Incidental Mutation 'R3699:Klhl18'
ID |
269922 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl18
|
Ensembl Gene |
ENSMUSG00000054792 |
Gene Name |
kelch-like 18 |
Synonyms |
|
MMRRC Submission |
040692-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3699 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110265134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 291
(Y291H)
|
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: Y356H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000069674 Gene: ENSMUSG00000054792 AA Change: Y356H
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: Y361H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000107565 Gene: ENSMUSG00000054792 AA Change: Y361H
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: Y361H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000143634 Gene: ENSMUSG00000054792 AA Change: Y361H
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: Y291H
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143384 Gene: ENSMUSG00000054792 AA Change: Y291H
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
|
Meta Mutation Damage Score |
0.8351 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Atp1b2 |
G |
A |
11: 69,496,095 (GRCm39) |
T35I |
probably benign |
Het |
Baz1a |
A |
G |
12: 54,963,831 (GRCm39) |
V751A |
probably benign |
Het |
Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
Chd2 |
G |
T |
7: 73,118,238 (GRCm39) |
L1127I |
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,950,797 (GRCm39) |
L292P |
probably damaging |
Het |
Dst |
T |
C |
1: 34,252,155 (GRCm39) |
|
probably benign |
Het |
Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
Gm8229 |
T |
A |
14: 44,603,984 (GRCm39) |
S58T |
unknown |
Het |
Gucy2c |
A |
T |
6: 136,747,109 (GRCm39) |
C117S |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lamc1 |
G |
T |
1: 153,130,951 (GRCm39) |
S333R |
possibly damaging |
Het |
Lbr |
T |
C |
1: 181,646,485 (GRCm39) |
Y479C |
probably damaging |
Het |
Nampt |
T |
C |
12: 32,898,758 (GRCm39) |
|
probably benign |
Het |
Or10am5 |
A |
G |
7: 6,517,993 (GRCm39) |
M145T |
probably damaging |
Het |
Pcnx3 |
G |
T |
19: 5,722,493 (GRCm39) |
R1400S |
probably damaging |
Het |
Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
Polq |
C |
A |
16: 36,862,518 (GRCm39) |
S338Y |
probably damaging |
Het |
Pramel26 |
A |
G |
4: 143,536,922 (GRCm39) |
S470P |
probably benign |
Het |
Rassf8 |
T |
C |
6: 145,765,802 (GRCm39) |
|
probably benign |
Het |
Rere |
A |
T |
4: 150,561,819 (GRCm39) |
|
probably null |
Het |
Rps6kb1 |
A |
G |
11: 86,423,620 (GRCm39) |
F120S |
probably damaging |
Het |
Scarf1 |
G |
T |
11: 75,405,195 (GRCm39) |
C78F |
probably damaging |
Het |
Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
Trpv4 |
A |
G |
5: 114,772,861 (GRCm39) |
S243P |
probably damaging |
Het |
Whrn |
A |
T |
4: 63,379,649 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
G |
T |
18: 13,979,330 (GRCm39) |
S361* |
probably null |
Het |
Zfyve19 |
A |
G |
2: 119,041,720 (GRCm39) |
T96A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGACAAGGCAGGTATTTTATGC -3'
(R):5'- GCAGGTGATTCCCTGAATGTGG -3'
Sequencing Primer
(F):5'- CAAGGCAGGTATTTTATGCTTAAGC -3'
(R):5'- GTGGAAGTGTTCGACCCTATC -3'
|
Posted On |
2015-03-18 |