Incidental Mutation 'R5536:Evc'
ID 501137
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 043094-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5536 (G1)
Quality Score 103
Status Not validated
Chromosome 5
Chromosomal Location 37446442-37494238 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 37483927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000114148] [ENSMUST00000114154]
AlphaFold P57680
Predicted Effect silent
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 silent
Transcript: ENSMUST00000114148
SMART Domains Protein: ENSMUSP00000109785
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
Predicted Effect probably benign
Transcript: ENSMUST00000114154
SMART Domains Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
E2f6 T G 12: 16,874,685 (GRCm39) S256A probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Galnt2 T C 8: 125,050,412 (GRCm39) C91R probably damaging Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Nup153 T C 13: 46,836,485 (GRCm39) T1375A probably benign Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Or4x6 A G 2: 89,949,183 (GRCm39) V253A probably benign Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Psmb2 T A 4: 126,578,002 (GRCm39) I60N probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Taf8 C A 17: 47,805,407 (GRCm39) R164L possibly damaging Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Usf3 A G 16: 44,037,733 (GRCm39) T738A probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zkscan8 T C 13: 21,710,838 (GRCm39) I91V probably damaging Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A 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
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
Predicted Primers PCR Primer
(F):5'- AAAGGCACACTGGAGGATCC -3'
(R):5'- TGGGGACAGATCCTAATGGCTC -3'

Sequencing Primer
(F):5'- ATCCGGTCGTCGCTGTAG -3'
(R):5'- ATCCTAATGGCTCCAGGGTAG -3'
Posted On 2017-12-01