Incidental Mutation 'R1275:Cdhr18'
ID |
150873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr18
|
Ensembl Gene |
ENSMUSG00000084902 |
Gene Name |
cadherin related family member 18 |
Synonyms |
Gm281, LOC238939 |
MMRRC Submission |
039341-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R1275 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
8555242-8646046 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13896949 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 142
(Y142C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000144914]
|
AlphaFold |
D3Z1Y0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144914
AA Change: Y142C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121887 Gene: ENSMUSG00000084902 AA Change: Y142C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
CA
|
32 |
127 |
3.45e-2 |
SMART |
CA
|
156 |
230 |
7.87e-9 |
SMART |
CA
|
274 |
352 |
1.36e-3 |
SMART |
CA
|
376 |
470 |
6.99e-3 |
SMART |
CA
|
492 |
563 |
8.69e-11 |
SMART |
CA
|
589 |
683 |
2.09e-1 |
SMART |
transmembrane domain
|
705 |
727 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clstn2 |
C |
T |
9: 97,339,483 (GRCm39) |
V793I |
probably benign |
Het |
Coro1a |
C |
T |
7: 126,299,755 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Efcab14 |
T |
G |
4: 115,613,670 (GRCm39) |
L206R |
probably damaging |
Het |
Ehmt1 |
A |
G |
2: 24,777,007 (GRCm39) |
|
probably null |
Het |
Fosl2 |
C |
T |
5: 32,307,798 (GRCm39) |
R130W |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,314 (GRCm39) |
C233R |
probably damaging |
Het |
Ino80 |
T |
C |
2: 119,257,536 (GRCm39) |
T765A |
probably benign |
Het |
Mindy3 |
A |
T |
2: 12,400,984 (GRCm39) |
|
probably null |
Het |
Myo15b |
CGGAGGAGGAGGAGGAGGAG |
CGGAGGAGGAGGAGGAG |
11: 115,774,318 (GRCm39) |
|
probably benign |
Het |
Nup50l |
T |
C |
6: 96,142,099 (GRCm39) |
E315G |
probably benign |
Het |
Osbpl11 |
T |
A |
16: 33,006,220 (GRCm39) |
M16K |
probably benign |
Het |
Rassf7 |
T |
A |
7: 140,797,060 (GRCm39) |
L91Q |
probably damaging |
Het |
Shld1 |
T |
C |
2: 132,534,015 (GRCm39) |
S48P |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,235,366 (GRCm39) |
K3318R |
probably damaging |
Het |
Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
Zfp930 |
A |
G |
8: 69,680,631 (GRCm39) |
K108E |
possibly damaging |
Het |
|
Other mutations in Cdhr18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0115:Cdhr18
|
UTSW |
14 |
13,899,571 (GRCm38) |
missense |
probably damaging |
0.99 |
R0842:Cdhr18
|
UTSW |
14 |
13,856,686 (GRCm38) |
missense |
probably benign |
0.16 |
R1252:Cdhr18
|
UTSW |
14 |
13,862,444 (GRCm38) |
missense |
probably benign |
0.00 |
R1631:Cdhr18
|
UTSW |
14 |
13,829,796 (GRCm38) |
missense |
probably damaging |
0.99 |
R1831:Cdhr18
|
UTSW |
14 |
13,899,619 (GRCm38) |
missense |
probably damaging |
1.00 |
R1885:Cdhr18
|
UTSW |
14 |
13,828,607 (GRCm38) |
missense |
probably damaging |
1.00 |
R1886:Cdhr18
|
UTSW |
14 |
13,828,607 (GRCm38) |
missense |
probably damaging |
1.00 |
R1887:Cdhr18
|
UTSW |
14 |
13,828,607 (GRCm38) |
missense |
probably damaging |
1.00 |
R1903:Cdhr18
|
UTSW |
14 |
13,829,657 (GRCm38) |
missense |
possibly damaging |
0.94 |
R1940:Cdhr18
|
UTSW |
14 |
13,828,582 (GRCm38) |
missense |
probably null |
0.95 |
R2324:Cdhr18
|
UTSW |
14 |
13,868,077 (GRCm38) |
missense |
probably damaging |
1.00 |
R3923:Cdhr18
|
UTSW |
14 |
13,865,990 (GRCm38) |
nonsense |
probably null |
|
R4193:Cdhr18
|
UTSW |
14 |
13,914,416 (GRCm38) |
missense |
probably benign |
0.02 |
R4195:Cdhr18
|
UTSW |
14 |
13,829,772 (GRCm38) |
missense |
probably benign |
0.05 |
R4370:Cdhr18
|
UTSW |
14 |
13,862,375 (GRCm38) |
missense |
probably benign |
0.03 |
R4675:Cdhr18
|
UTSW |
14 |
13,856,724 (GRCm38) |
missense |
probably benign |
0.32 |
R4734:Cdhr18
|
UTSW |
14 |
13,845,292 (GRCm38) |
missense |
probably benign |
0.13 |
R5387:Cdhr18
|
UTSW |
14 |
13,914,438 (GRCm38) |
start codon destroyed |
probably null |
0.82 |
R6037:Cdhr18
|
UTSW |
14 |
13,864,282 (GRCm38) |
missense |
probably damaging |
1.00 |
R6037:Cdhr18
|
UTSW |
14 |
13,864,282 (GRCm38) |
missense |
probably damaging |
1.00 |
R6177:Cdhr18
|
UTSW |
14 |
13,868,002 (GRCm38) |
missense |
probably benign |
0.08 |
R7051:Cdhr18
|
UTSW |
14 |
13,828,486 (GRCm38) |
missense |
|
|
R7205:Cdhr18
|
UTSW |
14 |
13,866,032 (GRCm38) |
missense |
|
|
R7258:Cdhr18
|
UTSW |
14 |
13,899,648 (GRCm38) |
missense |
|
|
R7833:Cdhr18
|
UTSW |
14 |
13,896,968 (GRCm38) |
splice site |
probably null |
|
R8309:Cdhr18
|
UTSW |
14 |
13,814,954 (GRCm38) |
nonsense |
probably null |
|
R8911:Cdhr18
|
UTSW |
14 |
13,823,796 (GRCm38) |
critical splice acceptor site |
probably null |
|
R9124:Cdhr18
|
UTSW |
14 |
13,864,354 (GRCm38) |
missense |
|
|
R9458:Cdhr18
|
UTSW |
14 |
13,856,709 (GRCm38) |
missense |
|
|
R9594:Cdhr18
|
UTSW |
14 |
13,814,959 (GRCm38) |
missense |
unknown |
|
Z1177:Cdhr18
|
UTSW |
14 |
13,845,421 (GRCm38) |
missense |
|
|
Z1177:Cdhr18
|
UTSW |
14 |
13,823,754 (GRCm38) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGCCCTTTGATTCCAAGTCCC -3'
(R):5'- CGCTACTACTAGCTTCCCTGAAATCAC -3'
Sequencing Primer
(F):5'- TGTCTGCCTACACAGAAGTG -3'
(R):5'- CACTGTACAAAGCATCTGTACTGAG -3'
|
Posted On |
2014-01-29 |