Incidental Mutation 'R6316:Krt33a'
| ID |
509994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt33a
|
| Ensembl Gene |
ENSMUSG00000035592 |
| Gene Name |
keratin 33A |
| Synonyms |
2310015J09Rik |
| MMRRC Submission |
044416-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99902025-99907038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99905027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 160
(N160D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018399]
|
| AlphaFold |
Q8K0Y2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018399
AA Change: N160D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018399
Gene: ENSMUSG00000035592
AA Change: N160D
| 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 |
0.1965 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,118 (GRCm39) |
T775A |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,196 (GRCm39) |
N523I |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,647,187 (GRCm39) |
T3118A |
possibly damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Asxl3 |
A |
G |
18: 22,655,839 (GRCm39) |
Y1283C |
probably damaging |
Het |
| Btbd2 |
T |
A |
10: 80,480,612 (GRCm39) |
I319F |
probably damaging |
Het |
| Eno4 |
G |
A |
19: 58,948,723 (GRCm39) |
|
probably null |
Het |
| Glis2 |
T |
A |
16: 4,431,700 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,757,277 (GRCm39) |
C395S |
probably benign |
Het |
| H1f8 |
T |
C |
6: 115,925,876 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
T |
A |
1: 66,774,744 (GRCm39) |
Y694F |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,308,632 (GRCm39) |
E332V |
probably damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,694,113 (GRCm39) |
E278G |
probably benign |
Het |
| Ksr2 |
A |
G |
5: 117,823,567 (GRCm39) |
N448S |
probably damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,774 (GRCm39) |
Y245C |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,028,467 (GRCm39) |
I457T |
possibly damaging |
Het |
| Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,860,481 (GRCm39) |
D321G |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,199 (GRCm39) |
C153S |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,553,115 (GRCm39) |
T4393A |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,356,787 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,768 (GRCm39) |
Y276C |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,720,822 (GRCm39) |
K225N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,615,943 (GRCm39) |
V69A |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,232,210 (GRCm39) |
V99A |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,204,709 (GRCm39) |
V196A |
probably benign |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,845,786 (GRCm39) |
H130R |
probably benign |
Het |
| Tead1 |
C |
A |
7: 112,491,046 (GRCm39) |
Q296K |
probably damaging |
Het |
| Thoc2l |
G |
C |
5: 104,667,595 (GRCm39) |
G706R |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,479,102 (GRCm39) |
S139N |
probably benign |
Het |
| Tor1aip2 |
G |
T |
1: 155,937,840 (GRCm39) |
D192Y |
probably damaging |
Het |
| Trgv2 |
G |
A |
13: 19,520,912 (GRCm39) |
Q61* |
probably null |
Het |
| Trib1 |
T |
C |
15: 59,521,264 (GRCm39) |
S85P |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,750,336 (GRCm39) |
N1581K |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,883,930 (GRCm39) |
Y563C |
probably damaging |
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 |
|
R1077:Krt33a
|
UTSW |
11 |
99,906,763 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- TTGAGCCTCAACTCACAGCC -3'
(R):5'- ACCTACTTCTGGATCTTGACAAC -3'
Sequencing Primer
(F):5'- TCTCCCCACAGCCCGTG -3'
(R):5'- TGGATCTTGACAACTTAAATAGAAGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation