Incidental Mutation 'IGL01823:Evc'
ID 154594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Evc
Ensembl Gene ENSMUSG00000029122
Gene Name EvC ciliary complex subunit 1
Synonyms Ellis van Creveld gene syndrome
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL01823
Quality Score
Status
Chromosome 5
Chromosomal Location 37446442-37494238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37485865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 104 (N104D)
Ref Sequence ENSEMBL: ENSMUSP00000109785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000114148] [ENSMUST00000114154]
AlphaFold P57680
Predicted Effect possibly damaging
Transcript: ENSMUST00000031005
AA Change: N104D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: N104D

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 77 92 N/A INTRINSIC
low complexity region 173 183 N/A INTRINSIC
low complexity region 449 472 N/A INTRINSIC
low complexity region 640 652 N/A INTRINSIC
low complexity region 670 682 N/A INTRINSIC
coiled coil region 694 725 N/A INTRINSIC
low complexity region 772 786 N/A INTRINSIC
coiled coil region 871 911 N/A INTRINSIC
low complexity region 927 944 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114148
AA Change: N104D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: N104D

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 77 92 N/A INTRINSIC
low complexity region 173 183 N/A INTRINSIC
low complexity region 449 472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114154
SMART Domains Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122

DomainStartEndE-ValueType
low complexity region 272 295 N/A INTRINSIC
low complexity region 463 475 N/A INTRINSIC
low complexity region 493 505 N/A INTRINSIC
coiled coil region 517 548 N/A INTRINSIC
low complexity region 595 609 N/A INTRINSIC
coiled coil region 694 734 N/A INTRINSIC
low complexity region 750 767 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133376
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 protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp6 A G 13: 38,682,798 (GRCm39) T460A probably damaging Het
Cd209a T C 8: 3,798,851 (GRCm39) probably benign Het
Dock2 A G 11: 34,212,391 (GRCm39) L1250P probably damaging Het
Fam161a A T 11: 22,965,785 (GRCm39) E26V probably damaging Het
Foxa3 T C 7: 18,748,443 (GRCm39) T228A probably benign Het
Gm8206 A T 14: 6,017,078 (GRCm38) D133E probably benign Het
Ighv1-15 T A 12: 114,621,212 (GRCm39) T38S probably benign Het
Ikzf1 A G 11: 11,719,091 (GRCm39) D266G possibly damaging Het
Man2a1 T C 17: 64,973,819 (GRCm39) I365T probably damaging Het
Mcm4 T C 16: 15,443,995 (GRCm39) D756G probably damaging Het
Mroh9 G A 1: 162,883,178 (GRCm39) L434F probably benign Het
Or13p4 A G 4: 118,546,918 (GRCm39) C244R probably damaging Het
Or14c45 T C 7: 86,176,249 (GRCm39) C95R probably damaging Het
Phldb2 T A 16: 45,645,507 (GRCm39) Y313F probably damaging Het
Psd4 A G 2: 24,284,444 (GRCm39) S103G probably benign Het
Ripk4 T C 16: 97,556,483 (GRCm39) I87V possibly damaging Het
Scn9a A T 2: 66,314,386 (GRCm39) F1766L probably damaging Het
Slc10a5 A T 3: 10,399,574 (GRCm39) V362D possibly damaging Het
Slc12a3 A G 8: 95,083,724 (GRCm39) D917G probably benign Het
Slc30a4 A G 2: 122,544,012 (GRCm39) V110A probably damaging Het
Slc30a8 A G 15: 52,159,358 (GRCm39) probably benign Het
Slc5a8 T A 10: 88,755,334 (GRCm39) C480* probably null Het
Tmppe A G 9: 114,234,175 (GRCm39) K158R probably benign Het
Tubb6 A G 18: 67,535,343 (GRCm39) N414S probably damaging Het
Wnt8a A T 18: 34,677,846 (GRCm39) T85S possibly damaging Het
Other mutations in Evc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Evc APN 5 37,490,357 (GRCm39) missense probably damaging 1.00
IGL01799:Evc APN 5 37,482,258 (GRCm39) missense possibly damaging 0.46
IGL01806:Evc APN 5 37,477,578 (GRCm39) critical splice donor site probably null
IGL02821:Evc APN 5 37,483,740 (GRCm39) missense probably benign 0.01
R0312:Evc UTSW 5 37,485,885 (GRCm39) missense possibly damaging 0.83
R0355:Evc UTSW 5 37,473,656 (GRCm39) splice site probably benign
R0741:Evc UTSW 5 37,483,739 (GRCm39) missense possibly damaging 0.51
R0745:Evc UTSW 5 37,476,403 (GRCm39) missense probably damaging 0.99
R1498:Evc UTSW 5 37,481,044 (GRCm39) missense possibly damaging 0.66
R1517:Evc UTSW 5 37,476,379 (GRCm39) missense probably damaging 1.00
R2680:Evc UTSW 5 37,467,581 (GRCm39) missense probably benign
R2867:Evc UTSW 5 37,473,619 (GRCm39) intron probably benign
R4585:Evc UTSW 5 37,481,057 (GRCm39) missense probably damaging 0.96
R4586:Evc UTSW 5 37,481,057 (GRCm39) missense probably damaging 0.96
R4731:Evc UTSW 5 37,481,141 (GRCm39) missense probably benign 0.38
R4859:Evc UTSW 5 37,458,253 (GRCm39) missense probably damaging 0.96
R4963:Evc UTSW 5 37,479,393 (GRCm39) critical splice donor site probably null
R5536:Evc UTSW 5 37,483,927 (GRCm39) splice site probably benign
R5693:Evc UTSW 5 37,477,584 (GRCm39) missense possibly damaging 0.46
R5781:Evc UTSW 5 37,483,914 (GRCm39) missense probably damaging 1.00
R6251:Evc UTSW 5 37,457,843 (GRCm39) missense probably benign
R7061:Evc UTSW 5 37,476,446 (GRCm39) missense possibly damaging 0.66
R7286:Evc UTSW 5 37,479,527 (GRCm39) nonsense probably null
R7503:Evc UTSW 5 37,458,111 (GRCm39) missense unknown
R7831:Evc UTSW 5 37,476,427 (GRCm39) missense probably damaging 1.00
R8344:Evc UTSW 5 37,471,872 (GRCm39) missense possibly damaging 0.90
R8853:Evc UTSW 5 37,460,647 (GRCm39) missense possibly damaging 0.66
R9222:Evc UTSW 5 37,477,650 (GRCm39) missense probably benign 0.04
R9396:Evc UTSW 5 37,476,434 (GRCm39) missense possibly damaging 0.66
R9583:Evc UTSW 5 37,473,701 (GRCm39) nonsense probably null
R9650:Evc UTSW 5 37,458,162 (GRCm39) missense probably damaging 0.96
X0012:Evc UTSW 5 37,458,073 (GRCm39) intron probably benign
Posted On 2014-02-04