Incidental Mutation 'R3757:Cdh24'
ID |
271495 |
Institutional Source |
Beutler Lab
|
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 # |
R3757 (G1)
|
Quality Score |
107 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
54868688-54878821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54869637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 760
(D760G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067784]
[ENSMUST00000097177]
[ENSMUST00000227124]
|
AlphaFold |
Q6PFX6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067784
AA Change: D760G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066005 Gene: ENSMUSG00000059674 AA Change: D760G
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 |
probably benign
Transcript: ENSMUST00000227124
|
Meta Mutation Damage Score |
0.1465 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
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 |
IGL02597:Cdh24
|
APN |
14 |
54,870,972 (GRCm39) |
missense |
possibly damaging |
0.55 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGGAGGGTCATATTGGGCC -3'
(R):5'- CCTTCGACATCACAGCCTTG -3'
Sequencing Primer
(F):5'- TCATATTGGGCCCCTGGG -3'
(R):5'- CTTGCAGAACCCGGATGGAG -3'
|
Posted On |
2015-03-18 |