Incidental Mutation 'R4597:Krt1'
| ID |
344472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt1
|
| Ensembl Gene |
ENSMUSG00000046834 |
| Gene Name |
keratin 1 |
| Synonyms |
Krt2-1, Krt-2.1 |
| MMRRC Submission |
041813-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.454)
|
| Stock # |
R4597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101753861-101759221 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101756063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 386
(E386K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023790]
|
| AlphaFold |
P04104 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023790
AA Change: E386K
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: E386K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
19 |
184 |
7.5e-35 |
PFAM |
|
Filament
|
187 |
500 |
1.02e-154 |
SMART |
|
Pfam:Keratin_2_tail
|
501 |
633 |
7.6e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231047
|
| Meta Mutation Damage Score |
0.0864 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a dominant mutation exhibit significant blistering and skin erosions at birth and develop severe hyperkeratosis as adults. Mice homozygous for the dominant mutation also exhibit blistering, and die before weaning age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
T |
A |
2: 103,856,500 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm3 |
T |
A |
3: 59,784,214 (GRCm39) |
M229K |
possibly damaging |
Het |
| Adh5 |
T |
C |
3: 138,151,118 (GRCm39) |
V27A |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,781,800 (GRCm39) |
D843E |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,268,737 (GRCm39) |
N950S |
probably damaging |
Het |
| Arl1 |
A |
T |
10: 88,566,608 (GRCm39) |
|
probably benign |
Het |
| Bcl3 |
T |
G |
7: 19,546,428 (GRCm39) |
I136L |
probably damaging |
Het |
| Car9 |
T |
A |
4: 43,509,138 (GRCm39) |
S235R |
probably damaging |
Het |
| Carnmt1 |
G |
T |
19: 18,648,451 (GRCm39) |
G30W |
probably damaging |
Het |
| Casp12 |
C |
T |
9: 5,348,941 (GRCm39) |
T101I |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,244,823 (GRCm39) |
L1026P |
probably damaging |
Het |
| Clec10a |
A |
T |
11: 70,060,806 (GRCm39) |
Y186F |
probably damaging |
Het |
| Col22a1 |
G |
T |
15: 71,836,511 (GRCm39) |
A508E |
possibly damaging |
Het |
| Crocc |
G |
C |
4: 140,747,088 (GRCm39) |
S1573R |
probably damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,913,191 (GRCm39) |
T231K |
possibly damaging |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,767,955 (GRCm39) |
E1116G |
possibly damaging |
Het |
| Fam83d |
T |
C |
2: 158,627,142 (GRCm39) |
V277A |
possibly damaging |
Het |
| Fga |
G |
T |
3: 82,938,542 (GRCm39) |
G306* |
probably null |
Het |
| Fkbp9 |
A |
G |
6: 56,809,367 (GRCm39) |
Y59C |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,274,441 (GRCm39) |
T450A |
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,367,791 (GRCm39) |
M414V |
possibly damaging |
Het |
| Gm16506 |
A |
G |
14: 43,962,572 (GRCm39) |
F112L |
unknown |
Het |
| Gm27047 |
T |
C |
6: 130,607,299 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4353 |
T |
A |
7: 115,682,847 (GRCm39) |
K245* |
probably null |
Het |
| Gm4950 |
A |
T |
18: 51,998,865 (GRCm39) |
I30N |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,681 (GRCm39) |
V15E |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,596,285 (GRCm39) |
T187A |
probably benign |
Het |
| H60c |
A |
T |
10: 3,209,968 (GRCm39) |
N106K |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,185,387 (GRCm39) |
|
probably null |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,276 (GRCm39) |
C115R |
probably damaging |
Het |
| Il17a |
G |
A |
1: 20,801,217 (GRCm39) |
|
probably null |
Het |
| Itga9 |
T |
C |
9: 118,672,582 (GRCm39) |
Y199H |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,312,257 (GRCm39) |
R554C |
probably damaging |
Het |
| Kcnc3 |
T |
A |
7: 44,245,240 (GRCm39) |
M510K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,744,358 (GRCm39) |
S1485C |
probably damaging |
Het |
| Klhl2 |
C |
A |
8: 65,207,421 (GRCm39) |
G313W |
probably damaging |
Het |
| Klhl32 |
C |
T |
4: 24,629,339 (GRCm39) |
S476N |
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,567,510 (GRCm39) |
S94P |
probably benign |
Het |
| Ltf |
G |
A |
9: 110,852,001 (GRCm39) |
C146Y |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,136,322 (GRCm39) |
L501P |
probably damaging |
Het |
| Myh2 |
A |
C |
11: 67,080,244 (GRCm39) |
I1153L |
probably benign |
Het |
| Ncstn |
A |
T |
1: 171,895,823 (GRCm39) |
Y522* |
probably null |
Het |
| Nipal4 |
A |
G |
11: 46,042,156 (GRCm39) |
V175A |
probably damaging |
Het |
| Or7e169 |
T |
C |
9: 19,756,987 (GRCm39) |
I309M |
probably benign |
Het |
| Pcdha1 |
C |
G |
18: 37,064,959 (GRCm39) |
A541G |
possibly damaging |
Het |
| Pex11g |
A |
G |
8: 3,514,043 (GRCm39) |
Y40H |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,154 (GRCm39) |
Y496F |
possibly damaging |
Het |
| Qrfprl |
T |
C |
6: 65,424,408 (GRCm39) |
|
probably null |
Het |
| Rin2 |
G |
T |
2: 145,702,825 (GRCm39) |
R507L |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,260,616 (GRCm39) |
D200G |
probably damaging |
Het |
| Smg7 |
C |
A |
1: 152,716,052 (GRCm39) |
|
probably null |
Het |
| Snx17 |
T |
C |
5: 31,355,857 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,741,255 (GRCm39) |
Y510C |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,427 (GRCm39) |
L323* |
probably null |
Het |
| Supt16 |
C |
T |
14: 52,411,046 (GRCm39) |
G686D |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,229,878 (GRCm39) |
R2751H |
unknown |
Het |
| Tnfsf8 |
A |
G |
4: 63,755,337 (GRCm39) |
L95P |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,428 (GRCm39) |
H493R |
probably benign |
Het |
| Zfp770 |
C |
T |
2: 114,027,251 (GRCm39) |
A273T |
possibly damaging |
Het |
|
| Other mutations in Krt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Krt1
|
APN |
15 |
101,756,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01478:Krt1
|
APN |
15 |
101,754,721 (GRCm39) |
splice site |
probably benign |
|
|
IGL01919:Krt1
|
APN |
15 |
101,754,811 (GRCm39) |
missense |
unknown |
|
|
IGL01970:Krt1
|
APN |
15 |
101,755,299 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02207:Krt1
|
APN |
15 |
101,757,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02643:Krt1
|
APN |
15 |
101,755,479 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0445:Krt1
|
UTSW |
15 |
101,756,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Krt1
|
UTSW |
15 |
101,758,901 (GRCm39) |
missense |
unknown |
|
|
R1006:Krt1
|
UTSW |
15 |
101,756,326 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1163:Krt1
|
UTSW |
15 |
101,756,600 (GRCm39) |
nonsense |
probably null |
|
|
R1217:Krt1
|
UTSW |
15 |
101,757,416 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1325:Krt1
|
UTSW |
15 |
101,756,641 (GRCm39) |
splice site |
probably null |
|
|
R1965:Krt1
|
UTSW |
15 |
101,757,427 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1966:Krt1
|
UTSW |
15 |
101,757,427 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2101:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R2302:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R2697:Krt1
|
UTSW |
15 |
101,755,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3034:Krt1
|
UTSW |
15 |
101,759,068 (GRCm39) |
missense |
unknown |
|
|
R3079:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R3080:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R3891:Krt1
|
UTSW |
15 |
101,758,847 (GRCm39) |
missense |
unknown |
|
|
R3892:Krt1
|
UTSW |
15 |
101,758,847 (GRCm39) |
missense |
unknown |
|
|
R4180:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R4305:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R4334:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R4625:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R4626:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R4628:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R4629:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R4630:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R4631:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R4632:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R4633:Krt1
|
UTSW |
15 |
101,754,622 (GRCm39) |
missense |
unknown |
|
|
R4893:Krt1
|
UTSW |
15 |
101,758,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Krt1
|
UTSW |
15 |
101,754,376 (GRCm39) |
missense |
unknown |
|
|
R5193:Krt1
|
UTSW |
15 |
101,754,357 (GRCm39) |
missense |
unknown |
|
|
R5254:Krt1
|
UTSW |
15 |
101,754,803 (GRCm39) |
missense |
unknown |
|
|
R5448:Krt1
|
UTSW |
15 |
101,757,464 (GRCm39) |
nonsense |
probably null |
|
|
R5494:Krt1
|
UTSW |
15 |
101,759,149 (GRCm39) |
missense |
unknown |
|
|
R5567:Krt1
|
UTSW |
15 |
101,755,340 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5570:Krt1
|
UTSW |
15 |
101,755,340 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5869:Krt1
|
UTSW |
15 |
101,758,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6200:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R6224:Krt1
|
UTSW |
15 |
101,758,702 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6326:Krt1
|
UTSW |
15 |
101,758,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6517:Krt1
|
UTSW |
15 |
101,758,702 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6525:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R6918:Krt1
|
UTSW |
15 |
101,758,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7018:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R7040:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R7110:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R7296:Krt1
|
UTSW |
15 |
101,759,064 (GRCm39) |
missense |
unknown |
|
|
R7368:Krt1
|
UTSW |
15 |
101,755,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R7706:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R8416:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R8418:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R8842:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R8914:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R8964:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R8979:Krt1
|
UTSW |
15 |
101,755,340 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8988:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R9134:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R9248:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R9380:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R9404:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R9430:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R9638:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
R9768:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
RF003:Krt1
|
UTSW |
15 |
101,758,813 (GRCm39) |
small deletion |
probably benign |
|
|
X0067:Krt1
|
UTSW |
15 |
101,756,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Krt1
|
UTSW |
15 |
101,758,970 (GRCm39) |
missense |
unknown |
|
|
Z1177:Krt1
|
UTSW |
15 |
101,754,451 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGACATAGTCCCCAAAGG -3'
(R):5'- CATTTGCCAGAGGAGCAAGG -3'
Sequencing Primer
(F):5'- AAGGTAGTTCAGCCTTGGTAAG -3'
(R):5'- GCTGAAGCTGAGACCTTTTACCAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation