Incidental Mutation 'R5394:Cnst'
ID 426000
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 042966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5394 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 179429301 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153962
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (96/99)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,356,363 (GRCm39) F182L probably damaging Het
4930503B20Rik T C 3: 146,356,713 (GRCm39) Y65C probably damaging Het
4930590J08Rik A G 6: 91,896,174 (GRCm39) T341A probably benign Het
Adamts13 G A 2: 26,876,570 (GRCm39) V495I probably benign Het
Alms1 C A 6: 85,600,070 (GRCm39) T2101K probably benign Het
Als2 T C 1: 59,214,105 (GRCm39) D1361G probably benign Het
Ankdd1a A T 9: 65,412,496 (GRCm39) M275K probably benign Het
Arfip2 A T 7: 105,286,183 (GRCm39) Y161* probably null Het
Asap3 A T 4: 135,968,570 (GRCm39) E707D probably benign Het
Atm C T 9: 53,419,077 (GRCm39) probably null Het
Atp9b A T 18: 80,820,052 (GRCm39) S577R probably benign Het
Bltp1 G T 3: 36,971,817 (GRCm39) V517F probably damaging Het
Camk1d G C 2: 5,308,177 (GRCm39) D274E probably benign Het
Cebpz C T 17: 79,229,634 (GRCm39) D907N probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cog2 G T 8: 125,259,268 (GRCm39) V196L probably benign Het
Col11a1 A G 3: 113,987,833 (GRCm39) probably null Het
Cops6 T A 5: 138,161,762 (GRCm39) probably null Het
Cspg4 A G 9: 56,797,484 (GRCm39) E1316G probably damaging Het
Cwc22 G C 2: 77,759,683 (GRCm39) D122E possibly damaging Het
Dapk2 G A 9: 66,176,000 (GRCm39) V300M probably benign Het
Dcp1b C A 6: 119,152,328 (GRCm39) D25E probably damaging Het
Ddx10 A T 9: 53,145,157 (GRCm39) Y273* probably null Het
Dhx58 T C 11: 100,589,034 (GRCm39) E504G probably benign Het
Dync2h1 C T 9: 7,120,899 (GRCm39) W2129* probably null Het
Egr4 A T 6: 85,489,442 (GRCm39) L206Q probably damaging Het
Eif4g3 A G 4: 137,830,709 (GRCm39) probably null Het
Fbxo46 A G 7: 18,870,541 (GRCm39) N387D possibly damaging Het
Fpr-rs3 T G 17: 20,844,470 (GRCm39) M224L probably benign Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gxylt2 A G 6: 100,682,075 (GRCm39) K91E probably benign Het
Hecw1 A T 13: 14,497,174 (GRCm39) V278E probably damaging Het
Hydin A G 8: 111,266,474 (GRCm39) probably null Het
Iars1 T C 13: 49,875,641 (GRCm39) L776P probably damaging Het
Kcnh2 T A 5: 24,537,039 (GRCm39) T182S probably benign Het
Kplce T C 3: 92,776,005 (GRCm39) E226G probably damaging Het
Lats2 T G 14: 57,928,810 (GRCm39) S1022R probably benign Het
Lef1 C T 3: 130,988,308 (GRCm39) P264S probably damaging Het
Lyrm1 A C 7: 119,513,471 (GRCm39) I79L possibly damaging Het
Macroh2a2 G A 10: 61,587,466 (GRCm39) T156M possibly damaging Het
Man2b2 T G 5: 36,971,862 (GRCm39) Q618P probably benign Het
Mei1 T C 15: 81,976,957 (GRCm39) V180A possibly damaging Het
Mmp15 A T 8: 96,093,032 (GRCm39) N137I probably damaging Het
Mms22l A G 4: 24,517,115 (GRCm39) D222G possibly damaging Het
Mmut T A 17: 41,258,075 (GRCm39) S414T probably benign Het
Myo18a T C 11: 77,744,176 (GRCm39) M1846T probably benign Het
Neo1 A T 9: 58,897,517 (GRCm39) N146K probably benign Het
Nos3 A G 5: 24,588,888 (GRCm39) T1174A probably benign Het
Or10d4b A T 9: 39,534,430 (GRCm39) T4S probably benign Het
Or10x1 T C 1: 174,196,836 (GRCm39) Y118H probably damaging Het
Or4c125 A T 2: 89,169,806 (GRCm39) I280N probably damaging Het
Or51f1 A T 7: 102,505,686 (GRCm39) S268T probably damaging Het
Pax8 A T 2: 24,332,922 (GRCm39) probably benign Het
Pde5a G A 3: 122,611,658 (GRCm39) C532Y probably damaging Het
Pigq T C 17: 26,150,446 (GRCm39) D442G possibly damaging Het
Pik3c2g T C 6: 139,665,808 (GRCm39) V43A probably benign Het
Pik3cb T C 9: 98,970,716 (GRCm39) N325S probably benign Het
Pot1b T C 17: 56,007,063 (GRCm39) K18R probably benign Het
Ppp1r42 A T 1: 10,069,630 (GRCm39) L144Q probably damaging Het
Prdm13 T A 4: 21,679,455 (GRCm39) Q345L unknown Het
Pyroxd2 T A 19: 42,728,898 (GRCm39) K167N probably benign Het
Rnf123 T C 9: 107,947,930 (GRCm39) Y131C probably damaging Het
Rnf25 T C 1: 74,634,411 (GRCm39) D204G probably damaging Het
Rpf2 G A 10: 40,109,181 (GRCm39) T60I possibly damaging Het
Scaf11 T C 15: 96,317,339 (GRCm39) N742D probably benign Het
Shank1 G A 7: 44,002,075 (GRCm39) D1257N possibly damaging Het
Shc2 A G 10: 79,465,933 (GRCm39) V168A probably damaging Het
Slc16a4 G A 3: 107,199,758 (GRCm39) V2M probably benign Het
Slc24a3 T C 2: 145,455,494 (GRCm39) V461A probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slc4a4 T A 5: 89,345,623 (GRCm39) probably null Het
Snx30 T A 4: 59,879,329 (GRCm39) D189E probably benign Het
Sspo A G 6: 48,472,194 (GRCm39) Q4653R possibly damaging Het
Tpte G T 8: 22,817,806 (GRCm39) R264I probably damaging Het
Tsc22d4 T A 5: 137,757,036 (GRCm39) probably benign Het
Ubn1 T C 16: 4,892,233 (GRCm39) L585P possibly damaging Het
Usp24 A T 4: 106,265,210 (GRCm39) D1781V probably damaging Het
Utp20 A T 10: 88,608,777 (GRCm39) Y1514* probably null Het
Vmn1r55 A T 7: 5,149,995 (GRCm39) Y143N probably damaging Het
Vmn2r65 A G 7: 84,595,862 (GRCm39) V274A probably benign Het
Wdr17 A G 8: 55,092,524 (GRCm39) S1087P possibly damaging Het
Wnt5b C A 6: 119,417,283 (GRCm39) R156L probably damaging Het
Zan T C 5: 137,433,896 (GRCm39) D2279G unknown Het
Zan T C 5: 137,462,336 (GRCm39) T948A unknown Het
Zfp758 T C 17: 22,591,049 (GRCm39) S4P probably damaging Het
Zfp839 A G 12: 110,822,020 (GRCm39) E278G probably benign Het
Zfp994 T A 17: 22,419,506 (GRCm39) H481L probably damaging Het
Zswim9 G A 7: 12,994,909 (GRCm39) R416C 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
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
Predicted Primers PCR Primer
(F):5'- GCTAAAGGGTACTTGTGCTAGC -3'
(R):5'- TCTGGAGTGACCTGTTTCCTAC -3'

Sequencing Primer
(F):5'- TAGCTTTGCTGACGGAGACC -3'
(R):5'- GGAGTGACCTGTTTCCTACACTTTG -3'
Posted On 2016-08-04