Incidental Mutation 'IGL01965:Klhl33'
| ID |
182496 |
| 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 # |
IGL01965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51126038-51134940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51129187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 681
(Y681H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164415]
[ENSMUST00000170855]
[ENSMUST00000227271]
|
| AlphaFold |
A0A2I3BRZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164415
AA Change: Y421H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: Y421H
| 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: Y681H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
| Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
| Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,777,842 (GRCm39) |
I1121T |
probably benign |
Het |
| Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,165,418 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
| Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
| Itpkb |
C |
A |
1: 180,159,970 (GRCm39) |
T32K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,594,371 (GRCm39) |
|
probably benign |
Het |
| Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,050,173 (GRCm39) |
W319R |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,855,317 (GRCm39) |
K514I |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,463,023 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
T |
16: 93,922,037 (GRCm39) |
Y294F |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
possibly damaging |
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 |
|
IGL02804:Klhl33
|
APN |
14 |
51,130,411 (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 |
2014-05-07 |
Incidental Mutation