Mutagenetix > Incidental Mutation

Incidental Mutation 'R6527:Slfn3'

522004

Institutional Source

Beutler Lab

Gene Symbol

Slfn3

Ensembl Gene

ENSMUSG00000018986

Gene Name

schlafen 3

Synonyms

MMRRC Submission

044653-MU

Accession Numbers

MGI: 1329005

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83191330-83215154 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83213106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 268 (C268S)

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: C145S

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

SMART Domains

Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: C145S

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: C268S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216599

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,527	T826A	probably damaging	Het
Abca16	T	A	7: 120,477,772	I686N	possibly damaging	Het
Abcb6	T	C	1: 75,177,488		probably null	Het
Adgrl3	A	C	5: 81,787,517	E1299A	probably damaging	Het
Als2cr12	T	C	1: 58,692,413	M1V	probably null	Het
Amd2	A	C	10: 35,710,806	Y252D	probably damaging	Het
Cfap74	A	G	4: 155,422,265		probably null	Het
Dhx29	G	T	13: 112,932,542	K135N	probably damaging	Het
Dlg5	T	A	14: 24,190,448	D245V	possibly damaging	Het
Dscaml1	C	T	9: 45,712,184	Q83*	probably null	Het
Dsp	T	A	13: 38,195,873	L1599Q	probably damaging	Het
Duox2	A	G	2: 122,294,614	V369A	probably benign	Het
Gbe1	T	A	16: 70,433,672		probably null	Het
Gm7298	A	G	6: 121,769,710	K600R	probably benign	Het
Heatr4	C	T	12: 83,979,763	G240E	probably damaging	Het
Jakmip2	A	G	18: 43,556,524	V651A	possibly damaging	Het
Jam3	C	T	9: 27,155,344	R8Q	unknown	Het
Letm2	A	G	8: 25,592,506		probably benign	Het
Lmod3	T	C	6: 97,247,378	D494G	probably benign	Het
Mast2	T	C	4: 116,314,939	D604G	probably damaging	Het
Mif4gd	C	T	11: 115,609,275		probably null	Het
Msr1	T	C	8: 39,624,233	E112G	possibly damaging	Het
Mtus2	A	G	5: 148,277,598		probably null	Het
Muc4	A	G	16: 32,753,433	H1103R	probably benign	Het
Nudt14	T	A	12: 112,934,887	I198F	possibly damaging	Het
Olfr1341	T	A	4: 118,709,848	F147Y	possibly damaging	Het
Olfr353	T	C	2: 36,890,582	T89A	probably benign	Het
Olfr736	T	A	14: 50,393,428	L224*	probably null	Het
Osbpl8	T	C	10: 111,293,205	I884T	probably benign	Het
Podxl2	T	C	6: 88,842,930	N550S	probably damaging	Het
Ppp1r9a	A	G	6: 5,045,949	Y151C	probably damaging	Het
Prss42	T	C	9: 110,800,856	V226A	possibly damaging	Het
Psmd12	A	G	11: 107,488,968	I116V	probably damaging	Het
Psme4	A	C	11: 30,832,175	I872L	probably benign	Het
Rab11fip1	A	T	8: 27,174,392	V65E	probably damaging	Het
Ros1	T	C	10: 52,143,377	N700S	possibly damaging	Het
Slc15a4	G	A	5: 127,596,709	T547M	probably damaging	Het
Smc5	T	C	19: 23,228,190	Q794R	probably benign	Het
Sqor	A	G	2: 122,809,286	Y434C	probably damaging	Het
Steap4	T	A	5: 7,978,502	L360H	probably damaging	Het
Sycp1	A	G	3: 102,898,887	V496A	probably benign	Het
Tmem161b	T	G	13: 84,272,264	M128R	probably benign	Het
Tmem59l	T	C	8: 70,486,125	E102G	probably damaging	Het
Tnks	A	T	8: 34,873,093	V457D	probably benign	Het
Tomt	A	G	7: 101,900,392	Y230H	probably damaging	Het
Trim37	A	G	11: 87,190,084	N561D	probably damaging	Het
V1ra8	T	A	6: 90,203,313	I166K	probably damaging	Het
Vmn1r56	A	G	7: 5,196,576	V14A	probably benign	Het
Vsig8	T	C	1: 172,560,358	V5A	possibly damaging	Het
Vwa8	A	T	14: 78,947,213	S384C	possibly damaging	Het
Wwc1	C	T	11: 35,853,437	E853K	probably benign	Het
Zfp984	T	C	4: 147,755,924	N157D	probably benign	Het
Zzef1	G	A	11: 72,874,990	D1448N	probably benign	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
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
R8671:Slfn3	UTSW	11	83212999	missense	probably benign	0.00
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'- TGAAACCATTGAAGCCGAATC -3'
(R):5'- GTTTTGCCATCCAAGCCAATG -3'

Sequencing Primer
(F):5'- CCATTGAAGCCGAATCAGAAAG -3'
(R):5'- GAACAAAAATCCCCCATCAGTGTTTG -3'

Posted On

2018-06-06