Incidental Mutation 'IGL01566:Nr6a1'
ID90991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr6a1
Ensembl Gene ENSMUSG00000063972
Gene Namenuclear receptor subfamily 6, group A, member 1
Synonyms1700113M01Rik, Gcnf, NCNF
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01566
Quality Score
Status
Chromosome2
Chromosomal Location38723370-38927688 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 38727889 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 419 (Q419K)
Ref Sequence ENSEMBL: ENSMUSP00000126009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076275] [ENSMUST00000112877] [ENSMUST00000168098]
Predicted Effect probably benign
Transcript: ENSMUST00000076275
AA Change: Q476K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000075624
Gene: ENSMUSG00000063972
AA Change: Q476K

DomainStartEndE-ValueType
low complexity region 23 31 N/A INTRINSIC
ZnF_C4 72 143 9.35e-36 SMART
low complexity region 202 216 N/A INTRINSIC
HOLI 304 466 3.19e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112877
AA Change: Q476K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108498
Gene: ENSMUSG00000063972
AA Change: Q476K

DomainStartEndE-ValueType
low complexity region 23 31 N/A INTRINSIC
ZnF_C4 72 143 9.35e-36 SMART
low complexity region 202 216 N/A INTRINSIC
HOLI 304 466 3.19e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168098
AA Change: Q419K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126009
Gene: ENSMUSG00000063972
AA Change: Q419K

DomainStartEndE-ValueType
ZnF_C4 15 86 9.35e-36 SMART
low complexity region 145 159 N/A INTRINSIC
HOLI 247 409 3.19e-29 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for targeted null mutations have cardiovascular abnormalities, defective trunk development, impaired somite formation, failure to turn, open neural tube and hindgut, protrusion of the tailbud outside the yolk sac and die by embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik G A 6: 73,468,690 T292I probably damaging Het
AB124611 T C 9: 21,535,989 V149A possibly damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dhdds T C 4: 133,991,337 I162V probably damaging Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Pcolce A G 5: 137,605,160 probably benign Het
Ppp2cb C A 8: 33,611,763 R110S probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
St8sia4 G T 1: 95,653,757 R87S probably benign Het
Tfdp2 A G 9: 96,295,030 E5G probably damaging Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Ubqln1 A T 13: 58,179,667 probably null Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in Nr6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02245:Nr6a1 APN 2 38740553 missense probably benign 0.04
IGL03195:Nr6a1 APN 2 38742936 missense probably damaging 1.00
R0270:Nr6a1 UTSW 2 38739020 missense possibly damaging 0.75
R0909:Nr6a1 UTSW 2 38885206 missense probably benign 0.11
R1737:Nr6a1 UTSW 2 38738943 missense probably benign 0.04
R5918:Nr6a1 UTSW 2 38739091 missense probably damaging 1.00
R6210:Nr6a1 UTSW 2 38729497 missense probably damaging 0.99
R6311:Nr6a1 UTSW 2 38739071 missense possibly damaging 0.69
R6861:Nr6a1 UTSW 2 38740585 missense possibly damaging 0.71
R6978:Nr6a1 UTSW 2 38872619 missense probably benign
R7566:Nr6a1 UTSW 2 38731073 missense possibly damaging 0.77
R8177:Nr6a1 UTSW 2 38729498 missense probably benign 0.02
R8441:Nr6a1 UTSW 2 38742876 missense probably benign 0.05
Posted On2013-12-09