Incidental Mutation 'R1181:Klhl5'
ID |
101558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl5
|
Ensembl Gene |
ENSMUSG00000054920 |
Gene Name |
kelch-like 5 |
Synonyms |
1300013C10Rik |
MMRRC Submission |
039253-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R1181 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65264894-65325490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65320228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 594
(M594T)
|
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: M594T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000098752 Gene: ENSMUSG00000054920 AA Change: M594T
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: M219T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000145269 Gene: ENSMUSG00000054920 AA Change: M219T
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: M454T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144976 Gene: ENSMUSG00000054920 AA Change: M454T
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: M533T
|
SMART Domains |
Protein: ENSMUSP00000144732 Gene: ENSMUSG00000054920 AA Change: M533T
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 |
0.9156 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.9%
- 10x: 93.9%
- 20x: 84.2%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
T |
A |
19: 4,922,638 (GRCm39) |
Q64L |
probably benign |
Het |
Ankrd12 |
T |
C |
17: 66,349,569 (GRCm39) |
N88S |
probably benign |
Het |
Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
Bnipl |
C |
A |
3: 95,152,960 (GRCm39) |
|
probably null |
Het |
Bod1 |
T |
C |
11: 31,616,943 (GRCm39) |
|
probably benign |
Het |
Cbarp |
G |
T |
10: 79,971,328 (GRCm39) |
H166N |
probably damaging |
Het |
Cdr2l |
T |
A |
11: 115,285,005 (GRCm39) |
I447N |
probably damaging |
Het |
Cped1 |
T |
G |
6: 22,215,561 (GRCm39) |
I698M |
probably damaging |
Het |
Ecm1 |
G |
A |
3: 95,642,662 (GRCm39) |
H404Y |
possibly damaging |
Het |
Ehbp1 |
C |
T |
11: 22,012,831 (GRCm39) |
V902I |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
Fastk |
C |
T |
5: 24,646,729 (GRCm39) |
|
probably null |
Het |
Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
Hgf |
G |
C |
5: 16,823,923 (GRCm39) |
G707R |
probably damaging |
Het |
Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
Mettl14 |
C |
T |
3: 123,167,651 (GRCm39) |
G236S |
probably damaging |
Het |
Nob1 |
G |
A |
8: 108,148,122 (GRCm39) |
P107S |
probably damaging |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Or2a56 |
T |
A |
6: 42,932,492 (GRCm39) |
L20Q |
probably benign |
Het |
Or52e7 |
T |
A |
7: 104,685,021 (GRCm39) |
N205K |
probably damaging |
Het |
Or52n4b |
C |
A |
7: 108,144,509 (GRCm39) |
T257N |
probably benign |
Het |
Or5b109 |
C |
A |
19: 13,212,195 (GRCm39) |
H194N |
probably benign |
Het |
Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
Or6c65 |
A |
G |
10: 129,604,033 (GRCm39) |
I223V |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,183,366 (GRCm39) |
|
probably benign |
Het |
Pds5a |
A |
T |
5: 65,784,545 (GRCm39) |
|
probably null |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
Serinc3 |
T |
C |
2: 163,467,446 (GRCm39) |
K445R |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,907,571 (GRCm39) |
E324G |
probably benign |
Het |
Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
Tas2r121 |
A |
T |
6: 132,677,132 (GRCm39) |
I280N |
probably damaging |
Het |
Tbc1d7 |
T |
C |
13: 43,306,615 (GRCm39) |
I242M |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
Trim66 |
C |
T |
7: 109,083,784 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
Tulp3 |
A |
T |
6: 128,302,915 (GRCm39) |
H301Q |
possibly damaging |
Het |
Ubqln5 |
T |
A |
7: 103,777,948 (GRCm39) |
Q292L |
probably damaging |
Het |
Zfp454 |
T |
C |
11: 50,764,413 (GRCm39) |
K229E |
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 |
|
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 |
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'- TGTCACAGCAATAGCCTGTTGACC -3'
(R):5'- TCCCGAGGGAATATGTGAGATCCAG -3'
Sequencing Primer
(F):5'- TGTTGACCCCAGCACTGTG -3'
(R):5'- TGAGATCCAGGAATCTCAGTGC -3'
|
Posted On |
2014-01-15 |