Incidental Mutation 'IGL00917:Cnst'
ID 26631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL00917
Quality Score
Status
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 179452557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect probably benign
Transcript: ENSMUST00000040706
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949

DomainStartEndE-ValueType
low complexity region 109 126 N/A INTRINSIC
low complexity region 142 150 N/A INTRINSIC
low complexity region 555 566 N/A INTRINSIC
Pfam:Consortin_C 598 709 3.4e-56 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,241,107 (GRCm39) V26E probably benign Het
Adcy4 T A 14: 56,011,120 (GRCm39) probably null Het
Adgrl3 C T 5: 81,841,421 (GRCm39) T766I possibly damaging Het
Atad2b A T 12: 5,015,837 (GRCm39) probably benign Het
Atp8b4 A T 2: 126,216,453 (GRCm39) S664R probably benign Het
Cand1 A C 10: 119,046,841 (GRCm39) I883S possibly damaging Het
Cfap53 A G 18: 74,432,367 (GRCm39) D85G probably benign Het
Chd4 G A 6: 125,081,909 (GRCm39) R514Q possibly damaging Het
Col6a6 T C 9: 105,661,453 (GRCm39) probably benign Het
Cux2 A C 5: 122,007,168 (GRCm39) L831R probably null Het
Elf2 T A 3: 51,215,467 (GRCm39) probably benign Het
Frey1 T A 2: 92,213,563 (GRCm39) S39T probably benign Het
Glp1r A G 17: 31,138,443 (GRCm39) probably benign Het
Hus1b A G 13: 31,131,527 (GRCm39) M44T probably benign Het
Mbd6 A G 10: 127,119,988 (GRCm39) probably benign Het
Med31 T A 11: 72,102,905 (GRCm39) probably null Het
Mmrn1 C T 6: 60,952,894 (GRCm39) Q392* probably null Het
Mrpl3 T G 9: 104,934,240 (GRCm39) V121G probably damaging Het
Or10am5 A G 7: 6,517,577 (GRCm39) S284P probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Palld A G 8: 61,968,969 (GRCm39) V879A possibly damaging Het
Pkn2 G T 3: 142,559,386 (GRCm39) D46E probably damaging Het
Prkdc T A 16: 15,557,428 (GRCm39) C2244S probably damaging Het
Prss50 T A 9: 110,691,474 (GRCm39) H259Q possibly damaging Het
Rab8b C T 9: 66,761,969 (GRCm39) W102* probably null Het
Rad54l2 A T 9: 106,587,638 (GRCm39) L709Q possibly damaging Het
Rapgef1 T C 2: 29,592,535 (GRCm39) V471A probably benign Het
Rbms3 A G 9: 116,939,183 (GRCm39) S27P probably damaging Het
Rpl35a A G 16: 32,879,101 (GRCm39) K73E possibly damaging Het
Sugct A T 13: 17,032,503 (GRCm39) Y416* probably null Het
Top2b A G 14: 16,407,354 (GRCm38) I713V probably benign Het
Unc79 A T 12: 103,054,766 (GRCm39) R777S possibly damaging Het
Vps37a T A 8: 40,993,779 (GRCm39) M258K probably benign Het
Zfp944 G A 17: 22,558,765 (GRCm39) L161F probably benign Het
Other mutations in Cnst
AlleleSourceChrCoordTypePredicted EffectPPH Score
Doldrums UTSW 1 179,432,638 (GRCm39) splice site probably null
ennui UTSW 1 179,434,100 (GRCm39) critical splice donor site probably null
R0360:Cnst UTSW 1 179,407,100 (GRCm39) missense probably benign 0.00
R1391:Cnst UTSW 1 179,407,051 (GRCm39) missense possibly damaging 0.81
R1743:Cnst UTSW 1 179,437,957 (GRCm39) missense probably benign 0.18
R1909:Cnst UTSW 1 179,450,356 (GRCm39) missense probably damaging 1.00
R3856:Cnst UTSW 1 179,407,279 (GRCm39) missense probably benign 0.02
R4565:Cnst UTSW 1 179,432,114 (GRCm39) missense probably damaging 1.00
R5041:Cnst UTSW 1 179,432,593 (GRCm39) missense probably damaging 0.99
R5072:Cnst UTSW 1 179,450,451 (GRCm39) missense possibly damaging 0.61
R5087:Cnst UTSW 1 179,450,378 (GRCm39) missense possibly damaging 0.82
R5294:Cnst UTSW 1 179,438,005 (GRCm39) missense probably benign 0.03
R5349:Cnst UTSW 1 179,450,462 (GRCm39) missense possibly damaging 0.58
R5394:Cnst UTSW 1 179,429,301 (GRCm39) splice site probably benign
R6020:Cnst UTSW 1 179,437,440 (GRCm39) missense probably benign
R6198:Cnst UTSW 1 179,420,430 (GRCm39) missense probably damaging 1.00
R6669:Cnst UTSW 1 179,432,638 (GRCm39) splice site probably null
R6767:Cnst UTSW 1 179,437,519 (GRCm39) missense possibly damaging 0.92
R7007:Cnst UTSW 1 179,438,133 (GRCm39) missense probably damaging 1.00
R7179:Cnst UTSW 1 179,406,947 (GRCm39) start gained probably benign
R7356:Cnst UTSW 1 179,434,095 (GRCm39) missense probably benign 0.01
R7730:Cnst UTSW 1 179,452,650 (GRCm39) missense probably damaging 1.00
R7900:Cnst UTSW 1 179,450,453 (GRCm39) missense probably damaging 1.00
R8073:Cnst UTSW 1 179,434,002 (GRCm39) missense probably benign 0.00
R8194:Cnst UTSW 1 179,437,759 (GRCm39) missense probably benign 0.00
R8738:Cnst UTSW 1 179,420,274 (GRCm39) missense probably benign 0.00
R8857:Cnst UTSW 1 179,437,878 (GRCm39) missense probably damaging 1.00
R9035:Cnst UTSW 1 179,437,587 (GRCm39) missense possibly damaging 0.94
R9062:Cnst UTSW 1 179,434,100 (GRCm39) critical splice donor site probably null
R9106:Cnst UTSW 1 179,432,162 (GRCm39) missense probably damaging 1.00
R9190:Cnst UTSW 1 179,407,039 (GRCm39) small deletion probably benign
R9287:Cnst UTSW 1 179,407,108 (GRCm39) missense possibly damaging 0.61
R9429:Cnst UTSW 1 179,432,566 (GRCm39) missense probably damaging 1.00
Z1088:Cnst UTSW 1 179,407,130 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17