Mutagenetix > Incidental Mutation

Incidental Mutation 'R5130:Slfn8'

394967

Institutional Source

Beutler Lab

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

MMRRC Submission

042718-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82892984-82911636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82894647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 664 (F664S)

Ref Sequence

ENSEMBL: ENSMUSP00000090513 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

probably benign
Transcript: ENSMUST00000038141
AA Change: F664S

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: F664S

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: F664S

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: F664S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.4%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	C	1: 161,780,184 (GRCm39)	N110S	possibly damaging	Het
Acss3	T	C	10: 106,840,586 (GRCm39)	I392V	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arhgef11	A	G	3: 87,633,321 (GRCm39)	H696R	possibly damaging	Het
Baiap3	G	T	17: 25,464,316 (GRCm39)	D847E	probably benign	Het
Cdc27	T	C	11: 104,425,600 (GRCm39)	K72R	probably benign	Het
Cry2	T	C	2: 92,254,944 (GRCm39)	E137G	probably benign	Het
Dhodh	A	T	8: 110,322,388 (GRCm39)	L237Q	possibly damaging	Het
Dscam	A	T	16: 96,620,979 (GRCm39)	N576K	probably benign	Het
Eng	A	G	2: 32,571,518 (GRCm39)	N636S	probably damaging	Het
Ephx2	A	T	14: 66,345,511 (GRCm39)	I151K	probably damaging	Het
Fahd1	A	G	17: 25,068,733 (GRCm39)	C115R	probably damaging	Het
Fer1l4	T	A	2: 155,891,386 (GRCm39)	I143F	possibly damaging	Het
Iqgap3	C	A	3: 88,016,161 (GRCm39)	N981K	probably damaging	Het
Kcna5	T	C	6: 126,511,496 (GRCm39)	I211V	probably benign	Het
Mcm9	A	T	10: 53,506,495 (GRCm39)	V14E	possibly damaging	Het
Mlh1	A	G	9: 111,058,906 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,809,367 (GRCm39)	K1775E	probably damaging	Het
Myo18b	T	C	5: 113,021,769 (GRCm39)	D541G	probably benign	Het
Ncapd2	A	T	6: 125,146,887 (GRCm39)	M1233K	possibly damaging	Het
Nf2	A	T	11: 4,779,862 (GRCm39)		probably benign	Het
Nova2	C	T	7: 18,660,069 (GRCm39)	T22I	unknown	Het
Or3a1d	A	T	11: 74,237,993 (GRCm39)	M19K	probably damaging	Het
Or7g28	T	A	9: 19,272,369 (GRCm39)	Y94F	possibly damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcdha2	A	T	18: 37,073,722 (GRCm39)	N451I	probably damaging	Het
Pcdhb12	T	A	18: 37,568,877 (GRCm39)	F8I	probably benign	Het
Pdzph1	A	C	17: 59,229,604 (GRCm39)	L1018W	probably damaging	Het
Prdm9	T	C	17: 15,764,729 (GRCm39)	R684G	probably benign	Het
Rabep1	T	A	11: 70,795,557 (GRCm39)	V261E	probably damaging	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Samd9l	A	T	6: 3,374,548 (GRCm39)	D904E	possibly damaging	Het
Siah3	A	T	14: 75,763,381 (GRCm39)	K211*	probably null	Het
Slc5a8	T	A	10: 88,762,077 (GRCm39)	N572K	probably benign	Het
Sowahb	T	A	5: 93,190,630 (GRCm39)	K696N	possibly damaging	Het
St7l	A	T	3: 104,803,080 (GRCm39)	H330L	probably damaging	Het
Tnrc6c	T	A	11: 117,629,176 (GRCm39)		probably null	Het
Ttc28	G	T	5: 111,040,722 (GRCm39)	V37F	probably benign	Het
Uaca	C	A	9: 60,787,510 (GRCm39)	Q1409K	probably damaging	Het
V1rd19	T	A	7: 23,702,537 (GRCm39)	M1K	probably null	Het
Vmn1r225	A	G	17: 20,723,047 (GRCm39)	R163G	possibly damaging	Het
Wdr87-ps	T	C	7: 29,228,699 (GRCm39)		noncoding transcript	Het
Zc3h3	C	A	15: 75,651,139 (GRCm39)	V694L	probably damaging	Het
Zfp442	G	T	2: 150,251,530 (GRCm39)	T123K	possibly damaging	Het
Zmym1	A	T	4: 126,942,451 (GRCm39)	S646T	probably damaging	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
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
R5282:Slfn8	UTSW	11	82,908,550 (GRCm39)	critical splice acceptor site	probably null
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'- AGAAATCTGGGAGGCCACTC -3'
(R):5'- ACTTCATCCGGTAAGTGTTTGG -3'

Sequencing Primer
(F):5'- GAGGCCACTCTCCTTCAAATG -3'
(R):5'- GGGTGTGTTCAATCTAAGATGAAC -3'

Posted On

2016-06-21