Incidental Mutation 'IGL00953:Klhl24'
| ID |
29179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl24
|
| Ensembl Gene |
ENSMUSG00000062901 |
| Gene Name |
kelch-like 24 |
| Synonyms |
4930429H24Rik, 1110046J11Rik, 6530402O20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL00953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
19916292-19947971 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19941717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 555
(N555I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023509]
|
| AlphaFold |
Q8BRG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023509
AA Change: N555I
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023509
Gene: ENSMUSG00000062901
AA Change: N555I
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
66 |
163 |
3.49e-29 |
SMART |
|
BACK
|
168 |
270 |
1.53e-38 |
SMART |
|
Kelch
|
314 |
363 |
8.21e-2 |
SMART |
|
Kelch
|
364 |
407 |
6.04e-3 |
SMART |
|
Kelch
|
408 |
454 |
5.71e-13 |
SMART |
|
Kelch
|
455 |
502 |
1.51e-3 |
SMART |
|
Kelch
|
503 |
544 |
9.19e-1 |
SMART |
|
Kelch
|
545 |
592 |
2.43e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,902,047 (GRCm39) |
E726G |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,321,928 (GRCm39) |
|
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,660,966 (GRCm39) |
T109A |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,552,972 (GRCm39) |
W84* |
probably null |
Het |
| Cyp27b1 |
A |
G |
10: 126,885,551 (GRCm39) |
D130G |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,829,242 (GRCm39) |
V249A |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,692,920 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
T |
17: 30,925,431 (GRCm39) |
E1289* |
probably null |
Het |
| Fam171a1 |
A |
T |
2: 3,179,327 (GRCm39) |
D51V |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,488,896 (GRCm39) |
R107G |
possibly damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,294 (GRCm39) |
F85L |
possibly damaging |
Het |
| Hivep3 |
A |
C |
4: 119,955,571 (GRCm39) |
T1296P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,976,021 (GRCm39) |
S670T |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,308,948 (GRCm39) |
S216T |
probably benign |
Het |
| Lmf2 |
A |
T |
15: 89,238,102 (GRCm39) |
I234N |
probably damaging |
Het |
| Mrpl4 |
C |
A |
9: 20,919,863 (GRCm39) |
D271E |
probably benign |
Het |
| Mydgf |
C |
T |
17: 56,486,407 (GRCm39) |
G75R |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,630 (GRCm39) |
D5G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,052 (GRCm39) |
Y130* |
probably null |
Het |
| Or5k15 |
A |
C |
16: 58,710,048 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,951 (GRCm39) |
M363K |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,329 (GRCm39) |
F137S |
probably damaging |
Het |
| Rbm12b1 |
A |
G |
4: 12,146,038 (GRCm39) |
D670G |
probably damaging |
Het |
| Rrp12 |
C |
A |
19: 41,860,231 (GRCm39) |
M997I |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,327,736 (GRCm39) |
V918A |
probably benign |
Het |
| Slc35g2 |
A |
G |
9: 100,434,516 (GRCm39) |
V385A |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,590,739 (GRCm39) |
I1311N |
probably damaging |
Het |
| Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
A |
G |
7: 100,147,629 (GRCm39) |
T203A |
probably benign |
Het |
| Upk1b |
C |
T |
16: 38,600,347 (GRCm39) |
G211D |
possibly damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,367,935 (GRCm39) |
F254I |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,965,638 (GRCm39) |
F314S |
probably damaging |
Het |
|
| Other mutations in Klhl24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02419:Klhl24
|
APN |
16 |
19,926,118 (GRCm39) |
nonsense |
probably null |
|
|
IGL02504:Klhl24
|
APN |
16 |
19,934,693 (GRCm39) |
nonsense |
probably null |
|
|
IGL02799:Klhl24
|
UTSW |
16 |
19,933,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Klhl24
|
UTSW |
16 |
19,925,638 (GRCm39) |
missense |
probably benign |
|
|
R1512:Klhl24
|
UTSW |
16 |
19,941,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Klhl24
|
UTSW |
16 |
19,925,842 (GRCm39) |
nonsense |
probably null |
|
|
R2076:Klhl24
|
UTSW |
16 |
19,936,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2504:Klhl24
|
UTSW |
16 |
19,938,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4084:Klhl24
|
UTSW |
16 |
19,933,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4299:Klhl24
|
UTSW |
16 |
19,925,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Klhl24
|
UTSW |
16 |
19,938,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Klhl24
|
UTSW |
16 |
19,925,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5652:Klhl24
|
UTSW |
16 |
19,938,997 (GRCm39) |
nonsense |
probably null |
|
|
R5827:Klhl24
|
UTSW |
16 |
19,938,871 (GRCm39) |
nonsense |
probably null |
|
|
R6363:Klhl24
|
UTSW |
16 |
19,938,933 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6734:Klhl24
|
UTSW |
16 |
19,926,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Klhl24
|
UTSW |
16 |
19,926,231 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7361:Klhl24
|
UTSW |
16 |
19,936,750 (GRCm39) |
missense |
probably benign |
|
|
R7482:Klhl24
|
UTSW |
16 |
19,933,405 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7894:Klhl24
|
UTSW |
16 |
19,941,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8229:Klhl24
|
UTSW |
16 |
19,933,321 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8843:Klhl24
|
UTSW |
16 |
19,938,980 (GRCm39) |
nonsense |
probably null |
|
|
R9147:Klhl24
|
UTSW |
16 |
19,936,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Klhl24
|
UTSW |
16 |
19,936,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Klhl24
|
UTSW |
16 |
19,941,735 (GRCm39) |
missense |
|
|
|
R9478:Klhl24
|
UTSW |
16 |
19,941,763 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9566:Klhl24
|
UTSW |
16 |
19,934,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation