823:Spata3	UTSW	1	85,949,781 (GRCm39)	intron	probably benign
R8062:Spata3	UTSW	1	85,952,148 (GRCm39)	missense	unknown
R8124:Spata3	UTSW	1	85,952,075 (GRCm39)	missense	unknown
R8125:Spata3	UTSW	1	85,952,075 (GRCm39)	missense	unknown
R8126:Spata3	UTSW	1	85,952,075 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAAAGATGTCCCACTGATGCC -3'
(R):5'- AACCAGATCTGAGGACCGAG -3'

Sequencing Primer
(F):5'- TGATGCCCTACAACACCTGCTAG -3'
(R):5'- GGAACTCTACACCCAAGGCTTTTTAG -3'

Posted On

2020-06-30