Incidental Mutation 'IGL01350:Onecut2'
ID 75330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Onecut2
Ensembl Gene ENSMUSG00000045991
Gene Name one cut domain, family member 2
Synonyms OC-2, Oc2
Accession Numbers
Essential gene? Probably essential (E-score: 0.765) question?
Stock # IGL01350
Quality Score
Status
Chromosome 18
Chromosomal Location 64473098-64531559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64474160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 218 (L218Q)
Ref Sequence ENSEMBL: ENSMUSP00000135692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115145] [ENSMUST00000175965]
AlphaFold Q6XBJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000115145
AA Change: L237Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: L237Q

DomainStartEndE-ValueType
low complexity region 34 56 N/A INTRINSIC
low complexity region 92 111 N/A INTRINSIC
low complexity region 146 158 N/A INTRINSIC
low complexity region 167 185 N/A INTRINSIC
low complexity region 311 323 N/A INTRINSIC
CUT 326 411 1e-42 SMART
HOX 427 489 2.63e-12 SMART
low complexity region 491 501 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000175965
AA Change: L218Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: L218Q

DomainStartEndE-ValueType
low complexity region 15 37 N/A INTRINSIC
low complexity region 73 92 N/A INTRINSIC
low complexity region 127 139 N/A INTRINSIC
low complexity region 148 166 N/A INTRINSIC
low complexity region 292 304 N/A INTRINSIC
CUT 307 392 1e-42 SMART
HOX 408 470 2.63e-12 SMART
low complexity region 472 482 N/A INTRINSIC
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 a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in abnormal bile duct development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,208 (GRCm39) I926T probably benign Het
Adam39 T A 8: 41,278,876 (GRCm39) C422* probably null Het
Aldh1l1 A G 6: 90,536,338 (GRCm39) N81S probably damaging Het
Amd1 A T 10: 40,166,186 (GRCm39) Y264* probably null Het
Axl T C 7: 25,458,175 (GRCm39) Y851C probably damaging Het
Ccdc70 T C 8: 22,463,690 (GRCm39) L160P probably damaging Het
Cd2ap A T 17: 43,136,812 (GRCm39) Y273* probably null Het
Cyb5rl T C 4: 106,941,409 (GRCm39) V278A possibly damaging Het
Cyp2c29 T C 19: 39,318,771 (GRCm39) F417S probably damaging Het
Dnah7b C A 1: 46,120,592 (GRCm39) probably benign Het
Epha4 A T 1: 77,483,492 (GRCm39) D172E probably damaging Het
Eya4 T A 10: 22,989,873 (GRCm39) I495F possibly damaging Het
Gpr150 A T 13: 76,204,542 (GRCm39) H134Q probably benign Het
Gpr153 T G 4: 152,366,423 (GRCm39) probably benign Het
Hipk2 A G 6: 38,795,250 (GRCm39) Y333H probably damaging Het
Jakmip1 T C 5: 37,242,775 (GRCm39) M21T probably benign Het
Kcnh3 A T 15: 99,139,873 (GRCm39) I920F probably benign Het
Lrp2 G A 2: 69,341,328 (GRCm39) R951C probably damaging Het
Msi1 A G 5: 115,573,580 (GRCm39) K126R possibly damaging Het
Nkx2-6 T A 14: 69,412,222 (GRCm39) F130Y probably damaging Het
Or12j4 G T 7: 140,046,292 (GRCm39) M59I probably damaging Het
Or5p6 T C 7: 107,630,887 (GRCm39) Y221C probably damaging Het
Or8j3 A G 2: 86,028,149 (GRCm39) *316Q probably null Het
Pah T A 10: 87,414,221 (GRCm39) probably benign Het
Per2 C T 1: 91,358,583 (GRCm39) E602K probably damaging Het
Plb1 C T 5: 32,474,408 (GRCm39) T623M probably damaging Het
Prkaa2 T C 4: 104,909,109 (GRCm39) probably null Het
Prl7b1 T A 13: 27,786,804 (GRCm39) T142S probably damaging Het
Psd3 T C 8: 68,173,544 (GRCm39) H1090R probably damaging Het
Siglecf G T 7: 43,005,319 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,746 (GRCm39) V105A probably damaging Het
Thnsl1 T C 2: 21,217,011 (GRCm39) V255A probably benign Het
Tmprss5 T A 9: 49,020,757 (GRCm39) *84K probably null Het
Trrap C T 5: 144,767,779 (GRCm39) L2579F possibly damaging Het
Vdac1 A G 11: 52,276,489 (GRCm39) T211A probably benign Het
Vmn1r16 A T 6: 57,299,716 (GRCm39) V302D possibly damaging Het
Wdr75 T A 1: 45,857,420 (GRCm39) C572* probably null Het
Xpc A G 6: 91,476,993 (GRCm39) S369P probably benign Het
Zdhhc20 A G 14: 58,111,444 (GRCm39) V52A probably benign Het
Zfp977 T C 7: 42,230,090 (GRCm39) Y145C probably damaging Het
Other mutations in Onecut2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Onecut2 APN 18 64,519,673 (GRCm39) missense probably damaging 0.97
IGL01925:Onecut2 APN 18 64,474,585 (GRCm39) missense probably damaging 1.00
IGL03105:Onecut2 APN 18 64,474,579 (GRCm39) nonsense probably null
R0197:Onecut2 UTSW 18 64,474,543 (GRCm39) missense possibly damaging 0.91
R0504:Onecut2 UTSW 18 64,473,820 (GRCm39) missense possibly damaging 0.72
R1514:Onecut2 UTSW 18 64,474,651 (GRCm39) missense possibly damaging 0.93
R2314:Onecut2 UTSW 18 64,474,268 (GRCm39) missense probably damaging 0.99
R3923:Onecut2 UTSW 18 64,474,591 (GRCm39) missense probably damaging 0.98
R3924:Onecut2 UTSW 18 64,474,591 (GRCm39) missense probably damaging 0.98
R3925:Onecut2 UTSW 18 64,474,591 (GRCm39) missense probably damaging 0.98
R4888:Onecut2 UTSW 18 64,473,998 (GRCm39) missense possibly damaging 0.86
R5818:Onecut2 UTSW 18 64,474,046 (GRCm39) missense possibly damaging 0.53
R5995:Onecut2 UTSW 18 64,474,619 (GRCm39) missense probably damaging 0.99
R7132:Onecut2 UTSW 18 64,473,983 (GRCm39) missense possibly damaging 0.79
R7232:Onecut2 UTSW 18 64,474,633 (GRCm39) missense probably damaging 1.00
R7250:Onecut2 UTSW 18 64,519,511 (GRCm39) missense probably benign 0.21
R7631:Onecut2 UTSW 18 64,474,046 (GRCm39) missense possibly damaging 0.53
R7887:Onecut2 UTSW 18 64,474,046 (GRCm39) missense possibly damaging 0.53
R7891:Onecut2 UTSW 18 64,474,046 (GRCm39) missense possibly damaging 0.53
R7900:Onecut2 UTSW 18 64,474,658 (GRCm39) missense probably damaging 0.97
R8176:Onecut2 UTSW 18 64,473,931 (GRCm39) missense possibly damaging 0.62
R9189:Onecut2 UTSW 18 64,473,890 (GRCm39) missense probably damaging 1.00
Z1177:Onecut2 UTSW 18 64,474,378 (GRCm39) missense possibly damaging 0.90
Posted On 2013-10-07