Incidental Mutation 'R2436:Krt80'
| ID |
249602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt80
|
| Ensembl Gene |
ENSMUSG00000037185 |
| Gene Name |
keratin 80 |
| Synonyms |
2310041I20Rik, Kb20, 1200016G03Rik |
| MMRRC Submission |
040397-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2436 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101246196-101268043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101257384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 183
(F183L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077196]
[ENSMUST00000230831]
[ENSMUST00000230909]
|
| AlphaFold |
Q0VBK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077196
AA Change: F183L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185
AA Change: F183L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
2 |
79 |
2.5e-12 |
PFAM |
|
Filament
|
82 |
393 |
2.18e-113 |
SMART |
|
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230831
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230909
AA Change: F130L
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,582,308 (GRCm39) |
S277P |
possibly damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,662 (GRCm39) |
S52P |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,824,383 (GRCm39) |
H2R |
probably damaging |
Het |
| Calhm3 |
T |
C |
19: 47,140,404 (GRCm39) |
T230A |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,868,117 (GRCm39) |
V844M |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,126,156 (GRCm39) |
R1327Q |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,923,549 (GRCm39) |
I427V |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,039,524 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
A |
3: 82,921,496 (GRCm39) |
I393N |
possibly damaging |
Het |
| Foxq1 |
A |
T |
13: 31,742,516 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,566 (GRCm39) |
T646A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,745,706 (GRCm39) |
E324K |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,354 (GRCm39) |
K647* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,325,891 (GRCm39) |
Y1067C |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,104,097 (GRCm39) |
Q921H |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,862,029 (GRCm39) |
F200S |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,309,143 (GRCm39) |
N153S |
possibly damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,591 (GRCm39) |
F209L |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,952 (GRCm39) |
C142R |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,117 (GRCm39) |
V114A |
probably benign |
Het |
| Or5k1 |
C |
T |
16: 58,617,607 (GRCm39) |
V201I |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,782,943 (GRCm39) |
L86F |
probably damaging |
Het |
| Polr3h |
G |
T |
15: 81,801,406 (GRCm39) |
L157I |
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,336,376 (GRCm39) |
V1525M |
possibly damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,996,079 (GRCm39) |
D561E |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,440,354 (GRCm39) |
D800V |
possibly damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,655 (GRCm39) |
L223F |
possibly damaging |
Het |
| Slc16a9 |
TCCCC |
TCCCCC |
10: 70,091,911 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
G |
T |
5: 135,864,030 (GRCm39) |
E43* |
probably null |
Het |
| Tcaf3 |
G |
A |
6: 42,570,663 (GRCm39) |
A363V |
probably damaging |
Het |
| Tmem138 |
A |
G |
19: 10,552,268 (GRCm39) |
F78S |
probably damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,676 (GRCm39) |
D138N |
probably damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,986,568 (GRCm39) |
V1344I |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,266,842 (GRCm39) |
L1875* |
probably null |
Het |
| Vmn2r109 |
C |
A |
17: 20,774,798 (GRCm39) |
G186C |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,373 (GRCm39) |
N137D |
possibly damaging |
Het |
|
| Other mutations in Krt80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Krt80
|
APN |
15 |
101,247,879 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03184:Krt80
|
APN |
15 |
101,250,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Krt80
|
UTSW |
15 |
101,262,089 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0394:Krt80
|
UTSW |
15 |
101,250,180 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0520:Krt80
|
UTSW |
15 |
101,267,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1654:Krt80
|
UTSW |
15 |
101,249,590 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4326:Krt80
|
UTSW |
15 |
101,250,189 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5292:Krt80
|
UTSW |
15 |
101,250,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Krt80
|
UTSW |
15 |
101,257,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5927:Krt80
|
UTSW |
15 |
101,262,089 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6847:Krt80
|
UTSW |
15 |
101,256,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8218:Krt80
|
UTSW |
15 |
101,267,884 (GRCm39) |
missense |
probably benign |
|
|
R9295:Krt80
|
UTSW |
15 |
101,249,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9376:Krt80
|
UTSW |
15 |
101,247,978 (GRCm39) |
missense |
unknown |
|
|
R9686:Krt80
|
UTSW |
15 |
101,262,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGATGGAGGGAGGGTCA -3'
(R):5'- CAAAGGAAGACCCAAGTTCTCT -3'
Sequencing Primer
(F):5'- CATGATGGAGGGAGGGTCATGATG -3'
(R):5'- ACTATGTGGCCCTGAATAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation