Incidental Mutation 'R0561:Lrif1'
ID 45859
Institutional Source Beutler Lab
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 # R0561 (G1)
Quality Score 143
Status Not validated
Chromosome 3
Chromosomal Location 106592303-106643893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106639481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 164 (A164S)
Ref Sequence ENSEMBL: ENSMUSP00000115110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098750] [ENSMUST00000098751] [ENSMUST00000106736] [ENSMUST00000127003] [ENSMUST00000130105] [ENSMUST00000150513] [ENSMUST00000154973]
AlphaFold Q8CDD9
Predicted Effect probably damaging
Transcript: ENSMUST00000098750
AA Change: A189S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: A189S

DomainStartEndE-ValueType
Pfam:LRIF1 22 753 1.7e-292 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098751
SMART Domains Protein: ENSMUSP00000096347
Gene: ENSMUSG00000056260

DomainStartEndE-ValueType
low complexity region 104 117 N/A INTRINSIC
coiled coil region 225 257 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106736
SMART Domains Protein: ENSMUSP00000102347
Gene: ENSMUSG00000056260

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 damaging
Transcript: ENSMUST00000127003
AA Change: A189S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114163
Gene: ENSMUSG00000056260
AA Change: A189S

DomainStartEndE-ValueType
low complexity region 74 92 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130105
AA Change: A164S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115110
Gene: ENSMUSG00000056260
AA Change: A164S

DomainStartEndE-ValueType
low complexity region 49 67 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: ENSMUST00000150513
SMART Domains Protein: ENSMUSP00000119815
Gene: ENSMUSG00000056260

DomainStartEndE-ValueType
low complexity region 49 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154973
SMART Domains Protein: ENSMUSP00000120350
Gene: ENSMUSG00000056260

DomainStartEndE-ValueType
low complexity region 49 67 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A G 12: 88,335,204 (GRCm39) D30G possibly damaging Het
Apc A T 18: 34,446,356 (GRCm39) H1050L possibly damaging Het
Armc2 A G 10: 41,869,188 (GRCm39) V166A probably benign Het
Atp6v1b1 A T 6: 83,730,793 (GRCm39) I173F probably damaging Het
Bpifb4 A G 2: 153,786,742 (GRCm39) D298G probably damaging Het
C4b T A 17: 34,953,391 (GRCm39) S1031C probably damaging Het
Calcr A G 6: 3,692,630 (GRCm39) I408T probably damaging Het
Catsperg1 T C 7: 28,881,737 (GRCm39) N1009S probably damaging Het
Ces2a T C 8: 105,464,165 (GRCm39) S266P probably benign Het
Chrna1 A G 2: 73,396,596 (GRCm39) V433A possibly damaging Het
Ctnnb1 G A 9: 120,780,788 (GRCm39) V291M probably damaging Het
Dcbld1 T C 10: 52,138,032 (GRCm39) Y99H probably benign Het
Ddx60 A T 8: 62,470,828 (GRCm39) H1440L possibly damaging Het
Dsg1c A T 18: 20,407,832 (GRCm39) I393L probably benign Het
Eif5 G T 12: 111,506,950 (GRCm39) R128L probably benign Het
Ercc3 A G 18: 32,378,592 (GRCm39) D191G possibly damaging Het
Gp1ba A T 11: 70,530,416 (GRCm39) probably benign Het
Krt24 C T 11: 99,175,439 (GRCm39) E199K probably damaging Het
Map2 A G 1: 66,464,656 (GRCm39) D1682G probably damaging Het
Megf8 C T 7: 25,028,257 (GRCm39) P274S probably benign Het
Mslnl C T 17: 25,962,177 (GRCm39) Q192* probably null Het
Nfkb2 T C 19: 46,298,301 (GRCm39) V535A possibly damaging Het
Or10q1 A T 19: 13,726,662 (GRCm39) Y64F probably damaging Het
Or4a66 A G 2: 88,530,914 (GRCm39) I253T possibly damaging Het
Or4c11 T A 2: 88,695,024 (GRCm39) V25E possibly damaging Het
Or7a37 T A 10: 78,805,729 (GRCm39) L82* probably null Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Or8g22 C T 9: 38,958,669 (GRCm39) M15I probably damaging Het
Pag1 T A 3: 9,764,481 (GRCm39) Y224F probably damaging Het
Pbrm1 A C 14: 30,757,948 (GRCm39) I193L probably benign Het
Phrf1 T C 7: 140,834,876 (GRCm39) V17A probably benign Het
Plekhg2 T G 7: 28,069,908 (GRCm39) T42P probably benign Het
Pmp22 T A 11: 63,025,250 (GRCm39) W28R probably damaging Het
Ppp1r13b A T 12: 111,832,880 (GRCm39) H82Q probably damaging Het
Rgs8 T C 1: 153,541,668 (GRCm39) probably null Het
Rtl1 A G 12: 109,560,363 (GRCm39) V492A probably damaging Het
Slc22a27 A G 19: 7,857,527 (GRCm39) probably null Het
Slx4ip A G 2: 136,908,090 (GRCm39) E79G probably null Het
Syde1 C T 10: 78,425,210 (GRCm39) R267H probably damaging Het
Tas2r114 A G 6: 131,666,758 (GRCm39) I90T probably benign Het
Tjp3 C T 10: 81,109,674 (GRCm39) G843D probably benign Het
Tln1 A T 4: 43,550,304 (GRCm39) M453K possibly damaging Het
Ttc39a A T 4: 109,297,799 (GRCm39) Y408F probably damaging Het
Usp39 T G 6: 72,313,368 (GRCm39) Q274P probably damaging Het
Uvrag C T 7: 98,537,768 (GRCm39) V476I probably damaging Het
Vcan T A 13: 89,860,372 (GRCm39) T332S probably damaging Het
Vcan T A 13: 89,879,583 (GRCm39) H22L possibly damaging Het
Wls A G 3: 159,578,705 (GRCm39) D89G probably benign Het
Zfhx2 A T 14: 55,303,346 (GRCm39) V1546E probably benign Het
Zfp457 T A 13: 67,442,134 (GRCm39) H147L probably damaging 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
IGL02801:Lrif1 APN 3 106,641,930 (GRCm39) missense possibly damaging 0.89
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
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
Predicted Primers PCR Primer
(F):5'- CCACAAGTGCATCTGTTCAATTGCC -3'
(R):5'- AGTGTGTCCTGCCAGAACTGTTG -3'

Sequencing Primer
(F):5'- CTGTGAGGACTGGAAATTTTACACC -3'
(R):5'- GGATTCCAGGCTGTAGATACTCC -3'
Posted On 2013-06-11