Incidental Mutation 'IGL02821:Evc'
ID 361026
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 # IGL02821
Quality Score
Status
Chromosome 5
Chromosomal Location 37446442-37494238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37483740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 187 (I187F)
Ref Sequence ENSEMBL: ENSMUSP00000031005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000114148] [ENSMUST00000114154]
AlphaFold P57680
Predicted Effect probably benign
Transcript: ENSMUST00000031005
AA Change: I187F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: I187F

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: I187F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: I187F

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
AA Change: I10F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: I10F

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik T C 14: 35,818,473 (GRCm39) L157S probably benign Het
Adam15 A G 3: 89,252,663 (GRCm39) S309P probably damaging Het
Agtpbp1 A T 13: 59,630,415 (GRCm39) M772K possibly damaging Het
Ankfn1 T C 11: 89,282,442 (GRCm39) M402V probably benign Het
Anln G A 9: 22,269,418 (GRCm39) T822I possibly damaging Het
Atp13a4 A G 16: 29,260,125 (GRCm39) V589A probably benign Het
Ccm2l C T 2: 152,909,779 (GRCm39) L44F probably damaging Het
Cd177 A T 7: 24,443,818 (GRCm39) L760Q probably damaging Het
Cd177 G T 7: 24,443,819 (GRCm39) L760M probably damaging Het
Cfap69 T C 5: 5,714,017 (GRCm39) E5G probably benign Het
Col4a1 G A 8: 11,271,375 (GRCm39) T753I probably benign Het
Col6a3 T A 1: 90,731,600 (GRCm39) D1551V probably damaging Het
Ddx20 A G 3: 105,586,593 (GRCm39) V584A probably benign Het
Dop1a C A 9: 86,402,209 (GRCm39) H1136Q probably benign Het
Egf T C 3: 129,496,128 (GRCm39) E329G probably damaging Het
Eif3c A G 7: 126,157,831 (GRCm39) V337A probably benign Het
Eif3f G T 7: 108,533,881 (GRCm39) probably benign Het
Eif3f C T 7: 108,533,882 (GRCm39) probably benign Het
Fam117a T G 11: 95,254,815 (GRCm39) probably benign Het
H2-M10.4 A T 17: 36,771,323 (GRCm39) V285E probably damaging Het
Hps4 G T 5: 112,523,307 (GRCm39) M608I probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Itgam A T 7: 127,675,281 (GRCm39) M169L probably damaging Het
Kcnn3 G A 3: 89,570,029 (GRCm39) G614D possibly damaging Het
Kcnn3 A G 3: 89,428,281 (GRCm39) N169S possibly damaging Het
Mn1 A T 5: 111,569,717 (GRCm39) K1229M probably damaging Het
Ms4a19 A G 19: 11,118,897 (GRCm39) *71Q probably null Het
Nckap5 A G 1: 125,955,553 (GRCm39) M401T probably damaging Het
Or1af1 T C 2: 37,110,112 (GRCm39) S204P probably damaging Het
Or8c13 T C 9: 38,091,964 (GRCm39) N52D possibly damaging Het
Or8d4 T G 9: 40,038,561 (GRCm39) E232A probably benign Het
Pttg1ip2 G A 5: 5,502,039 (GRCm39) Q138* probably null Het
Sim2 G A 16: 93,898,047 (GRCm39) V94M probably damaging Het
Slc46a3 G A 5: 147,822,822 (GRCm39) T340M probably benign Het
Ssc4d A G 5: 135,994,923 (GRCm39) probably benign Het
Trav12-1 A G 14: 53,775,916 (GRCm39) D22G probably damaging Het
Trgv4 T A 13: 19,369,422 (GRCm39) D55E possibly damaging Het
Trps1 G A 15: 50,524,273 (GRCm39) T969M probably damaging Het
Ttn T A 2: 76,719,894 (GRCm39) probably benign Het
Ubqln4 A G 3: 88,470,458 (GRCm39) N310S probably benign Het
Vapa T C 17: 65,889,756 (GRCm39) probably benign Het
Vmn1r65 T C 7: 6,011,893 (GRCm39) T114A possibly damaging Het
Vps13d T C 4: 144,875,332 (GRCm39) E1725G probably damaging Het
Vps53 A G 11: 76,027,143 (GRCm39) probably benign Het
Xkr9 T C 1: 13,742,799 (GRCm39) L28P probably 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
IGL01823:Evc APN 5 37,485,865 (GRCm39) missense probably damaging 1.00
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 2015-12-18