Mutagenetix > Incidental Mutation

Incidental Mutation 'R5113:Slfn5'

394030

Institutional Source

Beutler Lab

Gene Symbol

Slfn5

Ensembl Gene

ENSMUSG00000054404

Gene Name

schlafen 5

Synonyms

MMRRC Submission

042701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82951349-82964840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82961696 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 883 (V883M)

Ref Sequence

ENSEMBL: ENSMUSP00000103792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067443] [ENSMUST00000108157] [ENSMUST00000108158]

AlphaFold

Q8CBA2

Predicted Effect

probably benign
Transcript: ENSMUST00000067443
AA Change: V883M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: V883M

Domain	Start	End	E-Value	Type
Pfam:AlbA_2	187	319	4.7e-13	PFAM
low complexity region	537	547	N/A	INTRINSIC
Pfam:DUF2075	567	743	4.7e-8	PFAM
transmembrane domain	848	870	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108157
AA Change: V883M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: V883M

Domain	Start	End	E-Value	Type
Pfam:AAA_4	187	320	1.9e-15	PFAM
low complexity region	537	547	N/A	INTRINSIC
Pfam:DUF2075	567	739	9.4e-9	PFAM
transmembrane domain	848	870	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108158

SMART Domains

Protein: ENSMUSP00000103793
Gene: ENSMUSG00000054404

Domain	Start	End	E-Value	Type
Pfam:AAA_4	187	320	3.4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216469

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,315,995	V622A	possibly damaging	Het
Ankef1	A	G	2: 136,552,441	N590S	probably benign	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano3	A	T	2: 110,661,480	N867K	possibly damaging	Het
Ash1l	T	C	3: 89,066,275	V2547A	probably damaging	Het
Ccpg1os	T	A	9: 72,979,893	R111*	probably null	Het
Chil5	A	T	3: 106,017,978	V209E	possibly damaging	Het
Cltc	A	T	11: 86,722,321	C459S	probably damaging	Het
Col6a4	T	A	9: 106,066,960	D1105V	possibly damaging	Het
Cyp2c66	A	G	19: 39,163,438	D199G	probably benign	Het
Cyp4f18	A	G	8: 71,989,058		probably null	Het
Cysrt1	A	T	2: 25,239,351	C50S	possibly damaging	Het
Dapk1	A	G	13: 60,721,778	K278R	probably benign	Het
Eefsec	C	A	6: 88,281,575	S512I	probably damaging	Het
Emilin1	T	C	5: 30,920,620	F908L	possibly damaging	Het
Eml1	T	C	12: 108,537,337	V731A	possibly damaging	Het
Erc2	T	C	14: 27,652,872	S16P	probably benign	Het
Gfpt2	A	G	11: 49,823,799	R342G	probably damaging	Het
Gpr142	A	T	11: 114,804,317	Q36L	probably benign	Het
Grik5	A	G	7: 25,015,527	S681P	probably damaging	Het
Hecw1	A	T	13: 14,346,029	S208T	possibly damaging	Het
Hmgcr	G	A	13: 96,656,732	A464V	probably benign	Het
Igkv2-109	A	G	6: 68,303,085	T97A	possibly damaging	Het
Ino80	G	T	2: 119,431,945	Q687K	probably damaging	Het
Kdm4d	T	C	9: 14,464,113	N150D	probably damaging	Het
Klf4	A	G	4: 55,530,481	I210T	possibly damaging	Het
Klkb1	C	A	8: 45,270,697	Q560H	probably benign	Het
Lce1a2	A	T	3: 92,669,135	V40E	unknown	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Mipol1	C	T	12: 57,496,499	T393I	probably benign	Het
Mst1	A	G	9: 108,082,247	D244G	probably damaging	Het
Nexn	G	A	3: 152,243,888	R258C	probably damaging	Het
Olfr1353	A	G	10: 78,970,203	I185V	probably benign	Het
Olfr748	A	C	14: 50,710,914	I195L	probably benign	Het
Olfr777	A	G	10: 129,268,666	I219T	probably damaging	Het
Olfr975	T	C	9: 39,949,925	N282S	probably damaging	Het
Optc	T	C	1: 133,900,977		probably benign	Het
Pabpc2	C	A	18: 39,775,383	P567Q	probably benign	Het
Ppm1j	A	G	3: 104,784,674	H324R	possibly damaging	Het
Reg3g	A	T	6: 78,466,561		probably null	Het
Sipa1l1	C	T	12: 82,440,908	A1652V	probably benign	Het
Ski	T	C	4: 155,159,392	T554A	probably benign	Het
Stradb	T	C	1: 58,991,174		probably benign	Het
Tex19.1	A	G	11: 121,147,799	T328A	probably benign	Het
Tpsab1	T	C	17: 25,345,399	N27S	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttn	A	T	2: 76,812,900	L13225Q	probably damaging	Het
Vmn1r28	A	G	6: 58,265,858	T229A	probably benign	Het
Wapl	A	G	14: 34,724,754	K600E	probably damaging	Het
Zfp217	T	C	2: 170,114,058		probably null	Het

