Incidental Mutation 'IGL02639:Klhl29'
ID |
301675 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhl29
|
Ensembl Gene |
ENSMUSG00000020627 |
Gene Name |
kelch-like 29 |
Synonyms |
Kbtbd9, A230106N14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
IGL02639
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
5127472-5425682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5187453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 304
(Y304N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020958]
[ENSMUST00000218384]
|
AlphaFold |
Q80T74 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020958
AA Change: Y304N
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020958 Gene: ENSMUSG00000020627 AA Change: Y304N
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
49 |
N/A |
INTRINSIC |
low complexity region
|
50 |
75 |
N/A |
INTRINSIC |
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
low complexity region
|
205 |
219 |
N/A |
INTRINSIC |
low complexity region
|
260 |
280 |
N/A |
INTRINSIC |
BTB
|
329 |
431 |
2.07e-22 |
SMART |
BACK
|
436 |
538 |
4.88e-32 |
SMART |
Kelch
|
585 |
636 |
5.33e0 |
SMART |
Kelch
|
637 |
683 |
5.42e-5 |
SMART |
Kelch
|
684 |
730 |
5.42e-5 |
SMART |
Kelch
|
731 |
778 |
5.44e-1 |
SMART |
Kelch
|
779 |
821 |
2.54e-1 |
SMART |
Kelch
|
822 |
870 |
4.01e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218384
AA Change: Y304N
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3) |
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
C |
T |
15: 37,430,048 (GRCm39) |
R71* |
probably null |
Het |
Abca5 |
A |
T |
11: 110,178,899 (GRCm39) |
I1140N |
possibly damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,946,344 (GRCm39) |
I773N |
possibly damaging |
Het |
Atp9a |
A |
G |
2: 168,491,540 (GRCm39) |
M675T |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,942,810 (GRCm39) |
|
probably benign |
Het |
Cd5l |
T |
C |
3: 87,275,813 (GRCm39) |
V261A |
probably damaging |
Het |
Copb1 |
A |
G |
7: 113,825,830 (GRCm39) |
|
probably benign |
Het |
Cul5 |
T |
C |
9: 53,566,642 (GRCm39) |
D130G |
possibly damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,546,986 (GRCm39) |
Q176L |
probably benign |
Het |
Ddo |
A |
G |
10: 40,523,733 (GRCm39) |
D241G |
probably damaging |
Het |
Defa29 |
A |
G |
8: 21,816,137 (GRCm39) |
C77R |
possibly damaging |
Het |
Dpp4 |
T |
C |
2: 62,182,584 (GRCm39) |
N566D |
probably benign |
Het |
Eif1ad14 |
G |
T |
12: 87,886,269 (GRCm39) |
T120K |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,581,544 (GRCm39) |
D394G |
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,043,426 (GRCm39) |
E461G |
probably benign |
Het |
Fgfr2 |
A |
G |
7: 129,830,532 (GRCm39) |
|
probably benign |
Het |
Fibcd1 |
G |
A |
2: 31,707,162 (GRCm39) |
T365M |
probably damaging |
Het |
Fndc3a |
A |
C |
14: 72,811,797 (GRCm39) |
H344Q |
probably benign |
Het |
Fnip1 |
T |
A |
11: 54,366,466 (GRCm39) |
C52* |
probably null |
Het |
Fto |
T |
A |
8: 92,136,156 (GRCm39) |
N143K |
probably damaging |
Het |
Hells |
G |
T |
19: 38,926,873 (GRCm39) |
L84F |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,265,081 (GRCm39) |
V2755I |
probably benign |
Het |
Irgq |
C |
A |
7: 24,230,887 (GRCm39) |
A26E |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,471,964 (GRCm39) |
I1518V |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,235,843 (GRCm39) |
|
probably benign |
Het |
Myo15a |
T |
C |
11: 60,369,447 (GRCm39) |
F736L |
probably benign |
Het |
Nynrin |
G |
T |
14: 56,108,112 (GRCm39) |
W1073L |
probably damaging |
Het |
Or10h28 |
G |
A |
17: 33,488,369 (GRCm39) |
V224M |
possibly damaging |
Het |
Or10w1 |
A |
T |
19: 13,631,960 (GRCm39) |
T51S |
possibly damaging |
Het |
Or14c46 |
A |
T |
7: 85,918,928 (GRCm39) |
I23N |
probably damaging |
Het |
Or14j10 |
A |
T |
17: 37,934,878 (GRCm39) |
I216N |
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,667,371 (GRCm39) |
C261S |
probably benign |
Het |
Or51a10 |
C |
A |
7: 103,698,988 (GRCm39) |
C191F |
probably damaging |
Het |
Or52e8b |
T |
A |
7: 104,673,429 (GRCm39) |
I253F |
probably damaging |
Het |
Pdzd2 |
T |
A |
15: 12,592,329 (GRCm39) |
K105M |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pola2 |
A |
G |
19: 6,003,802 (GRCm39) |
V191A |
probably benign |
Het |
Slc22a8 |
A |
T |
19: 8,571,323 (GRCm39) |
Y18F |
probably benign |
Het |
Slc26a5 |
C |
T |
5: 22,024,765 (GRCm39) |
V440M |
probably damaging |
Het |
|
Other mutations in Klhl29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Klhl29
|
APN |
12 |
5,190,705 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03142:Klhl29
|
APN |
12 |
5,187,603 (GRCm39) |
missense |
probably damaging |
1.00 |
bauxite
|
UTSW |
12 |
5,141,347 (GRCm39) |
missense |
probably damaging |
0.98 |
Kerosene
|
UTSW |
12 |
5,141,030 (GRCm39) |
missense |
probably damaging |
0.98 |
Mineral
|
UTSW |
12 |
5,133,995 (GRCm39) |
missense |
probably damaging |
0.99 |
tungsten
|
UTSW |
12 |
5,140,995 (GRCm39) |
nonsense |
probably null |
|
N/A - 535:Klhl29
|
UTSW |
12 |
5,134,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Klhl29
|
UTSW |
12 |
5,134,354 (GRCm39) |
missense |
probably damaging |
0.97 |
R0622:Klhl29
|
UTSW |
12 |
5,131,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Klhl29
|
UTSW |
12 |
5,144,883 (GRCm39) |
missense |
probably benign |
0.08 |
R0784:Klhl29
|
UTSW |
12 |
5,131,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R1157:Klhl29
|
UTSW |
12 |
5,140,650 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1521:Klhl29
|
UTSW |
12 |
5,141,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Klhl29
|
UTSW |
12 |
5,134,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R1599:Klhl29
|
UTSW |
12 |
5,143,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R2049:Klhl29
|
UTSW |
12 |
5,187,876 (GRCm39) |
missense |
probably damaging |
0.96 |
R2568:Klhl29
|
UTSW |
12 |
5,141,350 (GRCm39) |
missense |
probably damaging |
0.96 |
R2883:Klhl29
|
UTSW |
12 |
5,134,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R3724:Klhl29
|
UTSW |
12 |
5,140,603 (GRCm39) |
missense |
probably damaging |
0.99 |
R3951:Klhl29
|
UTSW |
12 |
5,190,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R5031:Klhl29
|
UTSW |
12 |
5,141,334 (GRCm39) |
missense |
probably benign |
0.05 |
R5078:Klhl29
|
UTSW |
12 |
5,143,530 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5410:Klhl29
|
UTSW |
12 |
5,141,366 (GRCm39) |
missense |
probably benign |
0.36 |
R5619:Klhl29
|
UTSW |
12 |
5,190,587 (GRCm39) |
missense |
probably benign |
0.23 |
R5681:Klhl29
|
UTSW |
12 |
5,140,669 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6028:Klhl29
|
UTSW |
12 |
5,140,995 (GRCm39) |
nonsense |
probably null |
|
R6294:Klhl29
|
UTSW |
12 |
5,133,995 (GRCm39) |
missense |
probably damaging |
0.99 |
R6394:Klhl29
|
UTSW |
12 |
5,187,720 (GRCm39) |
missense |
probably benign |
0.00 |
R6394:Klhl29
|
UTSW |
12 |
5,144,830 (GRCm39) |
nonsense |
probably null |
|
R6475:Klhl29
|
UTSW |
12 |
5,141,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R6737:Klhl29
|
UTSW |
12 |
5,260,124 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6781:Klhl29
|
UTSW |
12 |
5,141,347 (GRCm39) |
missense |
probably damaging |
0.98 |
R6788:Klhl29
|
UTSW |
12 |
5,134,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R7741:Klhl29
|
UTSW |
12 |
5,187,500 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8709:Klhl29
|
UTSW |
12 |
5,140,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R8886:Klhl29
|
UTSW |
12 |
5,187,542 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8888:Klhl29
|
UTSW |
12 |
5,187,542 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8954:Klhl29
|
UTSW |
12 |
5,187,542 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8971:Klhl29
|
UTSW |
12 |
5,190,710 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9031:Klhl29
|
UTSW |
12 |
5,140,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R9066:Klhl29
|
UTSW |
12 |
5,260,114 (GRCm39) |
missense |
probably benign |
0.01 |
R9432:Klhl29
|
UTSW |
12 |
5,260,056 (GRCm39) |
missense |
probably benign |
0.00 |
R9509:Klhl29
|
UTSW |
12 |
5,190,629 (GRCm39) |
missense |
probably damaging |
0.98 |
R9733:Klhl29
|
UTSW |
12 |
5,190,641 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Klhl29
|
UTSW |
12 |
5,131,152 (GRCm39) |
makesense |
probably null |
|
|
Posted On |
2015-04-16 |