Incidental Mutation 'IGL01287:Slfn5'
ID 72756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slfn5
Ensembl Gene ENSMUSG00000054404
Gene Name schlafen 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL01287
Quality Score
Status
Chromosome 11
Chromosomal Location 82842175-82855666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82847807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 231 (T231A)
Ref Sequence ENSEMBL: ENSMUSP00000103793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067443] [ENSMUST00000108157] [ENSMUST00000108158]
AlphaFold Q8CBA2
Predicted Effect probably damaging
Transcript: ENSMUST00000067443
AA Change: T231A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: T231A

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 damaging
Transcript: ENSMUST00000108157
AA Change: T231A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: T231A

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 damaging
Transcript: ENSMUST00000108158
AA Change: T231A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103793
Gene: ENSMUSG00000054404
AA Change: T231A

DomainStartEndE-ValueType
Pfam:AAA_4 187 320 3.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216469
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,040 (GRCm39) K445E probably damaging Het
Abca15 A T 7: 119,932,081 (GRCm39) probably benign Het
Acsbg3 C T 17: 57,189,203 (GRCm39) Q204* probably null Het
Acvr1c A T 2: 58,170,254 (GRCm39) C371* probably null Het
Brs3 T C X: 56,092,727 (GRCm39) probably benign Het
Car14 C T 3: 95,806,871 (GRCm39) V198M possibly damaging Het
Cenpc1 G A 5: 86,170,313 (GRCm39) R704* probably null Het
Crybg1 C T 10: 43,868,490 (GRCm39) R1396H possibly damaging Het
Cubn A G 2: 13,315,377 (GRCm39) S3019P probably damaging Het
Cyp2j9 T C 4: 96,471,665 (GRCm39) E222G probably benign Het
Defb50 C A 8: 22,321,187 (GRCm39) T59K probably benign Het
Dlg3 T C X: 99,850,848 (GRCm39) I587T possibly damaging Het
Doc2a C T 7: 126,450,173 (GRCm39) R204C probably damaging Het
Galc T C 12: 98,212,503 (GRCm39) probably benign Het
Gm8257 A T 14: 44,892,800 (GRCm39) F67I probably damaging Het
Hnrnpul1 A T 7: 25,426,323 (GRCm39) N509K probably damaging Het
Iars2 T A 1: 185,028,625 (GRCm39) I678F possibly damaging Het
Ifit1 A G 19: 34,625,533 (GRCm39) E223G possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrp4 C A 2: 91,304,293 (GRCm39) D157E probably damaging Het
Ltk T A 2: 119,586,186 (GRCm39) T21S probably benign Het
Lvrn A T 18: 46,997,733 (GRCm39) probably benign Het
Maob G A X: 16,578,881 (GRCm39) A424V probably damaging Het
Myo1g C A 11: 6,465,856 (GRCm39) V410F possibly damaging Het
Myorg T A 4: 41,498,923 (GRCm39) I236F possibly damaging Het
Naxe T C 3: 87,963,981 (GRCm39) H250R probably damaging Het
Nek5 T C 8: 22,601,199 (GRCm39) N174S possibly damaging Het
Or2y3 G T 17: 38,392,998 (GRCm39) N290K probably damaging Het
Or51l14 C T 7: 103,101,002 (GRCm39) R153W probably damaging Het
Or9m2 A G 2: 87,821,288 (GRCm39) T278A probably benign Het
Pex1 A G 5: 3,656,027 (GRCm39) T285A probably benign Het
Pfas A G 11: 68,892,086 (GRCm39) S141P probably benign Het
Pmm1 T C 15: 81,839,945 (GRCm39) T127A probably damaging Het
Proc C A 18: 32,256,873 (GRCm39) probably benign Het
Ranbp9 T C 13: 43,633,980 (GRCm39) E142G probably damaging Het
Recql4 C A 15: 76,594,112 (GRCm39) probably benign Het
Robo4 C T 9: 37,324,336 (GRCm39) P955S possibly damaging Het
Ryr3 T A 2: 112,539,418 (GRCm39) N3274I probably damaging Het
Serpinb10 T C 1: 107,468,612 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,404,811 (GRCm39) K848* probably null Het
Syncrip T C 9: 88,338,660 (GRCm39) probably benign Het
Syt16 A T 12: 74,313,513 (GRCm39) T480S probably damaging Het
Taf1c G A 8: 120,327,931 (GRCm39) T293M probably benign Het
Tbc1d5 T C 17: 51,120,826 (GRCm39) D430G possibly damaging Het
Tbx18 T C 9: 87,606,384 (GRCm39) T254A probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Usp17la T C 7: 104,510,522 (GRCm39) S376P probably benign Het
Vmn1r19 A G 6: 57,382,179 (GRCm39) D244G probably damaging Het
Vmn1r58 A T 7: 5,414,054 (GRCm39) F59I probably benign Het
Vmn2r45 A T 7: 8,488,622 (GRCm39) M136K probably benign Het
Vmn2r70 T A 7: 85,218,227 (GRCm39) R24* probably null Het
Vmn2r75 T A 7: 85,797,801 (GRCm39) I671F probably damaging Het
Other mutations in Slfn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07