Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Arvcf'

377015

Institutional Source

Beutler Lab

Gene Symbol

Arvcf

Ensembl Gene

ENSMUSG00000000325

Gene Name

armadillo repeat gene deleted in velocardiofacial syndrome

Synonyms

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4887 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

18166046-18225826 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 18216863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 333 (R333*)

Ref Sequence

ENSEMBL: ENSMUSP00000155883 (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 null
Transcript: ENSMUST00000090103
AA Change: R397*

SMART Domains

Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325
AA Change: R397*

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 null
Transcript: ENSMUST00000115610
AA Change: R333*

SMART Domains

Protein: ENSMUSP00000111273
Gene: ENSMUSG00000000325
AA Change: R333*

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 null
Transcript: ENSMUST00000115612
AA Change: R397*

SMART Domains

Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325
AA Change: R397*

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 null
Transcript: ENSMUST00000115613
AA Change: R397*

SMART Domains

Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325
AA Change: R397*

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 null
Transcript: ENSMUST00000115614
AA Change: R397*

SMART Domains

Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325
AA Change: R397*

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

probably null
Transcript: ENSMUST00000150253
AA Change: R333*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150484

Predicted Effect

probably null
Transcript: ENSMUST00000232025
AA Change: R333*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231791

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	C	1: 138,779,903 (GRCm39)	Y116*	probably null	Het
Abtb3	C	T	10: 85,223,242 (GRCm39)	T17M	unknown	Het
Acer3	T	C	7: 97,906,908 (GRCm39)	T91A	possibly damaging	Het
Acsbg3	A	T	17: 57,183,324 (GRCm39)	I22F	possibly damaging	Het
Adam12	T	C	7: 133,774,550 (GRCm39)	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,223,822 (GRCm39)	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,330,374 (GRCm39)	V98I	probably benign	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Alpk1	C	T	3: 127,467,124 (GRCm39)	G1052R	probably damaging	Het
Anln	A	T	9: 22,291,484 (GRCm39)	S115T	possibly damaging	Het
Apob	T	A	12: 8,063,099 (GRCm39)	N3827K	probably damaging	Het
Aqr	G	A	2: 113,980,990 (GRCm39)	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,231,617 (GRCm39)	S123G	probably damaging	Het
Brca2	T	A	5: 150,480,402 (GRCm39)	L2724Q	probably damaging	Het
C2cd6	T	A	1: 59,133,893 (GRCm39)	T43S	probably benign	Het
Cacna1h	A	G	17: 25,596,261 (GRCm39)	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,858 (GRCm39)	I26F	possibly damaging	Het
Card10	A	T	15: 78,665,724 (GRCm39)	V673E	possibly damaging	Het
Catspere2	A	G	1: 177,931,515 (GRCm39)	Y478C	unknown	Het
Ccar1	A	G	10: 62,588,997 (GRCm39)	S829P	unknown	Het
Ccdc121	A	G	5: 31,643,596 (GRCm39)	I109V	probably benign	Het
Cdc42bpa	T	C	1: 179,972,200 (GRCm39)	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,220,257 (GRCm39)	C267Y	probably benign	Het
Cep68	G	A	11: 20,189,239 (GRCm39)	T591M	probably benign	Het
Chil4	T	C	3: 106,111,460 (GRCm39)	K218R	probably benign	Het
Cldn14	G	T	16: 93,716,747 (GRCm39)	T33K	possibly damaging	Het
Copa	T	A	1: 171,919,843 (GRCm39)	C140S	probably benign	Het
Coq6	T	C	12: 84,419,070 (GRCm39)	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,521,816 (GRCm39)	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,474,093 (GRCm39)	S414A	probably benign	Het
Dpm1	T	C	2: 168,059,679 (GRCm39)	N139S	probably benign	Het
Dpp7	T	A	2: 25,242,770 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,057,447 (GRCm39)	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Fam135a	G	A	1: 24,063,334 (GRCm39)	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866 (GRCm39)	T275A	probably benign	Het
