Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Slfn8'

671935

Institutional Source

Beutler Lab

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83002158-83020810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83016813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 301 (Q301H)

Ref Sequence

ENSEMBL: ENSMUSP00000040060 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038141
AA Change: Q301H

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: Q301H

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: Q301H

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: Q301H

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 damaging
Transcript: ENSMUST00000108152
AA Change: Q301H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: Q301H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130822
AA Change: Q301H

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: Q301H

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: Q122H

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 damaging
Transcript: ENSMUST00000215239
AA Change: Q301H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,628,656		probably benign	Het
Adamts1	A	G	16: 85,802,412	F100S	probably damaging	Het
Adamts5	A	G	16: 85,869,912		probably benign	Het
Adgrb2	T	A	4: 130,005,419	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,847,016	V617E	probably damaging	Het
Akt1	T	C	12: 112,658,607	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,547,706	T600A	probably benign	Het
B4galt3	C	T	1: 171,276,374	H395Y	probably benign	Het
BC024139	T	G	15: 76,124,084	T376P	possibly damaging	Het
Bin3	A	G	14: 70,123,847	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,806	I480N	probably damaging	Het
Camsap3	A	G	8: 3,602,624	T401A	probably benign	Het
Cdhr5	T	C	7: 141,269,407	T747A	probably benign	Het
Chn2	A	G	6: 54,273,076	I193V	probably benign	Het
Clca3b	T	C	3: 144,839,137	N363S	probably benign	Het
Clec7a	T	C	6: 129,465,555	T125A	probably benign	Het
Cys1	A	T	12: 24,668,611	L81Q	unknown	Het
Dcbld2	G	A	16: 58,461,049		probably benign	Het
Ddx60	T	A	8: 61,958,606	D497E	probably benign	Het
Dnah2	T	C	11: 69,465,685	I2117V	probably benign	Het
Dnah6	G	A	6: 73,065,773	S3274F	probably benign	Het
Dock9	A	T	14: 121,605,183	I1225N	probably damaging	Het
Egfr	A	G	11: 16,869,339	T290A	probably benign	Het
Elmod2	T	A	8: 83,319,521	K142N	probably benign	Het
Ephx2	T	C	14: 66,087,020	T441A	probably benign	Het
Fam234a	A	G	17: 26,216,557		probably benign	Het
Fer1l4	C	A	2: 156,051,994	E102D	probably benign	Het
Fermt3	A	G	19: 7,014,326		probably benign	Het
Fgd5	C	T	6: 91,987,526	R247C	probably benign	Het
Gm14443	G	A	2: 175,169,859	H265Y	probably damaging	Het
Gm8251	T	C	1: 44,056,649	N1763S	probably benign	Het
Gykl1	A	G	18: 52,694,536	D272G	probably benign	Het
Hip1r	T	C	5: 124,001,512	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,425,381	N3714S	probably benign	Het
Hrasls	T	A	16: 29,220,453	V95E	probably benign	Het
Ighv1-36	G	T	12: 114,879,961	T93K	probably benign	Het
Igsf10	T	G	3: 59,336,455	T153P	probably damaging	Het
Kif13b	T	C	14: 64,750,342	C773R	probably damaging	Het
Lipf	T	A	19: 33,964,798	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,264,904	D90G	probably damaging	Het
Msh5	A	T	17: 35,032,854	I410K	probably benign	Het
Mylk3	T	C	8: 85,359,245	D220G	probably benign	Het
Ncdn	G	A	4: 126,750,105	A308V	probably benign	Het
Nfu1	T	A	6: 87,016,432		probably benign	Het
Nup153	A	G	13: 46,687,159	V991A	probably benign	Het
Nup188	T	A	2: 30,330,879	H960Q	probably benign	Het
Parp4	G	T	14: 56,616,443	E839*	probably null	Het
Pfas	T	C	11: 68,991,082	N30D		Het
Pitpnc1	T	A	11: 107,212,605	N223Y	probably damaging	Het
Plod1	C	T	4: 147,913,321	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,880,470	T548A	unknown	Het
Psg20	A	T	7: 18,682,659	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,200,251	I173N	probably damaging	Het
Rimkla	G	A	4: 119,468,076	Q379*	probably null	Het
Rnasel	G	T	1: 153,753,915	G59V	probably damaging	Het
Rptn	A	T	3: 93,395,843	D161V	probably damaging	Het
Scrt1	C	A	15: 76,519,211	C193F	unknown	Het
Sdk2	G	T	11: 113,873,152	Y269*	probably null	Het
Sfxn2	G	C	19: 46,585,804		probably benign	Het
Slc17a4	G	T	13: 23,903,262	T264K	probably benign	Het
Sntb1	G	A	15: 55,792,127	S231F	probably benign	Het
Spag17	T	A	3: 99,967,190	S137T	probably benign	Het
Srd5a2	A	T	17: 74,047,634	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,535,256	H967R	probably benign	Het
Sun1	A	G	5: 139,231,165	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,692,963	L15P	probably benign	Het
Tas2r140	T	A	6: 133,055,363	N144I	probably damaging	Het
Thpo	T	A	16: 20,725,957	R174S	probably damaging	Het
Tnik	A	T	3: 28,594,053	Q418L	unknown	Het
Tnr	A	T	1: 159,858,312	Q371L	probably benign	Het
Tulp2	G	A	7: 45,520,974	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,235,324	W29L	probably damaging	Het
Vrk3	T	A	7: 44,757,846	C80*	probably null	Het
Washc4	T	C	10: 83,572,151	L540P	probably damaging	Het
Wscd1	T	C	11: 71,784,335	F356S	probably damaging	Het
Wwc1	A	T	11: 35,883,317	M372K	probably benign	Het
Zfhx2	A	G	14: 55,074,734	F168L	probably benign	Het
Zfp28	A	G	7: 6,390,400	D175G	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
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
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'- AAAGCCAACTTCAGTGGGTG -3'
(R):5'- CATTTGCAAACACCCAGGGAG -3'

Sequencing Primer
(F):5'- CCAACTTCAGTGGGTGTAATGAACTC -3'
(R):5'- AACACCCAGGGAGGCTATCTTTTC -3'

Posted On

2021-04-30