Incidental Mutation 'R4370:Cdhr18'
ID |
325966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr18
|
Ensembl Gene |
ENSMUSG00000084902 |
Gene Name |
cadherin related family member 18 |
Synonyms |
Gm281, LOC238939 |
MMRRC Submission |
041674-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R4370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
8555242-8646046 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 13862375 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 393
(S393N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000144914]
|
AlphaFold |
D3Z1Y0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000144914
AA Change: S393N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000121887 Gene: ENSMUSG00000084902 AA Change: S393N
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
T |
A |
2: 127,720,708 (GRCm39) |
D190E |
possibly damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Armc2 |
A |
T |
10: 41,793,196 (GRCm39) |
N809K |
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bmal2 |
A |
T |
6: 146,711,149 (GRCm39) |
E51V |
probably damaging |
Het |
Cage1 |
G |
A |
13: 38,209,626 (GRCm39) |
S11F |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,653,299 (GRCm39) |
I289M |
probably damaging |
Het |
Cfap100 |
A |
T |
6: 90,390,376 (GRCm39) |
I242N |
probably damaging |
Het |
Dst |
GAA |
GA |
1: 34,290,809 (GRCm39) |
|
probably null |
Het |
Epdr1 |
C |
A |
13: 19,803,576 (GRCm39) |
V53F |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,895,844 (GRCm39) |
M1574T |
probably benign |
Het |
Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krtap4-7 |
G |
A |
11: 99,534,543 (GRCm39) |
P107S |
unknown |
Het |
Lrp6 |
A |
C |
6: 134,483,321 (GRCm39) |
Y461* |
probably null |
Het |
Mecom |
T |
A |
3: 30,011,504 (GRCm39) |
E723V |
probably damaging |
Het |
Nsd3 |
T |
A |
8: 26,138,524 (GRCm39) |
I258N |
probably benign |
Het |
Or10q12 |
T |
C |
19: 13,746,315 (GRCm39) |
V203A |
probably benign |
Het |
Or5k8 |
T |
A |
16: 58,644,956 (GRCm39) |
M39L |
probably benign |
Het |
Or8k32 |
A |
T |
2: 86,368,764 (GRCm39) |
I165N |
possibly damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,318,771 (GRCm39) |
D730G |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,449,758 (GRCm39) |
R3935G |
probably damaging |
Het |
Setd5 |
A |
G |
6: 113,098,766 (GRCm39) |
K800E |
probably damaging |
Het |
Slc26a4 |
G |
T |
12: 31,579,475 (GRCm39) |
Q596K |
probably benign |
Het |
Slc38a4 |
T |
A |
15: 96,906,965 (GRCm39) |
N258Y |
possibly damaging |
Het |
Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,443,282 (GRCm39) |
S2051G |
probably null |
Het |
Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
Tgm2 |
G |
A |
2: 157,966,221 (GRCm39) |
R478* |
probably null |
Het |
Tgm6 |
T |
C |
2: 129,985,525 (GRCm39) |
Y443H |
probably benign |
Het |
Tor2a |
T |
A |
2: 32,648,870 (GRCm39) |
D113E |
probably benign |
Het |
Trio |
C |
A |
15: 27,748,423 (GRCm39) |
E1266* |
probably null |
Het |
Usp40 |
T |
C |
1: 87,925,597 (GRCm39) |
I211V |
probably benign |
Het |
Zfp791 |
C |
T |
8: 85,840,235 (GRCm39) |
V11M |
probably 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 |
R1275:Cdhr18
|
UTSW |
14 |
13,896,949 (GRCm38) |
missense |
probably damaging |
1.00 |
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 |
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'- GCAGAAGAGCCCAGAATTCTC -3'
(R):5'- CCAGGATTATCAAGGCCCATAC -3'
Sequencing Primer
(F):5'- GAAGAGCCCAGAATTCTCCTCTACTC -3'
(R):5'- GGATTATCAAGGCCCATACATAGAC -3'
|
Posted On |
2015-07-06 |