Fbn1	T	A	2: 125,151,694 (GRCm39)	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,409,527 (GRCm39)	S587P	unknown	Het
Foxr2	A	G	X: 151,913,312 (GRCm39)	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,696,065 (GRCm39)	*124W	probably null	Het
Gm7535	T	A	17: 18,131,333 (GRCm39)		probably benign	Het
H4c1	T	C	13: 23,944,935 (GRCm39)	D69G	probably damaging	Het
Herc3	T	C	6: 58,864,484 (GRCm39)	V706A	probably damaging	Het
Hivep3	A	G	4: 119,980,131 (GRCm39)	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,233,946 (GRCm39)	I382V	probably benign	Het
Ints1	G	T	5: 139,756,911 (GRCm39)	T467N	possibly damaging	Het
Iqca1	G	A	1: 89,973,423 (GRCm39)	T783M	probably damaging	Het
Kng1	A	G	16: 22,886,448 (GRCm39)	K131R	possibly damaging	Het
Krt35	T	C	11: 99,983,956 (GRCm39)	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 101,943,881 (GRCm39)	C64R	probably damaging	Het
Lilrb4b	C	T	10: 51,360,616 (GRCm39)	A272V	possibly damaging	Het
Lrrc37	T	C	11: 103,505,698 (GRCm39)	H2090R	probably benign	Het
Ltn1	A	T	16: 87,195,697 (GRCm39)	C1276*	probably null	Het
Matn1	G	A	4: 130,679,425 (GRCm39)	A360T	probably benign	Het
Minpp1	G	A	19: 32,475,784 (GRCm39)	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904 (GRCm39)	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,195,616 (GRCm39)		probably benign	Het
Ms4a2	A	G	19: 11,595,793 (GRCm39)	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,013,913 (GRCm39)	Y235*	probably null	Het
Myh4	G	T	11: 67,131,880 (GRCm39)	W113C	probably damaging	Het
Nav2	T	A	7: 49,198,182 (GRCm39)	C1270*	probably null	Het
Ncoa5	A	G	2: 164,844,070 (GRCm39)	L111P	probably damaging	Het
Nup107	T	C	10: 117,606,383 (GRCm39)	Y453C	probably damaging	Het
Oca2	C	T	7: 55,980,106 (GRCm39)	Q604*	probably null	Het
Or13a19	T	C	7: 139,903,014 (GRCm39)	M134T	probably benign	Het
Or13p5	A	C	4: 118,591,885 (GRCm39)	H53P	probably benign	Het
Or14j10	A	T	17: 37,934,782 (GRCm39)	V248D	probably damaging	Het
Or5p58	T	A	7: 107,694,303 (GRCm39)	N158I	probably benign	Het
Or8g33	T	C	9: 39,337,531 (GRCm39)	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,416,668 (GRCm39)	G514V	possibly damaging	Het
Pik3cb	A	T	9: 98,983,381 (GRCm39)	C76S	probably damaging	Het
Plk1	T	C	7: 121,767,828 (GRCm39)	V411A	probably damaging	Het
Pole	C	T	5: 110,472,619 (GRCm39)	P1600L	probably damaging	Het
Prr36	T	C	8: 4,260,881 (GRCm39)	T979A	probably benign	Het
Rdh7	T	A	10: 127,721,590 (GRCm39)	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,842,835 (GRCm39)	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,530,891 (GRCm39)	S947T	probably benign	Het
Rtl1	A	G	12: 109,558,138 (GRCm39)	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,841,708 (GRCm39)	M279I	probably damaging	Het
Siae	T	C	9: 37,539,096 (GRCm39)	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,113,148 (GRCm39)	V364I	probably benign	Het
Sltm	G	T	9: 70,496,260 (GRCm39)	V932F	probably damaging	Het
Smad1	A	G	8: 80,076,381 (GRCm39)	L279P	probably damaging	Het
Spag17	G	T	3: 99,958,147 (GRCm39)	G935V	probably damaging	Het
Srgap3	A	G	6: 112,723,895 (GRCm39)	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,684,844 (GRCm39)	I519V	probably benign	Het
Syt16	A	T	12: 74,176,160 (GRCm39)	I10F	probably damaging	Het
Trim43b	C	G	9: 88,973,365 (GRCm39)	G123R	probably damaging	Het
Ubr3	T	C	2: 69,843,475 (GRCm39)	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,380,985 (GRCm39)	W303R	probably benign	Het
Wdr93	T	C	7: 79,435,522 (GRCm39)	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,224,478 (GRCm39)	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776 (GRCm39)	C394Y	possibly 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
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
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'- AGCTGATAGAAGAGCGTCCC -3'
(R):5'- TCACGGACCTCATTGTCAC -3'

Sequencing Primer
(F):5'- TGATAGAAGAGCGTCCCCCATTTC -3'
(R):5'- ACCTCATTGTCACGGGCC -3'

Posted On

2016-03-17