Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Slfn8'

310356

Institutional Source

Beutler Lab

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

MMRRC Submission

040802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83002158-83020810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83004444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 512 (T512I)

Ref Sequence

ENSEMBL: ENSMUSP00000114417 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038141
AA Change: T512I

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: T512I

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: T512I

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: T512I

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

probably benign
Transcript: ENSMUST00000108152

SMART Domains

Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130822
AA Change: T512I

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: T512I

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

Predicted Effect

unknown
Transcript: ENSMUST00000131883
AA Change: T288I

SMART Domains

Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: T288I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215239

Meta Mutation Damage Score

0.1606

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,554,700	Y201C	probably damaging	Het
Adam10	A	G	9: 70,768,854	T624A	probably benign	Het
Atf2	T	C	2: 73,863,213	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,587,045	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,483,553	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,426,169	T49P	probably benign	Het
Clip2	T	C	5: 134,522,993	K92E	probably damaging	Het
Clrn3	T	C	7: 135,518,465	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,170,480	C1342G	probably benign	Het
Def8	T	C	8: 123,458,344		probably benign	Het
Dennd4a	T	C	9: 64,872,028	S598P	probably damaging	Het
Deup1	A	G	9: 15,599,713	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Ect2	T	C	3: 27,138,540	D387G	probably damaging	Het
Fam208b	T	C	13: 3,596,785	E80G	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,794,055	I529N	probably benign	Het
Frs3	A	G	17: 47,703,435	D351G	probably damaging	Het
Gcat	T	A	15: 79,037,176	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,635,195	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,781,594	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,567,256	I571T	probably benign	Het
Lsamp	T	C	16: 39,984,692	V11A	probably benign	Het
Mettl1	T	C	10: 127,045,129		probably null	Het
Mettl15	A	G	2: 109,191,579	I127T	probably benign	Het
Mipep	T	C	14: 60,808,995	L322P	probably damaging	Het
Mob1b	T	A	5: 88,753,202	I156K	probably damaging	Het
Mobp	G	A	9: 120,167,956	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,632,907	N97S	probably benign	Het
Myrip	A	G	9: 120,422,258	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,349,456	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,331,485	A342S	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr170	A	G	16: 19,606,455	I71T	probably damaging	Het
Olfr58	T	G	9: 19,783,715	I194S	probably benign	Het
Olfr718-ps1	G	T	5: 143,137,397	S290R	probably benign	Het
Pdgfra	A	G	5: 75,167,927	N240S	probably null	Het
Pdxdc1	T	C	16: 13,836,448	T759A	probably benign	Het
Pex2	C	T	3: 5,560,948	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,945,703	I473T	probably damaging	Het
Prdm15	T	C	16: 97,799,571	H829R	probably damaging	Het
Pum1	T	C	4: 130,764,082	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,228,355	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,765,224	F956I	probably damaging	Het
Samd1	G	A	8: 83,997,732		probably benign	Het
Slc4a11	A	T	2: 130,685,785	S592T	probably damaging	Het
Slc5a4b	A	G	10: 76,062,260	V540A	probably benign	Het
Slx4	A	T	16: 3,979,909	I1537N	probably damaging	Het
Sorl1	G	A	9: 42,004,105	T1276M	probably damaging	Het
Specc1	C	T	11: 62,151,913	T872M	probably benign	Het
Speer4f1	T	C	5: 17,479,502	I176T	probably damaging	Het
Spint1	T	C	2: 119,248,802	I455T	probably benign	Het
Srp54a	A	G	12: 55,089,193		probably null	Het
Stoml3	T	A	3: 53,507,454	N222K	probably damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tanc2	A	T	11: 105,798,678	D222V	probably damaging	Het
Thsd7a	G	A	6: 12,418,337	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,857,936	H723Y	probably benign	Het
Wdfy4	T	C	14: 33,047,280	E2076G	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
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
R4773:Slfn8	UTSW	11	83017393	missense	probably damaging	1.00
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'- AGAATCTCATACTGTTGGGCTG -3'
(R):5'- TGGACCTGAACCTGAAGGAG -3'

Sequencing Primer
(F):5'- GGGCTGTGAGAAGATTCAAAATTTC -3'
(R):5'- GAAGCAGGAAGTCATCTGTGATGC -3'

Posted On

2015-04-17