Incidental Mutation 'R6769:Klhl5'
ID |
532080 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl5
|
Ensembl Gene |
ENSMUSG00000054920 |
Gene Name |
kelch-like 5 |
Synonyms |
1300013C10Rik |
MMRRC Submission |
044885-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R6769 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65264894-65325490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65321995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 534
(Y534N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101191]
[ENSMUST00000203538]
[ENSMUST00000204097]
[ENSMUST00000204348]
|
AlphaFold |
Q6PFE1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101191
AA Change: Y674N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098752 Gene: ENSMUSG00000054920 AA Change: Y674N
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 |
probably damaging
Transcript: ENSMUST00000204097
AA Change: Y534N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144976 Gene: ENSMUSG00000054920 AA Change: Y534N
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: Y613N
|
SMART Domains |
Protein: ENSMUSP00000144732 Gene: ENSMUSG00000054920 AA Change: Y613N
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 |
0.5723 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
Alox5 |
C |
A |
6: 116,392,145 (GRCm39) |
|
probably null |
Het |
Amer3 |
C |
A |
1: 34,627,330 (GRCm39) |
A523D |
possibly damaging |
Het |
Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 76,996,258 (GRCm39) |
V1101A |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
Gm7361 |
T |
A |
5: 26,462,767 (GRCm39) |
L3* |
probably null |
Het |
Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
Ighv2-9 |
A |
T |
12: 113,842,930 (GRCm39) |
F46I |
possibly damaging |
Het |
Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
Mnat1 |
A |
G |
12: 73,319,196 (GRCm39) |
N273S |
probably benign |
Het |
Niban2 |
C |
T |
2: 32,785,666 (GRCm39) |
|
|
Het |
Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
Prdm5 |
T |
A |
6: 65,839,920 (GRCm39) |
I265K |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
Rassf4 |
T |
A |
6: 116,618,433 (GRCm39) |
D215V |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,933,445 (GRCm39) |
N1550D |
probably benign |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc30a5 |
A |
C |
13: 100,950,368 (GRCm39) |
S240A |
probably benign |
Het |
Slc7a4 |
A |
G |
16: 17,393,184 (GRCm39) |
V205A |
possibly damaging |
Het |
Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,313,856 (GRCm39) |
S155T |
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 |
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 |
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'- TTGCACACAAAACATTTCAGGAGC -3'
(R):5'- AAAATCAGACACTGCATCTTGG -3'
Sequencing Primer
(F):5'- GCAATATCAGCTCGAGTTGTAAAC -3'
(R):5'- TCCGTTCAAGTGCTGAGAAC -3'
|
Posted On |
2018-08-29 |