Mutagenetix > Incidental Mutation

Incidental Mutation 'R7412:Arvcf'

575181

Institutional Source

Beutler Lab

Gene Symbol

Arvcf

Ensembl Gene

ENSMUSG00000000325

Gene Name

armadillo repeat gene deleted in velocardiofacial syndrome

Synonyms

MMRRC Submission

045493-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7412 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18166046-18225826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18220350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 642 (D642G)

Ref Sequence

ENSEMBL: ENSMUSP00000087562 (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: D642G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325
AA Change: D642G

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: D572G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111273
Gene: ENSMUSG00000000325
AA Change: D572G

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: D636G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325
AA Change: D636G

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: D642G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325
AA Change: D642G

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: D636G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325
AA Change: D636G

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: D572G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000232025
AA Change: D578G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000232241

Meta Mutation Damage Score

0.1635

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (71/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,448,691 (GRCm39)	Y335*	probably null	Het
Alpk1	A	T	3: 127,466,143 (GRCm39)	L1121Q	probably damaging	Het
Alpk1	A	G	3: 127,489,382 (GRCm39)	I99T	probably damaging	Het
Ap2a2	T	A	7: 141,206,049 (GRCm39)	F717I	probably damaging	Het
Arhgap33	C	T	7: 30,222,477 (GRCm39)	D1152N	probably benign	Het
Astn1	T	G	1: 158,329,919 (GRCm39)	M258R	probably damaging	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Carmil1	T	C	13: 24,282,793 (GRCm39)	D547G	possibly damaging	Het
Ccdc177	A	G	12: 80,805,792 (GRCm39)	F161L	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cnot10	A	G	9: 114,454,971 (GRCm39)	Y221H	probably damaging	Het
Col6a3	T	A	1: 90,755,855 (GRCm39)	I145F	probably damaging	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp4f37	A	G	17: 32,848,818 (GRCm39)	S229G	possibly damaging	Het
Ddx56	G	A	11: 6,211,720 (GRCm39)	T462I	probably damaging	Het
Dhx30	T	C	9: 109,921,966 (GRCm39)	M239V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephb6	A	G	6: 41,597,173 (GRCm39)	K994E	probably damaging	Het
Fam83a	A	C	15: 57,849,821 (GRCm39)	T122P	probably benign	Het
Fbxo24	C	A	5: 137,617,885 (GRCm39)	C293F	possibly damaging	Het
Fech	A	T	18: 64,591,255 (GRCm39)	S390T	probably benign	Het
Fras1	A	G	5: 96,762,748 (GRCm39)	H750R	probably benign	Het
Frmpd2	A	G	14: 33,293,926 (GRCm39)	D1364G	probably benign	Het
Ganab	T	C	19: 8,889,892 (GRCm39)	I652T	probably benign	Het
Gm21103	T	A	14: 17,482,943 (GRCm39)	T153S	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	18: 80,132,967 (GRCm39)		probably benign	Het
Gm5799	A	G	14: 43,781,995 (GRCm39)	I56V	possibly damaging	Het
Gm7276	T	C	18: 77,273,183 (GRCm39)	R184G	unknown	Het
Gmip	T	G	8: 70,273,149 (GRCm39)	D845E	probably benign	Het
Hspa9	T	C	18: 35,082,082 (GRCm39)	K175E	probably damaging	Het
Ipo13	A	G	4: 117,752,068 (GRCm39)	F890L	probably benign	Het
Irag1	A	T	7: 110,522,963 (GRCm39)	V160D	probably benign	Het
Klrb1f	C	T	6: 129,033,308 (GRCm39)	R179*	probably null	Het
Nasp	A	G	4: 116,467,785 (GRCm39)	V400A	possibly damaging	Het
Ncoa7	T	A	10: 30,598,847 (GRCm39)	K25N	possibly damaging	Het
Ndrg1	A	C	15: 66,832,382 (GRCm39)	M1R	probably null	Het
Nf1	G	A	11: 79,364,240 (GRCm39)	A1557T	probably damaging	Het
Nrde2	G	A	12: 100,108,509 (GRCm39)	Q361*	probably null	Het
Opn1sw	A	T	6: 29,379,856 (GRCm39)	L126Q	probably damaging	Het
Or10ak16	A	T	4: 118,750,327 (GRCm39)	I16F	possibly damaging	Het
Or1af1	C	T	2: 37,109,774 (GRCm39)	T91I	possibly damaging	Het
Or1j4	T	C	2: 36,740,478 (GRCm39)	L140P	probably benign	Het
Or5au1	A	T	14: 52,273,310 (GRCm39)	L86*	probably null	Het
Or7g17	A	T	9: 18,768,085 (GRCm39)	I46F	possibly damaging	Het
Or8g50	T	C	9: 39,648,422 (GRCm39)	F104L	probably benign	Het
Osmr	A	G	15: 6,853,048 (GRCm39)	Y616H	probably damaging	Het
Pagr1a	T	C	7: 126,615,736 (GRCm39)	T120A	probably benign	Het
Patj	A	G	4: 98,299,376 (GRCm39)	E166G	probably damaging	Het
Plk4	G	A	3: 40,766,613 (GRCm39)	V764I	probably benign	Het
Polr3h	G	A	15: 81,800,602 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,177,043 (GRCm39)	D989E	probably benign	Het
Sdk2	A	T	11: 113,758,909 (GRCm39)		probably null	Het
Setd1b	C	A	5: 123,290,639 (GRCm39)	R869S	unknown	Het
Sgcz	T	C	8: 37,990,565 (GRCm39)	I263V	probably benign	Het
Skint8	G	A	4: 111,785,758 (GRCm39)	G68D	probably benign	Het
Slc22a7	A	T	17: 46,745,553 (GRCm39)	V326E	probably benign	Het
Slc39a1	T	G	3: 90,156,396 (GRCm39)	L38R	probably damaging	Het
Slc4a4	A	G	5: 89,362,506 (GRCm39)		probably null	Het
Sptlc3	A	G	2: 139,431,537 (GRCm39)	E353G	possibly damaging	Het
Ssh2	G	T	11: 77,340,934 (GRCm39)	L695F	probably damaging	Het
Tacr2	C	A	10: 62,097,427 (GRCm39)	Y302*	probably null	Het
Tas2r117	T	C	6: 132,780,192 (GRCm39)	L110P	probably damaging	Het
Tex9	A	T	9: 72,394,060 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,468,645 (GRCm39)	T195S	probably benign	Het
Trcg1	T	A	9: 57,148,766 (GRCm39)	S113T	probably benign	Het
Trpa1	A	T	1: 14,954,422 (GRCm39)	F826I	probably benign	Het
Usp17lc	A	G	7: 103,067,575 (GRCm39)	Y290C	probably damaging	Het
Vmn2r32	T	A	7: 7,477,212 (GRCm39)	D393V	possibly damaging	Het
Wdfy4	A	G	14: 32,871,541 (GRCm39)	L290P		Het
Xpnpep1	G	C	19: 52,994,722 (GRCm39)	A302G	probably benign	Het
Xrn2	T	C	2: 146,891,266 (GRCm39)	L692P	probably damaging	Het
Zgrf1	A	G	3: 127,356,720 (GRCm39)	S649G	probably benign	Het
Zscan4b	C	T	7: 10,634,791 (GRCm39)	C484Y	probably damaging	Het
Zscan4b	T	C	7: 10,635,820 (GRCm39)	D169G	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
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
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'- GACTTCTCTGAGGACAGTACATC -3'
(R):5'- TGTACGTACCGACTGAACCC -3'

Sequencing Primer
(F):5'- TGAGGACAGTACATCTCTGCCAG -3'
(R):5'- CCTAGGCCATTCTCTAGGGAAC -3'

Posted On

2019-10-07