Mutagenetix > Incidental Mutation

Incidental Mutation 'R1717:Arvcf'

191163

Institutional Source

Beutler Lab

Gene Symbol

Arvcf

Ensembl Gene

ENSMUSG00000000325

Gene Name

armadillo repeat gene deleted in velocardiofacial syndrome

Synonyms

MMRRC Submission

039750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18166046-18225826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18220319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 568 (K568E)

Ref Sequence

ENSEMBL: ENSMUSP00000155883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090103] [ENSMUST00000115610] [ENSMUST00000115612] [ENSMUST00000115613] [ENSMUST00000115614] [ENSMUST00000150253] [ENSMUST00000232025] [ENSMUST00000232241]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090103
AA Change: K632E

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325
AA Change: K632E

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
AA Change: K562E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000111273
Gene: ENSMUSG00000000325
AA Change: K562E

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 benign
Transcript: ENSMUST00000115612
AA Change: K626E

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325
AA Change: K626E

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: ENSMUST00000115613
AA Change: K632E

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325
AA Change: K632E

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: ENSMUST00000115614
AA Change: K626E

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325
AA Change: K626E

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

noncoding transcript
Transcript: ENSMUST00000126183

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150253
AA Change: K562E

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152132

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232025
AA Change: K568E

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000232241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231791

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,629,641 (GRCm39)		probably null	Het
4930583I09Rik	T	C	17: 65,141,444 (GRCm39)	N53S	unknown	Het
4933434E20Rik	T	A	3: 89,963,544 (GRCm39)	S67T	probably benign	Het
Abcc8	T	C	7: 45,765,239 (GRCm39)	I1127V	possibly damaging	Het
Abcg3	G	A	5: 105,111,421 (GRCm39)	Q349*	probably null	Het
Adam2	A	G	14: 66,306,007 (GRCm39)	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap11	C	A	14: 78,750,788 (GRCm39)	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,200,953 (GRCm39)	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,365,840 (GRCm39)	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,361,305 (GRCm39)		probably null	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,712 (GRCm39)		probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,989,121 (GRCm39)	D616G	probably damaging	Het
Atp8b3	G	A	10: 80,364,631 (GRCm39)	R521W	probably damaging	Het
Casp16	A	G	17: 23,771,024 (GRCm39)	I127T	possibly damaging	Het
Cd163	A	G	6: 124,306,547 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,757,337 (GRCm39)	S754T	probably damaging	Het
Cel	A	G	2: 28,446,789 (GRCm39)	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,499,240 (GRCm39)	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,839,218 (GRCm39)	M989V	unknown	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,266,708 (GRCm39)	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 96,182,436 (GRCm39)		probably null	Het
Dact2	A	T	17: 14,418,175 (GRCm39)	W177R	probably benign	Het
Ddx10	A	G	9: 53,071,253 (GRCm39)	V680A	probably benign	Het
Eif5	T	A	12: 111,508,651 (GRCm39)	D215E	probably benign	Het
Evpl	C	T	11: 116,116,318 (GRCm39)	A817T	probably benign	Het
Fmo6	T	A	1: 162,753,821 (GRCm39)	R131*	probably null	Het
Fsd2	T	C	7: 81,184,857 (GRCm39)	T680A	probably benign	Het
Fsip2	T	C	2: 82,805,289 (GRCm39)	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364 (GRCm39)	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,265,694 (GRCm39)		probably null	Het
Galnt9	T	G	5: 110,744,078 (GRCm39)	I304S	probably benign	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5334	A	C	7: 68,268,725 (GRCm39)		noncoding transcript	Het
Grcc10	A	T	6: 124,717,476 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,734,937 (GRCm39)	T192A	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,111,461 (GRCm39)	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,809,514 (GRCm39)	C426S	probably damaging	Het
Lair1	A	G	7: 4,013,788 (GRCm39)	F153S	probably damaging	Het
Lrp1	T	C	10: 127,392,138 (GRCm39)	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,399,534 (GRCm39)	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,900,580 (GRCm39)	F295S	probably damaging	Het
Meis1	T	A	11: 18,960,608 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,484,579 (GRCm39)	I156K	probably benign	Het
Mmd2	T	C	5: 142,561,105 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,272,840 (GRCm39)	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405 (GRCm38)	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,343,014 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Or12e1	A	T	2: 87,022,247 (GRCm39)	N72I	probably benign	Het
Or2t49	T	A	11: 58,392,885 (GRCm39)	M166L	probably benign	Het
Or4e2	T	C	14: 52,688,296 (GRCm39)	V142A	probably benign	Het
Or5as1	A	T	2: 86,980,150 (GRCm39)	L285*	probably null	Het
Or8d1b	C	T	9: 38,887,706 (GRCm39)	L245F	probably damaging	Het
Pcdha1	T	C	18: 37,065,237 (GRCm39)	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,569,841 (GRCm39)	V329E	probably damaging	Het
Pcf11	A	T	7: 92,312,793 (GRCm39)	D193E	probably benign	Het
Pcsk1	G	C	13: 75,258,947 (GRCm39)	M240I	probably damaging	Het
Pdc	T	A	1: 150,208,892 (GRCm39)	I125N	probably damaging	Het
Plch2	C	T	4: 155,082,729 (GRCm39)	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Riok1	T	A	13: 38,236,926 (GRCm39)	I389N	probably damaging	Het
Ror1	T	A	4: 100,160,135 (GRCm39)	S50R	probably benign	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Siglec1	G	A	2: 130,915,876 (GRCm39)	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 130,925,932 (GRCm39)	N258S	probably damaging	Het
Slbp	G	A	5: 33,802,946 (GRCm39)	A126V	probably benign	Het
Slc12a4	A	T	8: 106,674,203 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Synpo2	C	A	3: 122,906,203 (GRCm39)	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,397,550 (GRCm39)	T374I	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem190	T	C	7: 4,787,132 (GRCm39)	L112P	probably damaging	Het
Tsc2	C	T	17: 24,816,042 (GRCm39)	R1715Q	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Vmn1r46	T	C	6: 89,953,811 (GRCm39)	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,392,609 (GRCm39)	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,468,164 (GRCm39)	I2799T	probably benign	Het
Zfp105	T	C	9: 122,759,696 (GRCm39)	S456P	probably damaging	Het

Other mutations in Arvcf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02155:Arvcf	APN	16	18,222,650 (GRCm39)	missense	probably damaging	1.00
IGL02901:Arvcf	APN	16	18,216,992 (GRCm39)	missense	probably damaging	0.99
IGL03218:Arvcf	APN	16	18,222,875 (GRCm39)	splice site	probably benign
IGL03239:Arvcf	APN	16	18,214,932 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Arvcf	UTSW	16	18,221,699 (GRCm39)	missense	possibly damaging	0.91
PIT4472001:Arvcf	UTSW	16	18,221,699 (GRCm39)	missense	possibly damaging	0.91
R0045:Arvcf	UTSW	16	18,222,208 (GRCm39)	missense	probably benign	0.40
R0068:Arvcf	UTSW	16	18,214,819 (GRCm39)	splice site	probably benign
R0068:Arvcf	UTSW	16	18,214,819 (GRCm39)	splice site	probably benign
R0873:Arvcf	UTSW	16	18,218,955 (GRCm39)	nonsense	probably null
R1227:Arvcf	UTSW	16	18,207,169 (GRCm39)	missense	probably benign	0.00
R1495:Arvcf	UTSW	16	18,207,251 (GRCm39)	missense	probably damaging	0.96
R2021:Arvcf	UTSW	16	18,218,482 (GRCm39)	missense	probably damaging	1.00
R3873:Arvcf	UTSW	16	18,221,783 (GRCm39)	missense	probably damaging	1.00
R4095:Arvcf	UTSW	16	18,220,327 (GRCm39)	missense	probably damaging	1.00
R4280:Arvcf	UTSW	16	18,216,741 (GRCm39)	missense	probably damaging	1.00
R4496:Arvcf	UTSW	16	18,223,932 (GRCm39)	missense	probably damaging	0.96
R4887:Arvcf	UTSW	16	18,216,863 (GRCm39)	nonsense	probably null
R5068:Arvcf	UTSW	16	18,217,736 (GRCm39)	missense	probably damaging	1.00
R5069:Arvcf	UTSW	16	18,217,736 (GRCm39)	missense	probably damaging	1.00
R5070:Arvcf	UTSW	16	18,217,736 (GRCm39)	missense	probably damaging	1.00
R5322:Arvcf	UTSW	16	18,215,508 (GRCm39)	missense	probably benign	0.00
R5400:Arvcf	UTSW	16	18,217,820 (GRCm39)	missense	probably benign	0.17
R6376:Arvcf	UTSW	16	18,223,882 (GRCm39)	missense	probably damaging	0.98
R6771:Arvcf	UTSW	16	18,222,614 (GRCm39)	missense	probably benign
R7106:Arvcf	UTSW	16	18,217,799 (GRCm39)	missense	probably damaging	0.99
R7176:Arvcf	UTSW	16	18,218,477 (GRCm39)	missense	probably damaging	1.00
R7202:Arvcf	UTSW	16	18,223,948 (GRCm39)	missense	probably damaging	1.00
R7412:Arvcf	UTSW	16	18,220,350 (GRCm39)	missense	probably benign	0.03
R7737:Arvcf	UTSW	16	18,214,966 (GRCm39)	missense	probably damaging	1.00
R7783:Arvcf	UTSW	16	18,207,063 (GRCm39)	missense	probably benign	0.30
R8852:Arvcf	UTSW	16	18,222,203 (GRCm39)	missense	probably benign	0.05
R8933:Arvcf	UTSW	16	18,218,845 (GRCm39)	missense	probably damaging	1.00
R8958:Arvcf	UTSW	16	18,221,376 (GRCm39)	missense	probably damaging	1.00
R9043:Arvcf	UTSW	16	18,218,452 (GRCm39)	missense	probably damaging	1.00
R9258:Arvcf	UTSW	16	18,216,957 (GRCm39)	missense	probably damaging	1.00
R9414:Arvcf	UTSW	16	18,215,580 (GRCm39)	missense	probably damaging	1.00
Z1088:Arvcf	UTSW	16	18,221,391 (GRCm39)	missense	probably damaging	1.00
Z1177:Arvcf	UTSW	16	18,207,164 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAATGCCCCTGATGAGAGGGAG -3'
(R):5'- ACTTGCTGCATGACTAGGAAAGAGC -3'

Sequencing Primer
(F):5'- CCTACGTACTCAGGACATGGTTAG -3'
(R):5'- TCTAGGGAACCCCACTCTGATG -3'

Posted On

2014-05-14