Mutagenetix > Incidental Mutation

Incidental Mutation 'R1577:Spats2'

171246

Institutional Source

Beutler Lab

Gene Symbol

Spats2

Ensembl Gene

ENSMUSG00000051934

Gene Name

spermatogenesis associated, serine-rich 2

Synonyms

p59, 59kDa, 2700012F11Rik, Scr59

MMRRC Submission

039615-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R1577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99023797-99111096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99076333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 137 (I137N)

Ref Sequence

ENSEMBL: ENSMUSP00000070549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063517] [ENSMUST00000229066] [ENSMUST00000229073] [ENSMUST00000229147] [ENSMUST00000229663] [ENSMUST00000230628]

AlphaFold

Q8K1N4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063517
AA Change: I137N

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: I137N

Domain	Start	End	E-Value	Type
Pfam:DUF1387	81	385	8.1e-125	PFAM
low complexity region	391	413	N/A	INTRINSIC
low complexity region	517	528	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157366

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229066
AA Change: I106N

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229073
AA Change: I106N

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229147
AA Change: I137N

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229493

Predicted Effect

probably benign
Transcript: ENSMUST00000229663

Predicted Effect

probably benign
Transcript: ENSMUST00000230628
AA Change: I137N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,133,264 (GRCm39)	N404S	possibly damaging	Het
Cep85	T	C	4: 133,879,599 (GRCm39)	E383G	probably damaging	Het
Chst4	A	T	8: 110,756,476 (GRCm39)	H379Q	probably benign	Het
Clca3b	A	T	3: 144,529,280 (GRCm39)	I798N	probably damaging	Het
Cldnd1	T	G	16: 58,553,016 (GRCm39)	L159R	possibly damaging	Het
Cntnap3	T	C	13: 64,906,104 (GRCm39)	E834G	probably damaging	Het
Col2a1	C	T	15: 97,877,083 (GRCm39)	R1065Q	probably damaging	Het
Dchs1	T	C	7: 105,415,162 (GRCm39)	D674G	probably damaging	Het
Dntt	A	G	19: 41,044,224 (GRCm39)	Y463C	probably damaging	Het
Egfr	A	G	11: 16,819,241 (GRCm39)	E257G	probably benign	Het
Eif4b	C	T	15: 101,998,336 (GRCm39)	R339*	probably null	Het
Fat1	C	T	8: 45,476,420 (GRCm39)	T1822M	probably benign	Het
Fgd3	T	C	13: 49,435,413 (GRCm39)	N282D	probably damaging	Het
Fmo4	T	C	1: 162,631,269 (GRCm39)	M233V	possibly damaging	Het
Gabbr2	T	A	4: 46,684,319 (GRCm39)	M652L	probably benign	Het
Gal3st2c	G	A	1: 93,934,650 (GRCm39)	V13M	probably damaging	Het
Gapvd1	C	T	2: 34,599,240 (GRCm39)	G686D	probably damaging	Het
Gdap1l1	T	G	2: 163,280,524 (GRCm39)	L20R	probably damaging	Het
Gm5800	A	T	14: 51,952,016 (GRCm39)	M82K	probably benign	Het
Grm6	T	A	11: 50,753,972 (GRCm39)	C759S	probably damaging	Het
Hs3st1	A	T	5: 39,772,393 (GRCm39)	D83E	probably benign	Het
Il12rb1	A	G	8: 71,263,250 (GRCm39)	D39G	probably damaging	Het
Ldhb	C	A	6: 142,438,324 (GRCm39)	K244N	possibly damaging	Het
Lypd6	C	T	2: 50,080,710 (GRCm39)	R133*	probably null	Het
Med13l	G	A	5: 118,859,457 (GRCm39)	G215S	probably damaging	Het
Ncoa1	T	C	12: 4,345,196 (GRCm39)	D606G	probably damaging	Het
Noc2l	C	T	4: 156,325,079 (GRCm39)	T151M	probably damaging	Het
Or10q3	T	C	19: 11,847,741 (GRCm39)	T280A	probably damaging	Het
Or2ag2	T	C	7: 106,485,217 (GRCm39)	K269R	probably benign	Het
Or2at4	T	C	7: 99,384,563 (GRCm39)	L71P	probably damaging	Het
Or2t26	T	A	11: 49,040,016 (GRCm39)	C311S	probably benign	Het
Or5aq1b	T	C	2: 86,901,741 (GRCm39)	T246A	probably benign	Het
Ppm1l	G	A	3: 69,460,403 (GRCm39)	G327R	probably damaging	Het
Rapgef5	C	T	12: 117,558,911 (GRCm39)	A282V	probably benign	Het
Rnf139	T	C	15: 58,771,367 (GRCm39)	V464A	probably damaging	Het
Rprd2	C	T	3: 95,672,047 (GRCm39)	E1119K	probably damaging	Het
Sipa1l2	G	A	8: 126,219,001 (GRCm39)	T112I	probably benign	Het
Skint6	T	C	4: 113,005,720 (GRCm39)	T363A	possibly damaging	Het
Slc22a16	G	T	10: 40,479,811 (GRCm39)	E607*	probably null	Het
Slc24a2	T	C	4: 86,909,648 (GRCm39)	Y690C	probably damaging	Het
Slc25a23	T	C	17: 57,354,306 (GRCm39)	S115G	probably benign	Het
Slc4a3	T	C	1: 75,527,535 (GRCm39)	L168P	probably damaging	Het
Stard4	A	T	18: 33,338,151 (GRCm39)	V133D	probably damaging	Het
Syn3	A	G	10: 86,284,728 (GRCm39)		probably null	Het
Tfpi	A	G	2: 84,263,447 (GRCm39)	I305T	probably damaging	Het
Tmtc1	T	A	6: 148,314,318 (GRCm39)		probably null	Het
Tpcn1	A	C	5: 120,682,485 (GRCm39)	W508G	probably damaging	Het
Ubr5	A	T	15: 38,030,974 (GRCm39)	N406K	possibly damaging	Het
Xrcc1	T	A	7: 24,265,052 (GRCm39)	L118*	probably null	Het
Zbtb5	T	C	4: 44,995,129 (GRCm39)	Y85C	probably damaging	Het
Zfand4	C	A	6: 116,306,373 (GRCm39)	Y735*	probably null	Het
Zfp180	G	T	7: 23,805,333 (GRCm39)	C584F	probably damaging	Het

