Incidental Mutation 'IGL01455:Klhl18'
ID |
84745 |
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 # |
IGL01455
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110261511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 411
(E411G)
|
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: E406G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069674 Gene: ENSMUSG00000054792 AA Change: E406G
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: E411G
PolyPhen 2
Score 0.990 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107565 Gene: ENSMUSG00000054792 AA Change: E411G
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: ENSMUST00000197336
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198164
AA Change: E411G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143634 Gene: ENSMUSG00000054792 AA Change: E411G
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 |
noncoding transcript
Transcript: ENSMUST00000198327
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198400
AA Change: E341G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143384 Gene: ENSMUSG00000054792 AA Change: E341G
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 |
noncoding transcript
Transcript: ENSMUST00000199700
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200256
|
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 |
Acsl6 |
A |
G |
11: 54,214,131 (GRCm39) |
D87G |
possibly damaging |
Het |
Adgra3 |
G |
A |
5: 50,144,899 (GRCm39) |
R565* |
probably null |
Het |
Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
Arb2a |
A |
T |
13: 78,050,766 (GRCm39) |
|
probably benign |
Het |
B3gnt2 |
A |
T |
11: 22,787,042 (GRCm39) |
W49R |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,426,511 (GRCm39) |
K137N |
possibly damaging |
Het |
Ccdc117 |
G |
T |
11: 5,484,297 (GRCm39) |
T181K |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,033,277 (GRCm39) |
K756E |
possibly damaging |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cyp2c29 |
T |
A |
19: 39,317,561 (GRCm39) |
I349K |
possibly damaging |
Het |
Dcaf15 |
T |
C |
8: 84,825,219 (GRCm39) |
T434A |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,441,451 (GRCm39) |
I106V |
probably benign |
Het |
Eps8l1 |
T |
A |
7: 4,481,922 (GRCm39) |
|
probably benign |
Het |
Erbin |
G |
T |
13: 103,995,895 (GRCm39) |
P269Q |
probably damaging |
Het |
Fbxw22 |
C |
T |
9: 109,214,062 (GRCm39) |
M251I |
probably benign |
Het |
Fgd4 |
T |
A |
16: 16,308,354 (GRCm39) |
T9S |
probably benign |
Het |
Haus8 |
T |
C |
8: 71,705,875 (GRCm39) |
I270V |
probably benign |
Het |
Herc4 |
T |
A |
10: 63,121,922 (GRCm39) |
|
probably null |
Het |
Hspg2 |
G |
A |
4: 137,281,128 (GRCm39) |
V3367M |
probably damaging |
Het |
Htr1f |
A |
T |
16: 64,746,385 (GRCm39) |
F302L |
probably damaging |
Het |
Inpp5f |
T |
C |
7: 128,279,773 (GRCm39) |
C458R |
probably damaging |
Het |
Krt20 |
A |
T |
11: 99,322,769 (GRCm39) |
F289I |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,355,065 (GRCm39) |
|
probably null |
Het |
Nav1 |
T |
C |
1: 135,397,373 (GRCm39) |
D932G |
probably benign |
Het |
Nme4 |
A |
T |
17: 26,311,036 (GRCm39) |
D176E |
probably benign |
Het |
Nox4 |
C |
T |
7: 87,025,424 (GRCm39) |
S517L |
possibly damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,368 (GRCm39) |
L258H |
probably damaging |
Het |
Pate8 |
T |
A |
9: 36,492,659 (GRCm39) |
H82L |
probably benign |
Het |
Pip5k1a |
T |
C |
3: 94,975,471 (GRCm39) |
D333G |
probably benign |
Het |
Polb |
T |
C |
8: 23,143,088 (GRCm39) |
Y36C |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,030,877 (GRCm39) |
I953T |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,659,686 (GRCm39) |
D1071E |
probably damaging |
Het |
Stxbp3-ps |
T |
C |
19: 9,535,371 (GRCm39) |
|
noncoding transcript |
Het |
Tmcc3 |
A |
T |
10: 94,422,617 (GRCm39) |
I356F |
probably damaging |
Het |
Tmem262 |
G |
T |
19: 6,130,189 (GRCm39) |
R6L |
probably damaging |
Het |
Tnks |
C |
A |
8: 35,408,054 (GRCm39) |
V225L |
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 |
IGL01338:Klhl18
|
APN |
9 |
110,284,501 (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 |
2013-11-11 |