Incidental Mutation 'IGL02801:Lrif1'
ID 360212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrif1
Ensembl Gene ENSMUSG00000056260
Gene Name ligand dependent nuclear receptor interacting factor 1
Synonyms 4933421E11Rik, 2010012G17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02801
Quality Score
Status
Chromosome 3
Chromosomal Location 106592303-106643893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106641930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 102 (V102A)
Ref Sequence ENSEMBL: ENSMUSP00000096347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098750] [ENSMUST00000098751] [ENSMUST00000106736] [ENSMUST00000127003] [ENSMUST00000154973] [ENSMUST00000130105] [ENSMUST00000150513]
AlphaFold Q8CDD9
Predicted Effect possibly damaging
Transcript: ENSMUST00000098750
AA Change: V600A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: V600A

DomainStartEndE-ValueType
Pfam:LRIF1 22 753 1.7e-292 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098751
AA Change: V102A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096347
Gene: ENSMUSG00000056260
AA Change: V102A

DomainStartEndE-ValueType
low complexity region 104 117 N/A INTRINSIC
coiled coil region 225 257 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106736
AA Change: V82A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102347
Gene: ENSMUSG00000056260
AA Change: V82A

DomainStartEndE-ValueType
low complexity region 84 97 N/A INTRINSIC
coiled coil region 205 237 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106737
SMART Domains Protein: ENSMUSP00000102348
Gene: ENSMUSG00000056260

DomainStartEndE-ValueType
Pfam:LRIF1 22 347 6.2e-145 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122928
Predicted Effect probably benign
Transcript: ENSMUST00000127003
SMART Domains Protein: ENSMUSP00000114163
Gene: ENSMUSG00000056260

DomainStartEndE-ValueType
low complexity region 74 92 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150888
Predicted Effect probably benign
Transcript: ENSMUST00000154973
SMART Domains Protein: ENSMUSP00000120350
Gene: ENSMUSG00000056260

DomainStartEndE-ValueType
low complexity region 49 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130105
SMART Domains Protein: ENSMUSP00000115110
Gene: ENSMUSG00000056260

DomainStartEndE-ValueType
low complexity region 49 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150513
SMART Domains Protein: ENSMUSP00000119815
Gene: ENSMUSG00000056260

