Incidental Mutation 'IGL01799:Evc'
ID155440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Evc
Ensembl Gene ENSMUSG00000029122
Gene NameEvC ciliary complex subunit 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.191) question?
Stock #IGL01799
Quality Score
Status
Chromosome5
Chromosomal Location37289098-37336894 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37324914 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 32 (I32V)
Ref Sequence ENSEMBL: ENSMUSP00000109791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000114148] [ENSMUST00000114154]
Predicted Effect probably benign
Transcript: ENSMUST00000031005
AA Change: I209V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: I209V

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 benign
Transcript: ENSMUST00000114148
AA Change: I209V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: I209V

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 possibly damaging
Transcript: ENSMUST00000114154
AA Change: I32V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: I32V

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T A 13: 4,514,258 probably null Het
Anp32a A G 9: 62,371,810 T35A probably benign Het
Dennd1a A G 2: 38,048,742 Y119H probably damaging Het
Fbll1 A C 11: 35,798,109 V109G possibly damaging Het
Gli3 T C 13: 15,726,161 S1378P probably benign Het
Gm7257 T C 9: 36,432,883 L54P possibly damaging Het
Hcfc2 G A 10: 82,700,991 C79Y probably damaging Het
Hdac5 A T 11: 102,200,085 I741N possibly damaging Het
Heatr5a T C 12: 51,897,835 D1289G probably benign Het
Hyal5 T A 6: 24,891,337 N383K probably benign Het
Itsn1 T C 16: 91,848,882 L59P probably damaging Het
Lrrc8b T A 5: 105,485,891 L743Q probably benign Het
Minos1 G T 4: 139,103,997 probably benign Het
Mks1 A T 11: 87,856,863 I191F probably benign Het
Mrc1 T A 2: 14,238,376 N104K probably damaging Het
Ms4a6d A T 19: 11,590,135 I26N probably damaging Het
Mup17 T C 4: 61,593,711 T109A probably benign Het
Mylk4 T G 13: 32,781,691 E9A probably benign Het
Myo7b C T 18: 31,962,770 V1812M probably damaging Het
Nbas T C 12: 13,324,400 probably benign Het
Ncoa2 T C 1: 13,152,375 probably benign Het
Nlrp4f T C 13: 65,187,462 H771R probably benign Het
Olfr1012 T A 2: 85,759,642 I245F probably benign Het
Opa1 T C 16: 29,616,658 V642A possibly damaging Het
Pi4ka C A 16: 17,389,371 L23F probably damaging Het
Rerg T A 6: 137,056,378 K100* probably null Het
Sema6c T C 3: 95,170,831 V506A probably damaging Het
Slc15a1 T G 14: 121,480,729 N246T possibly damaging Het
Sorcs1 A G 19: 50,230,209 probably null Het
Vmn2r118 A G 17: 55,592,990 L638P probably damaging Het
Vmn2r80 G A 10: 79,171,551 G454S possibly damaging Het
Other mutations in Evc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Evc APN 5 37333013 missense probably damaging 1.00
IGL01806:Evc APN 5 37320234 critical splice donor site probably null
IGL01823:Evc APN 5 37328521 missense probably damaging 1.00
IGL02821:Evc APN 5 37326396 missense probably benign 0.01
R0312:Evc UTSW 5 37328541 missense possibly damaging 0.83
R0355:Evc UTSW 5 37316312 splice site probably benign
R0741:Evc UTSW 5 37326395 missense possibly damaging 0.51
R0745:Evc UTSW 5 37319059 missense probably damaging 0.99
R1498:Evc UTSW 5 37323700 missense possibly damaging 0.66
R1517:Evc UTSW 5 37319035 missense probably damaging 1.00
R2680:Evc UTSW 5 37310237 missense probably benign
R2867:Evc UTSW 5 37316275 intron probably benign
R4585:Evc UTSW 5 37323713 missense probably damaging 0.96
R4586:Evc UTSW 5 37323713 missense probably damaging 0.96
R4731:Evc UTSW 5 37323797 missense probably benign 0.38
R4859:Evc UTSW 5 37300909 missense probably damaging 0.96
R4963:Evc UTSW 5 37322049 critical splice donor site probably null
R5536:Evc UTSW 5 37326583 splice site probably benign
R5693:Evc UTSW 5 37320240 missense possibly damaging 0.46
R5781:Evc UTSW 5 37326570 missense probably damaging 1.00
R6251:Evc UTSW 5 37300499 missense probably benign
R7061:Evc UTSW 5 37319102 missense possibly damaging 0.66
R7286:Evc UTSW 5 37322183 nonsense probably null
R7503:Evc UTSW 5 37300767 missense unknown
R7831:Evc UTSW 5 37319083 missense probably damaging 1.00
R8344:Evc UTSW 5 37314528 missense possibly damaging 0.90
R8853:Evc UTSW 5 37303303 missense possibly damaging 0.66
X0012:Evc UTSW 5 37300729 intron probably benign
Posted On2014-02-04