Incidental Mutation 'IGL01338:Klhl18'
| ID |
74726 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl18
|
| Ensembl Gene |
ENSMUSG00000054792 |
| Gene Name |
kelch-like 18 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110284501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 62
(Y62H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068025]
[ENSMUST00000198164]
[ENSMUST00000198400]
|
| AlphaFold |
E9Q4F2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068025
AA Change: Y62H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: Y62H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
38 |
135 |
1.32e-29 |
SMART |
|
BACK
|
140 |
242 |
1.67e-39 |
SMART |
|
Kelch
|
289 |
336 |
1.78e-14 |
SMART |
|
Kelch
|
337 |
383 |
2.64e-17 |
SMART |
|
Kelch
|
384 |
430 |
2.18e-18 |
SMART |
|
Kelch
|
431 |
477 |
9.27e-13 |
SMART |
|
Kelch
|
478 |
524 |
3.34e-5 |
SMART |
|
Kelch
|
525 |
571 |
1.22e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111934
AA Change: Y62H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107565
Gene: ENSMUSG00000054792
AA Change: Y62H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
38 |
135 |
1.32e-29 |
SMART |
|
BACK
|
140 |
242 |
1.67e-39 |
SMART |
|
Kelch
|
289 |
341 |
8.52e-12 |
SMART |
|
Kelch
|
342 |
388 |
2.64e-17 |
SMART |
|
Kelch
|
389 |
435 |
2.18e-18 |
SMART |
|
Kelch
|
436 |
482 |
9.27e-13 |
SMART |
|
Kelch
|
483 |
529 |
3.34e-5 |
SMART |
|
Kelch
|
530 |
576 |
1.22e-12 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197336
AA Change: Y60H
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198164
AA Change: Y62H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: Y62H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
38 |
135 |
1.32e-29 |
SMART |
|
BACK
|
140 |
242 |
1.67e-39 |
SMART |
|
Kelch
|
289 |
341 |
8.52e-12 |
SMART |
|
Kelch
|
342 |
388 |
2.64e-17 |
SMART |
|
Kelch
|
389 |
435 |
2.18e-18 |
SMART |
|
Kelch
|
436 |
482 |
9.27e-13 |
SMART |
|
Kelch
|
483 |
529 |
3.34e-5 |
SMART |
|
Kelch
|
530 |
576 |
1.22e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198400
|
| SMART Domains |
Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
1 |
70 |
2.1e-15 |
PFAM |
|
BACK
|
75 |
177 |
1.67e-39 |
SMART |
|
Kelch
|
224 |
271 |
1.78e-14 |
SMART |
|
Kelch
|
272 |
318 |
2.64e-17 |
SMART |
|
Kelch
|
319 |
365 |
2.18e-18 |
SMART |
|
Kelch
|
366 |
412 |
9.27e-13 |
SMART |
|
Kelch
|
413 |
459 |
3.34e-5 |
SMART |
|
Kelch
|
460 |
506 |
1.22e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200256
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
G |
1: 63,591,014 (GRCm39) |
T494A |
possibly damaging |
Het |
| Adamts16 |
C |
T |
13: 70,984,234 (GRCm39) |
C143Y |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,232,581 (GRCm39) |
I195V |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,392,896 (GRCm39) |
S17P |
probably benign |
Het |
| Cfap298 |
T |
C |
16: 90,722,936 (GRCm39) |
N266S |
possibly damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,951,640 (GRCm39) |
S48C |
possibly damaging |
Het |
| Cyp2b19 |
G |
T |
7: 26,458,842 (GRCm39) |
M138I |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,518,611 (GRCm39) |
Y510C |
possibly damaging |
Het |
| Derl2 |
A |
G |
11: 70,901,181 (GRCm39) |
F229S |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,949,979 (GRCm39) |
E452G |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,180,214 (GRCm39) |
K180E |
probably benign |
Het |
| Dus1l |
G |
A |
11: 120,683,918 (GRCm39) |
R177C |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,813,020 (GRCm39) |
I167V |
probably damaging |
Het |
| Fam219b |
A |
T |
9: 57,445,305 (GRCm39) |
|
probably null |
Het |
| Fn1 |
T |
C |
1: 71,665,369 (GRCm39) |
E916G |
probably damaging |
Het |
| Gm2058 |
C |
T |
7: 39,238,580 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd1 |
T |
A |
15: 99,616,056 (GRCm39) |
V22E |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,377,475 (GRCm39) |
F124L |
probably damaging |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,336 (GRCm39) |
|
probably benign |
Het |
| Igfbp3 |
A |
T |
11: 7,158,478 (GRCm39) |
F262I |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 27,064,268 (GRCm39) |
E1238K |
probably benign |
Het |
| Man1b1 |
A |
G |
2: 25,228,239 (GRCm39) |
K170E |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,147,382 (GRCm39) |
I39N |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,026,587 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
C |
A |
7: 99,462,629 (GRCm39) |
G365W |
probably damaging |
Het |
| Nipal3 |
A |
C |
4: 135,199,194 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
A |
G |
12: 89,221,804 (GRCm39) |
I528V |
possibly damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,730 (GRCm39) |
H71L |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,103,608 (GRCm39) |
K204R |
probably damaging |
Het |
| Pax8 |
A |
