Mutagenetix > Incidental Mutation

Incidental Mutation 'R5823:Slfn8'

450045

Institutional Source

Beutler Lab

Gene Symbol

Slfn8

Ensembl Gene

ENSMUSG00000035208

Gene Name

schlafen 8

Synonyms

MMRRC Submission

043215-MU

Accession Numbers

Essential gene?

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

Stock #

R5823 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82892984-82911636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82907562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 327 (I327T)

Ref Sequence

ENSEMBL: ENSMUSP00000149800 (fasta)

Gene Model

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

AlphaFold

B1ARD8

Predicted Effect

probably benign
Transcript: ENSMUST00000038141
AA Change: I327T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: I327T

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: I327T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: I327T

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: I327T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: I327T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130822
AA Change: I327T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: I327T

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: I148T

SMART Domains

Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: I148T

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: I327T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acsl3	G	T	1: 78,666,003 (GRCm39)	R143L	probably benign	Het
Ankrd11	A	T	8: 123,622,529 (GRCm39)	I420K	probably benign	Het
Aoc1l2	T	A	6: 48,907,486 (GRCm39)	I162N	probably damaging	Het
Cwh43	A	G	5: 73,569,213 (GRCm39)	E85G	probably benign	Het
Dnah1	G	T	14: 30,988,375 (GRCm39)	F3442L	possibly damaging	Het
Dock6	T	A	9: 21,716,124 (GRCm39)	N1737I	probably damaging	Het
Fcf1	A	G	12: 85,020,921 (GRCm39)	Y55C	possibly damaging	Het
Fer1l6	T	A	15: 58,462,352 (GRCm39)	Y802*	probably null	Het
Fgf9	T	G	14: 58,320,759 (GRCm39)	S10A	probably damaging	Het
Fhad1	A	G	4: 141,682,617 (GRCm39)	I508T	possibly damaging	Het
Flnc	T	C	6: 29,461,201 (GRCm39)	V2692A	probably damaging	Het
Gm38119	G	T	3: 92,645,380 (GRCm39)	H71Q	unknown	Het
Hcn1	A	T	13: 117,739,388 (GRCm39)	H50L	unknown	Het
Helz2	T	C	2: 180,878,189 (GRCm39)	T870A	possibly damaging	Het
Iqcf4	T	C	9: 106,445,800 (GRCm39)	I116V	probably benign	Het
Lama5	T	A	2: 179,834,285 (GRCm39)	I1383F	probably benign	Het
Lmo2	C	T	2: 103,811,417 (GRCm39)	T150I	probably damaging	Het
Mgat4f	T	A	1: 134,318,655 (GRCm39)	W476R	probably damaging	Het
Myh13	A	G	11: 67,251,294 (GRCm39)	E1391G	probably damaging	Het
Mylk	T	A	16: 34,715,317 (GRCm39)		probably null	Het
Nat10	A	T	2: 103,560,612 (GRCm39)	V731D	probably damaging	Het
Ncapd2	A	G	6: 125,145,663 (GRCm39)	V1328A	probably benign	Het
Nfu1	C	A	6: 87,002,541 (GRCm39)	Q207K	probably damaging	Het
Nipsnap2	T	A	5: 129,816,833 (GRCm39)		probably null	Het
Npc1	T	C	18: 12,324,846 (GRCm39)	K1216E	possibly damaging	Het
Or2r3	C	A	6: 42,448,906 (GRCm39)	V69L	probably benign	Het
Phf3	T	C	1: 30,843,764 (GRCm39)	I1732V	probably damaging	Het
Rasgrp4	G	T	7: 28,837,142 (GRCm39)	R67L	probably benign	Het
Rubcn	T	C	16: 32,670,091 (GRCm39)	D88G	probably damaging	Het
Slc30a2	T	C	4: 134,073,289 (GRCm39)	I112T	probably damaging	Het
Slc35d2	A	G	13: 64,268,419 (GRCm39)	I78T	probably damaging	Het
Slc9a4	T	A	1: 40,658,277 (GRCm39)	M600K	probably damaging	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tex15	A	G	8: 34,060,962 (GRCm39)	I405V	possibly damaging	Het
Thsd7b	T	C	1: 129,605,821 (GRCm39)	S521P	probably benign	Het
Trim36	A	G	18: 46,302,407 (GRCm39)	L535P	probably damaging	Het
Trim63	A	T	4: 134,043,842 (GRCm39)	I102F	probably damaging	Het
Wdr47	G	A	3: 108,550,401 (GRCm39)	V809M	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
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
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'- TCAGTGGGTGTAATGAACTCAG -3'
(R):5'- GGATGCCCAAAAGACAACGTTG -3'

Sequencing Primer
(F):5'- GGGTGTAATGAACTCAGATTTCCAG -3'
(R):5'- GACCGTGACTCTTTGAAAACTGTG -3'

Posted On

2016-12-20