Incidental Mutation 'R5078:Klhl29'
| ID |
386973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl29
|
| Ensembl Gene |
ENSMUSG00000020627 |
| Gene Name |
kelch-like 29 |
| Synonyms |
Kbtbd9, A230106N14Rik |
| MMRRC Submission |
042667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5078 (G1)
|
| Quality Score |
194 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
5127472-5425682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5143530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 500
(T500A)
|
| 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: T500A
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: T500A
| 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: T500A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0756 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3) |
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
T |
C |
16: 4,141,771 (GRCm39) |
S345G |
probably benign |
Het |
| Adgrf2 |
A |
T |
17: 43,021,877 (GRCm39) |
F316I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,736,002 (GRCm39) |
|
probably benign |
Het |
| Auts2 |
T |
C |
5: 132,287,786 (GRCm39) |
K66E |
possibly damaging |
Het |
| Bicra |
T |
C |
7: 15,709,382 (GRCm39) |
D1144G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,557,312 (GRCm39) |
S1109P |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,822,572 (GRCm39) |
V29A |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 22,200,685 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
G |
A |
6: 61,288,350 (GRCm39) |
R171H |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,312,150 (GRCm39) |
Y133C |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,223,352 (GRCm39) |
D123V |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,946,616 (GRCm39) |
S121P |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,493,936 (GRCm39) |
V1459A |
probably benign |
Het |
| Dlg1 |
T |
A |
16: 31,675,287 (GRCm39) |
Y704* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,729,140 (GRCm39) |
|
probably null |
Het |
| Egln3 |
T |
C |
12: 54,228,453 (GRCm39) |
R218G |
probably damaging |
Het |
| Gm11568 |
T |
C |
11: 99,749,181 (GRCm39) |
C129R |
unknown |
Het |
| Gm13991 |
T |
C |
2: 116,358,355 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
C |
A |
16: 26,784,332 (GRCm39) |
V58L |
probably benign |
Het |
| Gpx5 |
A |
G |
13: 21,472,881 (GRCm39) |
F151S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,546,922 (GRCm39) |
G1079R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,752,969 (GRCm39) |
E1039G |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,125,487 (GRCm39) |
|
probably benign |
Het |
| Lrfn5 |
A |
C |
12: 61,890,660 (GRCm39) |
K650Q |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,331,874 (GRCm39) |
D1627G |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,152,433 (GRCm39) |
K354E |
probably damaging |
Het |
| Or5d20-ps1 |
T |
A |
2: 87,931,879 (GRCm39) |
I151L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,478,895 (GRCm39) |
T2118A |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,598,105 (GRCm39) |
F861L |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,607 (GRCm39) |
Y2368H |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,963 (GRCm39) |
L252* |
probably null |
Het |
| Prom2 |
T |
C |
2: 127,373,757 (GRCm39) |
Q641R |
probably benign |
Het |
| Prpf31 |
T |
C |
7: 3,637,702 (GRCm39) |
S180P |
possibly damaging |
Het |
| Prss27 |
C |
A |
17: 24,263,414 (GRCm39) |
Y142* |
probably null |
Het |
| Ripk1 |
T |
G |
13: 34,201,082 (GRCm39) |
M265R |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,487,161 (GRCm39) |
D32E |
probably damaging |
Het |
| Rps23 |
T |
C |
13: 91,071,822 (GRCm39) |
F41L |
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
| Selenot |
C |
T |
3: 58,492,692 (GRCm39) |
R60W |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,546,921 (GRCm39) |
K342E |
probably damaging |
Het |
| Tlx1 |
A |
T |
19: 45,144,460 (GRCm39) |
N61Y |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,122 (GRCm39) |
I701F |
probably damaging |
Het |
| Zmynd12 |
A |
G |
4: 119,302,047 (GRCm39) |
K229E |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- GAAGTCCTTAAGAGCCCTCTG -3'
(R):5'- TGACTGCCAGCAACTGTCTG -3'
Sequencing Primer
(F):5'- AGTCCTTAAGAGCCCTCTGGAGAC -3'
(R):5'- AGCAACTGTCTGGGAGTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation