Incidental Mutation 'R7503:Evc'
ID 581614
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 045576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7503 (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 37458111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 803 (K803R)
Ref Sequence ENSEMBL: ENSMUSP00000109791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000114154] [ENSMUST00000146568]
AlphaFold P57680
Predicted Effect probably benign
Transcript: ENSMUST00000031005
SMART Domains Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122

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 unknown
Transcript: ENSMUST00000114154
AA Change: K803R
SMART Domains Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: K803R

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
SMART Domains Protein: ENSMUSP00000120191
Gene: ENSMUSG00000029122
AA Change: K71R

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146568
SMART Domains Protein: ENSMUSP00000114825
Gene: ENSMUSG00000029122

DomainStartEndE-ValueType
coiled coil region 23 63 N/A INTRINSIC
low complexity region 79 96 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik G A 8: 12,329,554 (GRCm39) G3D unknown Het
Aif1 A T 17: 35,390,549 (GRCm39) I67N probably damaging Het
Akap11 T C 14: 78,749,441 (GRCm39) D982G Het
Anpep A G 7: 79,476,385 (GRCm39) L827P probably damaging Het
Arhgef5 A T 6: 43,250,933 (GRCm39) K561N probably benign Het
Arsj T C 3: 126,158,493 (GRCm39) F24S probably benign Het
Bard1 T C 1: 71,069,995 (GRCm39) D661G probably damaging Het
Cc2d2b A G 19: 40,783,056 (GRCm39) I618V unknown Het
Cfap251 G T 5: 123,435,521 (GRCm39) E994* probably null Het
Cfap54 T A 10: 92,723,298 (GRCm39) probably null Het
Cfhr2 T A 1: 139,758,952 (GRCm39) I33F probably damaging Het
Dsc1 G A 18: 20,218,922 (GRCm39) H827Y probably damaging Het
Eif3i C T 4: 129,494,207 (GRCm39) D31N probably damaging Het
Eno1b A T 18: 48,179,878 (GRCm39) T19S probably damaging Het
Eva1a G A 6: 82,048,210 (GRCm39) W29* probably null Het
F5 T A 1: 164,019,779 (GRCm39) N751K probably damaging Het
Fam120a A T 13: 49,102,723 (GRCm39) N177K probably benign Het
Farp2 T G 1: 93,495,219 (GRCm39) I164R probably benign Het
Gm20379 C T 13: 92,442,565 (GRCm39) P26L Het
Hmgcs2 T C 3: 98,209,940 (GRCm39) S433P probably damaging Het
Inava T C 1: 136,143,675 (GRCm39) D587G possibly damaging Het
Ints2 T C 11: 86,122,881 (GRCm39) T633A probably benign Het
Invs C T 4: 48,396,347 (GRCm39) T340M probably damaging Het
Mef2c A C 13: 83,810,623 (GRCm39) D391A possibly damaging Het
Msh4 A C 3: 153,573,387 (GRCm39) S756A probably damaging Het
Mylk3 T C 8: 86,080,218 (GRCm39) T490A probably benign Het
Myo1b A T 1: 51,815,761 (GRCm39) probably null Het
Nsmce1 A G 7: 125,071,106 (GRCm39) S107P probably benign Het
Or52a24 T A 7: 103,381,474 (GRCm39) S114T probably damaging Het
Or5d43 T C 2: 88,105,039 (GRCm39) Y118C probably damaging Het
Pcdhb21 G A 18: 37,648,028 (GRCm39) D386N probably benign Het
Pcdhb22 T G 18: 37,652,155 (GRCm39) L208V probably benign Het
Pigu C T 2: 155,173,064 (GRCm39) probably null Het
Plcz1 T A 6: 139,936,474 (GRCm39) E585V probably damaging Het
Pnpla7 C A 2: 24,873,544 (GRCm39) C183* probably null Het
Pomgnt1 T C 4: 116,009,949 (GRCm39) V133A possibly damaging Het
Prl3d3 A G 13: 27,345,096 (GRCm39) Y156C probably benign Het
Prpf39 A G 12: 65,100,167 (GRCm39) D280G probably benign Het
Recql5 C A 11: 115,785,881 (GRCm39) A631S probably benign Het
Runx3 C A 4: 134,882,679 (GRCm39) N138K probably damaging Het
Scaper T C 9: 55,715,038 (GRCm39) D750G probably damaging Het
Slc16a3 T C 11: 120,847,853 (GRCm39) L347P probably damaging Het
Slc25a1 G T 16: 17,744,303 (GRCm39) Y209* probably null Het
Smad2 A G 18: 76,419,956 (GRCm39) S88G probably benign Het
Sorcs1 A G 19: 50,141,490 (GRCm39) C1125R probably benign Het
Spata21 T A 4: 140,822,614 (GRCm39) I140N probably benign Het
Speer3 A T 5: 13,843,348 (GRCm39) D85V probably benign Het
Spopfm1 A T 3: 94,173,780 (GRCm39) M259L probably benign Het
Stra6 A G 9: 58,058,528 (GRCm39) N463S possibly damaging Het
Tmem14a T G 1: 21,299,623 (GRCm39) probably null Het
Tsc1 T A 2: 28,577,088 (GRCm39) L1130Q possibly damaging Het
Ttn T C 2: 76,611,401 (GRCm39) D17377G possibly damaging Het
Utf1 A G 7: 139,524,046 (GRCm39) D87G probably damaging Het
Vmn2r6 G A 3: 64,447,372 (GRCm39) Q565* probably null Het
Vmn2r63 A T 7: 42,583,014 (GRCm39) M67K probably benign Het
Vmn2r90 T C 17: 17,933,510 (GRCm39) Y357H not run Het
Vmn2r97 A G 17: 19,148,470 (GRCm39) T122A probably benign Het
Wdhd1 T C 14: 47,488,248 (GRCm39) E753G probably benign Het
Wdr11 A G 7: 129,204,834 (GRCm39) N213S probably benign Het
Xdh A C 17: 74,233,205 (GRCm39) D207E probably damaging Het
Zfp281 T A 1: 136,554,678 (GRCm39) I552N possibly damaging Het
Zzef1 T A 11: 72,716,893 (GRCm39) I361K 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
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
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'- CCCAGTGCCAGAGGATAATG -3'
(R):5'- AGGAAGTGCCATCTAAAGTCG -3'

Sequencing Primer
(F):5'- TAATGGCTCAGTTGACCCAG -3'
(R):5'- TCTAAAGTCGTGAAGCCATCCTGG -3'
Posted On 2019-10-17