Incidental Mutation 'R0939:Slfn5'
ID 81317
Institutional Source Beutler Lab
Gene Symbol Slfn5
Ensembl Gene ENSMUSG00000054404
Gene Name schlafen 5
Synonyms
MMRRC Submission 039078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R0939 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 82842175-82855666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 82852164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 763 (M763I)
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: M763I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: M763I

DomainStartEndE-ValueType
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: M763I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: M763I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,902,969 (GRCm39) V419M probably damaging Het
Cdcp1 A G 9: 123,012,755 (GRCm39) V264A probably damaging Het
Cfap53 A G 18: 74,438,801 (GRCm39) D326G probably null Het
Dach1 A G 14: 98,153,360 (GRCm39) V436A probably damaging Het
Dnah11 C T 12: 118,024,142 (GRCm39) G1870S probably damaging Het
Dst C A 1: 34,283,464 (GRCm39) H5324N probably damaging Het
Eapp TTTCTTCTTCTTCTTCTT TTTCTTCTTCTTCTT 12: 54,732,734 (GRCm39) probably benign Het
Esd C A 14: 74,973,467 (GRCm39) H21N probably damaging Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Igdcc4 T A 9: 65,038,755 (GRCm39) probably null Het
Mug1 A T 6: 121,861,308 (GRCm39) I1310F possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Or10a3b T A 7: 108,444,440 (GRCm39) Y259F probably damaging Het
Or10h5 T C 17: 33,434,635 (GRCm39) K231E possibly damaging Het
Or9g19 T A 2: 85,600,997 (GRCm39) L284* probably null Het
Pcdh17 A G 14: 84,685,195 (GRCm39) D554G probably damaging Het
Plcxd3 T A 15: 4,546,344 (GRCm39) L116* probably null Het
Prss1 A C 6: 41,440,522 (GRCm39) D199A probably damaging Het
Rbms3 C T 9: 116,939,028 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rreb1 A G 13: 38,116,207 (GRCm39) M1189V probably benign Het
Slc25a39 T C 11: 102,295,877 (GRCm39) E118G probably damaging Het
Speer4f2 A G 5: 17,579,402 (GRCm39) E67G probably damaging Het
Spef2 A T 15: 9,704,636 (GRCm39) probably null Het
Spocd1 A T 4: 129,842,663 (GRCm39) D26V possibly damaging Het
Ssh1 A G 5: 114,108,497 (GRCm39) L50P probably damaging Het
Tle1 A G 4: 72,036,771 (GRCm39) L728P probably damaging Het
Trio A G 15: 27,741,336 (GRCm39) probably null Het
Tubb1 G A 2: 174,297,549 (GRCm39) E53K probably damaging Het
Vmn2r71 A T 7: 85,272,889 (GRCm39) T568S possibly damaging Het
Other mutations in Slfn5
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1005:Slfn5 UTSW 11 82,850,984 (GRCm39) missense probably damaging 1.00
R1214:Slfn5 UTSW 11 82,850,917 (GRCm39) missense probably benign 0.01
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'- ACACCAGAAGCCGTTATTGAAGCTC -3'
(R):5'- TGCCTGAAAATCGGTGAACACTCTC -3'

Sequencing Primer
(F):5'- GCCGTTATTGAAGCTCACCAG -3'
(R):5'- CCCTGACCTGCACTAGTAAACTG -3'
Posted On 2013-11-07