Incidental Mutation 'R1160:Lrif1'
ID100298
Institutional Source Beutler Lab
Gene Symbol Lrif1
Ensembl Gene ENSMUSG00000056260
Gene Nameligand dependent nuclear receptor interacting factor 1
Synonyms2010012G17Rik, 4933421E11Rik
MMRRC Submission 039233-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R1160 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location106684987-106736577 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 106732717 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 373 (N373D)
Ref Sequence ENSEMBL: ENSMUSP00000096346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098750] [ENSMUST00000098751] [ENSMUST00000106736] [ENSMUST00000127003] [ENSMUST00000130105] [ENSMUST00000150513] [ENSMUST00000154973]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098750
AA Change: N373D

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: N373D

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 possibly damaging
Transcript: ENSMUST00000127003
AA Change: N373D

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114163
Gene: ENSMUSG00000056260
AA Change: N373D

DomainStartEndE-ValueType
low complexity region 74 92 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
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 noncoding transcript
Transcript: ENSMUST00000156544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194058
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik C A 3: 88,708,862 P452Q probably damaging Het
Agap1 G T 1: 89,843,154 K622N probably damaging Het
Ap3b2 A T 7: 81,466,169 probably null Het
Arl5b T C 2: 15,069,837 V43A probably benign Het
Astn1 T C 1: 158,600,365 V702A possibly damaging Het
Bach1 T C 16: 87,715,434 V15A probably benign Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Ccar2 C T 14: 70,139,769 V774M probably benign Het
Dcaf5 T C 12: 80,340,215 D379G possibly damaging Het
Dcpp1 T A 17: 23,881,431 I45K possibly damaging Het
Ddx17 T A 15: 79,541,087 S128C probably damaging Het
Eml3 A G 19: 8,933,250 N192S probably benign Het
Epha3 T G 16: 63,773,068 D219A probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Klhl5 A G 5: 65,141,340 N154S probably benign Het
Map3k20 A G 2: 72,441,520 N664S probably benign Het
Olfr625-ps1 A G 7: 103,682,861 N38D possibly damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pglyrp4 T A 3: 90,728,831 probably null Het
Pole A G 5: 110,295,253 E349G possibly damaging Het
Ptprj A G 2: 90,444,524 Y1165H probably damaging Het
Rasd1 T A 11: 59,964,721 I29F possibly damaging Het
Scamp3 T C 3: 89,181,198 F237S probably damaging Het
Sccpdh T G 1: 179,684,210 D82E probably benign Het
Slc19a3 A C 1: 83,022,692 H201Q possibly damaging Het
Slc5a4a G A 10: 76,178,161 A401T possibly damaging Het
Snupn T G 9: 56,957,105 C29W probably benign Het
Sorbs2 A G 8: 45,770,576 Y222C probably damaging Het
Sox17 A T 1: 4,491,852 V310E probably damaging Het
Srgap1 T A 10: 121,855,477 Y284F probably benign Het
Srpk1 C A 17: 28,599,774 V363F probably benign Het
Syt13 T A 2: 92,943,042 probably null Het
Taf2 A G 15: 55,071,397 V45A probably benign Het
Tal1 A T 4: 115,068,616 D294V probably damaging Het
Tbl2 A G 5: 135,159,392 T347A probably benign Het
Tet3 A G 6: 83,404,452 S110P probably benign Het
Tmem132a A G 19: 10,858,574 V864A probably damaging Het
Trak1 T C 9: 121,392,007 I80T probably benign Het
Trappc6b G A 12: 59,050,278 T86I probably damaging Het
Usf3 T A 16: 44,218,547 I1130N probably damaging Het
Xirp2 T C 2: 67,509,887 V824A possibly damaging Het
Zfp810 T C 9: 22,278,532 Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,512 V685E probably damaging Het
Zp2 A T 7: 120,136,045 D368E probably damaging Het
Other mutations in Lrif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Lrif1 APN 3 106734641 critical splice donor site probably null
IGL01121:Lrif1 APN 3 106735664 nonsense probably null
IGL01304:Lrif1 APN 3 106731733 missense probably damaging 1.00
IGL02209:Lrif1 APN 3 106731729 missense probably damaging 1.00
IGL02801:Lrif1 APN 3 106734614 missense possibly damaging 0.89
IGL02796:Lrif1 UTSW 3 106735436 missense probably benign 0.25
R0440:Lrif1 UTSW 3 106734398 missense possibly damaging 0.87
R0456:Lrif1 UTSW 3 106731778 missense probably benign 0.06
R0561:Lrif1 UTSW 3 106732165 missense probably damaging 1.00
R1720:Lrif1 UTSW 3 106733136 missense probably damaging 1.00
R1735:Lrif1 UTSW 3 106735846 makesense probably null
R1843:Lrif1 UTSW 3 106732811 missense probably damaging 0.99
R2016:Lrif1 UTSW 3 106732206 missense possibly damaging 0.94
R2200:Lrif1 UTSW 3 106734558 missense probably damaging 0.98
R3619:Lrif1 UTSW 3 106732546 missense probably damaging 1.00
R4750:Lrif1 UTSW 3 106735564 missense probably benign 0.33
R4878:Lrif1 UTSW 3 106735640 missense probably damaging 1.00
R4945:Lrif1 UTSW 3 106735753 missense probably damaging 1.00
R5286:Lrif1 UTSW 3 106732543 missense probably damaging 0.97
R5682:Lrif1 UTSW 3 106732568 missense possibly damaging 0.70
R6149:Lrif1 UTSW 3 106732327 missense possibly damaging 0.83
R6665:Lrif1 UTSW 3 106735343 intron probably null
R7011:Lrif1 UTSW 3 106732285 missense probably damaging 1.00
R7584:Lrif1 UTSW 3 106731901 missense probably benign 0.32
Z1088:Lrif1 UTSW 3 106732570 missense probably benign
Predicted Primers
Posted On2014-01-15