Other mutations in Spats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Spats2	APN	15	99,078,474 (GRCm39)	missense	possibly damaging	0.88
IGL00696:Spats2	APN	15	99,108,775 (GRCm39)	missense	probably damaging	1.00
IGL01524:Spats2	APN	15	99,110,127 (GRCm39)	missense	probably benign	0.00
IGL02496:Spats2	APN	15	99,071,329 (GRCm39)	missense	probably damaging	1.00
IGL03031:Spats2	APN	15	99,078,569 (GRCm39)	missense	probably benign	0.00
R0067:Spats2	UTSW	15	99,110,168 (GRCm39)	missense	possibly damaging	0.64
R0067:Spats2	UTSW	15	99,110,168 (GRCm39)	missense	possibly damaging	0.64
R0630:Spats2	UTSW	15	99,083,909 (GRCm39)	splice site	probably null
R2012:Spats2	UTSW	15	99,076,375 (GRCm39)	missense	probably damaging	0.97
R2229:Spats2	UTSW	15	99,072,334 (GRCm39)	critical splice donor site	probably null
R2982:Spats2	UTSW	15	99,108,927 (GRCm39)	missense	probably benign
R3743:Spats2	UTSW	15	99,108,795 (GRCm39)	missense	probably benign	0.09
R4679:Spats2	UTSW	15	99,078,603 (GRCm39)	missense	possibly damaging	0.62
R4857:Spats2	UTSW	15	99,072,301 (GRCm39)	missense	probably damaging	1.00
R4962:Spats2	UTSW	15	99,110,157 (GRCm39)	missense	probably benign	0.00
R5291:Spats2	UTSW	15	99,076,422 (GRCm39)	missense	probably benign	0.16
R6879:Spats2	UTSW	15	99,071,293 (GRCm39)	missense	probably damaging	1.00
R7187:Spats2	UTSW	15	99,110,054 (GRCm39)	missense	probably benign	0.02
R7476:Spats2	UTSW	15	99,110,022 (GRCm39)	missense	probably benign	0.00
R8084:Spats2	UTSW	15	99,064,961 (GRCm39)	missense	possibly damaging	0.94
R8239:Spats2	UTSW	15	99,106,776 (GRCm39)	missense	probably damaging	1.00
R8338:Spats2	UTSW	15	99,076,340 (GRCm39)	missense	probably damaging	1.00
R8979:Spats2	UTSW	15	99,110,123 (GRCm39)	missense	possibly damaging	0.92
R9013:Spats2	UTSW	15	99,097,128 (GRCm39)	missense	probably damaging	1.00
R9050:Spats2	UTSW	15	99,110,010 (GRCm39)	missense	possibly damaging	0.78
R9433:Spats2	UTSW	15	99,076,446 (GRCm39)	nonsense	probably null
X0062:Spats2	UTSW	15	99,076,413 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGAATTGGTAACGCTGGCTTG -3'
(R):5'- AAGGCACCCCTCTGTTACACAATG -3'

Sequencing Primer
(F):5'- TTAGCTGGCATTGGCCTC -3'
(R):5'- CAGTATGAACTCTTCCATGCAG -3'

Posted On

2014-04-13