Mutagenetix > Incidental Mutation

Incidental Mutation 'R8124:Spata3'

631629

Institutional Source

Beutler Lab

Gene Symbol

Spata3

Ensembl Gene

ENSMUSG00000026226

Gene Name

spermatogenesis associated 3

Synonyms

1700011N12Rik, 4930424D10Rik, 1700029H01Rik, TSARG1

MMRRC Submission

067553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8124 (G1)

Quality Score

225.009

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: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,683,128 (GRCm39)	I320N	probably benign	Het
Ahnak	G	A	19: 8,984,487 (GRCm39)	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,178,757 (GRCm39)	R141H	probably benign	Het
Atf7ip2	T	C	16: 10,026,999 (GRCm39)	V89A	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Dab2	T	A	15: 6,458,878 (GRCm39)	C263*	probably null	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Ddx60	C	T	8: 62,436,945 (GRCm39)	A965V	probably benign	Het
Dennd5a	A	T	7: 109,497,142 (GRCm39)	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,623,099 (GRCm39)		probably benign	Het
Epg5	G	A	18: 78,008,211 (GRCm39)	A780T	probably benign	Het
Etl4	A	G	2: 20,811,451 (GRCm39)	D1546G	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
F13a1	T	C	13: 37,209,779 (GRCm39)	K62R	probably damaging	Het
Gm2832	T	C	14: 41,000,894 (GRCm39)	M44T		Het
Gm9195	T	C	14: 72,680,063 (GRCm39)	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,290,136 (GRCm39)	V2323A	probably benign	Het
Ice2	T	A	9: 69,307,777 (GRCm39)	N20K	probably damaging	Het
Klf15	T	C	6: 90,443,863 (GRCm39)	F146S	probably damaging	Het
Lgi3	A	G	14: 70,772,178 (GRCm39)	Y241C	probably damaging	Het
Lig4	A	T	8: 10,022,954 (GRCm39)	D275E	probably damaging	Het
Lrit1	T	A	14: 36,784,005 (GRCm39)	S444R	probably benign	Het
Lrrc37	A	G	11: 103,511,257 (GRCm39)	V237A	unknown	Het
Mip	T	C	10: 128,062,070 (GRCm39)	V107A	possibly damaging	Het
Mtrex	A	C	13: 113,063,871 (GRCm39)	D7E	probably benign	Het
Myo15a	G	A	11: 60,398,279 (GRCm39)	V1581M		Het
Nckap1l	A	G	15: 103,382,248 (GRCm39)	D481G	possibly damaging	Het
Obox3	A	T	7: 15,323,874 (GRCm39)		probably null	Het
Or11h4	C	T	14: 50,973,743 (GRCm39)	R292H	probably benign	Het
Or2d3	G	A	7: 106,491,088 (GRCm39)	T76I	possibly damaging	Het
Or5a21	T	A	19: 12,310,834 (GRCm39)	N129Y	probably damaging	Het
Or5p1	C	A	7: 107,916,984 (GRCm39)	N294K	possibly damaging	Het
Or8g27	T	C	9: 39,128,967 (GRCm39)	F105L	probably benign	Het
Pilrb2	T	A	5: 137,869,306 (GRCm39)	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,257,775 (GRCm39)	V1053A	probably benign	Het
Prdm2	A	T	4: 142,861,835 (GRCm39)	V485E	probably damaging	Het
Riox2	G	A	16: 59,306,954 (GRCm39)	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,549,228 (GRCm39)	V379E	possibly damaging	Het
Slc4a7	G	A	14: 14,729,211 (GRCm38)	E20K	possibly damaging	Het
Sned1	G	A	1: 93,210,711 (GRCm39)		probably null	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tent4a	G	A	13: 69,681,716 (GRCm39)		probably benign	Het
Tmem132d	T	C	5: 127,869,624 (GRCm39)	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,222,676 (GRCm39)	T168A	probably benign	Het
Trank1	A	G	9: 111,207,995 (GRCm39)	R1747G	probably benign	Het
Txk	C	T	5: 72,860,606 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,852,373 (GRCm39)	L862F	possibly damaging	Het
Wdr64	A	T	1: 175,626,844 (GRCm39)		probably null	Het
Zfp106	G	T	2: 120,354,812 (GRCm39)	Q1343K	probably benign	Het
Zfp719	A	G	7: 43,239,314 (GRCm39)	T301A	probably benign	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
R8123: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'- CTGATGCCCTACAACACCTG -3'
(R):5'- ACAGTTGCCAACCAGATCTG -3'

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

Posted On

2020-06-30