Incidental Mutation 'R7598:Klhl18'
| ID |
587845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl18
|
| Ensembl Gene |
ENSMUSG00000054792 |
| Gene Name |
kelch-like 18 |
| Synonyms |
|
| MMRRC Submission |
045641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 110275878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 155
(L155*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068025]
[ENSMUST00000198164]
[ENSMUST00000198400]
|
| AlphaFold |
E9Q4F2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068025
AA Change: L155*
|
| SMART Domains |
Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: L155*
| 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 null
Transcript: ENSMUST00000198164
AA Change: L155*
|
| SMART Domains |
Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: L155*
| 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 null
Transcript: ENSMUST00000198400
AA Change: L90*
|
| SMART Domains |
Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: L90*
| 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 null
Transcript: ENSMUST00000200256
AA Change: L36*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,480,370 (GRCm39) |
S234G |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,077 (GRCm39) |
N176K |
possibly damaging |
Het |
| AI661453 |
T |
C |
17: 47,777,045 (GRCm39) |
V257A |
unknown |
Het |
| Alpk2 |
T |
A |
18: 65,437,637 (GRCm39) |
K1252M |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,767,445 (GRCm39) |
T159A |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,576,308 (GRCm39) |
N447S |
probably benign |
Het |
| Apoc4 |
A |
G |
7: 19,415,265 (GRCm39) |
V14A |
probably benign |
Het |
| Arfgef2 |
A |
C |
2: 166,698,444 (GRCm39) |
Q638P |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,761,090 (GRCm39) |
F980L |
possibly damaging |
Het |
| Arhgap27 |
G |
A |
11: 103,224,879 (GRCm39) |
R459* |
probably null |
Het |
| Arhgef15 |
A |
T |
11: 68,837,236 (GRCm39) |
L785Q |
probably damaging |
Het |
| B3gnt7 |
T |
C |
1: 86,233,500 (GRCm39) |
F249L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,278 (GRCm39) |
E233G |
possibly damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,349,006 (GRCm39) |
Q279K |
probably benign |
Het |
| Cilp2 |
A |
G |
8: 70,338,682 (GRCm39) |
C134R |
probably benign |
Het |
| Clec4b1 |
G |
A |
6: 123,048,427 (GRCm39) |
W187* |
probably null |
Het |
| Ddx11 |
G |
A |
17: 66,437,541 (GRCm39) |
|
probably null |
Het |
| Dhrs7c |
A |
T |
11: 67,702,279 (GRCm39) |
|
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,921,435 (GRCm39) |
H1387Q |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,772,235 (GRCm39) |
N148S |
probably damaging |
Het |
| Hs6st3 |
T |
A |
14: 120,106,750 (GRCm39) |
V386E |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,639,334 (GRCm39) |
R413Q |
possibly damaging |
Het |
| Kcnj4 |
T |
C |
15: 79,369,965 (GRCm39) |
N5S |
probably benign |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lzts2 |
G |
T |
19: 45,012,272 (GRCm39) |
G234* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,412 (GRCm39) |
F503L |
possibly damaging |
Het |
| Men1 |
A |
T |
19: 6,389,735 (GRCm39) |
I463L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,999 (GRCm39) |
T1982A |
unknown |
Het |
| Myo18a |
A |
T |
11: 77,738,172 (GRCm39) |
T1705S |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,372,977 (GRCm39) |
S1090G |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,358 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,234 (GRCm39) |
C127F |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,833 (GRCm39) |
F323S |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,966,767 (GRCm39) |
T561S |
probably damaging |
Het |
| Phip |
A |
C |
9: 82,787,711 (GRCm39) |
S817R |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,941 (GRCm39) |
M40L |
unknown |
Het |
| Pip4k2a |
T |
A |
2: 18,877,098 (GRCm39) |
L212F |
possibly damaging |
Het |
| Proc |
T |
A |
18: 32,268,929 (GRCm39) |
I19L |
probably benign |
Het |
| Rbm4 |
T |
C |
19: 4,842,539 (GRCm39) |
E100G |
possibly damaging |
Het |
| Rhobtb3 |
T |
C |
13: 76,059,021 (GRCm39) |
Y259C |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,124,884 (GRCm39) |
D168G |
probably null |
Het |
| Sdk1 |
T |
G |
5: 141,595,753 (GRCm39) |
Y136* |
probably null |
Het |
| Slk |
G |
A |
19: 47,624,901 (GRCm39) |
E1041K |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,454,973 (GRCm39) |
R378* |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,909,467 (GRCm39) |
F188S |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,838 (GRCm39) |
C198R |
probably damaging |
Het |
| Tor1a |
A |
C |
2: 30,857,796 (GRCm39) |
I24S |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,263,569 (GRCm39) |
T1598K |
probably benign |
Het |
| Uncx |
G |
A |
5: 139,529,809 (GRCm39) |
V21M |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,803,342 (GRCm39) |
F53I |
possibly damaging |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Zfp654 |
T |
A |
16: 64,606,297 (GRCm39) |
E94V |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,047,840 (GRCm39) |
L64P |
probably benign |
Het |
| Zfyve28 |
A |
C |
5: 34,393,461 (GRCm39) |
N68K |
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 |
|
|
R7580:Klhl18
|
UTSW |
9 |
110,265,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GAAGGAGTGTGTGCTCTGCC -3'
(R):5'- CATGGAAAATGGTACCTCACAC -3'
Sequencing Primer
(F):5'- CCTGTGCAGACTGTGGCTG -3'
(R):5'- GGTACCTCACACCATAGGGAGTTTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation