Mutagenetix > Incidental Mutation

Incidental Mutation 'R7255:Spats1'

564232

Institutional Source

Beutler Lab

Gene Symbol

Spats1

Ensembl Gene

ENSMUSG00000023935

Gene Name

spermatogenesis associated, serine-rich 1

Synonyms

4933400B06Rik, Srsp1, 1700011H05Rik

MMRRC Submission

045316-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45448937-45474938 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45454205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 163 (D163V)

Ref Sequence

ENSEMBL: ENSMUSP00000024731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024731]

AlphaFold

A2RRY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000024731
AA Change: D163V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024731
Gene: ENSMUSG00000023935
AA Change: D163V

Domain	Start	End	E-Value	Type
Pfam:SASRP1	10	257	1.1e-140	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	A	11: 23,620,465 (GRCm38)	P145L	probably benign	Het
9530003J23Rik	T	C	10: 117,234,422 (GRCm38)	H150R	probably benign	Het
Aldh1a7	A	G	19: 20,714,728 (GRCm38)	S234P	probably damaging	Het
Arhgap28	T	C	17: 67,853,004 (GRCm38)	H650R	probably damaging	Het
Asic1	A	G	15: 99,697,457 (GRCm38)	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,556,868 (GRCm38)	S598C	probably damaging	Het
Bcat1	C	A	6: 145,032,785 (GRCm38)	E237*	probably null	Het
Btbd16	A	T	7: 130,785,992 (GRCm38)	I114F	probably benign	Het
Casp2	A	G	6: 42,268,907 (GRCm38)	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555 (GRCm38)		probably null	Het
Cpsf1	G	A	15: 76,597,543 (GRCm38)	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,130,231 (GRCm38)	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,160,165 (GRCm38)	I168T	probably damaging	Het
Dip2b	G	A	15: 100,209,627 (GRCm38)	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,551,573 (GRCm38)	K201R	probably benign	Het
Dock10	C	T	1: 80,543,099 (GRCm38)		probably null	Het
Dopey2	C	A	16: 93,770,146 (GRCm38)	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,097,273 (GRCm38)	R325Q	probably benign	Het
Enpp1	A	T	10: 24,645,315 (GRCm38)	I838K	possibly damaging	Het
Fcna	T	G	2: 25,626,028 (GRCm38)	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,766 (GRCm38)	G840C	probably damaging	Het
Flt1	C	T	5: 147,580,406 (GRCm38)	A1024T	probably damaging	Het
Galc	T	C	12: 98,246,255 (GRCm38)	K207R	probably null	Het
Gbp2b	T	A	3: 142,608,117 (GRCm38)	L386Q	probably damaging	Het
Gm8297	T	A	14: 4,984,874 (GRCm38)	N48K	probably damaging	Het
Gm9639	G	A	10: 77,794,538 (GRCm38)	P180L	unknown	Het
Inpp5a	A	G	7: 139,511,448 (GRCm38)	N116S	probably damaging	Het
Ipo9	T	C	1: 135,385,988 (GRCm38)	E984G	probably benign	Het
Klra4	A	G	6: 130,059,642 (GRCm38)	F145L	probably damaging	Het
Lag3	A	G	6: 124,910,235 (GRCm38)	L123P	probably benign	Het
Med7	T	A	11: 46,440,995 (GRCm38)	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,952,021 (GRCm38)	L153R	possibly damaging	Het
Mup9	A	G	4: 60,421,337 (GRCm38)	V71A	probably benign	Het
Myo16	A	T	8: 10,499,169 (GRCm38)	Q927L	unknown	Het
Myo9b	T	C	8: 71,290,891 (GRCm38)	Y199H	probably damaging	Het
Nefm	A	G	14: 68,116,000 (GRCm38)	F406L	probably benign	Het
Olfr1123	T	A	2: 87,418,942 (GRCm38)	L296Q	probably damaging	Het
Olfr1333	A	T	4: 118,829,952 (GRCm38)	F162I	probably benign	Het
Pamr1	T	C	2: 102,611,584 (GRCm38)	F173L	probably damaging	Het
Pds5b	T	A	5: 150,796,667 (GRCm38)	D1205E	probably benign	Het
Plxna2	T	G	1: 194,752,103 (GRCm38)	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045 (GRCm38)	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,761,391 (GRCm38)	F412S	probably benign	Het
Prcc	A	T	3: 87,870,091 (GRCm38)	V192E	probably damaging	Het
Psg19	A	G	7: 18,794,048 (GRCm38)	Y257H	probably benign	Het
Rfx7	T	G	9: 72,619,828 (GRCm38)	S1433R	possibly damaging	Het
Rgl2	T	C	17: 33,934,990 (GRCm38)	F457L	possibly damaging	Het
Sbspon	G	T	1: 15,883,797 (GRCm38)	C86*	probably null	Het
Sdhb	A	G	4: 140,977,418 (GRCm38)	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,125,336 (GRCm38)	T581A	probably benign	Het
Shkbp1	G	T	7: 27,342,748 (GRCm38)	T594K	possibly damaging	Het
Shpk	A	G	11: 73,199,660 (GRCm38)	S48G	probably benign	Het
Slc1a3	A	G	15: 8,642,999 (GRCm38)	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,421,372 (GRCm38)	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,909,631 (GRCm38)	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,569,325 (GRCm38)	T649A	probably benign	Het
Sorbs1	G	C	19: 40,376,800 (GRCm38)	R180G	probably benign	Het
Ssh2	T	A	11: 77,425,593 (GRCm38)	M304K	probably damaging	Het
Sulf1	T	A	1: 12,859,008 (GRCm38)	D166E	probably benign	Het
Syne1	A	G	10: 5,333,446 (GRCm38)	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,627,347 (GRCm38)		probably null	Het
Tet1	A	T	10: 62,822,636 (GRCm38)	M1477K	probably benign	Het
Tlr5	T	C	1: 182,974,316 (GRCm38)	F395S	probably damaging	Het
Trrap	T	C	5: 144,858,954 (GRCm38)	L3847P	probably damaging	Het
Tsks	C	T	7: 44,952,688 (GRCm38)	S276L	probably benign	Het
Uggt1	T	C	1: 36,146,106 (GRCm38)	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,654,339 (GRCm38)		probably null	Het
Wdfy4	A	G	14: 32,974,282 (GRCm38)	V2768A		Het
Wdr26	A	C	1: 181,181,324 (GRCm38)	I627R	probably benign	Het
Zfp160	T	A	17: 21,025,487 (GRCm38)	S100T	probably benign	Het

Other mutations in Spats1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Spats1	APN	17	45,454,085 (GRCm38)	splice site	probably null
IGL02014:Spats1	APN	17	45,461,240 (GRCm38)	missense	probably benign	0.01
IGL02547:Spats1	APN	17	45,474,817 (GRCm38)	utr 5 prime	probably benign
R3150:Spats1	UTSW	17	45,464,554 (GRCm38)	missense	probably damaging	1.00
R5229:Spats1	UTSW	17	45,466,133 (GRCm38)	intron	probably benign
R6406:Spats1	UTSW	17	45,457,265 (GRCm38)	missense	probably damaging	1.00
R6512:Spats1	UTSW	17	45,452,673 (GRCm38)	splice site	probably null
R7161:Spats1	UTSW	17	45,449,169 (GRCm38)	missense	probably benign	0.02
R7474:Spats1	UTSW	17	45,457,161 (GRCm38)	missense	possibly damaging	0.55
R7826:Spats1	UTSW	17	45,452,718 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTCCTGCATAAATAGGTGC -3'
(R):5'- TCTGAGAACACAGCATGGG -3'

Sequencing Primer
(F):5'- TAGGTGCTTTTAACACACACAGAC -3'
(R):5'- CACTGTCAGGTTGTTGCT -3'

Posted On

2019-06-26