Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Slfn5'

639739

Institutional Source

Beutler Lab

Gene Symbol

Slfn5

Ensembl Gene

ENSMUSG00000054404

Gene Name

schlafen 5

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82951349-82964840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82956550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 87 (D87V)

Ref Sequence

ENSEMBL: ENSMUSP00000064819 (fasta)

Gene Model

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

AlphaFold

Q8CBA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000067443
AA Change: D87V

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

SMART Domains

Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: D87V

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 damaging
Transcript: ENSMUST00000108157
AA Change: D87V

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

SMART Domains

Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: D87V

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 damaging
Transcript: ENSMUST00000108158
AA Change: D87V

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

SMART Domains

Protein: ENSMUSP00000103793
Gene: ENSMUSG00000054404
AA Change: D87V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,782	C911S	probably damaging	Het
Abcc4	T	A	14: 118,594,842	N792I	possibly damaging	Het
Acacb	A	T	5: 114,207,366	H960L	probably benign	Het
Aox1	A	G	1: 58,053,714	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,473,566	S18G	probably benign	Het
Chfr	T	A	5: 110,152,434	I348N	possibly damaging	Het
Cntln	G	A	4: 85,098,411	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,807,527	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,744,792	M2896K	probably damaging	Het
Elp6	A	G	9: 110,319,687	T215A	probably damaging	Het
Esyt2	A	C	12: 116,365,920	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,929,393	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,455,032	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Galnt10	A	G	11: 57,782,206	I463V	probably benign	Het
Glce	A	G	9: 62,060,430	F480L	probably benign	Het
H2-Aa	A	G	17: 34,287,735	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,146,526	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,104,112		silent	Het
Izumo4	G	T	10: 80,702,738	G8V		Het
Klk1b5	T	A	7: 44,220,030	L178H	probably damaging	Het
Lama2	T	C	10: 27,467,222	N85D	probably benign	Het
Liph	A	C	16: 21,983,971	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,081,502	V62D	probably damaging	Het
Map3k19	T	A	1: 127,823,791	I303F		Het
Mymk	A	G	2: 27,067,856		probably benign	Het
Myo10	G	A	15: 25,800,109	V1424M	probably damaging	Het
Myof	T	G	19: 37,921,433	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,094,742		probably benign	Het
Nup214	T	A	2: 31,994,726	Y500N	possibly damaging	Het
Olfr1040	T	C	2: 86,146,194	D180G	probably damaging	Het
Papd4	C	T	13: 93,175,569	G208S	probably damaging	Het
Pappa2	T	C	1: 158,854,973	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,756,581	E95G	probably damaging	Het
Phf3	A	T	1: 30,831,057	N303K	possibly damaging	Het
Pnn	C	T	12: 59,072,577	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,152,480	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,333,450	M1762K	possibly damaging	Het
Rif1	G	A	2: 52,090,278	A496T	noncoding transcript	Het
Rnase13	A	T	14: 51,922,457	V75D	probably damaging	Het
Sema3c	G	A	5: 17,676,539		probably benign	Het
Sema4c	C	G	1: 36,552,885	G266R	probably damaging	Het
Smpd3	T	C	8: 106,264,658	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,378,074	V188A	probably benign	Het
Srms	A	G	2: 181,212,550	Y75H	probably benign	Het
Tex15	T	C	8: 33,582,362	S2646P	probably benign	Het
Togaram1	A	G	12: 64,995,556	I1130V	probably benign	Het
Ttf1	A	G	2: 29,064,677	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,768,334	T827K	probably benign	Het
Zfhx2	T	A	14: 55,065,512	T1672S	possibly damaging	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
R5113:Slfn5	UTSW	11	82961696	missense	probably benign	0.01
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
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'- GAAATGGATACCACACACTGCATG -3'
(R):5'- GCGTCATCTACAGGAGCTTC -3'

Sequencing Primer
(F):5'- TGAAACAGAACGAAATCATCTCG -3'
(R):5'- ATTTAGCGAGTCAGAGTCACC -3'

Posted On

2020-07-28