Incidental Mutation 'IGL02656:Krt18'
| ID |
302348 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt18
|
| Ensembl Gene |
ENSMUSG00000023043 |
| Gene Name |
keratin 18 |
| Synonyms |
Endo B, K18, CK18, Krt1-18 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101936651-101940461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101939357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 277
(T277A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023803]
|
| AlphaFold |
P05784 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023803
AA Change: T277A
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: T277A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
68 |
N/A |
INTRINSIC |
|
Filament
|
71 |
384 |
3.69e-166 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable, fertile, and live normal life spans. They do, however, develop hepatomegaly by 18 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
G |
T |
14: 31,424,197 (GRCm39) |
A981D |
possibly damaging |
Het |
| Ccdc69 |
G |
T |
11: 54,943,263 (GRCm39) |
Q114K |
possibly damaging |
Het |
| Cct5 |
A |
T |
15: 31,597,576 (GRCm39) |
D66E |
probably damaging |
Het |
| Ces2e |
G |
T |
8: 105,653,688 (GRCm39) |
R42I |
possibly damaging |
Het |
| Cib2 |
T |
G |
9: 54,453,182 (GRCm39) |
D178A |
probably damaging |
Het |
| Cldn7 |
G |
A |
11: 69,857,834 (GRCm39) |
V97I |
probably benign |
Het |
| Dok3 |
A |
T |
13: 55,676,293 (GRCm39) |
I12N |
probably damaging |
Het |
| Fndc5 |
T |
A |
4: 129,033,239 (GRCm39) |
V102E |
probably damaging |
Het |
| Gas2 |
T |
C |
7: 51,593,492 (GRCm39) |
S191P |
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,588,821 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,427 (GRCm39) |
S365P |
probably benign |
Het |
| Msmo1 |
T |
C |
8: 65,180,906 (GRCm39) |
T3A |
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,865 (GRCm39) |
F111S |
probably damaging |
Het |
| Or4e2 |
G |
T |
14: 52,688,166 (GRCm39) |
A99S |
possibly damaging |
Het |
| Or8g18 |
T |
A |
9: 39,149,456 (GRCm39) |
E88V |
probably benign |
Het |
| Pex19 |
C |
A |
1: 171,958,252 (GRCm39) |
A77E |
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,501,676 (GRCm39) |
D620G |
probably damaging |
Het |
| Prr5 |
A |
G |
15: 84,583,337 (GRCm39) |
D105G |
probably damaging |
Het |
| Rab12 |
T |
A |
17: 66,813,049 (GRCm39) |
K88M |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,806,401 (GRCm39) |
V673A |
probably damaging |
Het |
| Rps26 |
A |
G |
10: 128,461,126 (GRCm39) |
S88P |
possibly damaging |
Het |
| Sema5a |
T |
A |
15: 32,631,431 (GRCm39) |
S605T |
possibly damaging |
Het |
| Slc35a4 |
T |
C |
18: 36,815,500 (GRCm39) |
M110T |
probably damaging |
Het |
| Sowahb |
T |
C |
5: 93,191,106 (GRCm39) |
S538G |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,297,938 (GRCm39) |
|
probably benign |
Het |
| Ssbp2 |
G |
A |
13: 91,817,871 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
C |
T |
3: 54,615,816 (GRCm39) |
R236W |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,534,640 (GRCm39) |
D1791G |
probably damaging |
Het |
| Tgm6 |
G |
A |
2: 129,987,023 (GRCm39) |
G497D |
probably damaging |
Het |
| Trim12c |
C |
T |
7: 103,990,410 (GRCm39) |
V356I |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,641,716 (GRCm39) |
I814K |
probably benign |
Het |
|
| Other mutations in Krt18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02666:Krt18
|
APN |
15 |
101,938,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Krt18
|
UTSW |
15 |
101,938,358 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0077:Krt18
|
UTSW |
15 |
101,939,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0650:Krt18
|
UTSW |
15 |
101,937,920 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0651:Krt18
|
UTSW |
15 |
101,937,920 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0947:Krt18
|
UTSW |
15 |
101,939,163 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1015:Krt18
|
UTSW |
15 |
101,939,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1219:Krt18
|
UTSW |
15 |
101,939,723 (GRCm39) |
splice site |
probably benign |
|
|
R1328:Krt18
|
UTSW |
15 |
101,939,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2051:Krt18
|
UTSW |
15 |
101,937,935 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2082:Krt18
|
UTSW |
15 |
101,939,455 (GRCm39) |
splice site |
probably null |
|
|
R3735:Krt18
|
UTSW |
15 |
101,936,936 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4696:Krt18
|
UTSW |
15 |
101,940,293 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5211:Krt18
|
UTSW |
15 |
101,939,888 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5320:Krt18
|
UTSW |
15 |
101,936,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5805:Krt18
|
UTSW |
15 |
101,939,735 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6736:Krt18
|
UTSW |
15 |
101,939,204 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7221:Krt18
|
UTSW |
15 |
101,937,967 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7543:Krt18
|
UTSW |
15 |
101,939,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Krt18
|
UTSW |
15 |
101,939,391 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7883:Krt18
|
UTSW |
15 |
101,936,885 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8837:Krt18
|
UTSW |
15 |
101,938,265 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8988:Krt18
|
UTSW |
15 |
101,937,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Krt18
|
UTSW |
15 |
101,939,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8999:Krt18
|
UTSW |
15 |
101,939,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0064:Krt18
|
UTSW |
15 |
101,938,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation