Incidental Mutation 'R8185:Klhl5'
| ID |
634812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl5
|
| Ensembl Gene |
ENSMUSG00000054920 |
| Gene Name |
kelch-like 5 |
| Synonyms |
1300013C10Rik |
| MMRRC Submission |
067608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R8185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65264894-65325490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65313471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 395
(M395K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101191]
[ENSMUST00000203538]
[ENSMUST00000204097]
[ENSMUST00000204348]
|
| AlphaFold |
Q6PFE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101191
AA Change: M395K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: M395K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
137 |
N/A |
INTRINSIC |
|
BTB
|
173 |
270 |
1.5e-28 |
SMART |
|
BACK
|
275 |
376 |
7.85e-36 |
SMART |
|
Kelch
|
421 |
467 |
1.12e-11 |
SMART |
|
Kelch
|
468 |
514 |
3.2e-16 |
SMART |
|
Kelch
|
515 |
561 |
1.51e-12 |
SMART |
|
Kelch
|
562 |
608 |
4.6e-17 |
SMART |
|
Kelch
|
609 |
661 |
2.84e-8 |
SMART |
|
Kelch
|
662 |
708 |
1.83e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203538
AA Change: M20K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145269
Gene: ENSMUSG00000054920
AA Change: M20K
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
46 |
92 |
3.7e-14 |
SMART |
|
Kelch
|
93 |
139 |
1.1e-18 |
SMART |
|
Kelch
|
140 |
186 |
5.1e-15 |
SMART |
|
Kelch
|
187 |
233 |
1.5e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204097
AA Change: M255K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: M255K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.5e-28 |
SMART |
|
BACK
|
135 |
236 |
7.85e-36 |
SMART |
|
Kelch
|
281 |
327 |
1.12e-11 |
SMART |
|
Kelch
|
328 |
374 |
3.2e-16 |
SMART |
|
Kelch
|
375 |
421 |
1.51e-12 |
SMART |
|
Kelch
|
422 |
468 |
4.6e-17 |
SMART |
|
Kelch
|
469 |
521 |
2.84e-8 |
SMART |
|
Kelch
|
522 |
568 |
1.83e-11 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000204348
AA Change: M334K
|
| SMART Domains |
Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: M334K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
111 |
209 |
1.32e-15 |
SMART |
|
BACK
|
214 |
315 |
7.85e-36 |
SMART |
|
Kelch
|
360 |
406 |
1.12e-11 |
SMART |
|
Kelch
|
407 |
453 |
3.2e-16 |
SMART |
|
Kelch
|
454 |
500 |
1.51e-12 |
SMART |
|
Kelch
|
501 |
547 |
4.6e-17 |
SMART |
|
Kelch
|
548 |
600 |
2.84e-8 |
SMART |
|
Kelch
|
601 |
647 |
1.83e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,011 (GRCm39) |
V256A |
possibly damaging |
Het |
| Ackr3 |
G |
A |
1: 90,141,666 (GRCm39) |
V42M |
probably benign |
Het |
| C9 |
T |
A |
15: 6,520,878 (GRCm39) |
I441N |
probably damaging |
Het |
| Cd44 |
G |
A |
2: 102,654,665 (GRCm39) |
A667V |
possibly damaging |
Het |
| Cdc23 |
T |
C |
18: 34,774,197 (GRCm39) |
N322D |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,824 (GRCm39) |
N227S |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,487,979 (GRCm39) |
R559Q |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,391,897 (GRCm39) |
N121D |
probably damaging |
Het |
| Cog7 |
A |
G |
7: 121,576,969 (GRCm39) |
L63P |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,854,168 (GRCm39) |
A285V |
probably benign |
Het |
| Cpsf7 |
C |
T |
19: 10,514,224 (GRCm39) |
R343* |
probably null |
Het |
| Cubn |
T |
G |
2: 13,299,129 (GRCm39) |
K3181N |
probably benign |
Het |
| Dsg1a |
C |
T |
18: 20,473,669 (GRCm39) |
T914I |
probably damaging |
Het |
| Ebf3 |
A |
T |
7: 136,827,607 (GRCm39) |
C255S |
possibly damaging |
Het |
| Eif1ad5 |
T |
A |
12: 87,940,433 (GRCm39) |
W46R |
noncoding transcript |
Het |
| Fasn |
A |
T |
11: 120,702,969 (GRCm39) |
I1658N |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,794,020 (GRCm39) |
V210A |
probably damaging |
Het |
| Flvcr1 |
G |
A |
1: 190,747,681 (GRCm39) |
P305S |
probably damaging |
Het |
| Frem3 |
G |
T |
8: 81,338,933 (GRCm39) |
E409* |
probably null |
Het |
| Gabrr2 |
T |
A |
4: 33,082,330 (GRCm39) |
D213E |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,040 (GRCm39) |
D418E |
possibly damaging |
Het |
| Immt |
C |
T |
6: 71,849,835 (GRCm39) |
Q530* |
probably null |
Het |
| Ints10 |
T |
C |
8: 69,249,370 (GRCm39) |
F67L |
possibly damaging |
Het |
| Kdm4c |
C |
T |
4: 74,291,821 (GRCm39) |
H813Y |
probably benign |
Het |
| Klk1b11 |
T |
C |
7: 43,426,332 (GRCm39) |
I49T |
probably damaging |
Het |
| Lmln |
A |
T |
16: 32,909,690 (GRCm39) |
N357I |
probably damaging |
Het |
| Lpar1 |
A |
T |
4: 58,486,509 (GRCm39) |
M254K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,894 (GRCm39) |
V554A |
probably damaging |
Het |
| Melk |
G |
A |
4: 44,360,965 (GRCm39) |
V582I |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,573,492 (GRCm39) |
T195A |
unknown |
Het |
| Nedd4l |
T |
C |
18: 65,342,769 (GRCm39) |
F781L |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,971,739 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
G |
A |
9: 48,304,509 (GRCm39) |
D199N |
possibly damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,542 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Ovol1 |
T |
C |
19: 5,601,542 (GRCm39) |
D160G |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,106,863 (GRCm39) |
P453S |
probably benign |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,873 (GRCm39) |
G373S |
probably damaging |
Het |
| Slc7a9 |
T |
C |
7: 35,151,842 (GRCm39) |
S46P |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,679,014 (GRCm38) |
I63V |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,667 (GRCm39) |
V305A |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,398,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,163 (GRCm39) |
N118I |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Klhl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Klhl5
|
APN |
5 |
65,306,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02700:Klhl5
|
APN |
5 |
65,288,773 (GRCm39) |
nonsense |
probably null |
|
|
R0064:Klhl5
|
UTSW |
5 |
65,298,631 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0142:Klhl5
|
UTSW |
5 |
65,300,693 (GRCm39) |
nonsense |
probably null |
|
|
R0783:Klhl5
|
UTSW |
5 |
65,313,596 (GRCm39) |
splice site |
probably benign |
|
|
R0828:Klhl5
|
UTSW |
5 |
65,320,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Klhl5
|
UTSW |
5 |
65,298,683 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1181:Klhl5
|
UTSW |
5 |
65,320,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1611:Klhl5
|
UTSW |
5 |
65,321,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1903:Klhl5
|
UTSW |
5 |
65,324,330 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4880:Klhl5
|
UTSW |
5 |
65,316,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Klhl5
|
UTSW |
5 |
65,310,033 (GRCm39) |
intron |
probably benign |
|
|
R5204:Klhl5
|
UTSW |
5 |
65,288,781 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5389:Klhl5
|
UTSW |
5 |
65,298,625 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5921:Klhl5
|
UTSW |
5 |
65,320,299 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6769:Klhl5
|
UTSW |
5 |
65,321,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Klhl5
|
UTSW |
5 |
65,321,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Klhl5
|
UTSW |
5 |
65,300,592 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7214:Klhl5
|
UTSW |
5 |
65,289,098 (GRCm39) |
missense |
probably benign |
|
|
R7227:Klhl5
|
UTSW |
5 |
65,298,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7239:Klhl5
|
UTSW |
5 |
65,318,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7400:Klhl5
|
UTSW |
5 |
65,305,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7796:Klhl5
|
UTSW |
5 |
65,321,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Klhl5
|
UTSW |
5 |
65,320,268 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8108:Klhl5
|
UTSW |
5 |
65,305,930 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8424:Klhl5
|
UTSW |
5 |
65,320,305 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8691:Klhl5
|
UTSW |
5 |
65,306,881 (GRCm39) |
intron |
probably benign |
|
|
R8818:Klhl5
|
UTSW |
5 |
65,305,989 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9233:Klhl5
|
UTSW |
5 |
65,300,673 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9456:Klhl5
|
UTSW |
5 |
65,305,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9528:Klhl5
|
UTSW |
5 |
65,313,586 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9688:Klhl5
|
UTSW |
5 |
65,321,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9744:Klhl5
|
UTSW |
5 |
65,320,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Klhl5
|
UTSW |
5 |
65,320,264 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATCCCTGCACTCATGAGG -3'
(R):5'- CCTCTTGGTAGTGTTACTGGTTACC -3'
Sequencing Primer
(F):5'- AGCCTGCTGTACATCATGG -3'
(R):5'- GTAGTGTTACTGGTTACCCTCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation