Mutagenetix > Incidental Mutation

Incidental Mutation 'R5238:Slfn8'

400526

Institutional Source

Beutler Lab

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

MMRRC Submission

042809-MU

Accession Numbers

Essential gene?

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

Stock #

R5238 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82892984-82911636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82904214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 392 (D392G)

Ref Sequence

ENSEMBL: ENSMUSP00000114417 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000038141
AA Change: D392G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: D392G

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: D392G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: D392G

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
AA Change: D392G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: D392G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130822
AA Change: D392G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: D392G

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
AA Change: D392G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,210,142 (GRCm39)		probably null	Het
Adamtsl5	C	T	10: 80,181,192 (GRCm39)	G63D	probably damaging	Het
Armc9	T	A	1: 86,127,569 (GRCm39)	M68K	probably benign	Het
Atad2	A	C	15: 57,971,733 (GRCm39)	H381Q	possibly damaging	Het
Bclaf1	T	G	10: 20,208,130 (GRCm39)		probably benign	Het
Ccdc188	A	G	16: 18,037,038 (GRCm39)	E238G	probably damaging	Het
Cldn19	G	T	4: 119,112,930 (GRCm39)	C54F	probably damaging	Het
Clip1	T	C	5: 123,785,946 (GRCm39)	D246G	probably damaging	Het
Col20a1	T	C	2: 180,640,379 (GRCm39)	V512A	probably damaging	Het
Cyfip1	G	T	7: 55,541,779 (GRCm39)	A355S	probably benign	Het
Dffa	T	G	4: 149,188,760 (GRCm39)	L18R	probably benign	Het
Dnah8	G	A	17: 31,009,891 (GRCm39)	E3761K	probably damaging	Het
Dusp10	A	G	1: 183,769,210 (GRCm39)	T59A	possibly damaging	Het
Eed	T	C	7: 89,626,173 (GRCm39)	S67G	probably benign	Het
Fam181a	C	T	12: 103,282,392 (GRCm39)	A99V	probably benign	Het
Gm12185	G	A	11: 48,799,044 (GRCm39)	T483I	possibly damaging	Het
Htr3b	A	T	9: 48,848,542 (GRCm39)	C234*	probably null	Het
Kidins220	C	A	12: 25,053,009 (GRCm39)	T433K	probably benign	Het
Man2a1	T	C	17: 64,943,502 (GRCm39)	Y186H	probably damaging	Het
Mcm9	G	T	10: 53,506,093 (GRCm39)	S60R	possibly damaging	Het
Mst1r	T	A	9: 107,784,773 (GRCm39)	C144S	probably damaging	Het
Nckap5	A	G	1: 125,955,461 (GRCm39)	C364R	probably damaging	Het
Nptx2	T	C	5: 144,493,041 (GRCm39)	I376T	probably damaging	Het
Or2a14	T	C	6: 43,130,961 (GRCm39)	S241P	probably damaging	Het
Otogl	A	T	10: 107,604,834 (GRCm39)	C2191S	probably damaging	Het
Plxdc2	T	A	2: 16,655,026 (GRCm39)	F208L	probably damaging	Het
Robo3	A	C	9: 37,328,175 (GRCm39)	Y1339D	probably damaging	Het
Rsph9	G	T	17: 46,446,008 (GRCm39)	Y42*	probably null	Het
Slc39a1	T	A	3: 90,156,702 (GRCm39)	L86Q	probably null	Het
Tiprl	A	G	1: 165,043,337 (GRCm39)	V263A	probably benign	Het
Tmub2	A	G	11: 102,175,820 (GRCm39)		probably benign	Het
Trpm1	T	A	7: 63,918,702 (GRCm39)	F681I	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba3	A	T	6: 97,178,896 (GRCm39)	C68*	probably null	Het
Vmn1r158	T	A	7: 22,489,799 (GRCm39)	M137L	probably benign	Het
Vmn1r50	C	T	6: 90,084,465 (GRCm39)	A70V	possibly damaging	Het
Wwc1	T	C	11: 35,766,723 (GRCm39)	K511E	probably benign	Het
Zfp600	T	C	4: 146,131,741 (GRCm39)		probably null	Het
Zng1	G	T	19: 24,897,994 (GRCm39)	T382K	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
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
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'- AGACTTTGGTAGCCCCATGC -3'
(R):5'- ACCTTCTGGATCAAGTTTCAGC -3'

Sequencing Primer
(F):5'- GCCCCATGCTAGATGACTTCAAG -3'
(R):5'- GTGGTTTCTGATGTCCATCCAAC -3'

Posted On

2016-07-06