Incidental Mutation 'IGL01142:Klhl25'
| ID |
51654 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl25
|
| Ensembl Gene |
ENSMUSG00000055652 |
| Gene Name |
kelch-like 25 |
| Synonyms |
2810402K13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
IGL01142
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
75498086-75523881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75516344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 112
(Y112H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092073]
[ENSMUST00000171155]
[ENSMUST00000205612]
[ENSMUST00000205887]
[ENSMUST00000206019]
|
| AlphaFold |
Q8R2P1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092073
AA Change: Y417H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: Y417H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
46 |
144 |
2.43e-28 |
SMART |
|
BACK
|
149 |
251 |
1.06e-32 |
SMART |
|
Blast:BTB
|
256 |
294 |
1e-9 |
BLAST |
|
Kelch
|
296 |
340 |
1.4e0 |
SMART |
|
Kelch
|
341 |
388 |
6.71e-10 |
SMART |
|
Kelch
|
389 |
444 |
2.25e-11 |
SMART |
|
Kelch
|
445 |
492 |
1.22e-1 |
SMART |
|
Kelch
|
493 |
538 |
1.92e-5 |
SMART |
|
Kelch
|
539 |
585 |
1.4e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171155
AA Change: Y417H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: Y417H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
46 |
144 |
2.43e-28 |
SMART |
|
BACK
|
149 |
251 |
1.06e-32 |
SMART |
|
Blast:BTB
|
256 |
294 |
1e-9 |
BLAST |
|
Kelch
|
296 |
340 |
1.4e0 |
SMART |
|
Kelch
|
341 |
388 |
6.71e-10 |
SMART |
|
Kelch
|
389 |
444 |
2.25e-11 |
SMART |
|
Kelch
|
445 |
492 |
1.22e-1 |
SMART |
|
Kelch
|
493 |
538 |
1.92e-5 |
SMART |
|
Kelch
|
539 |
585 |
1.4e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205612
AA Change: Y112H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205887
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206019
AA Change: Y417H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206418
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc3 |
C |
T |
2: 19,302,709 (GRCm39) |
|
probably benign |
Het |
| Cacnb3 |
T |
A |
15: 98,539,883 (GRCm39) |
L269* |
probably null |
Het |
| Calu |
T |
C |
6: 29,366,207 (GRCm39) |
|
probably null |
Het |
| Cep97 |
A |
G |
16: 55,742,561 (GRCm39) |
S129P |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,303,196 (GRCm39) |
M620V |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,234,538 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,963,477 (GRCm39) |
K410R |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,571,297 (GRCm39) |
|
probably benign |
Het |
| Helb |
A |
T |
10: 119,947,049 (GRCm39) |
V88D |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,024,960 (GRCm39) |
E19G |
probably benign |
Het |
| Lin52 |
T |
C |
12: 84,503,009 (GRCm39) |
|
probably benign |
Het |
| Ms4a4c |
A |
G |
19: 11,403,614 (GRCm39) |
T157A |
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or7g17 |
A |
G |
9: 18,768,830 (GRCm39) |
N303S |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,931,765 (GRCm39) |
T472A |
probably benign |
Het |
| Sez6 |
T |
G |
11: 77,864,642 (GRCm39) |
V534G |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,786,767 (GRCm39) |
T333K |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem115 |
A |
G |
9: 107,411,844 (GRCm39) |
N56S |
possibly damaging |
Het |
| Ubac1 |
T |
C |
2: 25,896,580 (GRCm39) |
I150V |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,664,479 (GRCm39) |
K1455E |
possibly damaging |
Het |
| Yrdc |
T |
C |
4: 124,747,787 (GRCm39) |
F97L |
probably damaging |
Het |
|
| Other mutations in Klhl25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Klhl25
|
APN |
7 |
75,515,897 (GRCm39) |
nonsense |
probably null |
|
|
IGL01295:Klhl25
|
APN |
7 |
75,515,620 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02272:Klhl25
|
APN |
7 |
75,516,368 (GRCm39) |
missense |
probably benign |
|
|
IGL02721:Klhl25
|
APN |
7 |
75,516,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Klhl25
|
UTSW |
7 |
75,515,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Klhl25
|
UTSW |
7 |
75,516,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Klhl25
|
UTSW |
7 |
75,515,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0881:Klhl25
|
UTSW |
7 |
75,516,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Klhl25
|
UTSW |
7 |
75,516,268 (GRCm39) |
nonsense |
probably null |
|
|
R1228:Klhl25
|
UTSW |
7 |
75,515,868 (GRCm39) |
missense |
probably benign |
|
|
R1696:Klhl25
|
UTSW |
7 |
75,516,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Klhl25
|
UTSW |
7 |
75,516,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Klhl25
|
UTSW |
7 |
75,516,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4359:Klhl25
|
UTSW |
7 |
75,516,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Klhl25
|
UTSW |
7 |
75,515,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4431:Klhl25
|
UTSW |
7 |
75,515,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4717:Klhl25
|
UTSW |
7 |
75,516,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Klhl25
|
UTSW |
7 |
75,516,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4860:Klhl25
|
UTSW |
7 |
75,516,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5619:Klhl25
|
UTSW |
7 |
75,516,602 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5637:Klhl25
|
UTSW |
7 |
75,515,540 (GRCm39) |
splice site |
probably null |
|
|
R5652:Klhl25
|
UTSW |
7 |
75,515,895 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5840:Klhl25
|
UTSW |
7 |
75,516,440 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6693:Klhl25
|
UTSW |
7 |
75,516,561 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6723:Klhl25
|
UTSW |
7 |
75,515,739 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6875:Klhl25
|
UTSW |
7 |
75,516,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Klhl25
|
UTSW |
7 |
75,516,516 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8535:Klhl25
|
UTSW |
7 |
75,515,843 (GRCm39) |
missense |
probably benign |
|
|
R8712:Klhl25
|
UTSW |
7 |
75,515,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8768:Klhl25
|
UTSW |
7 |
75,516,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Klhl25
|
UTSW |
7 |
75,516,391 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9033:Klhl25
|
UTSW |
7 |
75,516,681 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9046:Klhl25
|
UTSW |
7 |
75,515,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Klhl25
|
UTSW |
7 |
75,515,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9480:Klhl25
|
UTSW |
7 |
75,516,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9601:Klhl25
|
UTSW |
7 |
75,515,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Klhl25
|
UTSW |
7 |
75,516,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Klhl25
|
UTSW |
7 |
75,515,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2013-06-21 |
Incidental Mutation