Incidental Mutation 'R7202:Arvcf'
ID 560402
Institutional Source Beutler Lab
Gene Symbol Arvcf
Ensembl Gene ENSMUSG00000000325
Gene Name armadillo repeat gene deleted in velocardiofacial syndrome
Synonyms
MMRRC Submission 045280-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7202 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 18166046-18225826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18223948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 960 (S960P)
Ref Sequence ENSEMBL: ENSMUSP00000087562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000335] [ENSMUST00000090103] [ENSMUST00000115609] [ENSMUST00000115610] [ENSMUST00000115612] [ENSMUST00000115613] [ENSMUST00000115614] [ENSMUST00000150253] [ENSMUST00000165430] [ENSMUST00000232025] [ENSMUST00000232241]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000335
SMART Domains Protein: ENSMUSP00000000335
Gene: ENSMUSG00000000326

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000090103
AA Change: S960P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325
AA Change: S960P

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: ENSMUST00000115609
SMART Domains Protein: ENSMUSP00000111272
Gene: ENSMUSG00000000326

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000115610
AA Change: S890P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111273
Gene: ENSMUSG00000000325
AA Change: S890P

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 damaging
Transcript: ENSMUST00000115612
AA Change: S954P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325
AA Change: S954P

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 damaging
Transcript: ENSMUST00000115613
AA Change: S960P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325
AA Change: S960P

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 damaging
Transcript: ENSMUST00000115614
AA Change: S954P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325
AA Change: S954P

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 damaging
Transcript: ENSMUST00000150253
AA Change: S890P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000165430
SMART Domains Protein: ENSMUSP00000130077
Gene: ENSMUSG00000000326

DomainStartEndE-ValueType
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
Predicted Effect probably damaging
Transcript: ENSMUST00000232025
AA Change: S896P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232241
Meta Mutation Damage Score 0.1029 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,917,236 (GRCm39) I1467T probably damaging Het
Abtb3 A G 10: 85,223,629 (GRCm39) E146G unknown Het
Adgrf3 T A 5: 30,409,378 (GRCm39) K38* probably null Het
Ahdc1 T A 4: 132,789,198 (GRCm39) C146* probably null Het
Ahnak A T 19: 8,995,163 (GRCm39) K5482N probably damaging Het
Arhgap23 C T 11: 97,342,819 (GRCm39) A367V possibly damaging Het
Asb14 C A 14: 26,622,394 (GRCm39) P74Q probably benign Het
Atad5 T C 11: 79,980,601 (GRCm39) V2A probably damaging Het
Baz2a A G 10: 127,954,428 (GRCm39) I691M possibly damaging Het
Brca2 A G 5: 150,455,819 (GRCm39) T187A probably benign Het
Calr4 T A 4: 109,101,254 (GRCm39) N152K possibly damaging Het
Ccnb2 C T 9: 70,318,128 (GRCm39) A215T probably damaging Het
Cdh16 C T 8: 105,340,780 (GRCm39) D140N unknown Het
Ces1g T C 8: 94,029,595 (GRCm39) T546A probably benign Het
Cfap74 G T 4: 155,510,654 (GRCm39) probably null Het
Cfap91 T C 16: 38,155,959 (GRCm39) Y88C probably benign Het
Col5a1 G T 2: 27,842,390 (GRCm39) D422Y unknown Het
Cyp2c66 A T 19: 39,130,348 (GRCm39) Y61F probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah6 A G 6: 73,158,688 (GRCm39) probably null Het
Dop1a T G 9: 86,386,220 (GRCm39) probably null Het
Fam163a A G 1: 155,954,834 (GRCm39) F106L probably damaging Het
Gfy T C 7: 44,827,596 (GRCm39) T167A probably benign Het
Gm6525 A T 3: 84,082,341 (GRCm39) R87S probably benign Het
Gramd1c C A 16: 43,879,584 (GRCm39) A19S possibly damaging Het
Herc2 T C 7: 55,781,034 (GRCm39) V1233A probably damaging Het
Hibch G A 1: 52,892,874 (GRCm39) probably null Het
Ibsp A T 5: 104,450,027 (GRCm39) S9C probably benign Het
Il17ra A G 6: 120,452,572 (GRCm39) I252V probably benign Het
Ino80 A T 2: 119,204,918 (GRCm39) M1536K probably benign Het
Ipo11 A T 13: 107,012,078 (GRCm39) L568Q probably damaging Het
Kcnu1 T G 8: 26,409,609 (GRCm39) probably null Het
Kdm5b T G 1: 134,552,497 (GRCm39) S1158A probably benign Het
Kmt2a T C 9: 44,759,012 (GRCm39) T946A probably benign Het
Kmt2e A T 5: 23,697,292 (GRCm39) probably benign Het
Krba1 G A 6: 48,389,261 (GRCm39) V594M probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lig1 C T 7: 13,025,175 (GRCm39) P227S probably benign Het
Lims2 T A 18: 32,090,017 (GRCm39) D255E probably benign Het
Marchf3 C T 18: 56,909,161 (GRCm39) C208Y probably benign Het
Mei1 A G 15: 81,976,843 (GRCm39) E142G Het
Melk G T 4: 44,351,106 (GRCm39) R549L probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myorg T C 4: 41,498,268 (GRCm39) Y454C probably damaging Het
Nae1 T C 8: 105,250,215 (GRCm39) Y226C possibly damaging Het
Nap1l1 T C 10: 111,326,964 (GRCm39) F175S probably damaging Het
Ndn T C 7: 61,998,709 (GRCm39) L185P probably damaging Het
Ndst3 T A 3: 123,465,388 (GRCm39) I195F possibly damaging Het
Ndufaf1 A T 2: 119,488,907 (GRCm39) S206T probably benign Het
Nek10 C A 14: 14,836,171 (GRCm38) H131N probably benign Het
Obsl1 T A 1: 75,466,360 (GRCm39) D1456V possibly damaging Het
Or10a2 A G 7: 106,673,448 (GRCm39) N138D probably benign Het
Or10ak7 C T 4: 118,791,215 (GRCm39) V277I probably benign Het
Or52s6 T A 7: 103,092,292 (GRCm39) T13S probably benign Het
Otog C T 7: 45,937,474 (GRCm39) L1728F probably damaging Het
Pcx A T 19: 4,652,361 (GRCm39) M150L possibly damaging Het
Pole A G 5: 110,444,973 (GRCm39) D443G possibly damaging Het
Prr14 G T 7: 127,075,648 (GRCm39) R552L probably damaging Het
Rasgrf1 T G 9: 89,899,125 (GRCm39) S1156A possibly damaging Het
Rfc4 T A 16: 22,946,359 (GRCm39) probably benign Het
Rfx5 G T 3: 94,866,272 (GRCm39) A524S unknown Het
Ryr3 G A 2: 112,596,664 (GRCm39) P2497S probably damaging Het
Scg3 T C 9: 75,590,992 (GRCm39) T6A probably benign Het
Slc26a9 A T 1: 131,690,526 (GRCm39) D510V possibly damaging Het
Stpg3 A G 2: 25,104,586 (GRCm39) F10L probably damaging Het
Tmc5 T A 7: 118,239,179 (GRCm39) H357Q possibly damaging Het
Tmem40 A T 6: 115,707,420 (GRCm39) L253H probably damaging Het
Tmie A G 9: 110,696,632 (GRCm39) V83A probably damaging Het
Uck2 A T 1: 167,054,084 (GRCm39) I218N probably damaging Het
Vtn A G 11: 78,391,626 (GRCm39) D310G possibly damaging Het
Wdr49 A T 3: 75,240,580 (GRCm39) S430T probably benign Het
Wtip A G 7: 33,832,087 (GRCm39) V133A probably benign Het
Zbtb9 T A 17: 27,193,666 (GRCm39) V357E probably damaging Het
Zfp953 G A 13: 67,491,706 (GRCm39) T82M probably benign 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
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
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'- GCCTACCCTTAGTTGCAGTTAACC -3'
(R):5'- AGAACCAGTCCTGTCTTGCG -3'

Sequencing Primer
(F):5'- CAGTTAACCTGCTTTTATTTTCTGC -3'
(R):5'- AAATAGGGGGCCTGTTTCCC -3'
Posted On 2019-06-26