Incidental Mutation 'R7286:Evc'
ID 565990
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 045394-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7286 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 37446442-37494238 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 37479527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 269 (L269*)
Ref Sequence ENSEMBL: ENSMUSP00000031005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000114148] [ENSMUST00000114154]
AlphaFold P57680
Predicted Effect probably null
Transcript: ENSMUST00000031005
AA Change: L269*
SMART Domains Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: L269*

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 null
Transcript: ENSMUST00000114148
AA Change: L269*
SMART Domains Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: L269*

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 null
Transcript: ENSMUST00000114154
AA Change: L92*
SMART Domains Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: L92*

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: 99.6%
  • 20x: 98.6%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,334,317 (GRCm39) M187L possibly damaging Het
9930012K11Rik T C 14: 70,394,686 (GRCm39) E156G possibly damaging Het
Acad9 C T 3: 36,130,139 (GRCm39) A194V probably damaging Het
Agps T A 2: 75,683,128 (GRCm39) V151E probably benign Het
Ak9 A T 10: 41,283,367 (GRCm39) I1273L Het
Akr1c19 T A 13: 4,296,818 (GRCm39) L288Q probably damaging Het
Carmil1 T G 13: 24,197,377 (GRCm39) D1353A probably damaging Het
Ccz1 T A 5: 143,949,897 (GRCm39) I43F probably damaging Het
Cep70 G A 9: 99,157,638 (GRCm39) C179Y probably damaging Het
Comt A T 16: 18,229,440 (GRCm39) L196H probably damaging Het
Cspg5 A T 9: 110,076,023 (GRCm39) D253V probably damaging Het
Dars2 A G 1: 160,874,378 (GRCm39) V437A possibly damaging Het
Dcaf5 A G 12: 80,395,164 (GRCm39) I335T probably damaging Het
Ddn T C 15: 98,703,906 (GRCm39) K462R possibly damaging Het
Dscaml1 T C 9: 45,654,044 (GRCm39) probably null Het
Eef1ece2 T C 16: 20,451,341 (GRCm39) S325P probably benign Het
Ethe1 A G 7: 24,307,377 (GRCm39) Y197C probably damaging Het
Fam161a T C 11: 22,970,001 (GRCm39) S60P possibly damaging Het
Fam20b A G 1: 156,509,012 (GRCm39) V400A probably benign Het
Fam53b T A 7: 132,361,390 (GRCm39) S213C possibly damaging Het
Flot2 A G 11: 77,945,612 (GRCm39) I45V probably benign Het
Gemin4 A C 11: 76,103,579 (GRCm39) L394R probably damaging Het
Glis2 T G 16: 4,429,182 (GRCm39) S128R possibly damaging Het
Gm3696 A G 14: 18,435,009 (GRCm39) Y92H probably damaging Het
Gpbp1l1 T C 4: 116,447,442 (GRCm39) V374A probably benign Het
Grm1 T C 10: 10,565,440 (GRCm39) N956S probably benign Het
Hbb-bh1 T C 7: 103,492,238 (GRCm39) E27G probably damaging Het
Hmcn1 A T 1: 150,458,088 (GRCm39) C5233S probably damaging Het
Hmgcr C T 13: 96,803,105 (GRCm39) C30Y probably damaging Het
Hoxb6 A G 11: 96,183,651 (GRCm39) probably benign Het
Igf2 T C 7: 142,209,555 (GRCm39) Q35R possibly damaging Het
Ighv1-4 C T 12: 114,450,941 (GRCm39) V56I probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lmtk2 C T 5: 144,111,178 (GRCm39) Q633* probably null Het
Mesd T C 7: 83,544,957 (GRCm39) Y136H probably damaging Het
Mga T A 2: 119,795,269 (GRCm39) S2984R possibly damaging Het
Mkrn3 T C 7: 62,068,675 (GRCm39) N372S probably benign Het
Mtpap A G 18: 4,387,068 (GRCm39) I373V probably benign Het
Mycbp2 G A 14: 103,358,027 (GRCm39) T4589M probably damaging Het
Myh2 A G 11: 67,079,195 (GRCm39) Q921R probably benign Het
Myom1 A G 17: 71,352,544 (GRCm39) D324G possibly damaging Het
Nat10 T C 2: 103,584,514 (GRCm39) K88E probably benign Het
Ncapd3 A G 9: 26,981,254 (GRCm39) R915G probably damaging Het
Nek4 T C 14: 30,679,249 (GRCm39) Y190H probably damaging Het
Nfasc A C 1: 132,529,790 (GRCm39) Y797D probably damaging Het
Ngp A G 9: 110,249,978 (GRCm39) D92G probably benign Het
Nos2 A C 11: 78,820,680 (GRCm39) H95P probably damaging Het
Nr3c1 ACGTC ACGTCGTC 18: 39,619,513 (GRCm39) probably benign Het
Or10ag59 C T 2: 87,405,863 (GRCm39) T145I probably benign Het
Or5bw2 C A 7: 6,573,715 (GRCm39) H242N probably damaging Het
Or5p73 T C 7: 108,064,642 (GRCm39) I37T possibly damaging Het
Or5t18 A T 2: 86,636,967 (GRCm39) H125Q possibly damaging Het
Otogl T A 10: 107,606,471 (GRCm39) D2154V probably benign Het
Pdss1 T A 2: 22,825,653 (GRCm39) probably null Het
Pex5 A T 6: 124,375,022 (GRCm39) L609* probably null Het
Pglyrp4 C A 3: 90,640,281 (GRCm39) A177D probably damaging Het
Phactr4 A G 4: 132,104,489 (GRCm39) probably null Het
Phf8-ps T C 17: 33,284,501 (GRCm39) D767G probably benign Het
Pik3cd G C 4: 149,744,171 (GRCm39) N193K probably benign Het
Prr36 TACCTCTTC T 8: 4,265,163 (GRCm39) probably benign Het
Prss38 A T 11: 59,266,384 (GRCm39) W25R probably benign Het
Prss8 T A 7: 127,526,056 (GRCm39) Q189L probably damaging Het
Psd T A 19: 46,303,240 (GRCm39) D713V probably damaging Het
Rad51ap2 C T 12: 11,507,692 (GRCm39) T538I probably benign Het
Rarres1 T C 3: 67,422,517 (GRCm39) T78A probably benign Het
Rbl2 G T 8: 91,828,922 (GRCm39) G651* probably null Het
Rev3l A T 10: 39,699,601 (GRCm39) Q1366L probably damaging Het
Rundc1 T C 11: 101,320,413 (GRCm39) S215P probably benign Het
Sanbr A T 11: 23,572,479 (GRCm39) C130S probably benign Het
Scarf2 G A 16: 17,620,837 (GRCm39) W168* probably null Het
Sh2d7 A G 9: 54,448,186 (GRCm39) D69G possibly damaging Het
Slc26a4 A T 12: 31,579,527 (GRCm39) Y578* probably null Het
Slc2a9 A T 5: 38,610,538 (GRCm39) L87Q probably damaging Het
Slc39a10 A T 1: 46,849,230 (GRCm39) H795Q probably damaging Het
Spata13 C T 14: 60,993,871 (GRCm39) R1108W probably damaging Het
Sqle T C 15: 59,187,901 (GRCm39) S70P probably benign Het
Syncrip A T 9: 88,346,716 (GRCm39) F263I probably damaging Het
Synj2 T C 17: 6,088,220 (GRCm39) S1424P possibly damaging Het
Tax1bp3 A T 11: 73,071,941 (GRCm39) T89S possibly damaging Het
Tcaim G A 9: 122,648,092 (GRCm39) probably null Het
Tcp10c T C 17: 13,582,438 (GRCm39) I240T possibly damaging Het
Ttll8 G T 15: 88,801,442 (GRCm39) N415K probably benign Het
Tut7 T C 13: 59,969,463 (GRCm39) E144G probably benign Het
Ugcg T C 4: 59,217,111 (GRCm39) S212P possibly damaging Het
Vmn2r32 T C 7: 7,482,807 (GRCm39) K56E probably benign Het
Vmn2r55 T C 7: 12,386,000 (GRCm39) E660G probably damaging Het
Vmn2r7 T C 3: 64,598,301 (GRCm39) N752S probably benign Het
Vps54 T A 11: 21,225,005 (GRCm39) M167K probably benign Het
Vwa2 A C 19: 56,897,791 (GRCm39) M699L probably benign Het
Wdr59 A G 8: 112,192,494 (GRCm39) V689A Het
Whamm T G 7: 81,235,995 (GRCm39) N399K probably damaging Het
Zfp760 A G 17: 21,941,760 (GRCm39) K312E probably benign Het
Zkscan3 C A 13: 21,578,983 (GRCm39) V171L probably benign 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
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'- CATTGTTGCAGAATCCAAGACCC -3'
(R):5'- ACTCTAAGACTGTGCCAAGAAC -3'

Sequencing Primer
(F):5'- CCCCACAGAAGAGAGAGGC -3'
(R):5'- TGTGCCAAGAACATCTCACAAGTATG -3'
Posted On 2019-06-26