Incidental Mutation 'R9062:Cnst'
ID 689008
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 068888-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R9062 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 179434100 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 null
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
Meta Mutation Damage Score 0.9504 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 A G 2: 91,740,662 (GRCm39) E1047G possibly damaging Het
Ankfn1 T G 11: 89,325,583 (GRCm39) I530L probably benign Het
Apob A T 12: 8,058,046 (GRCm39) Y2176F possibly damaging Het
Atp5f1a C T 18: 77,866,459 (GRCm39) R171* probably null Het
Atxn10 T C 15: 85,275,918 (GRCm39) V325A probably benign Het
B3galt1 T C 2: 67,948,890 (GRCm39) Y202H Het
Calhm1 A T 19: 47,129,828 (GRCm39) D231E possibly damaging Het
Cel C A 2: 28,451,214 (GRCm39) V48F probably benign Het
Cep78 T A 19: 15,956,318 (GRCm39) Y207F probably benign Het
Cpeb2 C A 5: 43,391,171 (GRCm39) N122K Het
Cyth1 T C 11: 118,023,142 (GRCm39) Q432R unknown Het
Eif2ak1 T C 5: 143,803,548 (GRCm39) probably benign Het
Eif6 T C 2: 155,665,928 (GRCm39) T76A probably benign Het
Etfrf1 A T 6: 145,161,153 (GRCm39) N41I probably damaging Het
Etl4 T G 2: 20,748,616 (GRCm39) L318R probably damaging Het
Fam151a G T 4: 106,605,306 (GRCm39) W556L probably benign Het
Gas2l1 A G 11: 5,011,497 (GRCm39) V444A probably benign Het
Gbp8 A G 5: 105,179,124 (GRCm39) I125T possibly damaging Het
Jrkl A G 9: 13,245,338 (GRCm39) F108L probably benign Het
Kif13a G T 13: 46,941,536 (GRCm39) D980E possibly damaging Het
Leng9 C T 7: 4,151,666 (GRCm39) A337T probably damaging Het
Lipo3 A C 19: 33,757,714 (GRCm39) C252G probably damaging Het
Lrp4 C A 2: 91,303,925 (GRCm39) D113E possibly damaging Het
Mapk8ip1 T C 2: 92,217,527 (GRCm39) Y265C probably damaging Het
Mios A T 6: 8,233,221 (GRCm39) I790F probably benign Het
Mlf2 G A 6: 124,911,334 (GRCm39) silent Het
Mycbp2 T A 14: 103,479,796 (GRCm39) Y1226F probably benign Het
Ncoa6 T A 2: 155,263,348 (GRCm39) Q362L probably benign Het
Notch3 T C 17: 32,341,692 (GRCm39) D2020G possibly damaging Het
Or4a73 T C 2: 89,420,923 (GRCm39) M179V probably benign Het
Or4c111 T A 2: 88,843,548 (GRCm39) T287S probably damaging Het
Or52z1 T A 7: 103,437,155 (GRCm39) I110L probably benign Het
Or8d1b A T 9: 38,887,421 (GRCm39) I150F probably benign Het
Otop2 C A 11: 115,214,465 (GRCm39) A74E probably benign Het
Pgm1 T C 4: 99,843,954 (GRCm39) I579T probably damaging Het
Preb A G 5: 31,116,196 (GRCm39) V137A probably benign Het
Psap G T 10: 60,131,738 (GRCm39) V244L possibly damaging Het
Setbp1 A G 18: 78,900,266 (GRCm39) S1134P probably benign Het
Skp2 G T 15: 9,113,821 (GRCm39) P399Q probably damaging Het
Slc47a1 T G 11: 61,253,924 (GRCm39) I222L probably benign Het
Spata31h1 A G 10: 82,126,945 (GRCm39) W2022R probably benign Het
Spef2 A G 15: 9,601,717 (GRCm39) L1515S unknown Het
Sri T C 5: 8,106,625 (GRCm39) Y13H unknown Het
Tcf25 T C 8: 124,116,448 (GRCm39) F248L Het
Tdrd12 T C 7: 35,179,694 (GRCm39) T885A unknown Het
Ttn T C 2: 76,600,944 (GRCm39) T18813A probably damaging Het
Usp42 A G 5: 143,703,740 (GRCm39) V441A possibly damaging Het
Vwa1 A T 4: 155,854,820 (GRCm39) S405T probably benign Het
Zbbx A T 3: 74,989,124 (GRCm39) H326Q possibly damaging Het
Zfp64 T C 2: 168,767,747 (GRCm39) T622A probably benign Het
Zfp677 T G 17: 21,612,815 (GRCm39) probably null Het
Other mutations in Cnst
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Cnst APN 1 179,452,557 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCCTGCAGTTTTCTAGCTTAATAC -3'
(R):5'- CCAAAGCTATTTCAGACCACTCTG -3'

Sequencing Primer
(F):5'- TTTTAGACAGCGCCTGTG -3'
(R):5'- GCTATTTCAGACCACTCTGTATAATC -3'
Posted On 2021-11-19