Mutagenetix > Incidental Mutation

Incidental Mutation 'R4773:Slfn8'

367696

Institutional Source

Beutler Lab

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

MMRRC Submission

042411-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4773 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83002158-83020810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83017393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000040060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038141] [ENSMUST00000092838] [ENSMUST00000108152] [ENSMUST00000130822] [ENSMUST00000215239]

AlphaFold

B1ARD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000038141
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: V108A

Domain	Start	End	E-Value	Type
Pfam:AAA_4	205	343	1.6e-18	PFAM
Pfam:DUF2075	592	766	5.8e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092838
AA Change: V108A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: V108A

Domain	Start	End	E-Value	Type
Pfam:AlbA_2	205	341	1.4e-17	PFAM
Pfam:DUF2075	592	767	2.2e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108152
AA Change: V108A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: V108A

Domain	Start	End	E-Value	Type
Pfam:AAA_4	205	343	4.1e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130822
AA Change: V108A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: V108A

Domain	Start	End	E-Value	Type
Pfam:AAA_4	205	343	3.7e-19	PFAM
SCOP:d1ly1a_	593	625	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131883

SMART Domains

Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208

Domain	Start	End	E-Value	Type
Pfam:AlbA_2	27	163	1.8e-15	PFAM
SCOP:d1ly1a_	370	402	2e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215239
AA Change: V108A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.7052

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,550,598		probably null	Het
9230009I02Rik	A	G	11: 51,091,262		noncoding transcript	Het
Actl7b	T	C	4: 56,740,972	I129V	probably benign	Het
Adipor2	A	G	6: 119,359,086	L225P	probably benign	Het
Arhgap25	A	G	6: 87,496,071	F35L	probably benign	Het
Asah2	A	T	19: 32,052,858	M138K	probably damaging	Het
Asxl1	T	A	2: 153,401,985	M1486K	probably damaging	Het
B4galt4	T	A	16: 38,752,296	S114R	probably benign	Het
Brpf3	T	G	17: 28,821,259	S885A	probably benign	Het
Cacna1g	G	T	11: 94,411,472	H1944N	possibly damaging	Het
Ccdc110	G	A	8: 45,943,208	C712Y	probably damaging	Het
Ccdc175	A	T	12: 72,136,048	I399N	probably damaging	Het
Cct8l1	A	T	5: 25,517,756	T490S	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Copa	A	G	1: 172,105,220	N371D	probably damaging	Het
Cpeb1	A	T	7: 81,355,947	H381Q	probably benign	Het
Cyp2d40	T	A	15: 82,761,562	I81F	possibly damaging	Het
Dscc1	A	T	15: 55,080,258	D405E	probably benign	Het
Ece1	A	G	4: 137,945,153	D369G	probably benign	Het
Exd2	T	C	12: 80,475,818	V17A	possibly damaging	Het
Fam111a	A	T	19: 12,588,408	N507I	possibly damaging	Het
Flnc	T	C	6: 29,445,039	V719A	possibly damaging	Het
Fscb	C	T	12: 64,473,690	G334D	probably damaging	Het
