Incidental Mutation 'IGL01829:Nr1h5'
ID154736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr1h5
Ensembl Gene ENSMUSG00000048938
Gene Namenuclear receptor subfamily 1, group H, member 5
SynonymsFXRB
Accession Numbers

Ncbi RefSeq: NM_198658.2, NM_201619.2, NM_201622.2

Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL01829
Quality Score
Status
Chromosome3
Chromosomal Location102939658-102964133 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102949079 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 295 (I295L)
Ref Sequence ENSEMBL: ENSMUSP00000052557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058899] [ENSMUST00000196135] [ENSMUST00000196983] [ENSMUST00000197412] [ENSMUST00000198472]
Predicted Effect probably benign
Transcript: ENSMUST00000058899
AA Change: I295L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: I295L

DomainStartEndE-ValueType
Blast:HOLI 2 47 5e-9 BLAST
ZnF_C4 119 190 2.51e-36 SMART
HOLI 289 474 1.74e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083774
Predicted Effect probably benign
Transcript: ENSMUST00000196135
AA Change: I237L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: I237L

DomainStartEndE-ValueType
ZnF_C4 78 132 1.17e-7 SMART
HOLI 231 416 1.74e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196983
AA Change: I295L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: I295L

DomainStartEndE-ValueType
Blast:HOLI 2 47 5e-9 BLAST
ZnF_C4 119 190 2.51e-36 SMART
HOLI 289 466 1.76e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197412
AA Change: I295L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: I295L

DomainStartEndE-ValueType
Blast:HOLI 2 47 4e-9 BLAST
ZnF_C4 119 190 1e-38 SMART
Pfam:Hormone_recep 274 362 6e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198472
AA Change: I295L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: I295L

DomainStartEndE-ValueType
Blast:HOLI 2 47 4e-9 BLAST
ZnF_C4 119 190 1e-38 SMART
Pfam:Hormone_recep 273 367 5.8e-6 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bod1l A G 5: 41,820,468 S1168P probably benign Het
Csn1s2a A T 5: 87,786,710 T173S unknown Het
Dchs1 T A 7: 105,755,397 D2646V probably damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah7a G T 1: 53,618,068 R850S possibly damaging Het
Dock2 T C 11: 34,705,841 D396G probably damaging Het
E2f7 A G 10: 110,779,094 Y553C probably benign Het
Elf2 A G 3: 51,308,100 M63T probably damaging Het
Hydin A C 8: 110,589,522 T4349P possibly damaging Het
Kcnk13 T A 12: 100,060,998 probably benign Het
Olfr1413 A T 1: 92,573,329 I53F probably benign Het
Ptprk A G 10: 28,573,387 H986R probably damaging Het
Rufy1 T A 11: 50,416,244 R300* probably null Het
Sfxn4 C A 19: 60,858,734 S37I probably damaging Het
Slc12a9 A T 5: 137,327,365 probably benign Het
Slc37a1 T C 17: 31,322,206 I224T possibly damaging Het
Slc6a6 T C 6: 91,735,189 F233S probably damaging Het
Stard9 A G 2: 120,706,446 K4233E possibly damaging Het
Trp53bp1 A T 2: 121,215,896 M1141K probably benign Het
Ttn T C 2: 76,781,667 D17297G probably damaging Het
Vmn1r12 T C 6: 57,159,664 Y205H probably damaging Het
Vmn1r77 A G 7: 12,041,431 K45E probably damaging Het
Vmn2r-ps159 T C 4: 156,333,319 noncoding transcript Het
Vps13a T C 19: 16,619,443 T3104A probably benign Het
Other mutations in Nr1h5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Nr1h5 APN 3 102947742 intron probably benign
IGL02025:Nr1h5 APN 3 102949626 splice site probably benign
IGL02094:Nr1h5 APN 3 102952196 nonsense probably null
R0035:Nr1h5 UTSW 3 102949573 nonsense probably null
R0035:Nr1h5 UTSW 3 102949573 nonsense probably null
R1200:Nr1h5 UTSW 3 102947862 missense probably damaging 1.00
R1977:Nr1h5 UTSW 3 102947817 missense probably damaging 1.00
R4173:Nr1h5 UTSW 3 102952230 missense probably damaging 1.00
R4556:Nr1h5 UTSW 3 102946141 missense probably benign 0.28
R5018:Nr1h5 UTSW 3 102947795 missense probably damaging 1.00
R5471:Nr1h5 UTSW 3 102949126 missense possibly damaging 0.74
R5617:Nr1h5 UTSW 3 102947829 missense probably damaging 1.00
R5822:Nr1h5 UTSW 3 102949328 missense probably damaging 1.00
R6243:Nr1h5 UTSW 3 102949064 missense probably benign 0.00
R6442:Nr1h5 UTSW 3 102941111 missense probably damaging 1.00
R6754:Nr1h5 UTSW 3 102949597 missense probably damaging 1.00
R6789:Nr1h5 UTSW 3 102958361 missense possibly damaging 0.81
R7235:Nr1h5 UTSW 3 102949042 critical splice donor site probably null
R7294:Nr1h5 UTSW 3 102945262 missense probably benign 0.00
R7756:Nr1h5 UTSW 3 102949609 missense probably benign 0.00
R7882:Nr1h5 UTSW 3 102949615 missense possibly damaging 0.80
R7965:Nr1h5 UTSW 3 102949615 missense possibly damaging 0.80
X0061:Nr1h5 UTSW 3 102945248 splice site probably null
X0067:Nr1h5 UTSW 3 102949126 missense possibly damaging 0.74
Posted On2014-02-04