Incidental Mutation 'R6669:Cnst'
ID 528044
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R6669 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 179432638 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153962
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACTTTTGGGTTGCCTGAGAAGC -3'
(R):5'- GTTAGAAGGATCCTCGAAGCC -3'

Sequencing Primer
(F):5'- TTGCCTGAGAAGCTAGCTG -3'
(R):5'- AGGATCCTCGAAGCCTATGG -3'
Posted On 2018-07-24