G |
2: 24,325,931 (GRCm39) |
S318P |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,590 (GRCm39) |
N242Y |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,786,259 (GRCm39) |
K649* |
probably null |
Het |
| Ppm1n |
A |
T |
7: 19,013,179 (GRCm39) |
D257E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,052,796 (GRCm39) |
E811G |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
| Rtkn2 |
G |
T |
10: 67,861,349 (GRCm39) |
C258F |
possibly damaging |
Het |
| Scn11a |
G |
A |
9: 119,613,227 (GRCm39) |
|
probably benign |
Het |
| Snx8 |
G |
A |
5: 140,343,851 (GRCm39) |
R96C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,107,000 (GRCm39) |
T5649S |
possibly damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,344,970 (GRCm39) |
C82* |
probably null |
Het |
| Tnpo2 |
T |
C |
8: 85,767,155 (GRCm39) |
L55P |
probably damaging |
Het |
| Tsc22d2 |
T |
C |
3: 58,324,836 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
G |
6: 113,371,690 (GRCm39) |
V19G |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,119 (GRCm39) |
I86V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,814,892 (GRCm39) |
T3153I |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,636 (GRCm39) |
I753T |
probably damaging |
Het |
|
| Other mutations in Klhl18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Klhl18
|
APN |
9 |
110,257,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Klhl18
|
APN |
9 |
110,261,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Klhl18
|
APN |
9 |
110,257,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01960:Klhl18
|
APN |
9 |
110,279,814 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02195:Klhl18
|
APN |
9 |
110,267,970 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02430:Klhl18
|
APN |
9 |
110,266,469 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02629:Klhl18
|
APN |
9 |
110,259,006 (GRCm39) |
splice site |
probably benign |
|
|
Mixie
|
UTSW |
9 |
110,265,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0389:Klhl18
|
UTSW |
9 |
110,257,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1538:Klhl18
|
UTSW |
9 |
110,275,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Klhl18
|
UTSW |
9 |
110,266,469 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1966:Klhl18
|
UTSW |
9 |
110,305,658 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2099:Klhl18
|
UTSW |
9 |
110,284,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3699:Klhl18
|
UTSW |
9 |
110,265,134 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3911:Klhl18
|
UTSW |
9 |
110,265,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Klhl18
|
UTSW |
9 |
110,257,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4197:Klhl18
|
UTSW |
9 |
110,259,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4500:Klhl18
|
UTSW |
9 |
110,259,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Klhl18
|
UTSW |
9 |
110,258,029 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5296:Klhl18
|
UTSW |
9 |
110,265,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5298:Klhl18
|
UTSW |
9 |
110,265,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5301:Klhl18
|
UTSW |
9 |
110,265,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5407:Klhl18
|
UTSW |
9 |
110,265,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5433:Klhl18
|
UTSW |
9 |
110,265,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5641:Klhl18
|
UTSW |
9 |
110,275,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Klhl18
|
UTSW |
9 |
110,257,795 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6279:Klhl18
|
UTSW |
9 |
110,265,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6300:Klhl18
|
UTSW |
9 |
110,265,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6425:Klhl18
|
UTSW |
9 |
110,275,749 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6465:Klhl18
|
UTSW |
9 |
110,257,988 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6521:Klhl18
|
UTSW |
9 |
110,257,703 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6587:Klhl18
|
UTSW |
9 |
110,284,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Klhl18
|
UTSW |
9 |
110,257,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7110:Klhl18
|
UTSW |
9 |
110,279,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7492:Klhl18
|
UTSW |
9 |
110,257,843 (GRCm39) |
nonsense |
probably null |
|
|
R7580:Klhl18
|
UTSW |
9 |
110,265,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7598:Klhl18
|
UTSW |
9 |
110,275,878 (GRCm39) |
nonsense |
probably null |
|
|
R7789:Klhl18
|
UTSW |
9 |
110,268,076 (GRCm39) |
missense |
unknown |
|
|
R7988:Klhl18
|
UTSW |
9 |
110,305,577 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8050:Klhl18
|
UTSW |
9 |
110,257,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Klhl18
|
UTSW |
9 |
110,266,415 (GRCm39) |
missense |
probably null |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation