Incidental Mutation 'R4095:Arvcf'
| ID |
317886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arvcf
|
| Ensembl Gene |
ENSMUSG00000000325 |
| Gene Name |
armadillo repeat gene deleted in velocardiofacial syndrome |
| Synonyms |
|
| MMRRC Submission |
040858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4095 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18166046-18225826 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18220327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 564
(D564E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111273
(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: D634E
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325
AA Change: D634E
| 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: ENSMUST00000115610
AA Change: D564E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111273
Gene: ENSMUSG00000000325
AA Change: D564E
| 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: D628E
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325
AA Change: D628E
| 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: D634E
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325
AA Change: D634E
| 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: D628E
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325
AA Change: D628E
| 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 benign
Transcript: ENSMUST00000150253
AA Change: D564E
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155548
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232025
AA Change: D570E
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231791
|
| Meta Mutation Damage Score |
0.0691 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (59/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
T |
12: 53,186,245 (GRCm39) |
I1220L |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Apba1 |
A |
T |
19: 23,921,388 (GRCm39) |
Q737L |
probably benign |
Het |
| Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
| Brd9 |
G |
A |
13: 74,092,918 (GRCm39) |
V302I |
probably benign |
Het |
| Brinp3 |
C |
A |
1: 146,777,430 (GRCm39) |
H626N |
possibly damaging |
Het |
| C1qc |
T |
C |
4: 136,617,637 (GRCm39) |
N153S |
probably benign |
Het |
| Casp3 |
G |
A |
8: 47,087,251 (GRCm39) |
G66D |
probably damaging |
Het |
| Coq7 |
T |
G |
7: 118,126,701 (GRCm39) |
|
probably null |
Het |
| Dach1 |
C |
T |
14: 98,138,815 (GRCm39) |
V491M |
possibly damaging |
Het |
| Dda1 |
A |
G |
8: 71,926,436 (GRCm39) |
T52A |
possibly damaging |
Het |
| Entpd7 |
A |
G |
19: 43,692,640 (GRCm39) |
Y65C |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,991,535 (GRCm39) |
D350G |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
| Gbp2 |
A |
G |
3: 142,343,210 (GRCm39) |
T576A |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,590 (GRCm39) |
|
probably null |
Het |
| Gtf2a1 |
G |
T |
12: 91,542,411 (GRCm39) |
T57K |
possibly damaging |
Het |
| Hps5 |
T |
C |
7: 46,425,218 (GRCm39) |
E494G |
probably benign |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,268,179 (GRCm39) |
N2886S |
probably damaging |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,773 (GRCm39) |
Y112C |
probably damaging |
Het |
| Kcnf1 |
A |
T |
12: 17,225,480 (GRCm39) |
L247Q |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,516,938 (GRCm39) |
M1606V |
possibly damaging |
Het |
| Krt27 |
T |
C |
11: 99,236,619 (GRCm39) |
T431A |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,973,118 (GRCm39) |
I1562F |
probably damaging |
Het |
| Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,339,203 (GRCm39) |
T880I |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
| Mapt |
T |
C |
11: 104,201,362 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
T |
4: 81,302,060 (GRCm39) |
V229D |
possibly damaging |
Het |
| Or10am5 |
T |
A |
7: 6,518,252 (GRCm39) |
S59C |
possibly damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,188 (GRCm39) |
T55A |
probably benign |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,039 (GRCm39) |
S136P |
probably benign |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,003 (GRCm39) |
S331R |
probably benign |
Het |
| Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
| Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
| Rell1 |
C |
A |
5: 64,126,013 (GRCm39) |
V22L |
probably benign |
Het |
| Sema6c |
T |
A |
3: 95,080,505 (GRCm39) |
L901Q |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc22a23 |
A |
G |
13: 34,489,189 (GRCm39) |
L116P |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,596,925 (GRCm39) |
|
probably benign |
Het |
| Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,134,749 (GRCm39) |
Y427* |
probably null |
Het |
| Tmem74 |
G |
A |
15: 43,730,678 (GRCm39) |
Q122* |
probably null |
Het |
| Tnpo2 |
T |
A |
8: 85,765,048 (GRCm39) |
L10Q |
probably damaging |
Het |
| Trav6-2 |
G |
T |
14: 52,905,272 (GRCm39) |
A98S |
probably benign |
Het |
| Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
| Ube2b |
A |
C |
11: 51,888,654 (GRCm39) |
V39G |
possibly damaging |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,925,087 (GRCm39) |
T1459I |
probably damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,963,099 (GRCm39) |
K754R |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,275,602 (GRCm39) |
K240R |
probably damaging |
Het |
| Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGGACATGGTTAGGCTG -3'
(R):5'- CACTCTGATGCGTTGGTCTG -3'
Sequencing Primer
(F):5'- CAGGACATGGTTAGGCTGTTCCTAC -3'
(R):5'- GTTTATGTACCTGACCTCCAAAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation