Mutagenetix > Incidental Mutation

Incidental Mutation 'R4420:Spata2l'

327053

Institutional Source

Beutler Lab

Gene Symbol

Spata2l

Ensembl Gene

ENSMUSG00000033594

Gene Name

spermatogenesis associated 2-like

Synonyms

2610039E05Rik

MMRRC Submission

041141-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123958994-123962997 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123960768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 174 (T174A)

Ref Sequence

ENSEMBL: ENSMUSP00000130306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036880] [ENSMUST00000098327] [ENSMUST00000127664] [ENSMUST00000166768] [ENSMUST00000212193] [ENSMUST00000212361] [ENSMUST00000212818] [ENSMUST00000213005]

AlphaFold

Q8BNN1

Predicted Effect

probably benign
Transcript: ENSMUST00000036880

SMART Domains

Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862

Domain	Start	End	E-Value	Type
S_TKc	39	323	1.52e-87	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098327
AA Change: T174A

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594
AA Change: T174A

Domain	Start	End	E-Value	Type
low complexity region	74	91	N/A	INTRINSIC
low complexity region	209	214	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
low complexity region	309	318	N/A	INTRINSIC
low complexity region	340	347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166768
AA Change: T174A

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594
AA Change: T174A

Domain	Start	End	E-Value	Type
low complexity region	74	91	N/A	INTRINSIC
low complexity region	209	214	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
low complexity region	309	318	N/A	INTRINSIC
low complexity region	340	347	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212904

Predicted Effect

probably benign
Transcript: ENSMUST00000212193

Predicted Effect

probably benign
Transcript: ENSMUST00000212361

Predicted Effect

probably benign
Transcript: ENSMUST00000212818

Predicted Effect

probably benign
Transcript: ENSMUST00000213005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212532

Meta Mutation Damage Score

0.0980

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef17	G	A	7: 100,531,515 (GRCm39)		probably benign	Het
Atp1b1	T	C	1: 164,281,127 (GRCm39)	T53A	probably damaging	Het
Carmil3	A	G	14: 55,731,045 (GRCm39)	Q104R	probably damaging	Het
Casz1	T	G	4: 149,033,375 (GRCm39)	N1382K	possibly damaging	Het
Chfr	T	A	5: 110,318,746 (GRCm39)	C585*	probably null	Het
Chp2	T	C	7: 121,821,161 (GRCm39)	F174S	probably damaging	Het
Dclre1c	A	T	2: 3,434,782 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,168,462 (GRCm39)	V487A	probably benign	Het
Dnah9	T	C	11: 66,009,575 (GRCm39)	R771G	probably benign	Het
Duox1	G	A	2: 122,157,607 (GRCm39)	A578T	probably benign	Het
Elp3	G	A	14: 65,818,240 (GRCm39)	A140V	probably damaging	Het
Fbrsl1	T	C	5: 110,526,852 (GRCm39)	H387R	possibly damaging	Het
Gnat3	T	C	5: 18,204,799 (GRCm39)	S151P	probably damaging	Het
Gucy1a2	T	A	9: 3,634,640 (GRCm39)	L228H	probably damaging	Het
Gzmn	A	T	14: 56,403,463 (GRCm39)	H215Q	probably benign	Het
Heg1	A	T	16: 33,547,805 (GRCm39)	E864V	probably benign	Het
Hoxb9	T	C	11: 96,162,807 (GRCm39)	V147A	probably benign	Het
Hsf5	T	G	11: 87,548,130 (GRCm39)	H604Q	probably benign	Het
Hus1	T	C	11: 8,950,133 (GRCm39)	E196G	probably damaging	Het
Il12rb2	G	T	6: 67,293,394 (GRCm39)		probably null	Het
Irs1	T	C	1: 82,266,171 (GRCm39)	S682G	possibly damaging	Het
Jcad	T	C	18: 4,676,032 (GRCm39)	S1265P	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Matk	A	G	10: 81,098,291 (GRCm39)	S361G	possibly damaging	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Nceh1	A	G	3: 27,295,798 (GRCm39)	D353G	probably damaging	Het
Nqo1	C	T	8: 108,118,749 (GRCm39)		probably null	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Pcdh7	T	C	5: 58,286,512 (GRCm39)	I1196T	probably benign	Het
Pla2g4d	A	G	2: 120,114,644 (GRCm39)	V29A	probably benign	Het
Ppfibp1	T	A	6: 146,927,736 (GRCm39)	Y794*	probably null	Het
Prdx5	C	A	19: 6,885,332 (GRCm39)		probably null	Het
Psme4	C	T	11: 30,762,028 (GRCm39)	T456I	possibly damaging	Het
Ptprd	A	T	4: 75,957,614 (GRCm39)	S923R	possibly damaging	Het
Samd12	G	A	15: 53,723,655 (GRCm39)	R13W	probably damaging	Het
Slc35f4	A	T	14: 49,551,034 (GRCm39)		probably benign	Het
Smc1b	A	G	15: 84,997,031 (GRCm39)	Y530H	probably damaging	Het
Sugct	C	T	13: 17,627,130 (GRCm39)	C241Y	probably damaging	Het
Tarbp1	G	T	8: 127,173,819 (GRCm39)	A965D	possibly damaging	Het
Tas1r3	A	G	4: 155,946,789 (GRCm39)	V272A	probably damaging	Het
Tas2r117	T	A	6: 132,780,312 (GRCm39)	L150*	probably null	Het
Trip10	C	T	17: 57,562,448 (GRCm39)	P322L	probably benign	Het
Wdfy3	A	C	5: 102,058,850 (GRCm39)	H1487Q	probably damaging	Het
Wdr95	G	A	5: 149,456,131 (GRCm39)	V8M	probably damaging	Het
Zc3h15	C	A	2: 83,488,356 (GRCm39)	A98E	probably damaging	Het
Zfp763	T	G	17: 33,237,455 (GRCm39)	K563N	probably benign	Het
Zmym2	G	A	14: 57,194,335 (GRCm39)	D1198N	probably damaging	Het
Zp1	C	T	19: 10,892,124 (GRCm39)		probably null	Het

Other mutations in Spata2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Spata2l	APN	8	123,960,716 (GRCm39)	missense	possibly damaging	0.79
IGL01764:Spata2l	APN	8	123,960,914 (GRCm39)	missense	probably benign	0.16
IGL02145:Spata2l	APN	8	123,960,770 (GRCm39)	missense	possibly damaging	0.83
IGL03145:Spata2l	APN	8	123,960,075 (GRCm39)	missense	possibly damaging	0.73
R0333:Spata2l	UTSW	8	123,960,371 (GRCm39)	missense	probably damaging	1.00
R1351:Spata2l	UTSW	8	123,960,072 (GRCm39)	missense	probably damaging	1.00
R1647:Spata2l	UTSW	8	123,960,041 (GRCm39)	missense	probably benign
R5161:Spata2l	UTSW	8	123,962,288 (GRCm39)	missense	probably damaging	1.00
R5770:Spata2l	UTSW	8	123,962,459 (GRCm39)	missense	probably damaging	0.98
R6668:Spata2l	UTSW	8	123,960,167 (GRCm39)	missense	probably damaging	1.00
R6885:Spata2l	UTSW	8	123,962,297 (GRCm39)	missense	probably damaging	1.00
R8513:Spata2l	UTSW	8	123,960,438 (GRCm39)	missense	probably benign
R9310:Spata2l	UTSW	8	123,960,873 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CATACAGACTGGCCTCTGAG -3'
(R):5'- ATGTGCTGAAGGGTGTACTC -3'

Sequencing Primer
(F):5'- ATCTTCCTGCAGGTCCTGATACAG -3'
(R):5'- GTGTACTCTCTGAGGAGCTCC -3'

Posted On

2015-07-07