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

A230104H11Rik, 2810022L02Rik

MMRRC Submission

039240-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57774162-57948394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57943111 bp (GRCm38)

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: 40,993,579	D315V	probably damaging	Het
4931440F15Rik	C	T	11: 29,823,567	R630H	probably damaging	Het
Acr	T	C	15: 89,573,974	I286T	probably damaging	Het
Adnp	A	G	2: 168,184,500	S292P	probably benign	Het
Apol6	T	A	15: 77,047,108	Y17*	probably null	Het
Arhgap22	A	G	14: 33,343,307		probably null	Het
Bfar	A	G	16: 13,698,894	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,859,304	S470C	probably damaging	Het
Cep135	A	G	5: 76,624,637	E623G	probably damaging	Het
Clcn3	A	G	8: 60,922,788		probably null	Het
Clptm1	A	T	7: 19,634,211	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,584,330	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,711,781		probably null	Het
Dst	A	G	1: 34,223,858	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,644,066	T238A	probably benign	Het
Elmo1	T	C	13: 20,185,455	V10A	probably damaging	Het
Ermp1	A	G	19: 29,628,679	S225P	possibly damaging	Het
Fes	A	T	7: 80,383,109	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,359,066	N544K	probably damaging	Het
Gga1	C	G	15: 78,888,170	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm4884	A	T	7: 41,043,912	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,843,380		probably benign	Het
Gm8882	G	A	6: 132,361,590	P222S	unknown	Het
Ift140	T	G	17: 25,035,745	S131A	probably benign	Het
Ipo4	A	G	14: 55,635,020	L88P	probably damaging	Het
Itgal	G	A	7: 127,300,939	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,564,952	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,235,337	M521L	probably benign	Het
Myocd	G	T	11: 65,196,377	D113E	possibly damaging	Het
Nek4	G	A	14: 30,974,345	R499H	possibly damaging	Het
Notch3	T	C	17: 32,122,745	D2011G	possibly damaging	Het
Ola1	A	G	2: 73,097,194	V347A	probably damaging	Het
Olfr1037	A	G	2: 86,085,291	V162A	probably benign	Het
Olfr1339	C	A	4: 118,734,632	F34L	possibly damaging	Het
Olfr790	G	A	10: 129,501,150	V89I	probably benign	Het
Oxct2b	A	G	4: 123,117,585	T433A	probably damaging	Het
P2ry14	T	C	3: 59,115,131	R312G	probably damaging	Het
Pbrm1	A	G	14: 31,050,142	N398D	probably damaging	Het
Pdc	T	C	1: 150,333,245	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pop4	A	T	7: 38,263,269	D190E	probably benign	Het
R3hdm4	A	G	10: 79,912,073		probably null	Het
Rab1a	C	A	11: 20,223,172	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,197,502	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,416,254	V84A	probably damaging	Het
Rftn2	G	A	1: 55,204,299	T270M	probably damaging	Het
Rho	A	G	6: 115,935,423	T100A	probably damaging	Het
Rnft2	T	C	5: 118,228,882	I264V	possibly damaging	Het
Robo3	A	T	9: 37,423,907	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705		probably null	Het
Rtkn2	T	C	10: 67,997,620	S98P	probably damaging	Het
Ryr2	A	G	13: 11,660,113	V3376A	possibly damaging	Het
Sbf2	A	T	7: 110,364,549	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,857,236	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,228,574	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,539,591	E40G	probably benign	Het
Slc8a2	A	G	7: 16,157,387	N784S	possibly damaging	Het
Steap4	A	C	5: 7,976,520	K161T	probably benign	Het
Taf10	T	C	7: 105,743,231	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,608,019	D148N	probably damaging	Het
Tenm2	T	G	11: 36,864,684	K162N	probably benign	Het
Tmem147	A	G	7: 30,727,796	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,837,086	S100P	possibly damaging	Het
Trim56	T	C	5: 137,112,520	Y714C	probably damaging	Het
Ubxn8	A	G	8: 33,641,901	S13P	probably damaging	Het
Usp49	A	G	17: 47,672,226	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,186,043	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,801,746	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,803,176	L134F	probably benign	Het
Wdfy3	T	A	5: 101,875,931	I2437F	probably benign	Het
Wwc2	A	T	8: 47,858,779	L783*	probably null	Het
Zer1	C	T	2: 30,108,246	R351H	probably benign	Het
Zfp715	A	T	7: 43,298,437	F700I	possibly damaging	Het
Zfp995	G	A	17: 21,879,979	H425Y	probably damaging	Het

Other mutations in Spats2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Spats2l	APN	1	57943072	missense	probably damaging	1.00
IGL00788:Spats2l	APN	1	57885705	missense	probably damaging	1.00
IGL01627:Spats2l	APN	1	57902082	splice site	probably benign
IGL01758:Spats2l	APN	1	57879556	missense	probably damaging	1.00
IGL03395:Spats2l	APN	1	57938016	missense	probably damaging	1.00
P0033:Spats2l	UTSW	1	57885838	missense	probably damaging	0.99
R0762:Spats2l	UTSW	1	57885884	missense	possibly damaging	0.88
R1486:Spats2l	UTSW	1	57900811	missense	probably damaging	0.99
R1564:Spats2l	UTSW	1	57946224	missense	probably damaging	1.00
R1938:Spats2l	UTSW	1	57885782	missense	probably benign	0.32
R2071:Spats2l	UTSW	1	57940464	missense	possibly damaging	0.90
R2096:Spats2l	UTSW	1	57946299	missense	probably benign	0.00
R2215:Spats2l	UTSW	1	57946416	missense	possibly damaging	0.82
R3053:Spats2l	UTSW	1	57900766	missense	probably damaging	1.00
R3784:Spats2l	UTSW	1	57885779	missense	probably damaging	0.99
R4814:Spats2l	UTSW	1	57937926	missense	possibly damaging	0.83
R4915:Spats2l	UTSW	1	57902188	missense	probably damaging	1.00
R4962:Spats2l	UTSW	1	57885824	missense	possibly damaging	0.88
R5022:Spats2l	UTSW	1	57879556	missense	probably damaging	1.00
R5068:Spats2l	UTSW	1	57943221	missense	probably benign
R5561:Spats2l	UTSW	1	57900621	splice site	probably null
R5773:Spats2l	UTSW	1	57879549	missense	possibly damaging	0.86
R5885:Spats2l	UTSW	1	57946162	missense	probably damaging	0.96
R6136:Spats2l	UTSW	1	57902143	missense	probably damaging	1.00
R6651:Spats2l	UTSW	1	57946177	missense	probably damaging	1.00
R6929:Spats2l	UTSW	1	57879536	missense	probably damaging	1.00
R7030:Spats2l	UTSW	1	57879530	missense	probably damaging	1.00
R7176:Spats2l	UTSW	1	57937918	missense	possibly damaging	0.89
R7274:Spats2l	UTSW	1	57879513	nonsense	probably null
R7342:Spats2l	UTSW	1	57885947	missense	possibly damaging	0.91
R7387:Spats2l	UTSW	1	57902134	missense	probably damaging	1.00
R7459:Spats2l	UTSW	1	57799353	splice site	probably benign
R9239:Spats2l	UTSW	1	57832098	start gained	probably benign
X0054:Spats2l	UTSW	1	57943243	critical splice donor site	probably null

Predicted Primers

Posted On

2014-01-15