Incidental Mutation 'IGL01605:Cdh17'
| ID |
278734 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdh17
|
| Ensembl Gene |
ENSMUSG00000028217 |
| Gene Name |
cadherin 17 |
| Synonyms |
BILL-cadherin, HPT-1, LI-cadherin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
IGL01605
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
11758157-11817905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11795670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 417
(Y417H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029871]
[ENSMUST00000108303]
|
| AlphaFold |
Q9R100 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029871
AA Change: Y417H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: Y417H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CA
|
44 |
123 |
5.27e-10 |
SMART |
|
CA
|
147 |
241 |
6.9e-14 |
SMART |
|
CA
|
258 |
337 |
3.05e-15 |
SMART |
|
CA
|
361 |
446 |
3.29e-11 |
SMART |
|
CA
|
471 |
564 |
5.27e-10 |
SMART |
|
CA
|
587 |
664 |
5.59e-23 |
SMART |
|
Blast:CA
|
687 |
771 |
5e-39 |
BLAST |
|
transmembrane domain
|
784 |
806 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108303
AA Change: Y417H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: Y417H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CA
|
44 |
123 |
5.27e-10 |
SMART |
|
CA
|
147 |
241 |
6.9e-14 |
SMART |
|
CA
|
258 |
337 |
3.05e-15 |
SMART |
|
CA
|
361 |
446 |
3.29e-11 |
SMART |
|
CA
|
471 |
564 |
5.27e-10 |
SMART |
|
CA
|
587 |
664 |
5.59e-23 |
SMART |
|
| 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 a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brip1 |
T |
A |
11: 85,952,830 (GRCm39) |
T984S |
possibly damaging |
Het |
| Chd7 |
T |
A |
4: 8,833,834 (GRCm39) |
I1196N |
probably damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,323,854 (GRCm39) |
F447S |
probably damaging |
Het |
| Dock8 |
C |
T |
19: 25,067,252 (GRCm39) |
|
probably benign |
Het |
| Eif1ad5 |
A |
T |
12: 87,940,530 (GRCm39) |
|
noncoding transcript |
Het |
| Fam163b |
A |
G |
2: 27,002,688 (GRCm39) |
F103S |
probably damaging |
Het |
| G0s2 |
A |
G |
1: 192,954,964 (GRCm39) |
L40P |
probably damaging |
Het |
| Gucy1b1 |
C |
T |
3: 81,942,660 (GRCm39) |
R494Q |
probably benign |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,755 (GRCm39) |
V89A |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,837,348 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,148,192 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
| Mnx1 |
T |
C |
5: 29,682,591 (GRCm39) |
D228G |
unknown |
Het |
| Msh2 |
T |
C |
17: 88,003,917 (GRCm39) |
|
probably benign |
Het |
| Pabpc1 |
A |
G |
15: 36,599,550 (GRCm39) |
Y382H |
probably benign |
Het |
| Prl7b1 |
A |
G |
13: 27,786,027 (GRCm39) |
S214P |
possibly damaging |
Het |
| Ptk2 |
C |
T |
15: 73,136,188 (GRCm39) |
|
probably benign |
Het |
| Rbpj-ps3 |
T |
C |
6: 46,507,025 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,433,531 (GRCm39) |
M162K |
possibly damaging |
Het |
| Skint2 |
A |
G |
4: 112,483,191 (GRCm39) |
T199A |
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,035,322 (GRCm39) |
D100G |
possibly damaging |
Het |
| Taar5 |
C |
T |
10: 23,846,962 (GRCm39) |
T120I |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,623,848 (GRCm39) |
V352A |
probably benign |
Het |
| Ubap2 |
T |
A |
4: 41,227,237 (GRCm39) |
D160V |
probably damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,510,106 (GRCm39) |
V89A |
possibly damaging |
Het |
| Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
possibly damaging |
Het |
|
| Other mutations in Cdh17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Cdh17
|
APN |
4 |
11,797,780 (GRCm39) |
splice site |
probably benign |
|
|
IGL00823:Cdh17
|
APN |
4 |
11,783,412 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00824:Cdh17
|
APN |
4 |
11,784,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01572:Cdh17
|
APN |
4 |
11,784,621 (GRCm39) |
splice site |
probably benign |
|
|
IGL01602:Cdh17
|
APN |
4 |
11,795,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Cdh17
|
APN |
4 |
11,771,262 (GRCm39) |
splice site |
probably benign |
|
|
IGL02065:Cdh17
|
APN |
4 |
11,771,373 (GRCm39) |
splice site |
probably benign |
|
|
IGL02448:Cdh17
|
APN |
4 |
11,784,680 (GRCm39) |
missense |
probably benign |
|
|
IGL02869:Cdh17
|
APN |
4 |
11,814,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03088:Cdh17
|
APN |
4 |
11,810,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Disruptive
|
UTSW |
4 |
11,784,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Cdh17
|
UTSW |
4 |
11,795,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0054:Cdh17
|
UTSW |
4 |
11,785,186 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0081:Cdh17
|
UTSW |
4 |
11,785,280 (GRCm39) |
splice site |
probably benign |
|
|
R0101:Cdh17
|
UTSW |
4 |
11,771,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0432:Cdh17
|
UTSW |
4 |
11,771,273 (GRCm39) |
nonsense |
probably null |
|
|
R0718:Cdh17
|
UTSW |
4 |
11,810,451 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0946:Cdh17
|
UTSW |
4 |
11,795,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1076:Cdh17
|
UTSW |
4 |
11,795,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1217:Cdh17
|
UTSW |
4 |
11,799,676 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2060:Cdh17
|
UTSW |
4 |
11,803,982 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3808:Cdh17
|
UTSW |
4 |
11,795,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3850:Cdh17
|
UTSW |
4 |
11,785,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4111:Cdh17
|
UTSW |
4 |
11,814,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4112:Cdh17
|
UTSW |
4 |
11,814,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Cdh17
|
UTSW |
4 |
11,810,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4683:Cdh17
|
UTSW |
4 |
11,817,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4797:Cdh17
|
UTSW |
4 |
11,810,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5050:Cdh17
|
UTSW |
4 |
11,784,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Cdh17
|
UTSW |
4 |
11,810,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5569:Cdh17
|
UTSW |
4 |
11,816,990 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5790:Cdh17
|
UTSW |
4 |
11,814,945 (GRCm39) |
splice site |
probably null |
|
|
R6077:Cdh17
|
UTSW |
4 |
11,803,969 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6581:Cdh17
|
UTSW |
4 |
11,799,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Cdh17
|
UTSW |
4 |
11,783,174 (GRCm39) |
nonsense |
probably null |
|
|
R7647:Cdh17
|
UTSW |
4 |
11,814,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Cdh17
|
UTSW |
4 |
11,814,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Cdh17
|
UTSW |
4 |
11,799,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8290:Cdh17
|
UTSW |
4 |
11,817,037 (GRCm39) |
missense |
probably benign |
|
|
R8301:Cdh17
|
UTSW |
4 |
11,795,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8690:Cdh17
|
UTSW |
4 |
11,783,163 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8709:Cdh17
|
UTSW |
4 |
11,795,685 (GRCm39) |
nonsense |
probably null |
|
|
R8818:Cdh17
|
UTSW |
4 |
11,771,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Cdh17
|
UTSW |
4 |
11,783,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9243:Cdh17
|
UTSW |
4 |
11,771,333 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9325:Cdh17
|
UTSW |
4 |
11,810,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9457:Cdh17
|
UTSW |
4 |
11,771,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0067:Cdh17
|
UTSW |
4 |
11,785,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation