Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Slfn8'

280127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

83002158-83020810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83004498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 494 (L494Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114417 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000038141
AA Change: L494Q

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

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: L494Q

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: L494Q

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

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: L494Q

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 damaging
Transcript: ENSMUST00000130822
AA Change: L494Q

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

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: L494Q

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: L270Q

SMART Domains

Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: L270Q

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	T	C	9: 22,424,179	I31T	probably benign	Het
Adgrg3	G	A	8: 95,034,999	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,370,196	L42*	probably null	Het
Ankrd45	A	G	1: 161,163,351	K259E	probably damaging	Het
Apoc3	T	C	9: 46,234,474	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,539,844	Y416H	probably damaging	Het
Armc5	A	G	7: 128,244,083	T683A	probably benign	Het
Bora	T	C	14: 99,047,377	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,606,991	S2189N	probably damaging	Het
Cct2	G	A	10: 117,053,112	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,788,781	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 115,012,393		probably benign	Het
Cntnap5a	G	A	1: 116,089,352	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,102,108	D447V	probably damaging	Het
Cpne7	T	C	8: 123,125,653		probably benign	Het
Dap3	G	A	3: 88,929,418	T92I	probably benign	Het
Dnmbp	A	G	19: 43,867,555	L254P	probably damaging	Het
Egfem1	G	A	3: 29,650,896		probably null	Het
Fam120b	T	C	17: 15,402,585	L275P	possibly damaging	Het
Fam161a	A	T	11: 23,020,026	H68L	probably benign	Het
Fam193a	A	G	5: 34,410,657	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,332,053	D147V	possibly damaging	Het
Gm10136	T	C	19: 29,003,722	K41E	probably benign	Het
Gm10797	C	T	10: 67,572,567		noncoding transcript	Het
Hsf1	A	G	15: 76,496,081		probably benign	Het
Ipo8	A	G	6: 148,799,780	V514A	probably damaging	Het
Itfg2	T	C	6: 128,410,381	H422R	probably benign	Het
Lrp4	G	T	2: 91,506,059	L1738F	probably damaging	Het
Mettl17	A	G	14: 51,891,386	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,708,344	L454Q	probably damaging	Het
Myh10	A	T	11: 68,790,112	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,274,944	M1K	probably null	Het
Olfr1163	T	A	2: 88,071,227	N52Y	probably benign	Het
Olfr677	A	G	7: 105,056,945	D233G	probably benign	Het
Olfr709-ps1	A	C	7: 106,926,616	V281G	probably damaging	Het
Otop1	T	A	5: 38,277,701	C89S	probably benign	Het
Pitrm1	G	T	13: 6,573,145	R775L	probably benign	Het
Prpf19	A	G	19: 10,905,094	T512A	probably benign	Het
Prpf4b	T	A	13: 34,883,961	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,822,837	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,937,180	D148G	probably damaging	Het
Sbds	A	G	5: 130,250,941	I74T	probably damaging	Het
Sec63	T	C	10: 42,810,888	V468A	probably damaging	Het
Slc35b3	A	T	13: 38,955,782	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,864,013	Y208F	probably benign	Het
Sorcs1	T	G	19: 50,230,245	M600L	probably benign	Het
Supt7l	T	C	5: 31,515,678		probably null	Het
Tecrl	T	A	5: 83,354,792	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,218,166		probably benign	Het
Tespa1	A	G	10: 130,355,484	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,469,061	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,620,367		noncoding transcript	Het
Tmem184a	G	T	5: 139,813,101	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,719,801	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,336,105	T255I	probably damaging	Het
Top1mt	G	A	15: 75,665,706		probably benign	Het
Treh	C	T	9: 44,682,961	T168I	probably benign	Het
Ttn	A	T	2: 76,767,328	I11420N	probably benign	Het
Zp2	T	C	7: 120,132,418	K705E	possibly damaging	Het
Zw10	T	C	9: 49,068,754	I395T	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
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
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

Posted On

2015-04-16