Mutagenetix > Incidental Mutation

Incidental Mutation 'R1214:Slfn5'

99531

Institutional Source

Beutler Lab

Gene Symbol

Slfn5

Ensembl Gene

ENSMUSG00000054404

Gene Name

schlafen 5

Synonyms

MMRRC Submission

039283-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R1214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82842175-82855666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82850917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 405 (M405V)

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: M405V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: M405V

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: M405V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: M405V

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: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Dcdc2c	A	T	12: 28,580,429 (GRCm39)	Y201*	probably null	Het
Dock9	C	T	14: 121,823,728 (GRCm39)	V1395I	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Micall2	T	C	5: 139,697,396 (GRCm39)	S652G	probably damaging	Het
Or1j13	G	T	2: 36,369,981 (GRCm39)	H54N	possibly damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or4f4b	T	C	2: 111,314,237 (GRCm39)	F154S	probably damaging	Het
Ptpre	A	T	7: 135,280,987 (GRCm39)	S643C	probably damaging	Het
Slc26a5	T	A	5: 22,019,981 (GRCm39)	I530F	probably damaging	Het
Ttc29	A	G	8: 79,052,211 (GRCm39)	Y364C	probably damaging	Het
Tut7	A	G	13: 59,953,140 (GRCm39)	V100A	possibly damaging	Het
Wasf3	G	A	5: 146,407,098 (GRCm39)	V473M	probably damaging	Het

Other mutations in Slfn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Slfn5	APN	11	82,847,807 (GRCm39)	missense	probably damaging	0.97
IGL01773:Slfn5	APN	11	82,852,157 (GRCm39)	missense	probably damaging	1.00
IGL03026:Slfn5	APN	11	82,847,387 (GRCm39)	missense	probably benign
IGL03368:Slfn5	APN	11	82,847,211 (GRCm39)	missense	possibly damaging	0.88
R0531:Slfn5	UTSW	11	82,851,866 (GRCm39)	missense	probably damaging	0.99
R0690:Slfn5	UTSW	11	82,852,229 (GRCm39)	missense	probably damaging	1.00
R0939:Slfn5	UTSW	11	82,852,164 (GRCm39)	missense	probably benign	0.04
R1005:Slfn5	UTSW	11	82,850,984 (GRCm39)	missense	probably damaging	1.00
R1978:Slfn5	UTSW	11	82,847,442 (GRCm39)	missense	probably benign	0.17
R4092:Slfn5	UTSW	11	82,851,893 (GRCm39)	missense	probably damaging	1.00
R4620:Slfn5	UTSW	11	82,852,478 (GRCm39)	missense	probably damaging	1.00
R4789:Slfn5	UTSW	11	82,847,226 (GRCm39)	missense	probably benign	0.00
R5113:Slfn5	UTSW	11	82,852,522 (GRCm39)	missense	probably benign	0.01
R5120:Slfn5	UTSW	11	82,851,754 (GRCm39)	missense	probably damaging	1.00
R5262:Slfn5	UTSW	11	82,847,496 (GRCm39)	missense	possibly damaging	0.56
R5307:Slfn5	UTSW	11	82,847,211 (GRCm39)	missense	probably damaging	0.96
R5451:Slfn5	UTSW	11	82,850,912 (GRCm39)	missense	probably damaging	1.00
R5498:Slfn5	UTSW	11	82,847,973 (GRCm39)	missense	possibly damaging	0.84
R5651:Slfn5	UTSW	11	82,851,490 (GRCm39)	missense	probably benign	0.00
R5777:Slfn5	UTSW	11	82,851,830 (GRCm39)	missense	probably damaging	0.99
R5906:Slfn5	UTSW	11	82,848,102 (GRCm39)	missense	probably benign	0.37
R5934:Slfn5	UTSW	11	82,847,418 (GRCm39)	missense	probably damaging	1.00
R6521:Slfn5	UTSW	11	82,851,241 (GRCm39)	missense	probably damaging	0.99
R6543:Slfn5	UTSW	11	82,849,492 (GRCm39)	splice site	probably null
R6681:Slfn5	UTSW	11	82,847,204 (GRCm39)	missense	possibly damaging	0.73
R7129:Slfn5	UTSW	11	82,851,976 (GRCm39)	nonsense	probably null
R7309:Slfn5	UTSW	11	82,847,529 (GRCm39)	missense	probably damaging	1.00
R7478:Slfn5	UTSW	11	82,851,442 (GRCm39)	missense	probably damaging	1.00
R7573:Slfn5	UTSW	11	82,849,585 (GRCm39)	missense	probably damaging	1.00
R7610:Slfn5	UTSW	11	82,852,310 (GRCm39)	missense	probably damaging	1.00
R7834:Slfn5	UTSW	11	82,851,278 (GRCm39)	missense	possibly damaging	0.88
R7957:Slfn5	UTSW	11	82,847,613 (GRCm39)	missense	probably benign	0.00
R8205:Slfn5	UTSW	11	82,851,544 (GRCm39)	missense	probably benign	0.04
R8264:Slfn5	UTSW	11	82,847,376 (GRCm39)	missense	probably damaging	1.00
R8982:Slfn5	UTSW	11	82,850,966 (GRCm39)	nonsense	probably null
R9130:Slfn5	UTSW	11	82,851,446 (GRCm39)	missense	probably damaging	1.00
R9135:Slfn5	UTSW	11	82,851,503 (GRCm39)	missense	probably benign	0.00
R9209:Slfn5	UTSW	11	82,850,933 (GRCm39)	missense	possibly damaging	0.94
R9454:Slfn5	UTSW	11	82,850,885 (GRCm39)	missense	probably benign	0.03
R9534:Slfn5	UTSW	11	82,849,523 (GRCm39)	missense	probably benign	0.01
R9565:Slfn5	UTSW	11	82,847,699 (GRCm39)	missense	possibly damaging	0.94
R9608:Slfn5	UTSW	11	82,852,321 (GRCm39)	missense	probably benign	0.05
R9608:Slfn5	UTSW	11	82,851,830 (GRCm39)	missense	possibly damaging	0.92
R9686:Slfn5	UTSW	11	82,848,001 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GCTCCCTCAGACTCAAGATTGCTTC -3'
(R):5'- CCCACTTGTTGCAAATGGTGTACAG -3'

Sequencing Primer
(F):5'- ccctctaaatcctgctgcc -3'
(R):5'- ACAGGATTGGAACGTTGTTCG -3'

Posted On

2014-01-15