Incidental Mutation 'R0068:Arvcf'
ID 18019
Institutional Source Beutler Lab
Gene Symbol Arvcf
Ensembl Gene ENSMUSG00000000325
Gene Name armadillo repeat gene deleted in velocardiofacial syndrome
Synonyms
MMRRC Submission 038359-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0068 (G1)
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 18166046-18225826 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 18214819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000090103
SMART Domains Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000150253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155548
Predicted Effect probably benign
Transcript: ENSMUST00000232025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231791
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 97.6%
  • 10x: 82.1%
  • 20x: 74.0%
Validation Efficiency 94% (83/88)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,036,405 (GRCm39) N568S probably damaging Het
Aldoart2 G T 12: 55,612,233 (GRCm39) E53* probably null Het
Ankra2 C T 13: 98,409,891 (GRCm39) Q137* probably null Het
Arpc1a C T 5: 145,028,054 (GRCm39) T21I possibly damaging Het
Ash1l C A 3: 88,914,624 (GRCm39) S1751R probably benign Het
Bltp1 A G 3: 37,006,370 (GRCm39) T1675A probably benign Het
Bsn C A 9: 107,989,336 (GRCm39) G2139C probably damaging Het
Cbl A T 9: 44,065,491 (GRCm39) S22T probably damaging Het
Ccdc148 T C 2: 58,717,629 (GRCm39) E530G probably benign Het
Cct3 A G 3: 88,225,772 (GRCm39) D365G probably benign Het
Cep85 A T 4: 133,881,606 (GRCm39) H332Q probably benign Het
Cwf19l1 A T 19: 44,119,938 (GRCm39) Y68N probably damaging Het
Dlc1 T A 8: 37,404,875 (GRCm39) M305L probably benign Het
Dnm1l C A 16: 16,141,883 (GRCm39) G288C probably damaging Het
Exoc7 T C 11: 116,195,732 (GRCm39) Y83C probably damaging Het
Fignl2 A T 15: 100,952,129 (GRCm39) I51N probably damaging Het
Flnb A G 14: 7,915,290 (GRCm38) N1474D possibly damaging Het
Ghrhr C T 6: 55,357,849 (GRCm39) probably benign Het
Gucy1b1 T C 3: 81,942,185 (GRCm39) T525A probably benign Het
Hhip T G 8: 80,715,885 (GRCm39) D557A probably damaging Het
Hps5 A G 7: 46,426,466 (GRCm39) probably benign Het
Igsf10 A T 3: 59,238,045 (GRCm39) V712D probably damaging Het
Irf6 G T 1: 192,848,067 (GRCm39) probably benign Het
Itpr3 T C 17: 27,323,034 (GRCm39) probably benign Het
Jag2 A G 12: 112,878,813 (GRCm39) probably benign Het
Kansl1l A G 1: 66,760,047 (GRCm39) V911A probably benign Het
Kdm3b C T 18: 34,957,827 (GRCm39) T1064I probably benign Het
Lrriq1 T A 10: 102,899,279 (GRCm39) Q1654L probably benign Het
Ltbp1 A G 17: 75,666,404 (GRCm39) T1366A probably damaging Het
Mroh1 A G 15: 76,330,892 (GRCm39) probably benign Het
Napb G A 2: 148,540,843 (GRCm39) probably benign Het
Nebl T A 2: 17,439,782 (GRCm39) R164* probably null Het
Npc1 G C 18: 12,341,424 (GRCm39) P532A probably benign Het
Nrp2 G T 1: 62,784,536 (GRCm39) K228N possibly damaging Het
Or13f5 T A 4: 52,825,503 (GRCm39) Y35* probably null Het
Plekhg1 A T 10: 3,890,502 (GRCm39) Y386F probably damaging Het
Pmfbp1 G C 8: 110,269,011 (GRCm39) probably benign Het
Poln T C 5: 34,234,432 (GRCm39) probably benign Het
Polr1c A G 17: 46,555,829 (GRCm39) V200A probably benign Het
Ppil1 A T 17: 29,471,230 (GRCm39) F92I probably damaging Het
Ptchd3 T G 11: 121,733,798 (GRCm39) L896R probably damaging Het
Rev3l A G 10: 39,700,827 (GRCm39) N1775D possibly damaging Het
Robo4 G A 9: 37,315,773 (GRCm39) R342Q probably benign Het
Rusc2 T C 4: 43,424,100 (GRCm39) probably benign Het
S100pbp T C 4: 129,038,249 (GRCm39) probably benign Het
Slc25a48 T C 13: 56,599,024 (GRCm39) V118A probably damaging Het
Slc38a10 T C 11: 120,025,679 (GRCm39) D219G probably damaging Het
Slc38a2 C T 15: 96,589,173 (GRCm39) probably null Het
Slc39a12 A G 2: 14,440,489 (GRCm39) E480G probably benign Het
Tab2 C A 10: 7,795,441 (GRCm39) R347L probably damaging Het
Tas2r123 T C 6: 132,824,955 (GRCm39) I284T possibly damaging Het
Tex9 A G 9: 72,394,051 (GRCm39) probably benign Het
Tifab A G 13: 56,324,218 (GRCm39) L75P probably damaging Het
Tmc5 T A 7: 118,233,460 (GRCm39) D91E probably benign Het
Tnks1bp1 T A 2: 84,892,696 (GRCm39) D212E probably benign Het
Ugcg A G 4: 59,217,130 (GRCm39) D218G probably benign Het
Zfp451 A T 1: 33,816,706 (GRCm39) L198I probably damaging Het
Other mutations in Arvcf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-03-25