Incidental Mutation 'IGL03105:Onecut2'
ID 418936
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 # IGL03105
Quality Score
Status
Chromosome 18
Chromosomal Location 64473098-64531559 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 64474579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 358 (K358*)
Ref Sequence ENSEMBL: ENSMUSP00000135692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115145] [ENSMUST00000175965]
AlphaFold Q6XBJ3
Predicted Effect probably null
Transcript: ENSMUST00000115145
AA Change: K377*
SMART Domains Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: K377*

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 null
Transcript: ENSMUST00000175965
AA Change: K358*
SMART Domains Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: K358*

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
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Onecut2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Onecut2 APN 18 64,474,160 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02