Incidental Mutation 'IGL02430:Klhl18'
| ID |
293088 |
| 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 # |
IGL02430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110266469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 217
(C217S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068025]
[ENSMUST00000198164]
[ENSMUST00000198400]
|
| AlphaFold |
E9Q4F2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068025
AA Change: C282S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: C282S
| 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 benign
Transcript: ENSMUST00000111934
AA Change: C282S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107565
Gene: ENSMUSG00000054792
AA Change: C282S
| 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 benign
Transcript: ENSMUST00000198164
AA Change: C282S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: C282S
| 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 benign
Transcript: ENSMUST00000198400
AA Change: C217S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: C217S
| 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 |
unknown
Transcript: ENSMUST00000200256
AA Change: C163S
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap33 |
T |
C |
7: 30,222,185 (GRCm39) |
E1249G |
probably benign |
Het |
| C8a |
G |
A |
4: 104,674,719 (GRCm39) |
T540I |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,136,701 (GRCm39) |
W388L |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,822,160 (GRCm39) |
Y114* |
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,710,530 (GRCm39) |
V337A |
probably benign |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,139 (GRCm39) |
K275E |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,178 (GRCm39) |
V414A |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,815,403 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,367,200 (GRCm39) |
R198* |
probably null |
Het |
| Gpaa1 |
T |
C |
15: 76,216,388 (GRCm39) |
S36P |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,971 (GRCm39) |
V532A |
probably damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,846,175 (GRCm39) |
Y925F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,027,797 (GRCm39) |
I871V |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,409 (GRCm39) |
S168P |
possibly damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,608 (GRCm39) |
I211V |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 107,994,929 (GRCm39) |
I201F |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,966,096 (GRCm39) |
N754K |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,470,810 (GRCm39) |
M442K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,443,056 (GRCm39) |
N28S |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,767,477 (GRCm39) |
Y242C |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,325,477 (GRCm39) |
K4E |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,266,735 (GRCm39) |
T774S |
probably benign |
Het |
| Selp |
C |
A |
1: 163,953,952 (GRCm39) |
P84Q |
probably damaging |
Het |
| Sh3bp4 |
T |
A |
1: 89,080,885 (GRCm39) |
W901R |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,426,305 (GRCm39) |
Y527H |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,068,601 (GRCm39) |
|
probably null |
Het |
| Spidr |
C |
T |
16: 15,932,774 (GRCm39) |
D169N |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,630 (GRCm39) |
L183P |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,817,143 (GRCm39) |
T233I |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,856,667 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,464,634 (GRCm39) |
I231N |
probably damaging |
Het |
| Ubl3 |
A |
T |
5: 148,488,766 (GRCm39) |
D8E |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,150,295 (GRCm39) |
I465M |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,158 (GRCm39) |
I251T |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,085 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,238,140 (GRCm39) |
Y195H |
probably damaging |
Het |
| Wdr27 |
A |
C |
17: 15,122,062 (GRCm39) |
S615A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,792 (GRCm39) |
L114H |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,414,113 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation