Incidental Mutation 'R6521:Klhl18'
ID |
521284 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl18
|
Ensembl Gene |
ENSMUSG00000054792 |
Gene Name |
kelch-like 18 |
Synonyms |
|
MMRRC Submission |
044647-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6521 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110257703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 509
(I509T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143384
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068025]
[ENSMUST00000198164]
[ENSMUST00000198400]
|
AlphaFold |
E9Q4F2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068025
AA Change: I574T
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000069674 Gene: ENSMUSG00000054792 AA Change: I574T
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 |
possibly damaging
Transcript: ENSMUST00000198164
AA Change: I579T
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143634 Gene: ENSMUSG00000054792 AA Change: I579T
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 |
possibly damaging
Transcript: ENSMUST00000198400
AA Change: I509T
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143384 Gene: ENSMUSG00000054792 AA Change: I509T
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,769,968 (GRCm39) |
S356T |
probably benign |
Het |
Acsbg2 |
T |
C |
17: 57,168,565 (GRCm39) |
M185V |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,581,771 (GRCm39) |
F4758I |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,828,596 (GRCm39) |
|
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Ano4 |
A |
G |
10: 88,819,640 (GRCm39) |
V537A |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,237,288 (GRCm39) |
L204P |
probably damaging |
Het |
Cdh20 |
A |
C |
1: 104,869,859 (GRCm39) |
D193A |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,484,756 (GRCm39) |
|
probably null |
Het |
Celf4 |
T |
A |
18: 25,612,531 (GRCm39) |
|
probably null |
Het |
Cfap91 |
A |
G |
16: 38,127,121 (GRCm39) |
V545A |
probably benign |
Het |
Crebbp |
A |
T |
16: 3,936,992 (GRCm39) |
F754I |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,145,415 (GRCm39) |
I635N |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,081,689 (GRCm39) |
D1131V |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Hoxc8 |
G |
A |
15: 102,901,135 (GRCm39) |
V193M |
probably benign |
Het |
Klhdc3 |
A |
G |
17: 46,988,687 (GRCm39) |
V124A |
probably benign |
Het |
Mdfic |
T |
A |
6: 15,729,027 (GRCm39) |
|
probably benign |
Het |
Mkln1 |
T |
A |
6: 31,467,479 (GRCm39) |
D64E |
probably damaging |
Het |
Mmd2 |
A |
G |
5: 142,560,585 (GRCm39) |
I112T |
probably damaging |
Het |
Mpl |
C |
T |
4: 118,312,314 (GRCm39) |
|
probably null |
Het |
Mtmr4 |
A |
G |
11: 87,504,353 (GRCm39) |
T1044A |
possibly damaging |
Het |
Muc5b |
C |
A |
7: 141,412,908 (GRCm39) |
Y1951* |
probably null |
Het |
Myo15a |
C |
T |
11: 60,393,195 (GRCm39) |
H2240Y |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 126,309,909 (GRCm39) |
I74K |
probably damaging |
Het |
Nfxl1 |
A |
T |
5: 72,697,651 (GRCm39) |
|
probably null |
Het |
Or11j4 |
T |
C |
14: 50,631,005 (GRCm39) |
V264A |
possibly damaging |
Het |
Or2ah1 |
A |
T |
2: 85,653,794 (GRCm39) |
I160F |
probably benign |
Het |
Or4c11c |
A |
G |
2: 88,661,700 (GRCm39) |
I80V |
probably benign |
Het |
Or8d2 |
C |
T |
9: 38,759,893 (GRCm39) |
T161I |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,154,399 (GRCm39) |
Y2460C |
probably damaging |
Het |
Pigx |
A |
G |
16: 31,906,129 (GRCm39) |
L64P |
probably damaging |
Het |
Prss1 |
C |
T |
6: 41,440,615 (GRCm39) |
T230I |
probably damaging |
Het |
Ptma |
A |
G |
1: 86,455,569 (GRCm39) |
|
probably null |
Het |
Rab39 |
T |
C |
9: 53,617,331 (GRCm39) |
T29A |
probably benign |
Het |
Rem2 |
C |
T |
14: 54,715,144 (GRCm39) |
A107V |
possibly damaging |
Het |
Senp1 |
A |
G |
15: 97,946,152 (GRCm39) |
V531A |
probably damaging |
Het |
Serhl |
A |
G |
15: 82,985,843 (GRCm39) |
|
probably null |
Het |
Sirpa |
T |
G |
2: 129,472,075 (GRCm39) |
Y164D |
probably damaging |
Het |
Slc12a3 |
T |
C |
8: 95,069,741 (GRCm39) |
I550T |
possibly damaging |
Het |
Slc22a14 |
T |
C |
9: 119,049,835 (GRCm39) |
|
probably null |
Het |
Slfn5 |
A |
G |
11: 82,851,241 (GRCm39) |
N513D |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
Swap70 |
T |
C |
7: 109,855,027 (GRCm39) |
L109P |
probably benign |
Het |
Tas2r119 |
G |
A |
15: 32,178,319 (GRCm39) |
C295Y |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,570,172 (GRCm39) |
I527L |
probably damaging |
Het |
Traj31 |
A |
G |
14: 54,425,387 (GRCm39) |
|
probably benign |
Het |
Unc5a |
T |
A |
13: 55,152,748 (GRCm39) |
D887E |
probably benign |
Het |
Zfp407 |
T |
A |
18: 84,450,536 (GRCm39) |
H1600L |
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 |
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'- CAACCTAAGGTCACAAGGGC -3'
(R):5'- GTGTCTCATAGTACCCATGCAC -3'
Sequencing Primer
(F):5'- CTAAGGTCACAAGGGCAGCAC -3'
(R):5'- ATGCACACACGCCGGAG -3'
|
Posted On |
2018-06-06 |