Incidental Mutation 'IGL01572:Krt33b'
| ID |
91146 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt33b
|
| Ensembl Gene |
ENSMUSG00000057723 |
| Gene Name |
keratin 33B |
| Synonyms |
mHa3, Krt1-3, Ha3, Ha4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99914460-99920694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99917378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 158
(D158G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073890]
|
| AlphaFold |
Q61897 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073890
AA Change: D158G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073552
Gene: ENSMUSG00000057723
AA Change: D158G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
Filament
|
55 |
366 |
1.39e-152 |
SMART |
|
internal_repeat_1
|
368 |
390 |
8.93e-6 |
PROSPERO |
|
internal_repeat_1
|
384 |
404 |
8.93e-6 |
PROSPERO |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
G |
5: 67,824,994 (GRCm39) |
V779A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,715 (GRCm39) |
S1199P |
probably damaging |
Het |
| BC051076 |
C |
A |
5: 88,112,549 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,784,621 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
T |
C |
7: 19,708,199 (GRCm39) |
V268A |
probably damaging |
Het |
| Cntn2 |
T |
G |
1: 132,455,909 (GRCm39) |
D203A |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,051,300 (GRCm39) |
N148D |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,861,010 (GRCm39) |
V2131E |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,841,054 (GRCm39) |
|
probably null |
Het |
| Eif5b |
A |
T |
1: 38,061,335 (GRCm39) |
K409* |
probably null |
Het |
| Fam237b |
T |
A |
5: 5,625,475 (GRCm39) |
I57K |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,175,003 (GRCm39) |
V868A |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,843,189 (GRCm39) |
T767A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,347,905 (GRCm39) |
V759E |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,038,311 (GRCm39) |
T171A |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,334,414 (GRCm39) |
R198G |
probably benign |
Het |
| Mst1r |
C |
A |
9: 107,788,791 (GRCm39) |
R437S |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,920,585 (GRCm39) |
I458K |
possibly damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,283 (GRCm39) |
I256M |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,324,230 (GRCm39) |
N1418K |
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,762,232 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
G |
T |
1: 165,927,941 (GRCm39) |
A557E |
probably benign |
Het |
| Zfp595 |
A |
T |
13: 67,465,465 (GRCm39) |
I266K |
possibly damaging |
Het |
|
| Other mutations in Krt33b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Krt33b
|
APN |
11 |
99,920,386 (GRCm39) |
missense |
probably benign |
|
|
IGL02244:Krt33b
|
APN |
11 |
99,916,189 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02811:Krt33b
|
APN |
11 |
99,920,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03340:Krt33b
|
APN |
11 |
99,916,298 (GRCm39) |
splice site |
probably benign |
|
|
R1758:Krt33b
|
UTSW |
11 |
99,916,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Krt33b
|
UTSW |
11 |
99,914,835 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5414:Krt33b
|
UTSW |
11 |
99,920,612 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5703:Krt33b
|
UTSW |
11 |
99,916,374 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6307:Krt33b
|
UTSW |
11 |
99,915,694 (GRCm39) |
missense |
probably benign |
|
|
R7463:Krt33b
|
UTSW |
11 |
99,920,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Krt33b
|
UTSW |
11 |
99,916,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8468:Krt33b
|
UTSW |
11 |
99,920,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9102:Krt33b
|
UTSW |
11 |
99,915,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Krt33b
|
UTSW |
11 |
99,917,315 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-12-09 |
Incidental Mutation