DomainStartEndE-ValueType
low complexity region 49 67 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,375,769 (GRCm39) K400N probably benign Het
Aox1 A T 1: 58,393,336 (GRCm39) I1193F probably damaging Het
Arhgef16 A T 4: 154,375,964 (GRCm39) L10Q probably damaging Het
Arl10 T C 13: 54,723,696 (GRCm39) V106A probably benign Het
Bmi1 T C 2: 18,686,692 (GRCm39) Y24H probably damaging Het
Cd163 T A 6: 124,297,488 (GRCm39) I878K probably benign Het
Col12a1 A G 9: 79,515,696 (GRCm39) probably null Het
Csmd2 T C 4: 128,445,868 (GRCm39) probably null Het
Dcp2 G T 18: 44,550,778 (GRCm39) M417I probably damaging Het
Ddx11 T A 17: 66,455,028 (GRCm39) C662S probably benign Het
Dhx29 G A 13: 113,101,180 (GRCm39) C1241Y probably damaging Het
Dnajc6 C T 4: 101,455,010 (GRCm39) P37L probably benign Het
Dqx1 A G 6: 83,037,476 (GRCm39) probably null Het
Dzip1 T A 14: 119,123,067 (GRCm39) K643* probably null Het
Ecel1 A G 1: 87,079,725 (GRCm39) S463P probably damaging Het
Eml5 A G 12: 98,784,104 (GRCm39) V1361A possibly damaging Het
Fads2 C A 19: 10,060,009 (GRCm39) A222S possibly damaging Het
Fancd2 A G 6: 113,570,278 (GRCm39) N1410D probably benign Het
Fbxw16 A G 9: 109,270,144 (GRCm39) F199S possibly damaging Het
Frem2 A G 3: 53,559,596 (GRCm39) V1637A possibly damaging Het
Gabrg2 A G 11: 41,803,220 (GRCm39) S442P probably damaging Het
Gprin3 T C 6: 59,331,966 (GRCm39) T114A possibly damaging Het
Hoxd8 A G 2: 74,536,912 (GRCm39) E27G probably damaging Het
Isl2 A G 9: 55,452,816 (GRCm39) probably null Het
Lamc2 T A 1: 153,012,529 (GRCm39) H715L probably benign Het
Lrrc39 A G 3: 116,371,995 (GRCm39) N254S possibly damaging Het
Med13l T C 5: 118,883,178 (GRCm39) W1346R probably damaging Het
Melk T C 4: 44,360,930 (GRCm39) I570T probably damaging Het
Mlkl G A 8: 112,043,064 (GRCm39) T361M probably benign Het
Myo1f T A 17: 33,797,111 (GRCm39) M94K probably damaging Het
Naip1 A G 13: 100,580,876 (GRCm39) C124R probably damaging Het
Nek1 G A 8: 61,574,095 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Pde1c G T 6: 56,150,651 (GRCm39) N289K probably damaging Het
Pfas G A 11: 68,879,103 (GRCm39) probably benign Het
Pms2 A T 5: 143,862,653 (GRCm39) I587F probably benign Het
Ppargc1b T C 18: 61,440,755 (GRCm39) E721G possibly damaging Het
Ppp2r1b A G 9: 50,790,127 (GRCm39) I435V probably benign Het
Psip1 C T 4: 83,376,357 (GRCm39) S494N probably benign Het
Ranbp3 T C 17: 57,017,766 (GRCm39) V474A probably benign Het
Rnf220 C T 4: 117,130,448 (GRCm39) C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 (GRCm39) I99V probably benign Het
Slc36a1 A T 11: 55,116,879 (GRCm39) I303F probably benign Het
Slc4a1 C T 11: 102,249,972 (GRCm39) probably null Het
Syncrip A T 9: 88,361,862 (GRCm39) D84E probably damaging Het
Tbc1d9b T C 11: 50,043,657 (GRCm39) Y593H probably damaging Het
Tenm2 G T 11: 35,937,857 (GRCm39) Y1605* probably null Het
Tmem135 T A 7: 88,803,333 (GRCm39) H280L probably benign Het
Tmem229a T A 6: 24,955,121 (GRCm39) Q211L probably benign Het
Txlna T C 4: 129,534,201 (GRCm39) D5G probably damaging Het
Vmn2r57 T C 7: 41,098,056 (GRCm39) I4V probably benign Het
Wdfy3 A G 5: 102,055,453 (GRCm39) L1539S probably damaging Het
Zdhhc14 T G 17: 5,777,094 (GRCm39) probably null Het
Other mutations in Lrif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Lrif1 APN 3 106,641,957 (GRCm39) critical splice donor site probably null
IGL01121:Lrif1 APN 3 106,642,980 (GRCm39) nonsense probably null
IGL01304:Lrif1 APN 3 106,639,049 (GRCm39) missense probably damaging 1.00
IGL02209:Lrif1 APN 3 106,639,045 (GRCm39) missense probably damaging 1.00
IGL02796:Lrif1 UTSW 3 106,642,752 (GRCm39) missense probably benign 0.25
R0440:Lrif1 UTSW 3 106,641,714 (GRCm39) missense possibly damaging 0.87
R0456:Lrif1 UTSW 3 106,639,094 (GRCm39) missense probably benign 0.06
R0561:Lrif1 UTSW 3 106,639,481 (GRCm39) missense probably damaging 1.00
R1160:Lrif1 UTSW 3 106,640,033 (GRCm39) missense possibly damaging 0.95
R1720:Lrif1 UTSW 3 106,640,452 (GRCm39) missense probably damaging 1.00
R1735:Lrif1 UTSW 3 106,643,162 (GRCm39) makesense probably null
R1843:Lrif1 UTSW 3 106,640,127 (GRCm39) missense probably damaging 0.99
R2016:Lrif1 UTSW 3 106,639,522 (GRCm39) missense possibly damaging 0.94
R2200:Lrif1 UTSW 3 106,641,874 (GRCm39) missense probably damaging 0.98
R3619:Lrif1 UTSW 3 106,639,862 (GRCm39) missense probably damaging 1.00
R4750:Lrif1 UTSW 3 106,642,880 (GRCm39) missense probably benign 0.33
R4878:Lrif1 UTSW 3 106,642,956 (GRCm39) missense probably damaging 1.00
R4945:Lrif1 UTSW 3 106,643,069 (GRCm39) missense probably damaging 1.00
R5286:Lrif1 UTSW 3 106,639,859 (GRCm39) missense probably damaging 0.97
R5682:Lrif1 UTSW 3 106,639,884 (GRCm39) missense possibly damaging 0.70
R6149:Lrif1 UTSW 3 106,639,643 (GRCm39) missense possibly damaging 0.83
R6665:Lrif1 UTSW 3 106,642,659 (GRCm39) splice site probably null
R7011:Lrif1 UTSW 3 106,639,601 (GRCm39) missense probably damaging 1.00
R7584:Lrif1 UTSW 3 106,639,217 (GRCm39) missense probably benign 0.32
R7869:Lrif1 UTSW 3 106,640,459 (GRCm39) critical splice donor site probably null
R8247:Lrif1 UTSW 3 106,641,692 (GRCm39) missense probably damaging 1.00
R8686:Lrif1 UTSW 3 106,640,097 (GRCm39) missense probably damaging 1.00
R9001:Lrif1 UTSW 3 106,641,860 (GRCm39) missense probably benign 0.00
R9347:Lrif1 UTSW 3 106,641,674 (GRCm39) missense possibly damaging 0.71
R9612:Lrif1 UTSW 3 106,639,200 (GRCm39) missense probably damaging 0.99
Z1088:Lrif1 UTSW 3 106,639,886 (GRCm39) missense probably benign
Posted On 2015-12-18