Incidental Mutation 'R5407:Klhl18'
| ID |
426336 |
| 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 # |
R5407 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
110254994-110305762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 110265195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 335
(N335K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068025]
[ENSMUST00000198164]
[ENSMUST00000198400]
|
| AlphaFold |
E9Q4F2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068025
AA Change: N335K
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: N335K
| 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: N340K
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: N340K
| 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: N270K
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: N270K
| 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 |
0.2012 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
T |
C |
4: 144,396,895 (GRCm39) |
K279R |
probably benign |
Het |
| Aldoart2 |
A |
C |
12: 55,612,981 (GRCm39) |
Y302S |
probably damaging |
Het |
| Arpp21 |
G |
T |
9: 111,945,821 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
C |
T |
1: 193,029,680 (GRCm39) |
|
probably null |
Het |
| Cand2 |
G |
A |
6: 115,762,161 (GRCm39) |
V196I |
possibly damaging |
Het |
| Cdc25b |
T |
A |
2: 131,035,567 (GRCm39) |
L381Q |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,654,946 (GRCm39) |
G610E |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,342,575 (GRCm39) |
E797K |
probably damaging |
Het |
| Col3a1 |
A |
T |
1: 45,385,212 (GRCm39) |
I110L |
probably benign |
Het |
| Col5a2 |
T |
A |
1: 45,445,440 (GRCm39) |
D506V |
possibly damaging |
Het |
| Crp |
A |
T |
1: 172,525,676 (GRCm39) |
|
probably null |
Het |
| Esco1 |
G |
T |
18: 10,574,886 (GRCm39) |
H729N |
probably damaging |
Het |
| Evx2 |
A |
G |
2: 74,488,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,279,364 (GRCm39) |
V303A |
possibly damaging |
Het |
| Gcnt3 |
A |
G |
9: 69,941,471 (GRCm39) |
Y366H |
probably benign |
Het |
| Gmpr2 |
A |
G |
14: 55,915,733 (GRCm39) |
T304A |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,349,856 (GRCm39) |
Q656* |
probably null |
Het |
| Gramd1b |
T |
A |
9: 40,366,951 (GRCm39) |
M6L |
probably damaging |
Het |
| Kif17 |
T |
C |
4: 138,025,532 (GRCm39) |
Y945H |
probably damaging |
Het |
| Lrrk1 |
T |
A |
7: 65,920,545 (GRCm39) |
Q1486L |
probably benign |
Het |
| Mboat7 |
G |
T |
7: 3,694,380 (GRCm39) |
H72N |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,165,622 (GRCm39) |
V1447M |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,954,294 (GRCm39) |
F333L |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,702,796 (GRCm39) |
T246A |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,054,054 (GRCm39) |
V325E |
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,349,930 (GRCm38) |
|
noncoding transcript |
Het |
| Onecut1 |
C |
T |
9: 74,796,738 (GRCm39) |
S419F |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,524,991 (GRCm39) |
I43F |
probably damaging |
Het |
| Ptp4a1 |
A |
T |
1: 30,984,044 (GRCm39) |
V58E |
probably benign |
Het |
| Radil |
C |
T |
5: 142,493,970 (GRCm39) |
R49H |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,582 (GRCm39) |
E1648G |
possibly damaging |
Het |
| Rnft2 |
C |
T |
5: 118,380,567 (GRCm39) |
M13I |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,987,309 (GRCm39) |
L92P |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,715 (GRCm39) |
Y1434C |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,035,486 (GRCm39) |
M657K |
probably benign |
Het |
| Shd |
A |
G |
17: 56,280,936 (GRCm39) |
E204G |
probably damaging |
Het |
| Shh |
T |
A |
5: 28,671,578 (GRCm39) |
R62* |
probably null |
Het |
| Slc9a4 |
A |
G |
1: 40,646,954 (GRCm39) |
T483A |
probably benign |
Het |
| Tbc1d7 |
A |
C |
13: 43,308,178 (GRCm39) |
S96A |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,425,755 (GRCm39) |
|
probably null |
Het |
| Tlk2 |
T |
A |
11: 105,131,201 (GRCm39) |
S182R |
probably damaging |
Het |
| Tppp2 |
A |
G |
14: 52,156,955 (GRCm39) |
|
probably null |
Het |
| Trim65 |
T |
C |
11: 116,016,906 (GRCm39) |
T519A |
probably benign |
Het |
| Trio |
T |
C |
15: 27,844,892 (GRCm39) |
|
probably null |
Het |
| Usf3 |
G |
A |
16: 44,037,769 (GRCm39) |
V750I |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,556,369 (GRCm39) |
K1480N |
probably damaging |
Het |
| Vmn1r58 |
T |
A |
7: 5,413,872 (GRCm39) |
R119S |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,341,313 (GRCm39) |
I1185V |
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,670,092 (GRCm39) |
H654R |
probably damaging |
Het |
| Zfyve16 |
G |
T |
13: 92,636,792 (GRCm39) |
A1306E |
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 |
|
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'- GCAGGACTTCCCAGGCATTTAC -3'
(R):5'- TTCCGTATAGTCAATACCCAGTAG -3'
Sequencing Primer
(F):5'- ACTTTATTATGTGCCCCTACATGG -3'
(R):5'- TAGTCAATACCCAGTAGCTGTGAGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation