Incidental Mutation 'IGL03225:Krt20'
ID |
413774 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt20
|
Ensembl Gene |
ENSMUSG00000035775 |
Gene Name |
keratin 20 |
Synonyms |
CK20, 9030623C06Rik, cytokeratin 20 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL03225
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99319229-99328976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99322756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 293
(V293A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017743]
|
AlphaFold |
Q9D312 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017743
AA Change: V293A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000017743 Gene: ENSMUSG00000035775 AA Change: V293A
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
Filament
|
76 |
387 |
7.19e-146 |
SMART |
low complexity region
|
410 |
431 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the keratin protein family and is found within a cluster of cytokeratin genes on chromosome 11. Keratins are cytoskeletal proteins that are preferentially expressed in epithelial cells. The encoded protein may help maintain intermediate filament organization in intestinal epithelium. Phosphorylation of this protein may also influence mucin secretion in the small intestine. [provided by RefSeq, Dec 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
A |
G |
7: 50,249,668 (GRCm39) |
K234R |
probably benign |
Het |
Adam21 |
T |
C |
12: 81,606,043 (GRCm39) |
E573G |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,286,386 (GRCm39) |
I673F |
possibly damaging |
Het |
Arfgef1 |
A |
T |
1: 10,224,543 (GRCm39) |
I1431N |
probably damaging |
Het |
Cask |
A |
G |
X: 13,531,760 (GRCm39) |
M103V |
possibly damaging |
Het |
Clba1 |
T |
C |
12: 112,779,211 (GRCm39) |
Y283H |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,875,150 (GRCm39) |
E729G |
probably damaging |
Het |
Gnb4 |
T |
C |
3: 32,641,881 (GRCm39) |
T249A |
probably damaging |
Het |
Gpr12 |
A |
G |
5: 146,520,761 (GRCm39) |
S54P |
probably damaging |
Het |
Lonrf1 |
A |
G |
8: 36,689,855 (GRCm39) |
V706A |
probably damaging |
Het |
Lrrc58 |
T |
G |
16: 37,701,632 (GRCm39) |
C303W |
probably damaging |
Het |
Mbnl2 |
A |
G |
14: 120,622,875 (GRCm39) |
T138A |
probably benign |
Het |
Mss51 |
G |
A |
14: 20,537,205 (GRCm39) |
R88* |
probably null |
Het |
Nup214 |
T |
A |
2: 31,924,423 (GRCm39) |
S146T |
probably damaging |
Het |
Otop2 |
G |
A |
11: 115,220,633 (GRCm39) |
R491H |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
Sgtb |
T |
C |
13: 104,268,453 (GRCm39) |
L163P |
probably damaging |
Het |
Spsb3 |
T |
C |
17: 25,110,045 (GRCm39) |
I365T |
possibly damaging |
Het |
Tmem273 |
A |
G |
14: 32,527,133 (GRCm39) |
I33M |
probably damaging |
Het |
Trio |
T |
C |
15: 27,902,781 (GRCm39) |
I227V |
probably benign |
Het |
Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
Wasf2 |
A |
G |
4: 132,903,857 (GRCm39) |
T22A |
probably benign |
Het |
|
Other mutations in Krt20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01455:Krt20
|
APN |
11 |
99,322,769 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01926:Krt20
|
APN |
11 |
99,328,652 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02105:Krt20
|
APN |
11 |
99,328,827 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03274:Krt20
|
APN |
11 |
99,320,855 (GRCm39) |
splice site |
probably benign |
|
IGL03331:Krt20
|
APN |
11 |
99,326,256 (GRCm39) |
splice site |
probably null |
|
R0091:Krt20
|
UTSW |
11 |
99,328,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R0446:Krt20
|
UTSW |
11 |
99,328,602 (GRCm39) |
nonsense |
probably null |
|
R3955:Krt20
|
UTSW |
11 |
99,323,037 (GRCm39) |
nonsense |
probably null |
|
R4805:Krt20
|
UTSW |
11 |
99,319,811 (GRCm39) |
missense |
unknown |
|
R5156:Krt20
|
UTSW |
11 |
99,320,879 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5620:Krt20
|
UTSW |
11 |
99,326,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R6716:Krt20
|
UTSW |
11 |
99,322,754 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7006:Krt20
|
UTSW |
11 |
99,328,587 (GRCm39) |
missense |
probably benign |
0.34 |
R8041:Krt20
|
UTSW |
11 |
99,328,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R8296:Krt20
|
UTSW |
11 |
99,323,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R9189:Krt20
|
UTSW |
11 |
99,323,087 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Posted On |
2016-08-02 |