Mutagenetix > Incidental Mutation

Incidental Mutation 'R3743:Spats2'

270471

Institutional Source

Beutler Lab

Gene Symbol

Spats2

Ensembl Gene

ENSMUSG00000051934

Gene Name

spermatogenesis associated, serine-rich 2

Synonyms

p59, 59kDa, 2700012F11Rik, Scr59

MMRRC Submission

040729-MU

Accession Numbers

Essential gene?

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

Stock #

R3743 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99023797-99111096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99108795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 382 (S382P)

Ref Sequence

ENSEMBL: ENSMUSP00000070549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063517]

AlphaFold

Q8K1N4

Predicted Effect

probably benign
Transcript: ENSMUST00000063517
AA Change: S382P

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: S382P

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: ENSMUST00000229493

Meta Mutation Damage Score

0.0674

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	G	4: 137,182,348 (GRCm39)	R168G	probably damaging	Het
1700030K09Rik	A	G	8: 73,199,013 (GRCm39)	H140R	probably benign	Het
Adamts10	A	G	17: 33,747,686 (GRCm39)	I41V	probably damaging	Het
Arnt	T	C	3: 95,382,016 (GRCm39)	V198A	possibly damaging	Het
Atg3	A	G	16: 44,998,591 (GRCm39)		probably null	Het
Atmin	T	C	8: 117,683,312 (GRCm39)	V324A	probably benign	Het
Ccdc88c	G	A	12: 100,914,843 (GRCm39)	R464C	probably damaging	Het
Ccr7	G	T	11: 99,036,033 (GRCm39)	S296R	possibly damaging	Het
Cdh12	T	A	15: 21,537,745 (GRCm39)	S415R	probably damaging	Het
Cep162	A	T	9: 87,099,230 (GRCm39)		probably benign	Het
Chd3	G	A	11: 69,254,876 (GRCm39)	R61*	probably null	Het
Cr2	A	G	1: 194,832,274 (GRCm39)		probably benign	Het
Csf1r	T	C	18: 61,247,846 (GRCm39)	S305P	probably benign	Het
Cyp4a31	A	C	4: 115,423,716 (GRCm39)	Q140P	possibly damaging	Het
Dhx40	A	T	11: 86,661,985 (GRCm39)	W691R	probably damaging	Het
Dlgap1	G	A	17: 71,025,221 (GRCm39)		probably null	Het
Entr1	A	G	2: 26,278,655 (GRCm39)		probably benign	Het
Exoc5	T	C	14: 49,251,806 (GRCm39)	I582V	probably benign	Het
Exoc5	A	T	14: 49,270,864 (GRCm39)	L387*	probably null	Het
Fbxw8	A	G	5: 118,251,704 (GRCm39)	S270P	probably damaging	Het
Fgf14	C	A	14: 124,914,032 (GRCm39)	G33V	probably benign	Het
Hoxd9	T	A	2: 74,528,710 (GRCm39)	V104E	probably damaging	Het
Igsf10	T	C	3: 59,233,546 (GRCm39)	H1729R	possibly damaging	Het
Irf8	C	T	8: 121,480,310 (GRCm39)	R274C	probably damaging	Het
Itgb4	G	A	11: 115,894,496 (GRCm39)	M1350I	probably damaging	Het
Lrrn4	A	G	2: 132,711,786 (GRCm39)		probably null	Het
Map3k6	C	T	4: 132,972,384 (GRCm39)	T320I	probably benign	Het
Morc2a	A	G	11: 3,633,700 (GRCm39)	E604G	possibly damaging	Het
Mtmr6	T	C	14: 60,537,747 (GRCm39)	I582T	probably benign	Het
Ninl	A	G	2: 150,792,168 (GRCm39)	V785A	probably benign	Het
Obscn	T	C	11: 58,969,911 (GRCm39)	E77G	probably damaging	Het
Or2b11	T	C	11: 59,462,335 (GRCm39)	Y77C	probably damaging	Het
Or2n1	T	G	17: 38,486,793 (GRCm39)	F273V	probably damaging	Het
Or4f61	A	G	2: 111,922,965 (GRCm39)	L27P	probably benign	Het
Pcdhb2	A	G	18: 37,429,470 (GRCm39)	D124G	probably damaging	Het
Pfkl	G	A	10: 77,832,179 (GRCm39)	T304M	probably damaging	Het
Ppil4	T	A	10: 7,696,935 (GRCm39)	S483T	unknown	Het
Slc7a10	C	T	7: 34,898,325 (GRCm39)	T332I	probably damaging	Het
Stpg1	T	A	4: 135,242,197 (GRCm39)	D70E	probably benign	Het
Tmprss11e	G	A	5: 86,857,315 (GRCm39)	Q333*	probably null	Het
Trpv1	A	T	11: 73,145,128 (GRCm39)	D430V	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Zc3h6	A	G	2: 128,839,712 (GRCm39)	Y175C	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
R1577:Spats2	UTSW	15	99,076,333 (GRCm39)	missense	possibly damaging	0.94
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
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'- GTTCTGGACCTTACAGCCCATG -3'
(R):5'- AATGCCAACAACTCGGGTCG -3'

Sequencing Primer
(F):5'- ATGGCCAGGCTTGTGCAG -3'
(R):5'- TCTTCCATGGCACGCTCAGAG -3'

Posted On

2015-03-18