Incidental Mutation 'R6716:Krt20'
ID |
529406 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt20
|
Ensembl Gene |
ENSMUSG00000035775 |
Gene Name |
keratin 20 |
Synonyms |
CK20, 9030623C06Rik, cytokeratin 20 |
MMRRC Submission |
044834-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R6716 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
99319229-99328976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99322754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 294
(T294A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017743]
|
AlphaFold |
Q9D312 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017743
AA Change: T294A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000017743 Gene: ENSMUSG00000035775 AA Change: T294A
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp7 |
C |
T |
2: 172,714,682 (GRCm39) |
A376T |
probably damaging |
Het |
Bnip2 |
T |
C |
9: 69,910,943 (GRCm39) |
I296T |
probably damaging |
Het |
Chrm2 |
T |
A |
6: 36,501,370 (GRCm39) |
I409N |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,830,565 (GRCm39) |
T4310S |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,379,130 (GRCm39) |
S122P |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,402,231 (GRCm39) |
S635N |
probably damaging |
Het |
Nphs2 |
A |
G |
1: 156,148,637 (GRCm39) |
S242G |
probably benign |
Het |
Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
Rab11fip3 |
G |
T |
17: 26,210,031 (GRCm39) |
S1028R |
probably damaging |
Het |
Rlig1 |
T |
G |
10: 100,409,478 (GRCm39) |
I312L |
probably benign |
Het |
Sec23a |
C |
T |
12: 59,015,609 (GRCm39) |
G711D |
probably benign |
Het |
Slc50a1 |
T |
C |
3: 89,177,214 (GRCm39) |
T68A |
probably damaging |
Het |
Sphkap |
C |
T |
1: 83,339,949 (GRCm39) |
|
probably null |
Het |
Tas2r122 |
A |
T |
6: 132,688,860 (GRCm39) |
I11N |
probably damaging |
Het |
Tpr |
C |
T |
1: 150,290,516 (GRCm39) |
R782C |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,858,749 (GRCm39) |
L2733P |
probably benign |
Het |
Vtn |
C |
T |
11: 78,391,052 (GRCm39) |
R211C |
probably damaging |
Het |
Xrcc1 |
T |
C |
7: 24,266,571 (GRCm39) |
|
probably null |
Het |
Zc2hc1b |
T |
C |
10: 13,047,027 (GRCm39) |
D28G |
probably damaging |
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 |
IGL03225:Krt20
|
APN |
11 |
99,322,756 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTGGCTCTGCAAGGGAAG -3'
(R):5'- AGACAGGTAATTCTAGTCTGGGG -3'
Sequencing Primer
(F):5'- TGCAAGGGAAGAGGTTATTTATTACG -3'
(R):5'- CCACGGAGAGAGATGATGTTTTCTC -3'
|
Posted On |
2018-08-01 |