Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Slfn3'

661170

Institutional Source

Beutler Lab

Gene Symbol

Slfn3

Ensembl Gene

ENSMUSG00000018986

Gene Name

schlafen 3

Synonyms

MMRRC Submission

068526-MU

Accession Numbers

MGI: 1329005

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83191330-83215154 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83212999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 232 (V232E)

Ref Sequence

ENSEMBL: ENSMUSP00000150425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019130] [ENSMUST00000214041]

AlphaFold

A0A1L1STQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000019130
AA Change: V109E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: V109E

Domain	Start	End	E-Value	Type
Pfam:AlbA_2	165	303	5.5e-11	PFAM
low complexity region	394	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214041
AA Change: V232E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (48/48)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit normal immune cell populations. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in Slfn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Slfn3	APN	11	83213431	missense	probably damaging	1.00
IGL01405:Slfn3	APN	11	83214716	missense	possibly damaging	0.90
IGL01631:Slfn3	APN	11	83213535	missense	probably damaging	0.99
IGL01944:Slfn3	APN	11	83213148	missense	possibly damaging	0.59
IGL02354:Slfn3	APN	11	83213242	missense	possibly damaging	0.95
IGL02361:Slfn3	APN	11	83213242	missense	possibly damaging	0.95
IGL02512:Slfn3	APN	11	83213025	missense	possibly damaging	0.55
IGL02875:Slfn3	APN	11	83213427	missense	probably damaging	0.98
IGL02944:Slfn3	APN	11	83213011	missense	probably damaging	0.99
IGL03402:Slfn3	APN	11	83213431	missense	probably damaging	1.00
R0452:Slfn3	UTSW	11	83213128	missense	possibly damaging	0.87
R0506:Slfn3	UTSW	11	83213160	missense	probably damaging	0.99
R0560:Slfn3	UTSW	11	83213152	missense	probably damaging	0.99
R0788:Slfn3	UTSW	11	83212836	missense	possibly damaging	0.47
R1602:Slfn3	UTSW	11	83212715	missense	probably damaging	1.00
R1713:Slfn3	UTSW	11	83213314	missense	probably damaging	0.98
R1881:Slfn3	UTSW	11	83213376	missense	possibly damaging	0.80
R2264:Slfn3	UTSW	11	83212972	missense	probably benign	0.00
R2441:Slfn3	UTSW	11	83212683	missense	probably benign	0.00
R2921:Slfn3	UTSW	11	83215045	missense	probably benign	0.01
R4163:Slfn3	UTSW	11	83212770	missense	probably damaging	1.00
R5099:Slfn3	UTSW	11	83214938	missense	probably damaging	0.98
R5448:Slfn3	UTSW	11	83214605	missense	probably damaging	0.99
R6441:Slfn3	UTSW	11	83214914	missense	probably benign	0.00
R6527:Slfn3	UTSW	11	83213106	missense	probably benign	0.01
R6785:Slfn3	UTSW	11	83214601	missense	possibly damaging	0.73
R7128:Slfn3	UTSW	11	83214895	missense	probably benign	0.00
R7344:Slfn3	UTSW	11	83212822	missense	probably benign	0.28
R7528:Slfn3	UTSW	11	83214905	missense	probably benign	0.01
R7763:Slfn3	UTSW	11	83214788	missense	possibly damaging	0.95
R8155:Slfn3	UTSW	11	83212785	missense	probably damaging	1.00
R8178:Slfn3	UTSW	11	83214679	missense	probably benign	0.33
R8210:Slfn3	UTSW	11	83214506	missense	possibly damaging	0.48
R8347:Slfn3	UTSW	11	83213589	missense	possibly damaging	0.95
R9093:Slfn3	UTSW	11	83213122	missense	probably damaging	0.99
R9106:Slfn3	UTSW	11	83212632	missense	probably benign	0.00
R9293:Slfn3	UTSW	11	83214790	missense	possibly damaging	0.85
R9362:Slfn3	UTSW	11	83212981	missense	probably benign
R9521:Slfn3	UTSW	11	83212999	missense	probably benign
R9522:Slfn3	UTSW	11	83212999	missense	probably benign
R9644:Slfn3	UTSW	11	83214902	missense	probably damaging	1.00
Z1176:Slfn3	UTSW	11	83213409	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCCGGTATCATGCACCTTC -3'
(R):5'- TTGAGGGAGGAGCTCTAAAATC -3'

Sequencing Primer
(F):5'- GGTATCATGCACCTTCCTCATGAC -3'
(R):5'- GAGGGAGGAGCTCTAAAATCTTTTCC -3'

Posted On

2021-03-08