Incidental Mutation 'IGL01712:Onecut2'
ID104841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Onecut2
Ensembl Gene ENSMUSG00000045991
Gene Nameone cut domain, family member 2
SynonymsOc2, OC-2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.717) question?
Stock #IGL01712
Quality Score
Status
Chromosome18
Chromosomal Location64340364-64398488 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 64386602 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 478 (S478T)
Ref Sequence ENSEMBL: ENSMUSP00000135692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115145] [ENSMUST00000175965]
Predicted Effect probably benign
Transcript: ENSMUST00000115145
AA Change: S497T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: S497T

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: S478T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: S478T

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Atp11a T A 8: 12,851,138 I989K probably benign Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P119Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Cpa4 A G 6: 30,590,816 D371G possibly damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Grid2 A T 6: 64,665,915 D887V possibly damaging Het
Gtpbp6 A T 5: 110,104,379 I429N probably benign Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L1cam T C X: 73,864,438 Y169C probably damaging Het
L3mbtl3 A T 10: 26,276,235 M821K probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D32E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Sppl2a C T 2: 126,904,903 probably benign Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tmbim7 A G 5: 3,670,074 T116A probably damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I84N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging Het
Other mutations in Onecut2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Onecut2 APN 18 64341089 missense probably damaging 1.00
IGL01925:Onecut2 APN 18 64341514 missense probably damaging 1.00
IGL03105:Onecut2 APN 18 64341508 nonsense probably null
R0197:Onecut2 UTSW 18 64341472 missense possibly damaging 0.91
R0504:Onecut2 UTSW 18 64340749 missense possibly damaging 0.72
R1514:Onecut2 UTSW 18 64341580 missense possibly damaging 0.93
R2314:Onecut2 UTSW 18 64341197 missense probably damaging 0.99
R3923:Onecut2 UTSW 18 64341520 missense probably damaging 0.98
R3924:Onecut2 UTSW 18 64341520 missense probably damaging 0.98
R3925:Onecut2 UTSW 18 64341520 missense probably damaging 0.98
R4888:Onecut2 UTSW 18 64340927 missense possibly damaging 0.86
R5818:Onecut2 UTSW 18 64340975 missense possibly damaging 0.53
R5995:Onecut2 UTSW 18 64341548 missense probably damaging 0.99
R7132:Onecut2 UTSW 18 64340912 missense possibly damaging 0.79
R7232:Onecut2 UTSW 18 64341562 missense probably damaging 1.00
R7250:Onecut2 UTSW 18 64386440 missense probably benign 0.21
R7631:Onecut2 UTSW 18 64340975 missense possibly damaging 0.53
R7887:Onecut2 UTSW 18 64340975 missense possibly damaging 0.53
R7891:Onecut2 UTSW 18 64340975 missense possibly damaging 0.53
R7900:Onecut2 UTSW 18 64341587 missense probably damaging 0.97
R7970:Onecut2 UTSW 18 64340975 missense possibly damaging 0.53
R7974:Onecut2 UTSW 18 64340975 missense possibly damaging 0.53
R7983:Onecut2 UTSW 18 64341587 missense probably damaging 0.97
Z1177:Onecut2 UTSW 18 64341307 missense possibly damaging 0.90
Posted On2014-01-21