Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Slfn8'

700373

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: 0.071) question?

Stock #

R9233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83002158-83020810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83003596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 739 (I739R)

Ref Sequence

ENSEMBL: ENSMUSP00000040060 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000038141
AA Change: I739R

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

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: I739R

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: I739R

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

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: I739R

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,140,094	Y444C	possibly damaging	Het
Abca6	G	T	11: 110,191,670	T1159K	probably benign	Het
Acap1	A	G	11: 69,884,658	V479A	probably benign	Het
Actl11	A	G	9: 107,930,701	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,178,391	R418*	probably null	Het
Asic3	G	A	5: 24,413,839	R43H	probably damaging	Het
BC067074	A	T	13: 113,366,220	Y100F		Het
Bsn	A	G	9: 108,117,090	V662A	probably benign	Het
Cacna1a	C	T	8: 84,544,654	R479C	probably damaging	Het
Chchd3	A	T	6: 32,803,910	C214S	probably damaging	Het
Dock9	T	A	14: 121,583,369	T1538S	probably benign	Het
Dyrk1a	A	G	16: 94,666,054	M156V	probably benign	Het
Dzip1	T	C	14: 118,887,223	Q546R	probably benign	Het
Eef2	T	C	10: 81,178,834	V185A	probably benign	Het
Etv4	A	C	11: 101,771,706	V314G	probably damaging	Het
F5	T	A	1: 164,219,451	I2160N	probably damaging	Het
Fam160b1	T	A	19: 57,380,666	F360L	probably damaging	Het
Fbp2	A	T	13: 62,841,808	V228E	possibly damaging	Het
Gcc1	A	G	6: 28,418,711	L541P	probably damaging	Het
Gemin4	A	G	11: 76,213,116	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,145,087	K1193E	possibly damaging	Het
Gmps	C	T	3: 64,016,712	P687L	probably damaging	Het
Gpr162	A	G	6: 124,859,051	L462P	possibly damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hspa12b	T	C	2: 131,134,116	Y13H	probably damaging	Het
Kcnh8	A	C	17: 52,978,140	E1046A	probably damaging	Het
Kcnk12	T	A	17: 87,746,110	T375S	probably benign	Het
Kdm4a	A	G	4: 118,146,996		probably null	Het
Klhl5	G	T	5: 65,143,330	V219L	possibly damaging	Het
Kpna1	A	T	16: 36,033,423	E474D	probably damaging	Het
Lama5	A	T	2: 180,198,709	Y632*	probably null	Het
Lias	A	G	5: 65,393,988	N88S	probably benign	Het
Mei1	C	T	15: 82,089,551	R80C		Het
Micalcl	T	G	7: 112,382,192	S458A	probably benign	Het
Mrps33	A	G	6: 39,805,513	S25P	probably benign	Het
Mttp	T	A	3: 138,116,519	D169V	probably damaging	Het
Npdc1	A	G	2: 25,406,317	E72G	probably damaging	Het
Nsrp1	G	A	11: 77,046,210	R387W	probably benign	Het
Pcnx4	A	G	12: 72,556,813	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pigu	C	T	2: 155,336,690	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,422,200	R52*	probably null	Het
Rbm33	A	G	5: 28,339,241	E165G	probably benign	Het
Rnf5	A	T	17: 34,603,352	V41E	possibly damaging	Het
Ror2	T	C	13: 53,111,554	T501A	probably benign	Het
Rps17	T	G	7: 81,343,749	M105L	probably benign	Het
Ryr2	A	T	13: 11,595,886	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,525,894	M721V	probably benign	Het
Scgb1b30	A	G	7: 34,099,759	T39A	probably damaging	Het
Selenoo	T	C	15: 89,099,841	V620A	probably damaging	Het
Smc6	A	G	12: 11,309,290	T972A	probably benign	Het
Spred1	G	A	2: 117,172,163	R221H	unknown	Het
Stag1	T	A	9: 100,929,971	M834K	probably benign	Het
Taf1a	T	C	1: 183,400,724	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,284,192	D158N	probably benign	Het
Tcirg1	G	T	19: 3,902,543	T275K	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tor1b	A	C	2: 30,954,003	I151L	probably benign	Het
Trappc12	T	A	12: 28,722,415	Q471L	possibly damaging	Het
Trim28	G	A	7: 13,029,563	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,465,413	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,761,956	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,088,229	R118G	probably benign	Het
Vps13d	G	A	4: 145,152,774	T1493I		Het
Xrra1	T	G	7: 99,867,367	M6R	probably benign	Het
Zfp142	T	C	1: 74,571,129	E1169G	probably benign	Het
Zfp738	G	T	13: 67,670,898	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,882,517	M1209T	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
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
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'- TCTTGGAGAGAATAGCCTTTACG -3'
(R):5'- CGCACTGAGGATGGAAACTG -3'

Sequencing Primer
(F):5'- GAGAATAGCCTTTACGCAAGAAATC -3'
(R):5'- CACTGAGGATGGAAACTGGTATG -3'

Posted On

2022-02-07