Mutagenetix > Incidental Mutation

Incidental Mutation 'R5282:Slfn8'

402829

Institutional Source

Beutler Lab

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

MMRRC Submission

042867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5282 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82892984-82911636 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 82908550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114417 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

probably null
Transcript: ENSMUST00000038141

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208

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 null
Transcript: ENSMUST00000092838

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208

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 null
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 null
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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,439 (GRCm39)	M1K	probably null	Het
2810021J22Rik	T	C	11: 58,771,166 (GRCm39)	L216S	possibly damaging	Het
4933405O20Rik	G	A	7: 50,249,220 (GRCm39)	E85K	possibly damaging	Het
Agrn	A	G	4: 156,257,492 (GRCm39)	F1153L	probably damaging	Het
Cbx8	A	G	11: 118,929,742 (GRCm39)	S284P	probably damaging	Het
Cep128	A	G	12: 91,305,893 (GRCm39)	L170P	probably damaging	Het
Cyp4f14	T	A	17: 33,126,959 (GRCm39)	T324S	probably damaging	Het
Daw1	G	T	1: 83,170,419 (GRCm39)	V244L	probably benign	Het
Eef2kmt	A	G	16: 5,063,222 (GRCm39)	V306A	probably benign	Het
Enah	A	T	1: 181,763,293 (GRCm39)		probably null	Het
Fam171b	T	C	2: 83,683,949 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,808,925 (GRCm39)	T1748I	possibly damaging	Het
Gabrg2	C	T	11: 41,862,559 (GRCm39)	G175D	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hmcn1	G	T	1: 150,458,047 (GRCm39)	N33K	probably damaging	Het
Incenp	T	A	19: 9,855,770 (GRCm39)	E514V	unknown	Het
Kank3	T	C	17: 34,036,917 (GRCm39)	S74P	probably benign	Het
Lrriq1	G	T	10: 103,051,206 (GRCm39)	N515K	probably benign	Het
Mfsd13b	G	A	7: 120,591,056 (GRCm39)	D266N	probably damaging	Het
Neto1	T	C	18: 86,422,998 (GRCm39)	Y152H	probably damaging	Het
Nub1	C	A	5: 24,900,533 (GRCm39)	F145L	probably benign	Het
Nufip1	T	C	14: 76,351,715 (GRCm39)		probably null	Het
Pard6g	T	A	18: 80,123,116 (GRCm39)	V50E	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Rapgef5	A	C	12: 117,703,379 (GRCm39)	N431T	probably damaging	Het
Rassf9	A	T	10: 102,381,205 (GRCm39)	T196S	probably damaging	Het
Rrp12	T	C	19: 41,865,029 (GRCm39)	Y764C	probably benign	Het
Smox	T	A	2: 131,363,026 (GRCm39)	V265D	probably damaging	Het
Sult1b1	T	C	5: 87,678,510 (GRCm39)	I105V	probably benign	Het
Sycp2	T	C	2: 178,045,554 (GRCm39)	D22G	probably damaging	Het
Tbck	G	A	3: 132,456,977 (GRCm39)	M630I	possibly damaging	Het
Tenm4	G	C	7: 96,486,538 (GRCm39)	G965R	possibly damaging	Het
Trappc10	G	A	10: 78,023,694 (GRCm39)	T1258I	probably damaging	Het
Tssk1	G	A	16: 17,713,123 (GRCm39)	G303S	probably benign	Het
Tstd2	T	C	4: 46,120,461 (GRCm39)	Y313C	probably damaging	Het
Usp42	G	A	5: 143,707,401 (GRCm39)	T260M	probably damaging	Het
Wdr43	T	A	17: 71,955,772 (GRCm39)	V479E	probably damaging	Het
Xpo7	G	A	14: 70,921,171 (GRCm39)	T599I	probably damaging	Het
Zfp553	A	G	7: 126,836,013 (GRCm39)	K523E	probably benign	Het

Other mutations in Slfn8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Slfn8	APN	11	82,904,310 (GRCm39)	missense	possibly damaging	0.75
IGL01418:Slfn8	APN	11	82,895,462 (GRCm39)	missense	probably damaging	1.00
IGL01620:Slfn8	APN	11	82,895,059 (GRCm39)	nonsense	probably null
IGL01875:Slfn8	APN	11	82,894,905 (GRCm39)	missense	probably benign	0.30
IGL01896:Slfn8	APN	11	82,894,522 (GRCm39)	missense	probably damaging	1.00
IGL01929:Slfn8	APN	11	82,894,231 (GRCm39)	nonsense	probably null
IGL02111:Slfn8	APN	11	82,895,324 (GRCm39)	missense	probably damaging	1.00
IGL02136:Slfn8	APN	11	82,894,291 (GRCm39)	nonsense	probably null
IGL02165:Slfn8	APN	11	82,908,022 (GRCm39)	missense	probably benign	0.00
IGL02645:Slfn8	APN	11	82,894,380 (GRCm39)	missense	possibly damaging	0.82
IGL02682:Slfn8	APN	11	82,894,517 (GRCm39)	missense	probably damaging	1.00
IGL02689:Slfn8	APN	11	82,907,934 (GRCm39)	missense	probably damaging	1.00
IGL02948:Slfn8	APN	11	82,894,078 (GRCm39)	missense	probably damaging	0.99
IGL03037:Slfn8	APN	11	82,894,078 (GRCm39)	missense	probably damaging	0.99
IGL03185:Slfn8	APN	11	82,908,333 (GRCm39)	missense	probably benign	0.01
IGL03243:Slfn8	APN	11	82,894,533 (GRCm39)	missense	probably damaging	1.00
IGL03286:Slfn8	APN	11	82,904,294 (GRCm39)	missense	probably damaging	0.99
seven_dwarfs	UTSW	11	82,894,160 (GRCm39)	missense	probably benign	0.09
vanwinkle	UTSW	11	82,908,219 (GRCm39)	missense	probably damaging	1.00
R0295:Slfn8	UTSW	11	82,894,169 (GRCm39)	nonsense	probably null
R0368:Slfn8	UTSW	11	82,907,958 (GRCm39)	missense	probably damaging	1.00
R0382:Slfn8	UTSW	11	82,895,382 (GRCm39)	missense	probably damaging	1.00
R0655:Slfn8	UTSW	11	82,894,647 (GRCm39)	missense	probably benign	0.35
R0894:Slfn8	UTSW	11	82,894,407 (GRCm39)	missense	probably benign	0.07
R1006:Slfn8	UTSW	11	82,894,337 (GRCm39)	missense	possibly damaging	0.69
R1181:Slfn8	UTSW	11	82,907,571 (GRCm39)	missense	probably benign	0.19
R1187:Slfn8	UTSW	11	82,894,314 (GRCm39)	missense	probably damaging	1.00
R1501:Slfn8	UTSW	11	82,894,006 (GRCm39)	missense	probably damaging	0.99
R1646:Slfn8	UTSW	11	82,907,712 (GRCm39)	missense	probably damaging	1.00
R1909:Slfn8	UTSW	11	82,894,447 (GRCm39)	nonsense	probably null
R2005:Slfn8	UTSW	11	82,894,976 (GRCm39)	missense	probably damaging	1.00
R2363:Slfn8	UTSW	11	82,894,920 (GRCm39)	missense	probably damaging	1.00
R3780:Slfn8	UTSW	11	82,908,280 (GRCm39)	missense	probably benign	0.13
R3890:Slfn8	UTSW	11	82,895,270 (GRCm39)	missense	possibly damaging	0.68
R3917:Slfn8	UTSW	11	82,907,819 (GRCm39)	nonsense	probably null
R4559:Slfn8	UTSW	11	82,895,570 (GRCm39)	missense	probably damaging	1.00
R4684:Slfn8	UTSW	11	82,908,332 (GRCm39)	missense	probably benign	0.10
R4767:Slfn8	UTSW	11	82,894,023 (GRCm39)	missense	possibly damaging	0.66
