Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Arvcf'

168812

Institutional Source

Beutler Lab

Gene Symbol

Arvcf

Ensembl Gene

ENSMUSG00000000325

Gene Name

armadillo repeat gene deleted in velocardiofacial syndrome

Synonyms

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18348182-18407076 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18389386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 70 (L70Q)

Ref Sequence

ENSEMBL: ENSMUSP00000111278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090103] [ENSMUST00000115610] [ENSMUST00000115612] [ENSMUST00000115613] [ENSMUST00000115614] [ENSMUST00000150253] [ENSMUST00000232025]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090103
AA Change: L70Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325
AA Change: L70Q

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	117	138	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	208	227	N/A	INTRINSIC
ARM	391	431	4.48e-7	SMART
ARM	434	475	3.31e-10	SMART
Blast:ARM	476	533	2e-20	BLAST
ARM	536	582	2.1e1	SMART
ARM	652	693	9.55e1	SMART
ARM	699	739	4.05e-5	SMART
ARM	790	832	3.03e0	SMART
low complexity region	927	945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115610

SMART Domains

Protein: ENSMUSP00000111273
Gene: ENSMUSG00000000325

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	53	74	N/A	INTRINSIC
low complexity region	77	93	N/A	INTRINSIC
low complexity region	144	163	N/A	INTRINSIC
ARM	327	367	4.48e-7	SMART
ARM	370	411	3.31e-10	SMART
Blast:ARM	412	469	1e-20	BLAST
ARM	472	518	2.1e1	SMART
low complexity region	555	563	N/A	INTRINSIC
ARM	582	623	9.55e1	SMART
ARM	629	669	4.05e-5	SMART
ARM	720	762	3.03e0	SMART
low complexity region	857	875	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115612
AA Change: L70Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325
AA Change: L70Q

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	117	138	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	208	227	N/A	INTRINSIC
ARM	391	431	4.48e-7	SMART
ARM	434	475	3.31e-10	SMART
Blast:ARM	476	533	2e-20	BLAST
ARM	536	582	2.1e1	SMART
low complexity region	619	627	N/A	INTRINSIC
ARM	646	687	9.55e1	SMART
ARM	693	733	4.05e-5	SMART
ARM	784	826	3.03e0	SMART
low complexity region	921	939	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115613
AA Change: L70Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325
AA Change: L70Q

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	117	138	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	208	227	N/A	INTRINSIC
ARM	391	431	4.48e-7	SMART
ARM	434	475	3.31e-10	SMART
Blast:ARM	476	533	2e-20	BLAST
ARM	536	582	2.1e1	SMART
ARM	652	693	9.55e1	SMART
ARM	699	739	4.05e-5	SMART
ARM	790	832	3.03e0	SMART
low complexity region	927	945	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115614
AA Change: L70Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325
AA Change: L70Q

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	117	138	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	208	227	N/A	INTRINSIC
ARM	391	431	4.48e-7	SMART
ARM	434	475	3.31e-10	SMART
Blast:ARM	476	533	2e-20	BLAST
ARM	536	582	2.1e1	SMART
low complexity region	619	627	N/A	INTRINSIC
ARM	646	687	9.55e1	SMART
ARM	693	733	4.05e-5	SMART
ARM	784	826	3.03e0	SMART
low complexity region	921	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231791

Predicted Effect

probably benign
Transcript: ENSMUST00000232025

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a targeted allele display abnormal gait and cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,477,820	N488S	probably benign	Het
A430105I19Rik	T	G	2: 118,760,532	K173N	probably damaging	Het
Acot10	G	A	15: 20,665,507	R383C	probably damaging	Het
Acsm2	A	G	7: 119,578,126	D263G	probably damaging	Het
Adcy2	G	T	13: 68,796,535	Q243K	probably benign	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Agt	A	G	8: 124,559,455	F296S	probably damaging	Het
Akap14	T	C	X: 37,163,965	D39G	possibly damaging	Het
Akt3	T	C	1: 177,103,042	M117V	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Ccdc171	A	T	4: 83,681,095	K724*	probably null	Het
Ccdc91	A	G	6: 147,534,172	T85A	possibly damaging	Het
Cdh3	C	T	8: 106,538,997	T224I	probably damaging	Het
Clstn3	T	C	6: 124,449,917	I482V	probably benign	Het
Cnot9	A	G	1: 74,523,600	E176G	probably damaging	Het
Cntnap4	T	G	8: 112,881,763	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,851,480	M1K	probably null	Het
Cyp2c23	A	G	19: 44,005,508	I473T	probably benign	Het
Dbil5	T	A	11: 76,218,450	M60K	probably benign	Het
Dgkg	A	T	16: 22,500,379	L644Q	probably damaging	Het
Disp3	T	C	4: 148,249,825	I1004V	probably benign	Het
Egf	T	A	3: 129,713,006	I599F	probably damaging	Het
Epc2	A	G	2: 49,536,663	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Extl3	A	T	14: 65,075,867	V622E	probably benign	Het
Fam227a	C	T	15: 79,626,245	V403I	probably benign	Het
Fat2	T	A	11: 55,262,673	D3571V	probably benign	Het
Fcho2	A	G	13: 98,749,850		probably null	Het
Fras1	A	G	5: 96,528,586	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,055,940	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,154,944	N113S	probably damaging	Het
Glg1	T	C	8: 111,197,675	Y227C	probably damaging	Het
Gm14851	T	A	8: 21,095,201	Q75L	probably benign	Het
Gm5141	A	T	13: 62,774,270	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,628,437	T104S	probably benign	Het
Jph1	A	C	1: 17,091,652	V262G	probably benign	Het
Kank1	C	G	19: 25,410,349	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,499,327	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,573,873		probably benign	Het
Lyzl1	G	T	18: 4,181,192	W77L	probably null	Het
Nipbl	T	G	15: 8,351,280	N676T	probably benign	Het
Obscn	C	T	11: 59,080,160	S2300N	probably damaging	Het
Olfr459	T	G	6: 41,771,903	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,758,839	M350L	probably benign	Het
Pecam1	T	C	11: 106,688,856	D460G	probably damaging	Het
Pik3c2a	T	A	7: 116,388,065	K540N	probably benign	Het
Prdm12	T	A	2: 31,640,193	I32N	probably damaging	Het
Prkd1	T	C	12: 50,366,352	S679G	probably damaging	Het
Psen2	C	T	1: 180,228,854	A393T	probably damaging	Het
Ptprh	T	A	7: 4,580,889	T235S	probably benign	Het
Ranbp3	C	T	17: 56,705,527	P182L	probably benign	Het
Serpinb7	A	T	1: 107,451,660	K266*	probably null	Het
Sesn3	T	C	9: 14,308,521	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,354,190	M818T	probably damaging	Het
Slc25a53	C	A	X: 137,015,335	C4F	unknown	Het
Snx1	T	A	9: 66,096,597	L255F	probably benign	Het
Sptbn2	T	G	19: 4,718,976	S46A	possibly damaging	Het
Taf4	A	G	2: 179,933,027	F595S	probably damaging	Het
Tec	A	T	5: 72,786,755	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,290,791	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,799,937	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 57,003,073	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,777,303	Y473*	probably null	Het
Zyg11b	G	A	4: 108,266,213	P186S	probably damaging	Het

Other mutations in Arvcf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02155:Arvcf	APN	16	18403900	missense	probably damaging	1.00
IGL02901:Arvcf	APN	16	18398242	missense	probably damaging	0.99
IGL03218:Arvcf	APN	16	18404125	splice site	probably benign
IGL03239:Arvcf	APN	16	18397067	missense	probably damaging	1.00
PIT4466001:Arvcf	UTSW	16	18402949	missense	possibly damaging	0.91
PIT4472001:Arvcf	UTSW	16	18402949	missense	possibly damaging	0.91
R0045:Arvcf	UTSW	16	18403458	missense	probably benign	0.40
R0068:Arvcf	UTSW	16	18396954	splice site	probably benign
R0068:Arvcf	UTSW	16	18396954	splice site	probably benign
R0873:Arvcf	UTSW	16	18400205	nonsense	probably null
R1227:Arvcf	UTSW	16	18389304	missense	probably benign	0.00
R1717:Arvcf	UTSW	16	18401569	missense	possibly damaging	0.52
R2021:Arvcf	UTSW	16	18399732	missense	probably damaging	1.00
R3873:Arvcf	UTSW	16	18403033	missense	probably damaging	1.00
R4095:Arvcf	UTSW	16	18401577	missense	probably damaging	1.00
R4280:Arvcf	UTSW	16	18397991	missense	probably damaging	1.00
R4496:Arvcf	UTSW	16	18405182	missense	probably damaging	0.96
R4887:Arvcf	UTSW	16	18398113	nonsense	probably null
R5068:Arvcf	UTSW	16	18398986	missense	probably damaging	1.00
R5069:Arvcf	UTSW	16	18398986	missense	probably damaging	1.00
R5070:Arvcf	UTSW	16	18398986	missense	probably damaging	1.00
R5322:Arvcf	UTSW	16	18397643	missense	probably benign	0.00
R5400:Arvcf	UTSW	16	18399070	missense	probably benign	0.17
R6376:Arvcf	UTSW	16	18405132	missense	probably damaging	0.98
R6771:Arvcf	UTSW	16	18403864	missense	probably benign
R7106:Arvcf	UTSW	16	18399049	missense	probably damaging	0.99
R7176:Arvcf	UTSW	16	18399727	missense	probably damaging	1.00
R7202:Arvcf	UTSW	16	18405198	missense	probably damaging	1.00
R7412:Arvcf	UTSW	16	18401600	missense	probably benign	0.03
R7737:Arvcf	UTSW	16	18397101	missense	probably damaging	1.00
R7783:Arvcf	UTSW	16	18389198	missense	probably benign	0.30
R8852:Arvcf	UTSW	16	18403453	missense	probably benign	0.05
R8933:Arvcf	UTSW	16	18400095	missense	probably damaging	1.00
R8958:Arvcf	UTSW	16	18402626	missense	probably damaging	1.00
R9043:Arvcf	UTSW	16	18399702	missense	probably damaging	1.00
R9258:Arvcf	UTSW	16	18398207	missense	probably damaging	1.00
R9414:Arvcf	UTSW	16	18397715	missense	probably damaging	1.00
Z1088:Arvcf	UTSW	16	18402641	missense	probably damaging	1.00
Z1177:Arvcf	UTSW	16	18389299	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTGGCCTCGGTGAAGGAACAG -3'
(R):5'- CACACAATGGAGGCAGCGAGATTC -3'

Sequencing Primer
(F):5'- AACAGGAGGCCCGTTTCG -3'
(R):5'- GCGAGATTCTAAGGATCAGGC -3'

Posted On

2014-04-13