Other mutations in Slfn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Slfn5	APN	11	82956981	missense	probably damaging	0.97
IGL01773:Slfn5	APN	11	82961331	missense	probably damaging	1.00
IGL03026:Slfn5	APN	11	82956561	missense	probably benign
IGL03368:Slfn5	APN	11	82956385	missense	possibly damaging	0.88
R0531:Slfn5	UTSW	11	82961040	missense	probably damaging	0.99
R0690:Slfn5	UTSW	11	82961403	missense	probably damaging	1.00
R0939:Slfn5	UTSW	11	82961338	missense	probably benign	0.04
R1005:Slfn5	UTSW	11	82960158	missense	probably damaging	1.00
R1214:Slfn5	UTSW	11	82960091	missense	probably benign	0.01
R1978:Slfn5	UTSW	11	82956616	missense	probably benign	0.17
R4092:Slfn5	UTSW	11	82961067	missense	probably damaging	1.00
R4620:Slfn5	UTSW	11	82961652	missense	probably damaging	1.00
R4789:Slfn5	UTSW	11	82956400	missense	probably benign	0.00
R5120:Slfn5	UTSW	11	82960928	missense	probably damaging	1.00
R5262:Slfn5	UTSW	11	82956670	missense	possibly damaging	0.56
R5307:Slfn5	UTSW	11	82956385	missense	probably damaging	0.96
R5451:Slfn5	UTSW	11	82960086	missense	probably damaging	1.00
R5498:Slfn5	UTSW	11	82957147	missense	possibly damaging	0.84
R5651:Slfn5	UTSW	11	82960664	missense	probably benign	0.00
R5777:Slfn5	UTSW	11	82961004	missense	probably damaging	0.99
R5906:Slfn5	UTSW	11	82957276	missense	probably benign	0.37
R5934:Slfn5	UTSW	11	82956592	missense	probably damaging	1.00
R6521:Slfn5	UTSW	11	82960415	missense	probably damaging	0.99
R6543:Slfn5	UTSW	11	82958666	splice site	probably null
R6681:Slfn5	UTSW	11	82956378	missense	possibly damaging	0.73
R7129:Slfn5	UTSW	11	82961150	nonsense	probably null
R7309:Slfn5	UTSW	11	82956703	missense	probably damaging	1.00
R7478:Slfn5	UTSW	11	82960616	missense	probably damaging	1.00
R7573:Slfn5	UTSW	11	82958759	missense	probably damaging	1.00
R7610:Slfn5	UTSW	11	82961484	missense	probably damaging	1.00
R7834:Slfn5	UTSW	11	82960452	missense	possibly damaging	0.88
R7957:Slfn5	UTSW	11	82956787	missense	probably benign	0.00
R8205:Slfn5	UTSW	11	82960718	missense	probably benign	0.04
R8264:Slfn5	UTSW	11	82956550	missense	probably damaging	1.00
R8982:Slfn5	UTSW	11	82960140	nonsense	probably null
R9130:Slfn5	UTSW	11	82960620	missense	probably damaging	1.00
R9135:Slfn5	UTSW	11	82960677	missense	probably benign	0.00
R9209:Slfn5	UTSW	11	82960107	missense	possibly damaging	0.94
R9454:Slfn5	UTSW	11	82960059	missense	probably benign	0.03
R9534:Slfn5	UTSW	11	82958697	missense	probably benign	0.01
R9565:Slfn5	UTSW	11	82956873	missense	possibly damaging	0.94
R9608:Slfn5	UTSW	11	82961004	missense	possibly damaging	0.92
R9608:Slfn5	UTSW	11	82961495	missense	probably benign	0.05
R9686:Slfn5	UTSW	11	82957175	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GGAGCCCAGTTTACTAGTGCAG -3'
(R):5'- TATCTCAGTGCCAGCTAATTGC -3'

Sequencing Primer
(F):5'- CCCAGTTTACTAGTGCAGGTCAG -3'
(R):5'- AATTGCTCTGCTGTCTCTTCCTACTG -3'

Posted On

2016-06-15