R4773:Slfn8	UTSW	11	82,908,219 (GRCm39)	missense	probably damaging	1.00
R4859:Slfn8	UTSW	11	82,908,540 (GRCm39)	start codon destroyed	probably null	0.99
R4916:Slfn8	UTSW	11	82,907,704 (GRCm39)	missense	probably damaging	1.00
R4939:Slfn8	UTSW	11	82,894,111 (GRCm39)	missense	probably benign	0.01
R5107:Slfn8	UTSW	11	82,907,976 (GRCm39)	missense	probably damaging	0.99
R5130:Slfn8	UTSW	11	82,894,647 (GRCm39)	missense	probably benign	0.35
R5165:Slfn8	UTSW	11	82,907,953 (GRCm39)	missense	probably damaging	0.99
R5238:Slfn8	UTSW	11	82,904,214 (GRCm39)	missense	probably damaging	0.96
R5311:Slfn8	UTSW	11	82,894,910 (GRCm39)	missense	probably damaging	1.00
R5499:Slfn8	UTSW	11	82,895,042 (GRCm39)	missense	probably damaging	0.99
R5617:Slfn8	UTSW	11	82,895,547 (GRCm39)	missense	probably benign	0.01
R5782:Slfn8	UTSW	11	82,907,867 (GRCm39)	missense	probably damaging	0.98
R5823:Slfn8	UTSW	11	82,907,562 (GRCm39)	missense	probably benign	0.01
R5886:Slfn8	UTSW	11	82,894,160 (GRCm39)	missense	probably benign	0.09
R5933:Slfn8	UTSW	11	82,894,161 (GRCm39)	missense	probably benign	0.00
R6151:Slfn8	UTSW	11	82,908,147 (GRCm39)	missense	probably damaging	1.00
R6163:Slfn8	UTSW	11	82,894,690 (GRCm39)	makesense	probably null
R6191:Slfn8	UTSW	11	82,907,626 (GRCm39)	missense	possibly damaging	0.72
R6419:Slfn8	UTSW	11	82,894,881 (GRCm39)	splice site	probably null
R6925:Slfn8	UTSW	11	82,904,243 (GRCm39)	nonsense	probably null
R7065:Slfn8	UTSW	11	82,907,794 (GRCm39)	missense	probably benign	0.01
R7380:Slfn8	UTSW	11	82,894,566 (GRCm39)	missense	not run
R7414:Slfn8	UTSW	11	82,907,618 (GRCm39)	nonsense	probably null
R7819:Slfn8	UTSW	11	82,895,081 (GRCm39)	missense	probably damaging	1.00
R8425:Slfn8	UTSW	11	82,895,441 (GRCm39)	missense	possibly damaging	0.80
R8517:Slfn8	UTSW	11	82,894,968 (GRCm39)	missense	possibly damaging	0.68
R8804:Slfn8	UTSW	11	82,907,639 (GRCm39)	missense	possibly damaging	0.94
R8814:Slfn8	UTSW	11	82,907,505 (GRCm39)	missense	possibly damaging	0.95
R9069:Slfn8	UTSW	11	82,907,902 (GRCm39)	missense	probably damaging	1.00
R9233:Slfn8	UTSW	11	82,894,422 (GRCm39)	missense	probably damaging	1.00
R9457:Slfn8	UTSW	11	82,908,532 (GRCm39)	missense	probably benign
R9678:Slfn8	UTSW	11	82,907,723 (GRCm39)	missense	probably damaging	1.00
R9708:Slfn8	UTSW	11	82,894,267 (GRCm39)	missense	probably benign	0.00
R9764:Slfn8	UTSW	11	82,907,838 (GRCm39)	missense	probably damaging	1.00
X0021:Slfn8	UTSW	11	82,907,754 (GRCm39)	missense	possibly damaging	0.69
Z1177:Slfn8	UTSW	11	82,894,359 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TCTCCACAGGATGCTCACTC -3'
(R):5'- GCCCCTTCAAAACAGTTTCTAAAG -3'

Sequencing Primer
(F):5'- ACAGGATGCTCACTCTTGTTAG -3'
(R):5'- ACGTAGATGAGTGAATTGTG -3'

Posted On

2016-07-22