Incidental Mutation 'R1157:Klhl29'
ID |
101821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl29
|
Ensembl Gene |
ENSMUSG00000020627 |
Gene Name |
kelch-like 29 |
Synonyms |
Kbtbd9, A230106N14Rik |
MMRRC Submission |
039230-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R1157 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
5127472-5425682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5140650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 664
(N664S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020958]
[ENSMUST00000218384]
|
AlphaFold |
Q80T74 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020958
AA Change: N664S
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020958 Gene: ENSMUSG00000020627 AA Change: N664S
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 |
probably benign
Transcript: ENSMUST00000218384
AA Change: N603S
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3) |
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl4 |
C |
A |
3: 95,590,971 (GRCm39) |
S332I |
possibly damaging |
Het |
Alpl |
A |
G |
4: 137,481,331 (GRCm39) |
V107A |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,976,349 (GRCm39) |
F442L |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,832,037 (GRCm39) |
M733K |
possibly damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,390,650 (GRCm39) |
C1061S |
probably benign |
Het |
Crispld1 |
G |
A |
1: 17,815,587 (GRCm39) |
V90M |
possibly damaging |
Het |
Ergic1 |
T |
A |
17: 26,833,369 (GRCm39) |
L41Q |
probably damaging |
Het |
Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
Gas2l2 |
G |
A |
11: 83,314,154 (GRCm39) |
P386L |
probably benign |
Het |
Gm21726 |
T |
C |
13: 90,731,724 (GRCm39) |
|
noncoding transcript |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Iqsec1 |
A |
G |
6: 90,646,366 (GRCm39) |
V771A |
possibly damaging |
Het |
Krit1 |
T |
C |
5: 3,882,176 (GRCm39) |
Y659H |
probably damaging |
Het |
Lap3 |
T |
A |
5: 45,664,490 (GRCm39) |
D373E |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,865,892 (GRCm39) |
I1283T |
probably damaging |
Het |
Lrrk1 |
T |
C |
7: 65,912,031 (GRCm39) |
Y1843C |
probably benign |
Het |
Mapre1 |
T |
A |
2: 153,599,937 (GRCm39) |
D120E |
probably benign |
Het |
Mgp |
A |
T |
6: 136,850,204 (GRCm39) |
M44K |
possibly damaging |
Het |
Mrps25 |
A |
T |
6: 92,160,947 (GRCm39) |
M3K |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,434,456 (GRCm39) |
|
probably null |
Het |
Nedd9 |
C |
T |
13: 41,467,979 (GRCm39) |
|
probably null |
Het |
Or52e4 |
A |
G |
7: 104,706,091 (GRCm39) |
I213V |
probably benign |
Het |
Or6c8b |
T |
G |
10: 128,882,027 (GRCm39) |
T302P |
probably benign |
Het |
Or7c19 |
G |
T |
8: 85,957,889 (GRCm39) |
C255F |
probably damaging |
Het |
Pate12 |
G |
A |
9: 36,344,143 (GRCm39) |
C42Y |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pigs |
T |
C |
11: 78,219,820 (GRCm39) |
V65A |
possibly damaging |
Het |
Pip5k1a |
G |
A |
3: 94,985,423 (GRCm39) |
T60I |
probably benign |
Het |
Rp9 |
A |
T |
9: 22,370,036 (GRCm39) |
Y44N |
probably damaging |
Het |
Tcea1 |
T |
A |
1: 4,959,670 (GRCm39) |
|
probably null |
Het |
Trim33 |
C |
T |
3: 103,261,146 (GRCm39) |
T1098I |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,529,314 (GRCm39) |
I263F |
possibly damaging |
Het |
Wdr12 |
A |
T |
1: 60,117,389 (GRCm39) |
S402R |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,186,282 (GRCm39) |
S771G |
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 |
IGL02639:Klhl29
|
APN |
12 |
5,187,453 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |