Mutagenetix > Incidental Mutation

Incidental Mutation 'R6376:Arvcf'

515011

Institutional Source

Beutler Lab

Gene Symbol

Arvcf

Ensembl Gene

ENSMUSG00000000325

Gene Name

armadillo repeat gene deleted in velocardiofacial syndrome

Synonyms

MMRRC Submission

044526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18166046-18225826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18223882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 932 (G932R)

Ref Sequence

ENSEMBL: ENSMUSP00000111278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000335] [ENSMUST00000090103] [ENSMUST00000115609] [ENSMUST00000115610] [ENSMUST00000115612] [ENSMUST00000115613] [ENSMUST00000115614] [ENSMUST00000150253] [ENSMUST00000232025] [ENSMUST00000232241] [ENSMUST00000165430]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000335

SMART Domains

Protein: ENSMUSP00000000335
Gene: ENSMUSG00000000326

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	63	224	3.5e-24	PFAM
Pfam:Methyltransf_26	102	224	3.3e-9	PFAM
Pfam:Methyltransf_24	106	214	1.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090103
AA Change: G938R

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325
AA Change: G938R

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: ENSMUST00000115609

SMART Domains

Protein: ENSMUSP00000111272
Gene: ENSMUSG00000000326

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	63	224	3.5e-24	PFAM
Pfam:Methyltransf_26	102	224	3.3e-9	PFAM
Pfam:Methyltransf_24	106	214	1.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115610
AA Change: G868R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000111273
Gene: ENSMUSG00000000325
AA Change: G868R

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: G932R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325
AA Change: G932R

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: G938R

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325
AA Change: G938R

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: G932R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325
AA Change: G932R

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
AA Change: G868R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000232025
AA Change: G874R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000232241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152132

Predicted Effect

probably benign
Transcript: ENSMUST00000165430

SMART Domains

Protein: ENSMUSP00000130077
Gene: ENSMUSG00000000326

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	57	221	1.1e-22	PFAM
Pfam:Methyltransf_24	106	214	6.2e-14	PFAM

Meta Mutation Damage Score

0.0646

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,339,456 (GRCm39)	E106D	probably damaging	Het
A830018L16Rik	A	T	1: 11,868,718 (GRCm39)	N333Y	probably damaging	Het
Abca4	T	A	3: 121,917,309 (GRCm39)	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,687,343 (GRCm39)	I495F	probably damaging	Het
Acsl3	T	C	1: 78,674,182 (GRCm39)	S373P	possibly damaging	Het
Adam7	A	G	14: 68,742,546 (GRCm39)	I689T	possibly damaging	Het
Akap11	G	A	14: 78,752,336 (GRCm39)	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,816,187 (GRCm39)	K309R	possibly damaging	Het
Apaf1	A	T	10: 90,859,673 (GRCm39)	I824N	probably damaging	Het
Apc2	T	A	10: 80,148,488 (GRCm39)	C1152S	probably damaging	Het
Arhgap17	C	A	7: 122,899,727 (GRCm39)	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,845,796 (GRCm39)	I19V	unknown	Het
Arnt	C	A	3: 95,397,936 (GRCm39)	P573H	probably damaging	Het
Atg4a-ps	C	T	3: 103,553,044 (GRCm39)	W99*	probably null	Het
Atp13a5	T	A	16: 29,056,004 (GRCm39)	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,642,797 (GRCm39)	T1103A	probably damaging	Het
B4galnt4	C	A	7: 140,647,335 (GRCm39)	Q362K	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cep170b	A	T	12: 112,698,502 (GRCm39)	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486 (GRCm39)	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,044 (GRCm39)	Q62L	probably benign	Het
Ctsg	A	T	14: 56,339,110 (GRCm39)	C49*	probably null	Het
Cul9	T	C	17: 46,819,489 (GRCm39)	T2000A	probably damaging	Het
Dedd	C	T	1: 171,167,790 (GRCm39)	P155S	probably benign	Het
Dnah1	A	G	14: 30,997,565 (GRCm39)	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,433,459 (GRCm39)	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703 (GRCm39)	S519R	probably benign	Het
Eea1	A	G	10: 95,874,660 (GRCm39)	S1192G	probably benign	Het
Eif5b	T	C	1: 38,084,760 (GRCm39)	I869T	probably damaging	Het
Elavl4	C	A	4: 110,112,651 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,203,635 (GRCm39)	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,778,757 (GRCm39)	Y144C	probably damaging	Het
Greb1	T	C	12: 16,749,580 (GRCm39)	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,890,798 (GRCm39)		probably null	Het
Hoxc12	C	A	15: 102,845,524 (GRCm39)	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,547,491 (GRCm39)	L164I	probably damaging	Het
Ina	C	T	19: 47,003,564 (GRCm39)	A124V	probably benign	Het
Inhbb	T	A	1: 119,345,411 (GRCm39)	I293F	probably damaging	Het
Itpr3	A	G	17: 27,314,449 (GRCm39)	Y633C	possibly damaging	Het
Jag2	C	T	12: 112,872,949 (GRCm39)	V1102I	probably benign	Het
Kalrn	A	T	16: 33,796,361 (GRCm39)	F1138Y	probably benign	Het
Large2	T	A	2: 92,200,853 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,959,966 (GRCm39)	S177P	probably benign	Het
Lims2	G	A	18: 32,087,515 (GRCm39)	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,313,787 (GRCm39)	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,459,391 (GRCm39)	T6P	probably benign	Het
Lrrk2	T	C	15: 91,626,469 (GRCm39)	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,978,378 (GRCm39)	M302K	probably damaging	Het
Mocos	G	A	18: 24,834,542 (GRCm39)	G860R	possibly damaging	Het
Mylk3	T	A	8: 86,085,571 (GRCm39)	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,201,240 (GRCm39)	D6N	probably damaging	Het
Nrp2	A	G	1: 62,758,176 (GRCm39)	N54S	possibly damaging	Het
Nt5el	T	C	13: 105,256,473 (GRCm39)	I514T	possibly damaging	Het
Or2d2	A	G	7: 106,727,848 (GRCm39)	F251L	probably benign	Het
Pacsin1	A	T	17: 27,926,879 (GRCm39)	T195S	probably benign	Het
Pank4	T	C	4: 155,056,693 (GRCm39)		probably null	Het
Pdgfra	A	T	5: 75,327,180 (GRCm39)	M126L	probably benign	Het
Podxl	T	A	6: 31,505,432 (GRCm39)	T204S	probably benign	Het
Pole	G	A	5: 110,484,240 (GRCm39)	D2175N	probably damaging	Het
Pramel16	C	T	4: 143,677,267 (GRCm39)	G104E	probably benign	Het
Prkdc	A	G	16: 15,587,749 (GRCm39)	K2545E	probably benign	Het
Prodh	T	C	16: 17,897,849 (GRCm39)	I183V	probably benign	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,684,988 (GRCm39)	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,269,834 (GRCm39)	N164S	probably benign	Het
Samd4	A	T	14: 47,290,419 (GRCm39)	L175F	probably damaging	Het
Scart1	G	A	7: 139,808,642 (GRCm39)	G851D	probably damaging	Het
Scimp	C	A	11: 70,688,893 (GRCm39)	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,291,843 (GRCm39)	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,030,888 (GRCm39)	R957G	probably benign	Het
Sptlc3	T	A	2: 139,478,692 (GRCm39)	N550K	probably benign	Het
Srebf1	T	C	11: 60,094,361 (GRCm39)	N609D	probably null	Het
Styxl1	A	T	5: 135,776,664 (GRCm39)	L164H	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,267 (GRCm39)	M19V	probably damaging	Het
Trappc8	G	C	18: 20,970,132 (GRCm39)	R953G	probably benign	Het
Trav13-1	A	G	14: 53,782,800 (GRCm39)	N50S	probably benign	Het
Trim12a	T	C	7: 103,955,241 (GRCm39)	K161E	probably benign	Het
Vipr1	C	A	9: 121,493,640 (GRCm39)	N230K	probably damaging	Het
Xirp1	A	T	9: 119,847,557 (GRCm39)	V3E	probably damaging	Het
Zfp768	A	G	7: 126,943,892 (GRCm39)	F82L	probably benign	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
R1717:Arvcf	UTSW	16	18,220,319 (GRCm39)	missense	possibly damaging	0.52
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
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'- CCTCTGGGTACATTCATGTGTG -3'
(R):5'- ATAGGGAGCTCAGTCATGCAG -3'

Sequencing Primer
(F):5'- GGTACATTCATGTGTGAGCCATAACC -3'
(R):5'- GAGCTCAGTCATGCAGCAAGC -3'

Posted On

2018-05-04