Incidental Mutation 'IGL01590:Krt28'
| ID |
91578 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt28
|
| Ensembl Gene |
ENSMUSG00000055937 |
| Gene Name |
keratin 28 |
| Synonyms |
4733401L19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99255698-99265729 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 99265220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006963]
|
| AlphaFold |
A6BLY7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006963
|
| SMART Domains |
Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
|
Filament
|
83 |
398 |
4.6e-144 |
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 encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,482,590 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
G |
4: 129,907,606 (GRCm39) |
|
probably benign |
Het |
| Apcs |
C |
T |
1: 172,722,034 (GRCm39) |
G104D |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,834,237 (GRCm39) |
Q2054L |
possibly damaging |
Het |
| Dennd6a |
T |
G |
14: 26,340,507 (GRCm39) |
V207G |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,045,611 (GRCm39) |
D688Y |
possibly damaging |
Het |
| Fam83a |
C |
A |
15: 57,873,173 (GRCm39) |
S334Y |
probably damaging |
Het |
| Fam83e |
T |
A |
7: 45,373,360 (GRCm39) |
F242Y |
probably null |
Het |
| Fnip1 |
A |
T |
11: 54,384,126 (GRCm39) |
D341V |
probably damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,308,028 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,272,640 (GRCm39) |
V558F |
probably damaging |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,641 (GRCm39) |
N112D |
probably benign |
Het |
| Hs6st1 |
A |
T |
1: 36,142,785 (GRCm39) |
D240V |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,266,031 (GRCm39) |
|
probably null |
Het |
| Itga8 |
G |
T |
2: 12,165,144 (GRCm39) |
H822N |
probably damaging |
Het |
| Kif20b |
T |
A |
19: 34,932,126 (GRCm39) |
N1263K |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,352,630 (GRCm39) |
M706L |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,004 (GRCm39) |
M136L |
probably benign |
Het |
| Or52h9 |
A |
C |
7: 104,202,782 (GRCm39) |
I219L |
probably benign |
Het |
| Prox2 |
A |
G |
12: 85,134,845 (GRCm39) |
W479R |
probably damaging |
Het |
| Rps19 |
A |
T |
7: 24,587,881 (GRCm39) |
D152V |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,051,146 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
C |
T |
8: 41,367,137 (GRCm39) |
P564S |
probably damaging |
Het |
| Slco1a5 |
C |
A |
6: 142,196,045 (GRCm39) |
M319I |
probably benign |
Het |
| Spmip2 |
A |
C |
3: 79,356,647 (GRCm39) |
N150T |
probably damaging |
Het |
| Spopfm3 |
G |
A |
3: 94,105,674 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,615,817 (GRCm39) |
T275A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,681,837 (GRCm39) |
S2598P |
probably damaging |
Het |
| Tiparp |
G |
A |
3: 65,439,397 (GRCm39) |
E56K |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,636,471 (GRCm39) |
R489C |
probably damaging |
Het |
| Vmn2r84 |
C |
A |
10: 130,221,964 (GRCm39) |
G752V |
probably damaging |
Het |
| Wnt5b |
T |
A |
6: 119,417,515 (GRCm39) |
T130S |
possibly damaging |
Het |
|
| Other mutations in Krt28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Krt28
|
APN |
11 |
99,262,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01568:Krt28
|
APN |
11 |
99,262,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1250:Krt28
|
UTSW |
11 |
99,257,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1488:Krt28
|
UTSW |
11 |
99,255,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2116:Krt28
|
UTSW |
11 |
99,255,943 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4244:Krt28
|
UTSW |
11 |
99,265,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4862:Krt28
|
UTSW |
11 |
99,255,936 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4928:Krt28
|
UTSW |
11 |
99,265,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5035:Krt28
|
UTSW |
11 |
99,257,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5568:Krt28
|
UTSW |
11 |
99,262,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Krt28
|
UTSW |
11 |
99,265,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Krt28
|
UTSW |
11 |
99,257,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Krt28
|
UTSW |
11 |
99,262,027 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6548:Krt28
|
UTSW |
11 |
99,257,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Krt28
|
UTSW |
11 |
99,265,230 (GRCm39) |
nonsense |
probably null |
|
|
R7863:Krt28
|
UTSW |
11 |
99,255,999 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7986:Krt28
|
UTSW |
11 |
99,257,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8415:Krt28
|
UTSW |
11 |
99,265,626 (GRCm39) |
missense |
probably benign |
|
|
R9710:Krt28
|
UTSW |
11 |
99,255,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation