Incidental Mutation 'R7061:Evc'
ID 548255
Institutional Source Beutler Lab
Gene Symbol Evc
Ensembl Gene ENSMUSG00000029122
Gene Name EvC ciliary complex subunit 1
Synonyms Ellis van Creveld gene syndrome
MMRRC Submission 045384-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7061 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 37446442-37494238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37476446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 368 (T368A)
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: T368A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: T368A

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 possibly damaging
Transcript: ENSMUST00000114148
AA Change: T368A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: T368A

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: T191A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: T191A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (68/69)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aard G A 15: 51,903,617 (GRCm39) M13I probably benign Het
Abcb5 A C 12: 118,841,509 (GRCm39) Y979D probably damaging Het
Adgrb1 G C 15: 74,441,730 (GRCm39) V4L probably benign Het
Ap3b2 C T 7: 81,110,757 (GRCm39) R1006Q unknown Het
Bpifa6 A T 2: 153,834,236 (GRCm39) T343S probably benign Het
Celsr3 T A 9: 108,724,793 (GRCm39) C2957* probably null Het
Chd6 G A 2: 160,867,885 (GRCm39) Q428* probably null Het
Col5a1 C A 2: 27,915,690 (GRCm39) C191* probably null Het
Cpox A G 16: 58,491,223 (GRCm39) I145V possibly damaging Het
Csnk2a1 C T 2: 152,116,091 (GRCm39) R268C probably benign Het
Dclk2 A G 3: 86,739,038 (GRCm39) probably null Het
Dennd5a T C 7: 109,504,386 (GRCm39) E909G probably benign Het
Depdc1a T A 3: 159,228,489 (GRCm39) S414T possibly damaging Het
Dock5 A G 14: 68,007,703 (GRCm39) F1502S probably damaging Het
Dop1b G T 16: 93,558,951 (GRCm39) A448S probably benign Het
Dsg1c C A 18: 20,410,066 (GRCm39) N511K probably benign Het
Epc2 G T 2: 49,425,334 (GRCm39) R108L probably damaging Het
Erp44 T A 4: 48,219,375 (GRCm39) I147F probably benign Het
Fbxo41 G T 6: 85,452,448 (GRCm39) R738S probably benign Het
Fli1 T C 9: 32,335,518 (GRCm39) T305A probably damaging Het
Grk5 A G 19: 61,034,530 (GRCm39) T93A probably benign Het
Grm2 A T 9: 106,528,424 (GRCm39) N153K probably damaging Het
Helz A G 11: 107,540,003 (GRCm39) T1007A possibly damaging Het
Helz2 A G 2: 180,882,307 (GRCm39) L162P probably damaging Het
Hmgcr T A 13: 96,802,656 (GRCm39) Q81L possibly damaging Het
Hnrnpu T C 1: 178,163,691 (GRCm39) K218E unknown Het
Hydin A T 8: 111,329,920 (GRCm39) I4885F possibly damaging Het
Ibsp A G 5: 104,457,768 (GRCm39) probably null Het
Igfals T C 17: 25,099,281 (GRCm39) L124P probably damaging Het
Il24 T A 1: 130,811,108 (GRCm39) H142L possibly damaging Het
Iqca1l A G 5: 24,750,063 (GRCm39) M660T probably benign Het
Kcnh2 A T 5: 24,536,920 (GRCm39) H221Q probably benign Het
Man1a A G 10: 53,796,331 (GRCm39) S454P probably damaging Het
Meiosin A T 7: 18,834,053 (GRCm39) probably benign Het
Mfsd4b1 C T 10: 39,879,382 (GRCm39) V172M possibly damaging Het
Mical2 T A 7: 111,946,008 (GRCm39) I763K probably benign Het
Mybpc3 A G 2: 90,955,749 (GRCm39) I594M possibly damaging Het
Neo1 T A 9: 58,897,724 (GRCm39) R77S possibly damaging Het
Nlrp6 A G 7: 140,502,780 (GRCm39) I265M probably benign Het
Or52n5 T C 7: 104,587,883 (GRCm39) L50P probably damaging Het
Or5bw2 A G 7: 6,573,782 (GRCm39) Y264C probably damaging Het
Or8b9 T A 9: 37,766,942 (GRCm39) V276D possibly damaging Het
Pcdhgb5 C A 18: 37,864,976 (GRCm39) P257Q probably benign Het
Phactr1 A G 13: 43,286,457 (GRCm39) D586G probably damaging Het
Pkn3 T A 2: 29,973,548 (GRCm39) probably null Het
Prob1 A T 18: 35,787,553 (GRCm39) S234T probably benign Het
Rab14 A T 2: 35,073,429 (GRCm39) L131* probably null Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rhebl1 A G 15: 98,777,164 (GRCm39) L103P probably damaging Het
Rnf10 G T 5: 115,395,149 (GRCm39) F146L probably damaging Het
Rrbp1 T C 2: 143,831,087 (GRCm39) K360R possibly damaging Het
Slc6a9 C T 4: 117,725,261 (GRCm39) T575I probably benign Het
Smo A G 6: 29,760,229 (GRCm39) H776R probably damaging Het
Speer1f T C 5: 11,469,071 (GRCm39) V74A possibly damaging Het
Tns2 A G 15: 102,012,914 (GRCm39) M1V probably null Het
Ttn C A 2: 76,725,036 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,306,240 (GRCm39) M130L probably benign Het
Urb2 C T 8: 124,755,036 (GRCm39) H248Y probably benign Het
Vit A T 17: 78,932,585 (GRCm39) N564I probably damaging Het
Vmn1r60 A T 7: 5,547,310 (GRCm39) Y263* probably null Het
Vmn2r16 A T 5: 109,511,620 (GRCm39) Y609F probably damaging Het
Xpo7 T C 14: 70,908,512 (GRCm39) I876V probably benign Het
Zfp442 A G 2: 150,249,937 (GRCm39) I655T probably benign Het
Zfp574 T A 7: 24,779,622 (GRCm39) C215S possibly damaging Het
Zfp608 T C 18: 55,121,069 (GRCm39) T173A probably benign Het
Zfp69 A T 4: 120,788,598 (GRCm39) V239D 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
IGL01823:Evc APN 5 37,485,865 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCTGAGTCAGGAGTTCCTC -3'
(R):5'- GCTAAGTAACCAGTGGCTGATCC -3'

Sequencing Primer
(F):5'- CCTTTTGCCTCCCAGACAG -3'
(R):5'- GTGGCTGATCCCAAACTCTGAAG -3'
Posted On 2019-05-13