Incidental Mutation 'R7580:Klhl18'
ID |
586697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl18
|
Ensembl Gene |
ENSMUSG00000054792 |
Gene Name |
kelch-like 18 |
Synonyms |
|
MMRRC Submission |
045664-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7580 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110265118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 366
(D366G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143634
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068025]
[ENSMUST00000198164]
[ENSMUST00000198400]
|
AlphaFold |
E9Q4F2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068025
AA Change: D361G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000069674 Gene: ENSMUSG00000054792 AA Change: D361G
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: ENSMUST00000197336
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198164
AA Change: D366G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000143634 Gene: ENSMUSG00000054792 AA Change: D366G
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
AA Change: D296G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000143384 Gene: ENSMUSG00000054792 AA Change: D296G
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
|
Meta Mutation Damage Score |
0.0762 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
A |
13: 60,993,040 (GRCm39) |
Y213F |
probably damaging |
Het |
Adamdec1 |
A |
G |
14: 68,802,980 (GRCm39) |
S462P |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 85,972,301 (GRCm39) |
C3S |
possibly damaging |
Het |
Bag1 |
C |
T |
4: 40,947,836 (GRCm39) |
E123K |
probably benign |
Het |
Brip1 |
A |
G |
11: 86,048,427 (GRCm39) |
L305P |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,206,700 (GRCm39) |
I382F |
possibly damaging |
Het |
Cfap52 |
T |
A |
11: 67,837,146 (GRCm39) |
K205I |
probably damaging |
Het |
Cmtr2 |
T |
A |
8: 110,948,309 (GRCm39) |
N206K |
probably damaging |
Het |
Defb34 |
G |
A |
8: 19,176,426 (GRCm39) |
C39Y |
possibly damaging |
Het |
Dennd3 |
T |
C |
15: 73,428,296 (GRCm39) |
S881P |
possibly damaging |
Het |
Dglucy |
C |
T |
12: 100,816,423 (GRCm39) |
A325V |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,994,077 (GRCm39) |
E3398G |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,183,130 (GRCm39) |
I96K |
probably damaging |
Het |
Endov |
C |
T |
11: 119,390,692 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
A |
T |
15: 58,430,245 (GRCm39) |
Q224L |
probably benign |
Het |
Fmo2 |
T |
C |
1: 162,704,613 (GRCm39) |
N431S |
possibly damaging |
Het |
Gata3 |
A |
C |
2: 9,867,943 (GRCm39) |
V337G |
probably damaging |
Het |
Gtse1 |
G |
A |
15: 85,746,432 (GRCm39) |
V83M |
probably damaging |
Het |
Hgd |
C |
A |
16: 37,439,241 (GRCm39) |
P224H |
possibly damaging |
Het |
Kcnh6 |
T |
C |
11: 105,908,374 (GRCm39) |
V330A |
probably damaging |
Het |
Kiz |
C |
G |
2: 146,798,169 (GRCm39) |
I631M |
probably damaging |
Het |
Lrmda |
C |
T |
14: 22,069,925 (GRCm39) |
|
probably benign |
Het |
Mc1r |
G |
T |
8: 124,134,906 (GRCm39) |
A220S |
probably damaging |
Het |
Megf6 |
T |
A |
4: 154,355,201 (GRCm39) |
C1505* |
probably null |
Het |
Mmp20 |
C |
T |
9: 7,654,144 (GRCm39) |
R355* |
probably null |
Het |
Mmp28 |
T |
A |
11: 83,335,658 (GRCm39) |
Q280L |
probably damaging |
Het |
Mppe1 |
C |
T |
18: 67,370,488 (GRCm39) |
A70T |
probably damaging |
Het |
Mtif3 |
T |
G |
5: 146,895,757 (GRCm39) |
D110A |
possibly damaging |
Het |
Mtss2 |
G |
A |
8: 111,464,268 (GRCm39) |
R361H |
possibly damaging |
Het |
Mvp |
T |
C |
7: 126,591,483 (GRCm39) |
D542G |
probably damaging |
Het |
Nlrp5 |
T |
C |
7: 23,133,174 (GRCm39) |
C940R |
probably damaging |
Het |
Nmur2 |
C |
T |
11: 55,917,808 (GRCm39) |
V394I |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,965,624 (GRCm39) |
H1736R |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,934 (GRCm39) |
I266T |
probably benign |
Het |
Pira13 |
A |
T |
7: 3,827,611 (GRCm39) |
F182Y |
unknown |
Het |
Purg |
A |
G |
8: 33,906,661 (GRCm39) |
Y317C |
possibly damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,765,013 (GRCm39) |
M880L |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,447,293 (GRCm39) |
F413L |
possibly damaging |
Het |
Sart3 |
A |
T |
5: 113,892,440 (GRCm39) |
|
probably null |
Het |
Scaf4 |
G |
A |
16: 90,026,740 (GRCm39) |
Q1026* |
probably null |
Het |
Slc26a1 |
A |
G |
5: 108,819,735 (GRCm39) |
L504P |
probably damaging |
Het |
Slc35d1 |
C |
A |
4: 103,065,330 (GRCm39) |
V184L |
|
Het |
Slc5a11 |
C |
T |
7: 122,864,421 (GRCm39) |
A339V |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,705,028 (GRCm39) |
M1780K |
probably benign |
Het |
Tas1r2 |
G |
A |
4: 139,387,056 (GRCm39) |
D172N |
probably benign |
Het |
Tasor |
A |
G |
14: 27,188,243 (GRCm39) |
I896M |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,624,752 (GRCm39) |
P1733S |
probably damaging |
Het |
Thoc1 |
A |
T |
18: 9,986,343 (GRCm39) |
K358N |
probably damaging |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Ttll8 |
A |
C |
15: 88,818,132 (GRCm39) |
L181R |
probably damaging |
Het |
Ubl4b |
G |
A |
3: 107,461,784 (GRCm39) |
Q159* |
probably null |
Het |
Xrn1 |
A |
G |
9: 95,893,732 (GRCm39) |
H967R |
not run |
Het |
Zeb2 |
T |
C |
2: 44,884,544 (GRCm39) |
D1049G |
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 |
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 |
|
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'- AAAGGACAAGGCAGGTATTTTATGC -3'
(R):5'- TGCAGGTGATTCCCTGAATG -3'
Sequencing Primer
(F):5'- CAAGGCAGGTATTTTATGCTTAAGC -3'
(R):5'- ATTCCCTGAATGTGGTGGAAG -3'
|
Posted On |
2019-10-24 |