Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02689:Slfn8'

303646

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02689

Quality Score

Status

Chromosome

Chromosomal Location

82892984-82911636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82907934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 203 (F203S)

Ref Sequence

ENSEMBL: ENSMUSP00000149800 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000038141
AA Change: F203S

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

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: F203S

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: F203S

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

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: F203S

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: F203S

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

SMART Domains

Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: F203S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130822
AA Change: F203S

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

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: F203S

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

Predicted Effect

unknown
Transcript: ENSMUST00000131883
AA Change: F24S

SMART Domains

Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: F24S

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: F203S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,835,692 (GRCm39)	A235S	probably benign	Het
Add2	A	G	6: 86,084,388 (GRCm39)	I479V	possibly damaging	Het
Anapc11	T	A	11: 120,490,168 (GRCm39)	M28K	probably benign	Het
Anapc15-ps	T	C	10: 95,508,993 (GRCm39)	S87G	probably benign	Het
Atraid	T	C	5: 31,209,826 (GRCm39)	L46P	probably damaging	Het
Ccdc80	T	A	16: 44,916,772 (GRCm39)	Y509*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cecr2	T	A	6: 120,739,128 (GRCm39)	L1257Q	probably damaging	Het
Csn1s2b	A	G	5: 87,957,780 (GRCm39)	I5V	probably benign	Het
Dhps	T	C	8: 85,800,379 (GRCm39)	Y221H	possibly damaging	Het
Dmxl1	T	C	18: 49,997,962 (GRCm39)	S717P	probably damaging	Het
Dppa5a	G	T	9: 78,275,113 (GRCm39)	S63Y	probably damaging	Het
Eif3l	A	T	15: 78,970,719 (GRCm39)	D331V	possibly damaging	Het
Folh1	G	T	7: 86,412,253 (GRCm39)		probably null	Het
Gbp9	G	T	5: 105,253,662 (GRCm39)	Q18K	probably benign	Het
Grm5	A	G	7: 87,251,918 (GRCm39)	K56R	probably damaging	Het
H2-M3	T	A	17: 37,581,432 (GRCm39)	Y31*	probably null	Het
Herc2	T	C	7: 55,815,031 (GRCm39)		probably benign	Het
Itga7	G	T	10: 128,782,687 (GRCm39)	A675S	possibly damaging	Het
Lipo5	G	A	19: 33,445,186 (GRCm39)	H128Y	unknown	Het
Or2bd2	T	C	7: 6,443,574 (GRCm39)	L225P	possibly damaging	Het
Or5b121	A	G	19: 13,507,171 (GRCm39)	I89V	probably benign	Het
Pdk4	C	T	6: 5,487,408 (GRCm39)	V281I	probably benign	Het
Pkn3	G	A	2: 29,970,858 (GRCm39)	G202D	probably damaging	Het
Rcbtb1	A	G	14: 59,462,149 (GRCm39)	N260S	probably damaging	Het
Sipa1l1	T	C	12: 82,487,594 (GRCm39)	F1623L	probably benign	Het
St6gal2	T	C	17: 55,789,596 (GRCm39)	L210S	probably damaging	Het
Taf5	T	C	19: 47,065,704 (GRCm39)		probably benign	Het
Taok2	A	G	7: 126,475,270 (GRCm39)	F226S	probably damaging	Het
Timm10b	A	G	7: 105,289,839 (GRCm39)		probably benign	Het
Tmx3	A	G	18: 90,555,240 (GRCm39)	N319S	possibly damaging	Het
Trmt1	G	T	8: 85,426,385 (GRCm39)		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
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
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

Posted On

2015-04-16