Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Spats2l'

101064

Institutional Source

Beutler Lab

Gene Symbol

Spats2l

Ensembl Gene

ENSMUSG00000038305

Gene Name

spermatogenesis associated, serine-rich 2-like

Synonyms

2810022L02Rik, A230104H11Rik

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

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

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57813321-57987553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57982270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 384 (Q384L)

Ref Sequence

ENSEMBL: ENSMUSP00000127598 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000163239
AA Change: Q277L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305
AA Change: Q277L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164302
AA Change: Q315L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: Q315L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164353

Predicted Effect

probably damaging
Transcript: ENSMUST00000167085
AA Change: Q404L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: Q404L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169772
AA Change: Q384L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: Q384L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170139
AA Change: Q384L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: Q384L

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,003 (GRCm39)	D315V	probably damaging	Het
Acr	T	C	15: 89,458,177 (GRCm39)	I286T	probably damaging	Het
Adnp	A	G	2: 168,026,420 (GRCm39)	S292P	probably benign	Het
Apol6	T	A	15: 76,931,308 (GRCm39)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,065,264 (GRCm39)		probably null	Het
Bfar	A	G	16: 13,516,758 (GRCm39)	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,898,463 (GRCm39)	S470C	probably damaging	Het
Cep135	A	G	5: 76,772,484 (GRCm39)	E623G	probably damaging	Het
Clcn3	A	G	8: 61,375,822 (GRCm39)		probably null	Het
Clptm1	A	T	7: 19,368,136 (GRCm39)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,561,312 (GRCm39)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,553,701 (GRCm39)		probably null	Het
Dst	A	G	1: 34,262,939 (GRCm39)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,245,795 (GRCm39)	T238A	probably benign	Het
Elmo1	T	C	13: 20,369,625 (GRCm39)	V10A	probably damaging	Het
Ermp1	A	G	19: 29,606,079 (GRCm39)	S225P	possibly damaging	Het
Fem1al	C	T	11: 29,773,567 (GRCm39)	R630H	probably damaging	Het
Fes	A	T	7: 80,032,857 (GRCm39)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,249,892 (GRCm39)	N544K	probably damaging	Het
Gga1	C	G	15: 78,772,370 (GRCm39)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm4884	A	T	7: 40,693,336 (GRCm39)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,727,581 (GRCm39)		probably benign	Het
Ift140	T	G	17: 25,254,719 (GRCm39)	S131A	probably benign	Het
Ipo4	A	G	14: 55,872,477 (GRCm39)	L88P	probably damaging	Het
Itgal	G	A	7: 126,900,111 (GRCm39)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,472,259 (GRCm39)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,285,337 (GRCm39)	M521L	probably benign	Het
Myocd	G	T	11: 65,087,203 (GRCm39)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,696,302 (GRCm39)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,341,719 (GRCm39)	D2011G	possibly damaging	Het
Ola1	A	G	2: 72,927,538 (GRCm39)	V347A	probably damaging	Het
Or13p5	C	A	4: 118,591,829 (GRCm39)	F34L	possibly damaging	Het
Or6c75	G	A	10: 129,337,019 (GRCm39)	V89I	probably benign	Het
Or8u10	A	G	2: 85,915,635 (GRCm39)	V162A	probably benign	Het
Oxct2b	A	G	4: 123,011,378 (GRCm39)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,022,552 (GRCm39)	R312G	probably damaging	Het
Pbrm1	A	G	14: 30,772,099 (GRCm39)	N398D	probably damaging	Het
Pdc	T	C	1: 150,208,996 (GRCm39)	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pop4	A	T	7: 37,962,693 (GRCm39)	D190E	probably benign	Het
Prb1c	G	A	6: 132,338,553 (GRCm39)	P222S	unknown	Het
R3hdm4	A	G	10: 79,747,907 (GRCm39)		probably null	Het
Rab1a	C	A	11: 20,173,172 (GRCm39)	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,247,501 (GRCm39)	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,252,159 (GRCm39)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,243,458 (GRCm39)	T270M	probably damaging	Het
Rho	A	G	6: 115,912,384 (GRCm39)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,366,947 (GRCm39)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,335,203 (GRCm39)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Rtkn2	T	C	10: 67,833,450 (GRCm39)	S98P	probably damaging	Het
Ryr2	A	G	13: 11,674,999 (GRCm39)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 109,963,756 (GRCm39)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,900,451 (GRCm39)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,058,918 (GRCm39)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,423,791 (GRCm39)	E40G	probably benign	Het
Slc8a2	A	G	7: 15,891,312 (GRCm39)	N784S	possibly damaging	Het
Steap4	A	C	5: 8,026,520 (GRCm39)	K161T	probably benign	Het
Taf10	T	C	7: 105,392,438 (GRCm39)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,845,455 (GRCm39)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,755,511 (GRCm39)	K162N	probably benign	Het
Tmem147	A	G	7: 30,427,221 (GRCm39)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,755,323 (GRCm39)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,141,374 (GRCm39)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 34,131,929 (GRCm39)	S13P	probably damaging	Het
Usp49	A	G	17: 47,983,151 (GRCm39)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,639,078 (GRCm39)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,450,954 (GRCm39)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,951,042 (GRCm39)	L134F	probably benign	Het
Wdfy3	T	A	5: 102,023,797 (GRCm39)	I2437F	probably benign	Het
Wwc2	A	T	8: 48,311,814 (GRCm39)	L783*	probably null	Het
Zer1	C	T	2: 29,998,258 (GRCm39)	R351H	probably benign	Het
Zfp715	A	T	7: 42,947,861 (GRCm39)	F700I	possibly damaging	Het
Zfp995	G	A	17: 22,098,960 (GRCm39)	H425Y	probably damaging	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
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
R7387:Spats2l	UTSW	1	57,941,293 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-15