Mutagenetix > Incidental Mutation

Incidental Mutation 'R9222:Evc'

699522

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R9222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37446442-37494238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37477650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 343 (M343K)

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: M343K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: M343K

Domain	Start	End	E-Value	Type
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: M343K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: M343K

Domain	Start	End	E-Value	Type
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: M166K

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: M166K

Domain	Start	End	E-Value	Type
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

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	C	A	5: 138,560,562 (GRCm39)	V278F	unknown	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Actr5	T	A	2: 158,473,423 (GRCm39)	N272K	probably damaging	Het
Afg3l2	T	C	18: 67,567,257 (GRCm39)	T198A	probably benign	Het
Aloxe3	A	G	11: 69,023,903 (GRCm39)	Y278C	probably damaging	Het
Apobec3	A	G	15: 79,783,270 (GRCm39)	I226V		Het
Arap2	T	A	5: 62,828,421 (GRCm39)	T917S	possibly damaging	Het
Arhgap40	T	C	2: 158,388,692 (GRCm39)	L545P	probably damaging	Het
Atp13a5	A	T	16: 29,133,472 (GRCm39)	L438H	probably damaging	Het
Ccdc191	T	A	16: 43,725,831 (GRCm39)	Y105N	probably damaging	Het
Ccdc7a	A	T	8: 129,525,610 (GRCm39)	F1406L	unknown	Het
Celsr1	A	G	15: 85,815,471 (GRCm39)	V1848A	possibly damaging	Het
Chn1	T	A	2: 73,443,499 (GRCm39)	N417I	probably damaging	Het
Cmya5	T	C	13: 93,230,579 (GRCm39)	K1503R	probably benign	Het
Cryz	T	C	3: 154,317,203 (GRCm39)	F141L	probably benign	Het
Dmac2l	T	C	12: 69,788,554 (GRCm39)	V151A	probably damaging	Het
Dpep2	T	A	8: 106,723,016 (GRCm39)	H13L		Het
Eif2b5	C	T	16: 20,321,382 (GRCm39)	R312*	probably null	Het
Fbxw17	T	A	13: 50,577,367 (GRCm39)	D86E	probably damaging	Het
Fbxw9	T	A	8: 85,788,856 (GRCm39)	L202Q	probably damaging	Het
Fkbp9	G	T	6: 56,852,677 (GRCm39)	V466F	probably damaging	Het
Fras1	G	A	5: 96,805,087 (GRCm39)	R1243Q	probably benign	Het
Fsip2	C	T	2: 82,815,958 (GRCm39)	T3897I	probably benign	Het
Fut7	T	C	2: 25,315,191 (GRCm39)	S150P	possibly damaging	Het
Gstm5	A	G	3: 107,804,634 (GRCm39)	I73V	probably benign	Het
Hspb9	A	G	11: 100,604,769 (GRCm39)	M32V	possibly damaging	Het
Ift80	A	G	3: 68,825,894 (GRCm39)	I482T	possibly damaging	Het
Khk	C	T	5: 31,079,141 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,747,324 (GRCm39)	H3333Q	unknown	Het
Lamc1	G	T	1: 153,119,087 (GRCm39)	T844K	probably damaging	Het
Luc7l2	A	T	6: 38,542,633 (GRCm39)	I10L	probably benign	Het
Mosmo	T	A	7: 120,277,055 (GRCm39)	I23N	probably benign	Het
Mtcl2	A	G	2: 156,881,919 (GRCm39)	V711A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Nsun7	T	C	5: 66,418,366 (GRCm39)	V32A	probably benign	Het
Oog1	A	G	12: 87,653,016 (GRCm39)	D104G	probably damaging	Het
Or4b13	C	T	2: 90,082,820 (GRCm39)	V171M	possibly damaging	Het
Pde3a	A	G	6: 141,437,904 (GRCm39)	D991G	probably damaging	Het
Pds5a	G	A	5: 65,805,281 (GRCm39)	H522Y	probably benign	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Plk4	T	A	3: 40,760,990 (GRCm39)	V440E	possibly damaging	Het
Prkd2	A	G	7: 16,577,699 (GRCm39)	I51V	probably damaging	Het
Ptprt	T	C	2: 161,402,106 (GRCm39)	T1042A	probably damaging	Het
Rsph6a	C	A	7: 18,801,986 (GRCm39)	T600N	possibly damaging	Het
Scn11a	A	T	9: 119,611,013 (GRCm39)	V946E	probably damaging	Het
Sec11a	G	A	7: 80,565,634 (GRCm39)	L170F	probably damaging	Het
Slc15a5	A	G	6: 137,961,450 (GRCm39)	I215T		Het
Slc1a1	A	G	19: 28,882,794 (GRCm39)	I353V	probably benign	Het
Smox	A	G	2: 131,362,843 (GRCm39)	E374G	possibly damaging	Het
Sytl2	A	G	7: 90,050,633 (GRCm39)	T727A	possibly damaging	Het
Taar7d	A	C	10: 23,904,124 (GRCm39)	K335N	probably benign	Het
Tacc2	T	A	7: 130,227,985 (GRCm39)	S1557T	probably benign	Het
Tbx19	C	A	1: 164,966,609 (GRCm39)	V422L	probably benign	Het
Tdrd1	G	T	19: 56,831,679 (GRCm39)	V357F	probably benign	Het
Tdrd6	A	G	17: 43,939,231 (GRCm39)	C606R	probably damaging	Het
Tmcc1	C	G	6: 116,020,049 (GRCm39)	G468R		Het
Tmem209	G	A	6: 30,506,838 (GRCm39)	T93I	probably damaging	Het
Trpv1	T	C	11: 73,141,681 (GRCm39)	V568A	possibly damaging	Het
Tsbp1	A	T	17: 34,648,922 (GRCm39)	I43L		Het
Tubgcp2	T	C	7: 139,587,965 (GRCm39)	D220G	probably damaging	Het
Vmn1r11	A	G	6: 57,114,992 (GRCm39)	R219G	possibly damaging	Het
Zan	A	G	5: 137,465,463 (GRCm39)	S431P	possibly damaging	Het

Other mutations in Evc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGAGGATTCACTGCCCTTTTC -3'
(R):5'- TGGGACACAATCAATGCTGAG -3'

Sequencing Primer
(F):5'- CCCTTTTCTGGGGGTGCTATAC -3'
(R):5'- TGCTGAGATAAACCCCCTTCAATTG -3'

Posted On

2022-02-07