Incidental Mutation 'IGL02597:Cdh24'
| ID |
299898 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdh24
|
| Ensembl Gene |
ENSMUSG00000059674 |
| Gene Name |
cadherin-like 24 |
| Synonyms |
EY-cadherin, ENSMUSG00000022188, cadherin 14-like, 1700040A22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
IGL02597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
54868688-54878821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54870972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 132
(V132A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067784]
[ENSMUST00000097177]
[ENSMUST00000227124]
|
| AlphaFold |
Q6PFX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067784
AA Change: V514A
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674
AA Change: V514A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
67 |
148 |
7.85e-18 |
SMART |
|
CA
|
172 |
257 |
3.23e-28 |
SMART |
|
CA
|
281 |
369 |
4.24e-14 |
SMART |
|
CA
|
396 |
477 |
1.48e-22 |
SMART |
|
Blast:CA
|
500 |
581 |
3e-31 |
BLAST |
|
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
627 |
775 |
2e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097177
|
| SMART Domains |
Protein: ENSMUSP00000132140
Gene: ENSMUSG00000072423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
46 |
228 |
3.9e-41 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227124
AA Change: V132A
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,469,665 (GRCm39) |
Y862C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,851 (GRCm39) |
K1648E |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Atp7a |
A |
T |
X: 105,113,494 (GRCm39) |
N34I |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,033,953 (GRCm39) |
Y232C |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,555,720 (GRCm39) |
N738K |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,456,169 (GRCm39) |
T946K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,156,965 (GRCm39) |
|
probably benign |
Het |
| Copz2 |
T |
C |
11: 96,748,425 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
C |
A |
19: 39,549,331 (GRCm39) |
S283* |
probably null |
Het |
| Dlec1 |
A |
T |
9: 118,963,604 (GRCm39) |
S973C |
probably damaging |
Het |
| Far1 |
A |
T |
7: 113,150,463 (GRCm39) |
T264S |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,373,633 (GRCm39) |
L1452P |
probably damaging |
Het |
| Irx5 |
A |
C |
8: 93,087,400 (GRCm39) |
N444T |
possibly damaging |
Het |
| Kcnip2 |
A |
G |
19: 45,784,712 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,761,712 (GRCm39) |
M546K |
unknown |
Het |
| Lrrc37a |
A |
G |
11: 103,395,113 (GRCm39) |
L104S |
probably benign |
Het |
| Med12 |
T |
C |
X: 100,328,538 (GRCm39) |
L1143P |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,645,016 (GRCm39) |
H1477R |
probably benign |
Het |
| Nkap |
T |
A |
X: 36,411,437 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,656 (GRCm39) |
V109A |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,646 (GRCm39) |
T204S |
possibly damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,386,318 (GRCm39) |
Q214* |
probably null |
Het |
| Pex1 |
C |
T |
5: 3,685,865 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,625 (GRCm39) |
N1066I |
probably damaging |
Het |
| Psmg1 |
T |
C |
16: 95,788,497 (GRCm39) |
E152G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,439,189 (GRCm39) |
I1560T |
probably damaging |
Het |
| Shd |
A |
G |
17: 56,280,987 (GRCm39) |
E221G |
possibly damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,497,824 (GRCm39) |
T478A |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmem161a |
A |
T |
8: 70,634,693 (GRCm39) |
R297S |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 74,025,032 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
G |
A |
5: 87,228,783 (GRCm39) |
T420M |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,812,818 (GRCm39) |
R1652* |
probably null |
Het |
| Zap70 |
T |
A |
1: 36,811,001 (GRCm39) |
Y178* |
probably null |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,456 (GRCm39) |
F60L |
probably damaging |
Het |
|
| Other mutations in Cdh24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Cdh24
|
APN |
14 |
54,875,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0088:Cdh24
|
UTSW |
14 |
54,871,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Cdh24
|
UTSW |
14 |
54,870,054 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0890:Cdh24
|
UTSW |
14 |
54,870,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1525:Cdh24
|
UTSW |
14 |
54,876,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Cdh24
|
UTSW |
14 |
54,873,799 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1727:Cdh24
|
UTSW |
14 |
54,876,095 (GRCm39) |
nonsense |
probably null |
|
|
R3757:Cdh24
|
UTSW |
14 |
54,869,637 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4786:Cdh24
|
UTSW |
14 |
54,875,007 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4921:Cdh24
|
UTSW |
14 |
54,870,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4929:Cdh24
|
UTSW |
14 |
54,870,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5116:Cdh24
|
UTSW |
14 |
54,873,870 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5589:Cdh24
|
UTSW |
14 |
54,874,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Cdh24
|
UTSW |
14 |
54,874,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Cdh24
|
UTSW |
14 |
54,876,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6305:Cdh24
|
UTSW |
14 |
54,869,813 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7090:Cdh24
|
UTSW |
14 |
54,876,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Cdh24
|
UTSW |
14 |
54,870,949 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7361:Cdh24
|
UTSW |
14 |
54,876,378 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7488:Cdh24
|
UTSW |
14 |
54,869,637 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7623:Cdh24
|
UTSW |
14 |
54,875,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Cdh24
|
UTSW |
14 |
54,874,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Cdh24
|
UTSW |
14 |
54,876,477 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8017:Cdh24
|
UTSW |
14 |
54,876,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Cdh24
|
UTSW |
14 |
54,876,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Cdh24
|
UTSW |
14 |
54,876,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Cdh24
|
UTSW |
14 |
54,870,030 (GRCm39) |
missense |
probably benign |
|
|
R8160:Cdh24
|
UTSW |
14 |
54,875,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8692:Cdh24
|
UTSW |
14 |
54,875,793 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8862:Cdh24
|
UTSW |
14 |
54,869,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Cdh24
|
UTSW |
14 |
54,876,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Cdh24
|
UTSW |
14 |
54,876,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Cdh24
|
UTSW |
14 |
54,878,679 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation