Incidental Mutation 'R2883:Klhl29'
| ID |
260935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl29
|
| Ensembl Gene |
ENSMUSG00000020627 |
| Gene Name |
kelch-like 29 |
| Synonyms |
Kbtbd9, A230106N14Rik |
| MMRRC Submission |
040471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R2883 (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 5134036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 767
(D767G)
|
| 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: D767G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: D767G
| 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: D706G
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3) |
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
G |
A |
8: 122,266,644 (GRCm39) |
P81S |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,244,113 (GRCm39) |
Q790R |
probably benign |
Het |
| Asic2 |
T |
A |
11: 80,784,839 (GRCm39) |
I367F |
possibly damaging |
Het |
| Asxl2 |
T |
C |
12: 3,551,830 (GRCm39) |
S1191P |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,989,602 (GRCm39) |
S374P |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,773,222 (GRCm39) |
F167I |
probably damaging |
Het |
| Cimip3 |
C |
A |
17: 47,747,650 (GRCm39) |
V32F |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,814,135 (GRCm39) |
L94P |
probably benign |
Het |
| Cped1 |
A |
T |
6: 22,143,978 (GRCm39) |
T575S |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,302,072 (GRCm39) |
Y702C |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,560 (GRCm39) |
N84I |
probably damaging |
Het |
| Dse |
A |
T |
10: 34,028,503 (GRCm39) |
D862E |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,810,985 (GRCm39) |
T1023S |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,034,953 (GRCm39) |
N2868K |
probably damaging |
Het |
| Fgd5 |
G |
A |
6: 91,964,090 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,821,868 (GRCm39) |
T5867I |
possibly damaging |
Het |
| Fuca2 |
A |
G |
10: 13,381,695 (GRCm39) |
T203A |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,795,874 (GRCm39) |
I131V |
probably damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,040,759 (GRCm39) |
V122A |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,322,105 (GRCm39) |
T938I |
possibly damaging |
Het |
| Mageb3 |
A |
G |
2: 121,784,847 (GRCm39) |
V285A |
probably benign |
Het |
| Myoc |
A |
G |
1: 162,467,185 (GRCm39) |
E118G |
possibly damaging |
Het |
| Nedd1 |
A |
C |
10: 92,530,860 (GRCm39) |
F410V |
probably damaging |
Het |
| Nipal1 |
A |
T |
5: 72,825,073 (GRCm39) |
K255N |
probably damaging |
Het |
| Npr3 |
T |
C |
15: 11,883,410 (GRCm39) |
K340E |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,473,155 (GRCm39) |
G1023C |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,284,545 (GRCm39) |
L188P |
probably damaging |
Het |
| Or51ac3 |
T |
C |
7: 103,214,471 (GRCm39) |
N5S |
probably benign |
Het |
| Or5v1 |
C |
T |
17: 37,810,271 (GRCm39) |
S243F |
probably damaging |
Het |
| Or9q1 |
T |
A |
19: 13,805,239 (GRCm39) |
I174F |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,604,842 (GRCm39) |
T2188M |
probably damaging |
Het |
| Pck1 |
G |
A |
2: 173,000,368 (GRCm39) |
V600I |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,454,708 (GRCm39) |
C42R |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,861,469 (GRCm39) |
R53H |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,938,995 (GRCm39) |
H426Y |
probably damaging |
Het |
| Retreg2 |
C |
T |
1: 75,123,356 (GRCm39) |
P428L |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,701,152 (GRCm39) |
S1883I |
probably damaging |
Het |
| Rinl |
CGGG |
CGGGGG |
7: 28,497,083 (GRCm39) |
|
probably null |
Het |
| Rora |
T |
C |
9: 69,282,717 (GRCm39) |
S356P |
probably damaging |
Het |
| Slc31a1 |
T |
C |
4: 62,307,008 (GRCm39) |
V188A |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,879 (GRCm39) |
K335E |
probably damaging |
Het |
| Spata22 |
C |
A |
11: 73,235,504 (GRCm39) |
H274N |
possibly damaging |
Het |
| Srrm1 |
T |
C |
4: 135,048,722 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,803,550 (GRCm39) |
I333N |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,028,745 (GRCm39) |
Y153H |
possibly damaging |
Het |
| Tyk2 |
T |
C |
9: 21,021,883 (GRCm39) |
T825A |
probably benign |
Het |
| Usp20 |
G |
A |
2: 30,908,812 (GRCm39) |
V798M |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,038,685 (GRCm39) |
D102E |
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 |
|
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 |
PCR Primer
(F):5'- TGATGTGGTTACTTGTGCACCC -3'
(R):5'- TGTAGGTAACCCCAAAGCCC -3'
Sequencing Primer
(F):5'- GCCTCACTCCTTCAGAACC -3'
(R):5'- CCAAAGCCCAGGTGTGATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation