Incidental Mutation 'R0783:Klhl5'
ID |
76717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl5
|
Ensembl Gene |
ENSMUSG00000054920 |
Gene Name |
kelch-like 5 |
Synonyms |
1300013C10Rik |
MMRRC Submission |
038963-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R0783 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65264894-65325490 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 65313596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101191]
[ENSMUST00000203538]
[ENSMUST00000204097]
[ENSMUST00000204348]
|
AlphaFold |
Q6PFE1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000101191
|
SMART Domains |
Protein: ENSMUSP00000098752 Gene: ENSMUSG00000054920
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 benign
Transcript: ENSMUST00000203538
|
SMART Domains |
Protein: ENSMUSP00000145269 Gene: ENSMUSG00000054920
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 |
noncoding transcript
Transcript: ENSMUST00000203561
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204097
|
SMART Domains |
Protein: ENSMUSP00000144976 Gene: ENSMUSG00000054920
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 |
probably benign
Transcript: ENSMUST00000204348
|
SMART Domains |
Protein: ENSMUSP00000144732 Gene: ENSMUSG00000054920
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.2%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,415,601 (GRCm39) |
|
probably null |
Het |
Acsm2 |
G |
A |
7: 119,172,340 (GRCm39) |
G61D |
probably damaging |
Het |
Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
Bbs9 |
T |
C |
9: 22,479,010 (GRCm39) |
L151S |
possibly damaging |
Het |
Camk2g |
T |
A |
14: 20,794,704 (GRCm39) |
T173S |
possibly damaging |
Het |
Eif3b |
T |
C |
5: 140,405,592 (GRCm39) |
|
probably benign |
Het |
Eif3i |
A |
C |
4: 129,485,869 (GRCm39) |
F319V |
possibly damaging |
Het |
Eprs1 |
T |
C |
1: 185,130,655 (GRCm39) |
L672P |
probably damaging |
Het |
Fam110d |
G |
A |
4: 133,979,368 (GRCm39) |
R37C |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,916,289 (GRCm39) |
A3441V |
probably damaging |
Het |
Gigyf2 |
T |
A |
1: 87,334,883 (GRCm39) |
M79K |
probably damaging |
Het |
Hdac1 |
T |
C |
4: 129,411,902 (GRCm39) |
N331S |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,525,824 (GRCm39) |
G3300S |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,053,071 (GRCm39) |
E400G |
probably damaging |
Het |
Irx2 |
T |
C |
13: 72,780,769 (GRCm39) |
|
probably null |
Het |
Itih4 |
G |
A |
14: 30,617,380 (GRCm39) |
E567K |
possibly damaging |
Het |
Klk1b8 |
G |
A |
7: 43,451,621 (GRCm39) |
G204E |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,517,680 (GRCm39) |
F1843L |
possibly damaging |
Het |
Mllt6 |
T |
C |
11: 97,556,571 (GRCm39) |
V87A |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Nhlrc3 |
A |
T |
3: 53,369,870 (GRCm39) |
S34T |
probably benign |
Het |
Or10q1 |
T |
C |
19: 13,727,040 (GRCm39) |
L190P |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,987,235 (GRCm39) |
C95S |
probably benign |
Het |
Or52b3 |
A |
G |
7: 102,203,646 (GRCm39) |
I52V |
probably benign |
Het |
Or52s1 |
T |
C |
7: 102,861,877 (GRCm39) |
F259S |
probably damaging |
Het |
Or5h25 |
A |
T |
16: 58,930,532 (GRCm39) |
L147* |
probably null |
Het |
Or8h9 |
A |
G |
2: 86,788,906 (GRCm39) |
C299R |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,622,252 (GRCm39) |
W1074R |
probably damaging |
Het |
Pcsk9 |
T |
C |
4: 106,307,314 (GRCm39) |
T310A |
probably benign |
Het |
Pfas |
A |
G |
11: 68,891,347 (GRCm39) |
L250P |
probably damaging |
Het |
Plk5 |
T |
A |
10: 80,196,964 (GRCm39) |
D352E |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,586,672 (GRCm39) |
|
probably benign |
Het |
Serinc3 |
A |
G |
2: 163,478,923 (GRCm39) |
I68T |
possibly damaging |
Het |
Sez6l2 |
A |
G |
7: 126,566,317 (GRCm39) |
T810A |
possibly damaging |
Het |
Tmprss7 |
G |
A |
16: 45,487,969 (GRCm39) |
Q487* |
probably null |
Het |
Tnf |
A |
G |
17: 35,420,650 (GRCm39) |
I56T |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,570,458 (GRCm39) |
S1163T |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,573,874 (GRCm39) |
T23927I |
probably damaging |
Het |
Urb1 |
G |
A |
16: 90,607,185 (GRCm39) |
A15V |
possibly damaging |
Het |
Zfp128 |
C |
T |
7: 12,624,199 (GRCm39) |
P189L |
probably damaging |
Het |
Zfr |
T |
C |
15: 12,162,268 (GRCm39) |
V806A |
probably damaging |
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 |
|
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 |
|
R8185:Klhl5
|
UTSW |
5 |
65,313,471 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CTGGCAGACATGGAAAACAATGCAC -3'
(R):5'- CCTCTAGGAACAACTGTTCACAGAATCC -3'
Sequencing Primer
(F):5'- GGAAAACAATGCACTTTTCCG -3'
(R):5'- gctttcctttccatctgtgtc -3'
|
Posted On |
2013-10-16 |