Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Spats2l'

573139

Institutional Source

Beutler Lab

Gene Symbol

Spats2l

Ensembl Gene

ENSMUSG00000038305

Gene Name

spermatogenesis associated, serine-rich 2-like

Synonyms

2810022L02Rik, A230104H11Rik

MMRRC Submission

045469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57813321-57987553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57941293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 253 (V253A)

Ref Sequence

ENSEMBL: ENSMUSP00000133054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163239] [ENSMUST00000164302] [ENSMUST00000167085] [ENSMUST00000169772] [ENSMUST00000170139] [ENSMUST00000171699] [ENSMUST00000172068]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000163239
AA Change: V126A

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

SMART Domains

Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305
AA Change: V126A

Domain	Start	End	E-Value	Type
Pfam:DUF1387	1	261	9.7e-124	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164302
AA Change: V164A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: V164A

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	149	3.6e-25	PFAM
Pfam:DUF1387	146	299	1.6e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167085
AA Change: V253A

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

SMART Domains

Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: V253A

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	388	1.8e-130	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169772
AA Change: V233A

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

SMART Domains

Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: V233A

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	368	5.6e-139	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170139
AA Change: V233A

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

SMART Domains

Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: V233A

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	368	5.6e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171699
AA Change: V184A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: V184A

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	169	1.2e-25	PFAM
Pfam:DUF1387	167	270	2e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172068

SMART Domains

Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	244	5e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,774 (GRCm39)	Y182H	probably damaging	Het
Abca6	A	G	11: 110,093,246 (GRCm39)	V1009A	probably benign	Het
Abcg2	A	T	6: 58,666,609 (GRCm39)	I573F	possibly damaging	Het
Adck1	A	G	12: 88,427,822 (GRCm39)	T480A	probably benign	Het
Adcy5	T	C	16: 35,092,460 (GRCm39)	I607T	probably damaging	Het
Add2	A	G	6: 86,062,997 (GRCm39)	K52E	probably damaging	Het
Arid4a	T	A	12: 71,134,270 (GRCm39)	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,305,198 (GRCm39)	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,589,034 (GRCm39)	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,520,741 (GRCm39)	L224P	possibly damaging	Het
BC035947	A	G	1: 78,475,098 (GRCm39)	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,634,375 (GRCm39)	V17A	unknown	Het
Cad	T	C	5: 31,219,284 (GRCm39)	Y669H	probably damaging	Het
Ccdc110	A	T	8: 46,395,233 (GRCm39)	M375L	probably benign	Het
Cdc6	C	T	11: 98,799,042 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,874,111 (GRCm39)	Y72*	probably null	Het
Cenpe	T	G	3: 134,952,798 (GRCm39)	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,899,016 (GRCm39)	C28W	possibly damaging	Het
Cma2	A	G	14: 56,210,505 (GRCm39)	N120S	probably benign	Het
Cped1	A	T	6: 22,059,933 (GRCm39)	I200L	probably benign	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,189,595 (GRCm39)	Q18*	probably null	Het
Dpp10	T	C	1: 123,268,869 (GRCm39)	E720G	probably benign	Het
Dus2	G	A	8: 106,772,619 (GRCm39)	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932 (GRCm39)	N769S	possibly damaging	Het
Ece1	T	A	4: 137,666,095 (GRCm39)	I313N	possibly damaging	Het
Ern1	A	T	11: 106,312,778 (GRCm39)	V201E	probably damaging	Het
Exoc3l	A	G	8: 106,021,605 (GRCm39)	L141P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fez1	T	C	9: 36,779,108 (GRCm39)	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,357,101 (GRCm39)	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,533,207 (GRCm39)	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,878,488 (GRCm39)	P28S	probably benign	Het
Inka1	C	T	9: 107,861,626 (GRCm39)	R230H	probably damaging	Het
Iqgap1	C	T	7: 80,370,738 (GRCm39)	V1544I	probably benign	Het
Itga10	A	T	3: 96,560,094 (GRCm39)	Q536L	probably benign	Het
Itih2	C	T	2: 10,135,319 (GRCm39)	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,689,781 (GRCm39)	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,777 (GRCm39)	S160R	probably benign	Het
Kif11	T	A	19: 37,398,204 (GRCm39)	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,301,828 (GRCm39)	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,306,959 (GRCm39)	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,346,025 (GRCm39)	T426A	probably damaging	Het
Mcidas	T	C	13: 113,130,622 (GRCm39)	F40L	probably benign	Het
Med27	T	A	2: 29,303,419 (GRCm39)	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,023,364 (GRCm39)	V249A	probably benign	Het
Mllt6	C	A	11: 97,565,426 (GRCm39)	A592D	probably benign	Het
Mrps5	C	T	2: 127,442,804 (GRCm39)	T291I	probably damaging	Het
Muc16	T	A	9: 18,553,016 (GRCm39)	T4426S	probably benign	Het
Myh1	A	T	11: 67,099,715 (GRCm39)	M542L	probably benign	Het
Nlrp12	G	T	7: 3,289,831 (GRCm39)	A227D	probably damaging	Het
Nlrp14	T	C	7: 106,782,314 (GRCm39)	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,086,442 (GRCm39)	S8G	probably benign	Het
Ntrk2	A	G	13: 59,133,793 (GRCm39)	K524R	probably damaging	Het
Nup210	C	T	6: 90,998,378 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	T	A	2: 88,356,744 (GRCm39)	Y272*	probably null	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5h27	A	T	16: 59,006,699 (GRCm39)	I49N	probably damaging	Het
Patl1	A	G	19: 11,911,094 (GRCm39)	I525M	probably benign	Het
Pcnx3	A	G	19: 5,723,364 (GRCm39)	L1277P	probably benign	Het
Pelp1	G	A	11: 70,287,425 (GRCm39)	T461I	probably damaging	Het
Phf20	T	C	2: 156,136,160 (GRCm39)	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,851,203 (GRCm39)	Y1193F		Het
Pknox2	G	T	9: 36,868,364 (GRCm39)		probably benign	Het
Pml	T	C	9: 58,137,177 (GRCm39)	T541A	probably benign	Het
Prss35	C	T	9: 86,637,974 (GRCm39)	T248I	probably damaging	Het
Rccd1	T	A	7: 79,970,350 (GRCm39)	N89I	probably benign	Het
Rcor3	T	C	1: 191,821,824 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,131,040 (GRCm39)	E16G	unknown	Het
Scgb2b12	T	A	7: 32,026,060 (GRCm39)	H44L	probably benign	Het
Sec23ip	C	T	7: 128,346,727 (GRCm39)		probably benign	Het
Sgsm1	A	C	5: 113,411,566 (GRCm39)	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841 (GRCm39)	F116L	possibly damaging	Het
Spopl	A	T	2: 23,427,521 (GRCm39)	F204I	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stil	T	G	4: 114,881,233 (GRCm39)	H592Q	probably benign	Het
Strip1	T	A	3: 107,533,046 (GRCm39)	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,530,275 (GRCm39)	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,447,180 (GRCm39)		probably null	Het
Tmem184c	A	T	8: 78,324,559 (GRCm39)	Y310*	probably null	Het
Tmem30c	T	C	16: 57,090,386 (GRCm39)	N274D	probably benign	Het
Trim30c	T	A	7: 104,039,397 (GRCm39)	I133F	probably damaging	Het
Vars1	C	T	17: 35,223,768 (GRCm39)	Q228*	probably null	Het
Zdbf2	G	A	1: 63,343,198 (GRCm39)	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,262,065 (GRCm39)		probably null	Het

Other mutations in Spats2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Spats2l	APN	1	57,982,231 (GRCm39)	missense	probably damaging	1.00
IGL00788:Spats2l	APN	1	57,924,864 (GRCm39)	missense	probably damaging	1.00
IGL01627:Spats2l	APN	1	57,941,241 (GRCm39)	splice site	probably benign
IGL01758:Spats2l	APN	1	57,918,715 (GRCm39)	missense	probably damaging	1.00
IGL03395:Spats2l	APN	1	57,977,175 (GRCm39)	missense	probably damaging	1.00
P0033:Spats2l	UTSW	1	57,924,997 (GRCm39)	missense	probably damaging	0.99
R0762:Spats2l	UTSW	1	57,925,043 (GRCm39)	missense	possibly damaging	0.88
R1167:Spats2l	UTSW	1	57,982,270 (GRCm39)	missense	probably damaging	1.00
R1486:Spats2l	UTSW	1	57,939,970 (GRCm39)	missense	probably damaging	0.99
R1564:Spats2l	UTSW	1	57,985,383 (GRCm39)	missense	probably damaging	1.00
R1938:Spats2l	UTSW	1	57,924,941 (GRCm39)	missense	probably benign	0.32
R2071:Spats2l	UTSW	1	57,979,623 (GRCm39)	missense	possibly damaging	0.90
R2096:Spats2l	UTSW	1	57,985,458 (GRCm39)	missense	probably benign	0.00
R2215:Spats2l	UTSW	1	57,985,575 (GRCm39)	missense	possibly damaging	0.82
R3053:Spats2l	UTSW	1	57,939,925 (GRCm39)	missense	probably damaging	1.00
R3784:Spats2l	UTSW	1	57,924,938 (GRCm39)	missense	probably damaging	0.99
R4814:Spats2l	UTSW	1	57,977,085 (GRCm39)	missense	possibly damaging	0.83
R4915:Spats2l	UTSW	1	57,941,347 (GRCm39)	missense	probably damaging	1.00
R4962:Spats2l	UTSW	1	57,924,983 (GRCm39)	missense	possibly damaging	0.88
R5022:Spats2l	UTSW	1	57,918,715 (GRCm39)	missense	probably damaging	1.00
R5068:Spats2l	UTSW	1	57,982,380 (GRCm39)	missense	probably benign
R5561:Spats2l	UTSW	1	57,939,780 (GRCm39)	splice site	probably null
R5773:Spats2l	UTSW	1	57,918,708 (GRCm39)	missense	possibly damaging	0.86
R5885:Spats2l	UTSW	1	57,985,321 (GRCm39)	missense	probably damaging	0.96
R6136:Spats2l	UTSW	1	57,941,302 (GRCm39)	missense	probably damaging	1.00
R6651:Spats2l	UTSW	1	57,985,336 (GRCm39)	missense	probably damaging	1.00
R6929:Spats2l	UTSW	1	57,918,695 (GRCm39)	missense	probably damaging	1.00
R7030:Spats2l	UTSW	1	57,918,689 (GRCm39)	missense	probably damaging	1.00
R7176:Spats2l	UTSW	1	57,977,077 (GRCm39)	missense	possibly damaging	0.89
R7274:Spats2l	UTSW	1	57,918,672 (GRCm39)	nonsense	probably null
R7342:Spats2l	UTSW	1	57,925,106 (GRCm39)	missense	possibly damaging	0.91
R7459:Spats2l	UTSW	1	57,838,512 (GRCm39)	splice site	probably benign
R9239:Spats2l	UTSW	1	57,871,257 (GRCm39)	start gained	probably benign
X0054:Spats2l	UTSW	1	57,982,402 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCGGTCTAAACAACCCATC -3'
(R):5'- CCTGCCTGCAGAACTTTACAAAAG -3'

Sequencing Primer
(F):5'- ACCCATCCCCTCTTAACAGTG -3'
(R):5'- GAGAGAGATCACTGCTCTGTG -3'

Posted On

2019-09-13