Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02165:Slfn8'

282633

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: 0.068) question?

Stock #

IGL02165

Quality Score

Status

Chromosome

Chromosomal Location

83002158-83020810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83017196 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 174 (R174G)

Ref Sequence

ENSEMBL: ENSMUSP00000149800 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038141
AA Change: R174G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: R174G

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 benign
Transcript: ENSMUST00000092838
AA Change: R174G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: R174G

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
AA Change: R174G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: R174G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130822
AA Change: R174G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: R174G

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
AA Change: R174G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,927,186	M199K	possibly damaging	Het
Abo	C	A	2: 26,843,429	V255L	probably damaging	Het
Alas1	A	T	9: 106,238,783	M344K	probably damaging	Het
Ap1m1	A	G	8: 72,249,809	I118V	probably benign	Het
Ap5m1	A	T	14: 49,078,728	I252F	possibly damaging	Het
Arhgef2	G	A	3: 88,646,220	R886H	probably damaging	Het
Atp13a4	T	C	16: 29,434,010	E706G	probably damaging	Het
Baz2a	C	A	10: 128,119,349	A775E	probably benign	Het
C3	A	T	17: 57,225,092	F210I	probably benign	Het
Casq1	A	G	1: 172,213,381	L280P	probably damaging	Het
Cebpz	A	G	17: 78,922,169	F919L	probably damaging	Het
Dclre1c	T	A	2: 3,450,381		probably benign	Het
Dsc3	T	G	18: 19,983,652	M276L	probably benign	Het
Eftud2	A	G	11: 102,851,747		probably benign	Het
Elfn2	T	A	15: 78,673,418	T310S	probably benign	Het
Ep300	A	G	15: 81,641,391	K1472R	probably benign	Het
Fbxl2	T	C	9: 114,018,031	D8G	probably benign	Het
Galnt5	T	A	2: 57,998,865	M159K	probably benign	Het
Gm10260	T	G	13: 97,760,140	K150T	probably benign	Het
Gm28048	A	T	11: 22,982,072		probably benign	Het
Hars2	T	A	18: 36,783,394	M1K	probably null	Het
Hk1	T	C	10: 62,281,888	T619A	probably damaging	Het
Ifi44	C	T	3: 151,749,430	V53M	probably damaging	Het
Ippk	T	A	13: 49,446,535	V339D	possibly damaging	Het
Kcnma1	G	T	14: 23,336,967	N875K	possibly damaging	Het
Kdm5a	T	A	6: 120,415,290	V991E	probably damaging	Het
Larp6	A	G	9: 60,713,312	E36G	probably benign	Het
Lonp2	A	T	8: 86,709,026	D210V	probably damaging	Het
Lrrc4c	G	A	2: 97,629,033	M1I	probably null	Het
Mmp2	A	G	8: 92,833,219	K270R	probably null	Het
Nexmif	C	T	X: 104,084,754	V1186I	probably benign	Het
Olfr54	A	T	11: 51,027,643	I214F	probably benign	Het
Olfr744	A	G	14: 50,619,011	Y263C	probably damaging	Het
Pld2	T	C	11: 70,555,677	L763P	probably damaging	Het
Pold1	A	T	7: 44,538,060	F644L	probably damaging	Het
Prrc2b	T	C	2: 32,214,640	S1377P	probably damaging	Het
Rttn	A	G	18: 89,043,041	D1111G	probably benign	Het
Slc27a5	A	G	7: 12,994,948	V130A	probably damaging	Het
Slitrk6	G	A	14: 110,751,817	P153S	probably benign	Het
Sorcs3	T	C	19: 48,654,072	I388T	probably benign	Het
Star	A	T	8: 25,812,815	T262S	possibly damaging	Het
Strn	A	T	17: 78,687,620	W2R	probably damaging	Het
Tnmd	T	C	X: 133,862,952	S172P	probably damaging	Het
Togaram2	A	G	17: 71,697,866	K305R	probably benign	Het
Trhde	C	A	10: 114,592,161	W410L	probably damaging	Het
Trim5	C	T	7: 104,279,359	R125Q	probably damaging	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Vmn1r80	T	A	7: 12,193,452	M163K	probably benign	Het
Wdr34	T	C	2: 30,032,160	T430A	probably benign	Het
Wnk4	C	A	11: 101,275,291		probably benign	Het
Zfp277	T	A	12: 40,315,803	I430F	possibly damaging	Het
Zfp566	A	T	7: 30,077,830	C309S	probably damaging	Het
Zfp740	T	G	15: 102,212,674	F141V	possibly damaging	Het
Zfp87	T	A	13: 67,517,870	I158F	probably damaging	Het
Zswim3	C	A	2: 164,821,115	A505D	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
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
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
X0021:Slfn8	UTSW	11	83016928	missense	possibly damaging	0.69
Z1177:Slfn8	UTSW	11	83003533	missense	probably benign	0.11

Posted On

2015-04-16