Glud1	T	C	14: 34,321,825		probably null	Het
Gm8126	T	A	14: 43,261,615	Y180*	probably null	Het
Grip2	G	A	6: 91,782,432	P347L	possibly damaging	Het
H60b	C	T	10: 22,288,745		probably benign	Het
Hist1h1d	T	C	13: 23,555,402	S105P	probably damaging	Het
Itga6	T	C	2: 71,822,444	V217A	probably benign	Het
Kndc1	G	A	7: 139,924,031	W1083*	probably null	Het
Limch1	A	T	5: 67,027,507	D613V	probably damaging	Het
Lpl	T	A	8: 68,896,751	C310S	probably damaging	Het
March1	T	A	8: 66,387,224	C220S	probably benign	Het
Mbd5	A	C	2: 49,274,611	H308P	probably damaging	Het
Med13	T	C	11: 86,276,920	D2003G	probably damaging	Het
Mettl16	T	A	11: 74,817,301	V442D	possibly damaging	Het
Mstn	A	T	1: 53,062,108	T115S	probably benign	Het
Nfil3	A	G	13: 52,968,014	S285P	probably damaging	Het
Olfr218	A	C	1: 173,204,229	Y291S	probably damaging	Het
Olfr645	A	G	7: 104,084,295	S262P	probably damaging	Het
Otof	A	G	5: 30,394,682	V321A	probably benign	Het
Pcdha8	G	T	18: 36,994,573	A703S	probably damaging	Het
Pcdhb18	A	G	18: 37,490,454	Y279C	probably damaging	Het
Pdgfa	T	C	5: 138,993,296	D51G	probably benign	Het
Pdzd8	A	G	19: 59,300,860	Y703H	probably damaging	Het
Pecr	G	T	1: 72,267,435	P229Q	probably damaging	Het
Phkg1	G	T	5: 129,873,273		probably null	Het
Plxnb2	A	T	15: 89,166,947	H356Q	probably benign	Het
Polr1b	T	C	2: 129,105,328	I191T	probably benign	Het
Ppp4r3a	A	G	12: 101,082,767	L35P	possibly damaging	Het
Rasa2	C	T	9: 96,544,417	G792D	probably benign	Het
Rps11-ps4	T	C	12: 51,297,623		noncoding transcript	Het
Sema3g	A	G	14: 31,220,709	D89G	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Smg9	T	A	7: 24,407,594	M221K	possibly damaging	Het
Soga1	G	T	2: 157,030,569	Q953K	probably benign	Het
Sos1	A	G	17: 80,398,231	S1304P	probably damaging	Het
Spert	T	A	14: 75,583,106	Y393F	probably damaging	Het
Sqle	C	A	15: 59,317,839	A110E	possibly damaging	Het
Stab2	G	A	10: 86,907,371	Q1154*	probably null	Het
Taf4b	A	G	18: 14,804,520	T217A	probably benign	Het
Tex15	T	C	8: 33,582,732	V2769A	probably benign	Het
Tmem156	A	T	5: 65,080,159	C53S	probably damaging	Het
Tmtc3	T	A	10: 100,457,139	K452N	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tph1	T	C	7: 46,656,952	E195G	probably damaging	Het
Trpc6	T	A	9: 8,609,851	Y107N	possibly damaging	Het
Tsga10	G	A	1: 37,835,525	T93I	probably damaging	Het
Ttc25	C	A	11: 100,549,916	N74K	probably benign	Het
Ttn	T	A	2: 76,741,434	N26372Y	probably damaging	Het
Tubd1	T	C	11: 86,555,302	L256P	possibly damaging	Het
Txnrd2	C	G	16: 18,440,819	A126G	probably benign	Het
Vmn1r210	T	G	13: 22,827,204	K304T	probably benign	Het
Vps25	T	C	11: 101,258,829	S160P	probably benign	Het
Vrk3	T	A	7: 44,775,476	D438E	probably benign	Het
Vwa5b1	A	G	4: 138,581,755	L708P	probably benign	Het
Washc3	C	T	10: 88,219,262	Q105*	probably null	Het
Wdr83os	T	A	8: 85,080,781		probably benign	Het
Wwc1	T	C	11: 35,867,296	H741R	probably benign	Het
Zan	T	C	5: 137,436,313		probably benign	Het
Zdhhc4	A	T	5: 143,326,176	L14I	possibly damaging	Het
Zfp568	T	A	7: 29,997,770	D38E	probably damaging	Het

Other mutations in Slfn8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Slfn8	APN	11	83013484	missense	possibly damaging	0.75
IGL01418:Slfn8	APN	11	83004636	missense	probably damaging	1.00
IGL01620:Slfn8	APN	11	83004233	nonsense	probably null
IGL01875:Slfn8	APN	11	83004079	missense	probably benign	0.30
IGL01896:Slfn8	APN	11	83003696	missense	probably damaging	1.00
IGL01929:Slfn8	APN	11	83003405	nonsense	probably null
IGL02111:Slfn8	APN	11	83004498	missense	probably damaging	1.00
IGL02136:Slfn8	APN	11	83003465	nonsense	probably null
IGL02165:Slfn8	APN	11	83017196	missense	probably benign	0.00
IGL02645:Slfn8	APN	11	83003554	missense	possibly damaging	0.82
IGL02682:Slfn8	APN	11	83003691	missense	probably damaging	1.00
IGL02689:Slfn8	APN	11	83017108	missense	probably damaging	1.00
IGL02948:Slfn8	APN	11	83003252	missense	probably damaging	0.99
IGL03037:Slfn8	APN	11	83003252	missense	probably damaging	0.99
IGL03185:Slfn8	APN	11	83017507	missense	probably benign	0.01
IGL03243:Slfn8	APN	11	83003707	missense	probably damaging	1.00
IGL03286:Slfn8	APN	11	83013468	missense	probably damaging	0.99
seven_dwarfs	UTSW	11	83003334	missense	probably benign	0.09
vanwinkle	UTSW	11	83017393	missense	probably damaging	1.00
R0295:Slfn8	UTSW	11	83003343	nonsense	probably null
R0368:Slfn8	UTSW	11	83017132	missense	probably damaging	1.00
R0382:Slfn8	UTSW	11	83004556	missense	probably damaging	1.00
R0655:Slfn8	UTSW	11	83003821	missense	probably benign	0.35
R0894:Slfn8	UTSW	11	83003581	missense	probably benign	0.07
R1006:Slfn8	UTSW	11	83003511	missense	possibly damaging	0.69
R1181:Slfn8	UTSW	11	83016745	missense	probably benign	0.19
R1187:Slfn8	UTSW	11	83003488	missense	probably damaging	1.00
R1501:Slfn8	UTSW	11	83003180	missense	probably damaging	0.99
R1646:Slfn8	UTSW	11	83016886	missense	probably damaging	1.00
R1909:Slfn8	UTSW	11	83003621	nonsense	probably null
R2005:Slfn8	UTSW	11	83004150	missense	probably damaging	1.00
R2363:Slfn8	UTSW	11	83004094	missense	probably damaging	1.00
R3780:Slfn8	UTSW	11	83017454	missense	probably benign	0.13
R3890:Slfn8	UTSW	11	83004444	missense	possibly damaging	0.68
R3917:Slfn8	UTSW	11	83016993	nonsense	probably null
R4559:Slfn8	UTSW	11	83004744	missense	probably damaging	1.00
R4684:Slfn8	UTSW	11	83017506	missense	probably benign	0.10
R4767:Slfn8	UTSW	11	83003197	missense	possibly damaging	0.66
R4859:Slfn8	UTSW	11	83017714	start codon destroyed	probably null	0.99
R4916:Slfn8	UTSW	11	83016878	missense	probably damaging	1.00
R4939:Slfn8	UTSW	11	83003285	missense	probably benign	0.01
R5107:Slfn8	UTSW	11	83017150	missense	probably damaging	0.99
R5130:Slfn8	UTSW	11	83003821	missense	probably benign	0.35
R5165:Slfn8	UTSW	11	83017127	missense	probably damaging	0.99
R5238:Slfn8	UTSW	11	83013388	missense	probably damaging	0.96
R5282:Slfn8	UTSW	11	83017724	critical splice acceptor site	probably null
R5311:Slfn8	UTSW	11	83004084	missense	probably damaging	1.00
R5499:Slfn8	UTSW	11	83004216	missense	probably damaging	0.99
R5617:Slfn8	UTSW	11	83004721	missense	probably benign	0.01
R5782:Slfn8	UTSW	11	83017041	missense	probably damaging	0.98
R5823:Slfn8	UTSW	11	83016736	missense	probably benign	0.01
R5886:Slfn8	UTSW	11	83003334	missense	probably benign	0.09
R5933:Slfn8	UTSW	11	83003335	missense	probably benign	0.00
R6151:Slfn8	UTSW	11	83017321	missense	probably damaging	1.00
R6163:Slfn8	UTSW	11	83003864	makesense	probably null
R6191:Slfn8	UTSW	11	83016800	missense	possibly damaging	0.72
R6419:Slfn8	UTSW	11	83004055	splice site	probably null
R6925:Slfn8	UTSW	11	83013417	nonsense	probably null
R7065:Slfn8	UTSW	11	83016968	missense	probably benign	0.01
R7380:Slfn8	UTSW	11	83003740	missense	not run
R7414:Slfn8	UTSW	11	83016792	nonsense	probably null
R7819:Slfn8	UTSW	11	83004255	missense	probably damaging	1.00
R8425:Slfn8	UTSW	11	83004615	missense	possibly damaging	0.80
R8517:Slfn8	UTSW	11	83004142	missense	possibly damaging	0.68
R8804:Slfn8	UTSW	11	83016813	missense	possibly damaging	0.94
R8814:Slfn8	UTSW	11	83016679	missense	possibly damaging	0.95
R9069:Slfn8	UTSW	11	83017076	missense	probably damaging	1.00
R9233:Slfn8	UTSW	11	83003596	missense	probably damaging	1.00
R9457:Slfn8	UTSW	11	83017706	missense	probably benign
R9678:Slfn8	UTSW	11	83016897	missense	probably damaging	1.00
R9708:Slfn8	UTSW	11	83003441	missense	probably benign	0.00
R9764:Slfn8	UTSW	11	83017012	missense	probably damaging	1.00
X0021:Slfn8	UTSW	11	83016928	missense	possibly damaging	0.69
Z1177:Slfn8	UTSW	11	83003533	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GCTGTTCTGACACATGGCTC -3'
(R):5'- GGCTGCTTGTGCTCTGTTAAAC -3'

Sequencing Primer
(F):5'- GACACATGGCTCTCGGAATTTTAGC -3'
(R):5'- GCTCTGTTAAACTCTGGAGGAG -3'

Posted On

2015-12-29