Incidental Mutation 'R4500:Klhl18'
| ID |
331789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl18
|
| Ensembl Gene |
ENSMUSG00000054792 |
| Gene Name |
kelch-like 18 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110259034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 445
(G445S)
|
| 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: G440S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: G440S
| 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 damaging
Transcript: ENSMUST00000198164
AA Change: G445S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: G445S
| 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: G375S
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: G375S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
A |
16: 88,556,429 (GRCm39) |
C214* |
probably null |
Het |
| Ap3s1 |
T |
C |
18: 46,923,067 (GRCm39) |
V186A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
| Duxf4 |
C |
T |
10: 58,071,528 (GRCm39) |
A229T |
possibly damaging |
Het |
| Fam83d |
A |
G |
2: 158,627,187 (GRCm39) |
E292G |
probably benign |
Het |
| Hook1 |
T |
C |
4: 95,881,437 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
C |
5: 24,753,275 (GRCm39) |
D459G |
possibly damaging |
Het |
| Or14a257 |
A |
T |
7: 86,138,127 (GRCm39) |
C211S |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,402 (GRCm39) |
S279P |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,734 (GRCm39) |
R259W |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,509,038 (GRCm39) |
S104P |
probably benign |
Het |
| Tmem239 |
A |
G |
2: 130,249,077 (GRCm39) |
Y145C |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,143,163 (GRCm39) |
F215L |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,513,759 (GRCm39) |
E785K |
possibly damaging |
Het |
| Vmn2r66 |
G |
A |
7: 84,657,162 (GRCm39) |
A81V |
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 |
|
|
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'- ATGCCTTTACCCAGAAGTGG -3'
(R):5'- GATGCATCTGAGACTTGGGG -3'
Sequencing Primer
(F):5'- CCAGAAGTGGCGGGGTTG -3'
(R):5'- TGAGAAGATCTGAAACTCTCCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation