Incidental Mutation 'IGL02804:Klhl33'
| ID |
360347 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl33
|
| Ensembl Gene |
ENSMUSG00000090799 |
| Gene Name |
kelch-like 33 |
| Synonyms |
EG546611 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
IGL02804
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51126038-51134940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51130411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 101
(H101R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164415]
[ENSMUST00000170855]
[ENSMUST00000227271]
|
| AlphaFold |
A0A2I3BRZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164415
AA Change: H101R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: H101R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
1 |
70 |
5.7e-6 |
PFAM |
|
BACK
|
75 |
176 |
3.59e-21 |
SMART |
|
Kelch
|
273 |
322 |
5.26e-3 |
SMART |
|
Kelch
|
323 |
369 |
7.83e-11 |
SMART |
|
Kelch
|
370 |
418 |
1.46e-1 |
SMART |
|
Kelch
|
419 |
465 |
2.84e-8 |
SMART |
|
Kelch
|
466 |
514 |
6.08e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170855
|
| SMART Domains |
Protein: ENSMUSP00000131456
Gene: ENSMUSG00000090799
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1buoa_
|
83 |
129 |
2e-3 |
SMART |
|
Blast:BTB
|
109 |
170 |
2e-18 |
BLAST |
|
SCOP:d1jkjb2
|
142 |
198 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226765
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227271
AA Change: H361R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,397,009 (GRCm39) |
I241N |
possibly damaging |
Het |
| Aftph |
T |
C |
11: 20,676,107 (GRCm39) |
T501A |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,258,512 (GRCm39) |
S985P |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,417,788 (GRCm39) |
S650T |
probably damaging |
Het |
| Camk2d |
G |
A |
3: 126,591,387 (GRCm39) |
E286K |
possibly damaging |
Het |
| Card10 |
A |
G |
15: 78,686,649 (GRCm39) |
V56A |
probably damaging |
Het |
| Fcgbpl1 |
G |
T |
7: 27,852,795 (GRCm39) |
V1361L |
probably benign |
Het |
| H2-Q10 |
G |
A |
17: 35,784,147 (GRCm39) |
G263R |
probably damaging |
Het |
| Herc4 |
A |
C |
10: 63,121,454 (GRCm39) |
K365Q |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,082,159 (GRCm39) |
N255Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,467,643 (GRCm39) |
L756P |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,518,210 (GRCm39) |
|
probably null |
Het |
| Or6c88 |
T |
C |
10: 129,407,306 (GRCm39) |
S261P |
possibly damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,314,161 (GRCm39) |
Y145H |
probably damaging |
Het |
| Prkag1 |
G |
A |
15: 98,713,385 (GRCm39) |
S69L |
probably damaging |
Het |
| Prkd2 |
C |
A |
7: 16,589,815 (GRCm39) |
R506S |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,268,204 (GRCm39) |
D102E |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,077,898 (GRCm39) |
|
probably benign |
Het |
| Snap23 |
T |
C |
2: 120,416,637 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,874,182 (GRCm39) |
|
probably benign |
Het |
| Speer4a2 |
T |
A |
5: 26,291,429 (GRCm39) |
K126* |
probably null |
Het |
| Strbp |
T |
C |
2: 37,514,498 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
G |
A |
17: 29,745,455 (GRCm39) |
L92F |
probably damaging |
Het |
| Troap |
G |
A |
15: 98,975,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,467 (GRCm39) |
M52V |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zbp1 |
T |
A |
2: 173,050,939 (GRCm39) |
K310N |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,509,285 (GRCm39) |
H332L |
probably benign |
Het |
|
| Other mutations in Klhl33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01561:Klhl33
|
APN |
14 |
51,128,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01965:Klhl33
|
APN |
14 |
51,129,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Klhl33
|
APN |
14 |
51,129,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Klhl33
|
UTSW |
14 |
51,128,868 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0520:Klhl33
|
UTSW |
14 |
51,129,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Klhl33
|
UTSW |
14 |
51,129,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0894:Klhl33
|
UTSW |
14 |
51,129,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0989:Klhl33
|
UTSW |
14 |
51,129,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Klhl33
|
UTSW |
14 |
51,130,534 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1795:Klhl33
|
UTSW |
14 |
51,129,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2088:Klhl33
|
UTSW |
14 |
51,130,230 (GRCm39) |
nonsense |
probably null |
|
|
R3114:Klhl33
|
UTSW |
14 |
51,128,972 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5650:Klhl33
|
UTSW |
14 |
51,129,285 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5851:Klhl33
|
UTSW |
14 |
51,130,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Klhl33
|
UTSW |
14 |
51,130,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6365:Klhl33
|
UTSW |
14 |
51,129,294 (GRCm39) |
missense |
probably benign |
|
|
R6434:Klhl33
|
UTSW |
14 |
51,130,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Klhl33
|
UTSW |
14 |
51,134,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6881:Klhl33
|
UTSW |
14 |
51,128,929 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6932:Klhl33
|
UTSW |
14 |
51,129,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6953:Klhl33
|
UTSW |
14 |
51,128,973 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6998:Klhl33
|
UTSW |
14 |
51,130,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7545:Klhl33
|
UTSW |
14 |
51,130,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7985:Klhl33
|
UTSW |
14 |
51,128,962 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8370:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Klhl33
|
UTSW |
14 |
51,130,565 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8923:Klhl33
|
UTSW |
14 |
51,129,882 (GRCm39) |
nonsense |
probably null |
|
|
R9027:Klhl33
|
UTSW |
14 |
51,130,322 (GRCm39) |
nonsense |
probably null |
|
|
R9326:Klhl33
|
UTSW |
14 |
51,134,615 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9341:Klhl33
|
UTSW |
14 |
51,133,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Klhl33
|
UTSW |
14 |
51,133,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9354:Klhl33
|
UTSW |
14 |
51,130,385 (GRCm39) |
missense |
probably benign |
|
|
R9416:Klhl33
|
UTSW |
14 |
51,130,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9525:Klhl33
|
UTSW |
14 |
51,128,929 (GRCm39) |
missense |
probably null |
0.05 |
|
R9590:Klhl33
|
UTSW |
14 |
51,130,042 (GRCm39) |
missense |
probably benign |
|
|
R9657:Klhl33
|
UTSW |
14 |
51,134,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation