Incidental Mutation 'IGL01537:Cdh19'
ID |
90007 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdh19
|
Ensembl Gene |
ENSMUSG00000047216 |
Gene Name |
cadherin 19, type 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01537
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
110816056-110905314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110847341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 423
(T423A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094626]
|
AlphaFold |
E9Q3A7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094626
AA Change: T423A
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000092210 Gene: ENSMUSG00000047216 AA Change: T423A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
CA
|
64 |
144 |
2.44e-14 |
SMART |
CA
|
168 |
252 |
3.21e-23 |
SMART |
CA
|
276 |
367 |
6.2e-7 |
SMART |
CA
|
390 |
466 |
2.69e-16 |
SMART |
CA
|
489 |
576 |
6.68e-3 |
SMART |
transmembrane domain
|
594 |
616 |
N/A |
INTRINSIC |
Pfam:Cadherin_C
|
619 |
764 |
1.7e-50 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn1l |
T |
C |
8: 110,459,312 (GRCm39) |
R317G |
probably benign |
Het |
B130006D01Rik |
T |
A |
11: 95,616,992 (GRCm39) |
|
probably benign |
Het |
Brinp2 |
T |
C |
1: 158,074,379 (GRCm39) |
T581A |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,548,540 (GRCm39) |
I1179N |
probably damaging |
Het |
Cacnb3 |
A |
G |
15: 98,541,301 (GRCm39) |
D434G |
probably damaging |
Het |
Chkb |
C |
T |
15: 89,311,986 (GRCm39) |
|
probably benign |
Het |
Cit |
T |
C |
5: 116,071,913 (GRCm39) |
Y623H |
probably benign |
Het |
Clstn3 |
G |
A |
6: 124,408,559 (GRCm39) |
R918C |
possibly damaging |
Het |
Dnah2 |
T |
A |
11: 69,406,906 (GRCm39) |
M200L |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,838,506 (GRCm39) |
H3097L |
probably benign |
Het |
Dst |
T |
A |
1: 34,314,401 (GRCm39) |
L4217H |
probably damaging |
Het |
Fam107b |
T |
A |
2: 3,779,565 (GRCm39) |
L80Q |
probably damaging |
Het |
Fgfr1 |
T |
A |
8: 26,045,595 (GRCm39) |
C55S |
probably damaging |
Het |
Igkv4-71 |
C |
A |
6: 69,220,264 (GRCm39) |
G78* |
probably null |
Het |
Igsf10 |
A |
G |
3: 59,237,452 (GRCm39) |
S910P |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,407,718 (GRCm39) |
D41G |
probably damaging |
Het |
Larp1 |
T |
A |
11: 57,933,648 (GRCm39) |
I358N |
possibly damaging |
Het |
Marchf5 |
C |
T |
19: 37,188,067 (GRCm39) |
|
probably benign |
Het |
Mpdz |
T |
C |
4: 81,287,895 (GRCm39) |
T455A |
probably damaging |
Het |
Myo1b |
A |
G |
1: 51,815,510 (GRCm39) |
V612A |
possibly damaging |
Het |
Nipbl |
T |
C |
15: 8,380,023 (GRCm39) |
D923G |
probably benign |
Het |
Nlrp4b |
T |
C |
7: 10,448,918 (GRCm39) |
F7L |
probably damaging |
Het |
Npas4 |
T |
C |
19: 5,037,355 (GRCm39) |
N313S |
possibly damaging |
Het |
Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
Or10d5 |
T |
A |
9: 39,861,921 (GRCm39) |
T49S |
probably benign |
Het |
Or13a22 |
A |
G |
7: 140,072,751 (GRCm39) |
N67D |
probably damaging |
Het |
Or4c107 |
T |
C |
2: 88,788,885 (GRCm39) |
V25A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,589,647 (GRCm39) |
V649A |
unknown |
Het |
Pom121 |
A |
G |
5: 135,421,389 (GRCm39) |
|
probably benign |
Het |
Ptcd2 |
A |
T |
13: 99,466,521 (GRCm39) |
I224N |
possibly damaging |
Het |
Rsrp1 |
C |
T |
4: 134,651,290 (GRCm39) |
P18L |
unknown |
Het |
Sash1 |
A |
T |
10: 8,605,422 (GRCm39) |
N989K |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,546,219 (GRCm39) |
H927Q |
probably benign |
Het |
Selenoi |
G |
T |
5: 30,461,222 (GRCm39) |
V128F |
probably damaging |
Het |
Slc25a42 |
T |
C |
8: 70,642,092 (GRCm39) |
I117V |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,195,558 (GRCm39) |
|
probably benign |
Het |
Sptlc3 |
A |
T |
2: 139,431,615 (GRCm39) |
Y379F |
possibly damaging |
Het |
Tent4a |
A |
T |
13: 69,648,678 (GRCm39) |
S693T |
probably benign |
Het |
Tinag |
C |
T |
9: 76,952,885 (GRCm39) |
R33K |
probably benign |
Het |
Trappc8 |
T |
C |
18: 20,968,061 (GRCm39) |
D1092G |
probably benign |
Het |
Xntrpc |
A |
G |
7: 101,722,401 (GRCm39) |
E22G |
probably damaging |
Het |
Zbtb7b |
A |
G |
3: 89,287,278 (GRCm39) |
M397T |
possibly damaging |
Het |
Zgpat |
A |
G |
2: 181,020,682 (GRCm39) |
D285G |
probably benign |
Het |
|
Other mutations in Cdh19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00772:Cdh19
|
APN |
1 |
110,876,982 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00863:Cdh19
|
APN |
1 |
110,876,874 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02108:Cdh19
|
APN |
1 |
110,817,461 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02125:Cdh19
|
APN |
1 |
110,857,614 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02234:Cdh19
|
APN |
1 |
110,859,956 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02251:Cdh19
|
APN |
1 |
110,882,382 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02275:Cdh19
|
APN |
1 |
110,853,616 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03203:Cdh19
|
APN |
1 |
110,817,828 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0539:Cdh19
|
UTSW |
1 |
110,852,892 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0594:Cdh19
|
UTSW |
1 |
110,853,597 (GRCm39) |
missense |
probably benign |
0.40 |
R0612:Cdh19
|
UTSW |
1 |
110,820,900 (GRCm39) |
splice site |
probably benign |
|
R1028:Cdh19
|
UTSW |
1 |
110,882,314 (GRCm39) |
missense |
probably benign |
0.03 |
R1627:Cdh19
|
UTSW |
1 |
110,847,375 (GRCm39) |
missense |
probably benign |
0.16 |
R1728:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1729:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1730:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1739:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1762:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1783:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1785:Cdh19
|
UTSW |
1 |
110,821,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1974:Cdh19
|
UTSW |
1 |
110,817,889 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2119:Cdh19
|
UTSW |
1 |
110,847,320 (GRCm39) |
missense |
probably benign |
0.00 |
R3026:Cdh19
|
UTSW |
1 |
110,882,418 (GRCm39) |
missense |
probably benign |
0.03 |
R3037:Cdh19
|
UTSW |
1 |
110,882,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R3612:Cdh19
|
UTSW |
1 |
110,821,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R4254:Cdh19
|
UTSW |
1 |
110,852,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R4368:Cdh19
|
UTSW |
1 |
110,817,442 (GRCm39) |
nonsense |
probably null |
|
R4624:Cdh19
|
UTSW |
1 |
110,859,981 (GRCm39) |
missense |
probably benign |
0.25 |
R4648:Cdh19
|
UTSW |
1 |
110,852,907 (GRCm39) |
missense |
probably benign |
0.04 |
R4720:Cdh19
|
UTSW |
1 |
110,823,111 (GRCm39) |
critical splice donor site |
probably null |
|
R4766:Cdh19
|
UTSW |
1 |
110,820,990 (GRCm39) |
missense |
probably benign |
0.39 |
R4937:Cdh19
|
UTSW |
1 |
110,817,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R4968:Cdh19
|
UTSW |
1 |
110,852,958 (GRCm39) |
missense |
probably benign |
0.08 |
R4970:Cdh19
|
UTSW |
1 |
110,882,354 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5095:Cdh19
|
UTSW |
1 |
110,882,391 (GRCm39) |
missense |
probably benign |
|
R5112:Cdh19
|
UTSW |
1 |
110,882,354 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5586:Cdh19
|
UTSW |
1 |
110,857,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R6431:Cdh19
|
UTSW |
1 |
110,852,787 (GRCm39) |
missense |
probably benign |
0.00 |
R6595:Cdh19
|
UTSW |
1 |
110,853,517 (GRCm39) |
missense |
probably benign |
0.15 |
R6997:Cdh19
|
UTSW |
1 |
110,882,596 (GRCm39) |
start gained |
probably benign |
|
R7240:Cdh19
|
UTSW |
1 |
110,821,137 (GRCm39) |
missense |
probably benign |
|
R8252:Cdh19
|
UTSW |
1 |
110,817,615 (GRCm39) |
missense |
probably benign |
0.00 |
R8299:Cdh19
|
UTSW |
1 |
110,847,278 (GRCm39) |
missense |
probably benign |
0.01 |
R8416:Cdh19
|
UTSW |
1 |
110,853,610 (GRCm39) |
missense |
probably benign |
0.13 |
R8766:Cdh19
|
UTSW |
1 |
110,817,844 (GRCm39) |
missense |
probably benign |
0.33 |
R9090:Cdh19
|
UTSW |
1 |
110,876,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R9177:Cdh19
|
UTSW |
1 |
110,877,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R9266:Cdh19
|
UTSW |
1 |
110,817,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R9268:Cdh19
|
UTSW |
1 |
110,877,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R9271:Cdh19
|
UTSW |
1 |
110,876,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R9533:Cdh19
|
UTSW |
1 |
110,817,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R9560:Cdh19
|
UTSW |
1 |
110,821,004 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9765:Cdh19
|
UTSW |
1 |
110,823,111 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Cdh19
|
UTSW |
1 |
110,859,944 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Cdh19
|
UTSW |
1 |
110,823,117 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cdh19
|
UTSW |
1 |
110,821,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-12-03 |