Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03243:Slfn8'

414301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL03243

Quality Score

Status

Chromosome

Chromosomal Location

83002158-83020810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83003707 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 702 (I702K)

Ref Sequence

ENSEMBL: ENSMUSP00000090513 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038141
AA Change: I702K

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

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: I702K

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

probably damaging
Transcript: ENSMUST00000092838
AA Change: I702K

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

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: I702K

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

probably benign
Transcript: ENSMUST00000130822

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208

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

probably benign
Transcript: ENSMUST00000215239

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 43,568,696	T586A	probably benign	Het
Agtr1b	T	C	3: 20,315,795	T216A	probably benign	Het
Ankdd1a	T	C	9: 65,501,470	R505G	probably benign	Het
Anxa3	A	T	5: 96,828,692		probably benign	Het
Atp6v1c2	C	T	12: 17,289,121	V210I	probably benign	Het
BC034090	G	A	1: 155,225,655	P288S	possibly damaging	Het
Catsper2	T	C	2: 121,406,819	H200R	probably benign	Het
Cntnap5c	G	T	17: 58,102,176	A470S	probably benign	Het
Fcho2	G	A	13: 98,777,384		probably benign	Het
Frem1	A	C	4: 83,013,969	L165R	probably damaging	Het
Gm5155	A	T	7: 17,918,649		noncoding transcript	Het
Gpn1	G	A	5: 31,510,831		probably null	Het
Gpr179	T	C	11: 97,351,475	N181S	probably benign	Het
Heatr5b	A	T	17: 78,763,080		probably benign	Het
Kat6a	A	G	8: 22,910,222	N333S	possibly damaging	Het
Lrp5	T	C	19: 3,630,159	T442A	probably benign	Het
Myo15	G	T	11: 60,496,518	L722F	probably damaging	Het
Nlrp9c	T	G	7: 26,365,032	D957A	probably damaging	Het
Nupl1	T	A	14: 60,221,616	T521S	probably benign	Het
Olfr58	T	G	9: 19,783,268	I45S	probably damaging	Het
Plek	C	A	11: 16,995,319	V4L	possibly damaging	Het
Sell	T	A	1: 164,065,342	H42Q	possibly damaging	Het
Svep1	T	C	4: 58,133,387	I573V	probably benign	Het
Tgm1	T	A	14: 55,705,907	I526F	probably damaging	Het
Tmem30c	A	T	16: 57,276,150	S203T	probably benign	Het
Tox	T	C	4: 6,697,597	N402S	possibly damaging	Het
Trav7d-4	C	A	14: 52,770,098		probably benign	Het
Unc13d	A	T	11: 116,067,844	V784D	probably benign	Het
Vmn2r68	A	G	7: 85,233,755	V263A	possibly damaging	Het
Zfp385c	A	T	11: 100,634,747	V56D	probably damaging	Het
Znrf2	A	T	6: 54,884,769	I222L	possibly 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
IGL03286:Slfn8	APN	11	83013468	missense	probably damaging	0.99
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
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	unclassified	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
X0021:Slfn8	UTSW	11	83016928	missense	possibly damaging	0.69

Posted On

2016-08-02