Incidental Mutation 'R8998:Krt18'
| ID |
684834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt18
|
| Ensembl Gene |
ENSMUSG00000023043 |
| Gene Name |
keratin 18 |
| Synonyms |
Endo B, K18, CK18, Krt1-18 |
| MMRRC Submission |
068829-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101936651-101940461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 101939874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 357
(E357D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023803]
|
| AlphaFold |
P05784 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023803
AA Change: E357D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: E357D
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
T |
C |
11: 71,921,083 (GRCm39) |
E245G |
possibly damaging |
Het |
| Cd6 |
A |
T |
19: 10,776,642 (GRCm39) |
C128S |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,666,165 (GRCm39) |
D98G |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,818,137 (GRCm39) |
K525E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,140,534 (GRCm39) |
E289G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,018,235 (GRCm39) |
T1428A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,666,684 (GRCm39) |
L631P |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,461,271 (GRCm39) |
C187S |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,640,477 (GRCm39) |
M1072L |
probably benign |
Het |
| Fap |
T |
C |
2: 62,367,368 (GRCm39) |
H338R |
probably benign |
Het |
| Gabrg1 |
T |
A |
5: 70,973,378 (GRCm39) |
I59F |
probably benign |
Het |
| Glb1l3 |
A |
T |
9: 26,764,914 (GRCm39) |
|
probably null |
Het |
| Igkv8-26 |
C |
A |
6: 70,170,514 (GRCm39) |
A35E |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,635,013 (GRCm39) |
|
probably benign |
Het |
| Lbr |
C |
T |
1: 181,646,512 (GRCm39) |
G470E |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,452,473 (GRCm39) |
K454N |
possibly damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,817 (GRCm39) |
V282A |
|
Het |
| Men1 |
G |
A |
19: 6,389,960 (GRCm39) |
V538I |
probably benign |
Het |
| Mfn1 |
T |
A |
3: 32,623,683 (GRCm39) |
M621K |
possibly damaging |
Het |
| Mpdz |
C |
A |
4: 81,202,882 (GRCm39) |
G1838* |
probably null |
Het |
| Msantd5f9 |
G |
C |
4: 73,837,420 (GRCm39) |
N99K |
probably damaging |
Het |
| Mypn |
A |
T |
10: 62,998,050 (GRCm39) |
L420* |
probably null |
Het |
| Nkx6-1 |
T |
C |
5: 101,812,082 (GRCm39) |
M7V |
unknown |
Het |
| Notum |
G |
A |
11: 120,545,207 (GRCm39) |
H451Y |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,211,574 (GRCm39) |
V767L |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,728,999 (GRCm39) |
I292N |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,988 (GRCm39) |
K297E |
probably damaging |
Het |
| Or6c3 |
A |
G |
10: 129,309,386 (GRCm39) |
N275S |
probably benign |
Het |
| Pabpc4l |
A |
C |
3: 46,400,783 (GRCm39) |
I287S |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,073,428 (GRCm39) |
T353M |
possibly damaging |
Het |
| Plekha1 |
T |
C |
7: 130,510,199 (GRCm39) |
I315T |
unknown |
Het |
| Ppp2r2b |
C |
T |
18: 42,870,993 (GRCm39) |
A106T |
probably benign |
Het |
| Prkch |
T |
C |
12: 73,742,973 (GRCm39) |
V209A |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,028,930 (GRCm39) |
C284R |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,671 (GRCm39) |
V804A |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,684,360 (GRCm39) |
R1130* |
probably null |
Het |
| Serpina6 |
C |
G |
12: 103,617,988 (GRCm39) |
R275P |
probably damaging |
Het |
| Six3 |
T |
A |
17: 85,931,164 (GRCm39) |
H273Q |
probably benign |
Het |
| Stk35 |
C |
A |
2: 129,652,509 (GRCm39) |
P337T |
probably damaging |
Het |
| Supt5 |
A |
G |
7: 28,037,848 (GRCm39) |
S2P |
unknown |
Het |
| Tnik |
A |
G |
3: 28,719,920 (GRCm39) |
Y1264C |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,838,960 (GRCm39) |
T621A |
unknown |
Het |
| Tyrp1 |
T |
C |
4: 80,763,094 (GRCm39) |
L327P |
probably damaging |
Het |
| Vmn2r69 |
A |
C |
7: 85,060,307 (GRCm39) |
S426A |
probably benign |
Het |
|
| Other mutations in Krt18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02656:Krt18
|
APN |
15 |
101,939,357 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGCATCAAGACCCTTTC -3'
(R):5'- CTGGTGAGTGGTTACCAACAAAC -3'
Sequencing Primer
(F):5'- CCCTTTCAAAGAAGGGTTGAGC -3'
(R):5'- GTGGTTACCAACAAACAGACCTTGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation