Incidental Mutation 'R1077:Krt33a'
| ID |
85694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt33a
|
| Ensembl Gene |
ENSMUSG00000035592 |
| Gene Name |
keratin 33A |
| Synonyms |
2310015J09Rik |
| MMRRC Submission |
039163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R1077 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99902025-99907038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99906763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 71
(M71L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018399]
|
| AlphaFold |
Q8K0Y2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018399
AA Change: M71L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: M71L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
Filament
|
55 |
366 |
1.99e-148 |
SMART |
|
internal_repeat_1
|
368 |
385 |
6.11e-5 |
PROSPERO |
|
internal_repeat_1
|
384 |
399 |
6.11e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138756
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
PHENOTYPE: Mutations of this gene cause the hair coat to appear either shiny, reflective and "polished" or greasy looking, disheveled and "spikey." [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
| Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
| Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
| Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
| Fis1 |
G |
A |
5: 136,994,000 (GRCm39) |
A28T |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,297,542 (GRCm39) |
|
probably null |
Het |
| Grk6 |
T |
C |
13: 55,602,340 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,116,891 (GRCm39) |
E728G |
probably damaging |
Het |
| Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
| Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,062,433 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
| Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
| Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,900,685 (GRCm39) |
H180Q |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 31,968,514 (GRCm39) |
H235R |
probably benign |
Het |
|
| Other mutations in Krt33a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01803:Krt33a
|
APN |
11 |
99,902,843 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02412:Krt33a
|
APN |
11 |
99,902,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02523:Krt33a
|
APN |
11 |
99,902,518 (GRCm39) |
missense |
probably benign |
0.02 |
|
Polished
|
UTSW |
11 |
99,903,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Polished2
|
UTSW |
11 |
99,906,676 (GRCm39) |
missense |
probably benign |
0.10 |
|
Spikey
|
UTSW |
11 |
99,902,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Krt33a
|
UTSW |
11 |
99,906,909 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0496:Krt33a
|
UTSW |
11 |
99,903,155 (GRCm39) |
splice site |
probably benign |
|
|
R0691:Krt33a
|
UTSW |
11 |
99,903,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Krt33a
|
UTSW |
11 |
99,905,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Krt33a
|
UTSW |
11 |
99,903,175 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1944:Krt33a
|
UTSW |
11 |
99,903,535 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1945:Krt33a
|
UTSW |
11 |
99,903,535 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2254:Krt33a
|
UTSW |
11 |
99,905,004 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2255:Krt33a
|
UTSW |
11 |
99,905,004 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3716:Krt33a
|
UTSW |
11 |
99,904,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4377:Krt33a
|
UTSW |
11 |
99,903,253 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5233:Krt33a
|
UTSW |
11 |
99,904,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Krt33a
|
UTSW |
11 |
99,903,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6316:Krt33a
|
UTSW |
11 |
99,905,027 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6807:Krt33a
|
UTSW |
11 |
99,903,209 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7272:Krt33a
|
UTSW |
11 |
99,902,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Krt33a
|
UTSW |
11 |
99,902,801 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7461:Krt33a
|
UTSW |
11 |
99,902,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Krt33a
|
UTSW |
11 |
99,902,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Krt33a
|
UTSW |
11 |
99,906,693 (GRCm39) |
missense |
probably benign |
|
|
R7748:Krt33a
|
UTSW |
11 |
99,902,428 (GRCm39) |
missense |
probably benign |
|
|
R8183:Krt33a
|
UTSW |
11 |
99,905,575 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8554:Krt33a
|
UTSW |
11 |
99,903,209 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8841:Krt33a
|
UTSW |
11 |
99,904,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9587:Krt33a
|
UTSW |
11 |
99,906,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Krt33a
|
UTSW |
11 |
99,906,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Krt33a
|
UTSW |
11 |
99,902,740 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACCACGCCAAGAGTTCATGTC -3'
(R):5'- ACCATGCCATACAACTGCTGCCTG -3'
Sequencing Primer
(F):5'- CCTGAGAACTTCCTGCTAGGAATG -3'
(R):5'- ATGAGCTGCCGCACCAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation