Mutagenetix > Incidental Mutation

Incidental Mutation 'R1006:Slfn8'

95775

Institutional Source

Beutler Lab

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

MMRRC Submission

039116-MU

Accession Numbers

Essential gene?

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

Stock #

R1006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82892984-82911636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82894337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 767 (H767Q)

Ref Sequence

ENSEMBL: ENSMUSP00000090513 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038141
AA Change: H767Q

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: H767Q

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: H767Q

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: H767Q

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 97.8%
10x: 93.4%
20x: 82.9%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,911,085 (GRCm39)	I282N	probably benign	Het
Akr1c18	T	C	13: 4,186,654 (GRCm39)	I265V	probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Arfgef1	T	C	1: 10,210,706 (GRCm39)	I1788V	probably benign	Het
Cacng7	T	A	7: 3,415,445 (GRCm39)	I270N	possibly damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cnbd2	A	G	2: 156,170,328 (GRCm39)	I138V	possibly damaging	Het
Cntnap5b	A	G	1: 100,311,342 (GRCm39)	K983E	probably benign	Het
Col14a1	T	C	15: 55,383,331 (GRCm39)	S1770P	probably benign	Het
Cpsf6	A	T	10: 117,201,973 (GRCm39)		probably benign	Het
Ctsc	G	A	7: 87,959,037 (GRCm39)	R439H	probably damaging	Het
Dcun1d1	A	G	3: 35,951,930 (GRCm39)		probably benign	Het
Flg2	A	G	3: 93,108,514 (GRCm39)	I181V	probably benign	Het
Gbp2	A	T	3: 142,343,183 (GRCm39)	S567C	probably damaging	Het
Gm5114	A	G	7: 39,058,510 (GRCm39)	S370P	probably damaging	Het
Kcnh7	A	G	2: 62,546,527 (GRCm39)	V1018A	probably benign	Het
Kmt2a	G	A	9: 44,758,993 (GRCm39)	A952V	probably damaging	Het
Krt1	C	T	15: 101,756,326 (GRCm39)	E340K	possibly damaging	Het
Lim2	T	A	7: 43,084,826 (GRCm39)	I141N	probably damaging	Het
Nlrp4a	T	C	7: 26,152,892 (GRCm39)	V654A	probably benign	Het
Or5b24	T	A	19: 12,912,638 (GRCm39)	C179S	probably damaging	Het
Prr14l	T	C	5: 32,986,826 (GRCm39)	S890G	probably benign	Het
Psmd14	T	A	2: 61,627,726 (GRCm39)		probably null	Het
Ptpn13	A	G	5: 103,734,655 (GRCm39)	D2129G	probably benign	Het
Pum1	C	T	4: 130,499,199 (GRCm39)	T760M	probably damaging	Het
Rif1	A	G	2: 51,975,041 (GRCm39)	I317V	probably damaging	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,184,114 (GRCm39)	G114D	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Tenm3	A	T	8: 48,681,577 (GRCm39)	D2684E	probably damaging	Het
Tet2	T	C	3: 133,182,362 (GRCm39)	T1201A	possibly damaging	Het
Vax2	T	C	6: 83,714,759 (GRCm39)	S225P	probably damaging	Het
Vcan	A	G	13: 89,833,196 (GRCm39)		probably null	Het
Washc5	T	A	15: 59,241,035 (GRCm39)	Q100L	probably benign	Het
Washc5	G	T	15: 59,241,036 (GRCm39)	Q100K	probably benign	Het
Zc3h13	A	G	14: 75,567,989 (GRCm39)	D1094G	probably damaging	Het
Zmiz1	A	G	14: 25,663,404 (GRCm39)	Y1051C	unknown	Het
Zswim2	G	A	2: 83,745,737 (GRCm39)	S567L	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
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
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'- GCGTGATTCATCTCAGATGCTCTCC -3'
(R):5'- TGATGAAGCCCAGAATTTCCGCAC -3'

Sequencing Primer
(F):5'- TTTCTCCGAGGAACATAGACTC -3'
(R):5'- CTCTCGAAGAGTGAAAAGTTGTCC -3'

Posted On

2014-01-05