Incidental Mutation 'R5228:Klhl40'
ID |
402741 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl40
|
Ensembl Gene |
ENSMUSG00000074001 |
Gene Name |
kelch-like 40 |
Synonyms |
2310024D23Rik, Kbtbd5 |
MMRRC Submission |
042801-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R5228 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
121606673-121612884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121606867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 9
(E9G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098272]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098272
AA Change: E9G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000095873 Gene: ENSMUSG00000074001 AA Change: E9G
Domain | Start | End | E-Value | Type |
BTB
|
33 |
128 |
4.61e-29 |
SMART |
BACK
|
133 |
239 |
9.46e-30 |
SMART |
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
Blast:BTB
|
300 |
355 |
2e-27 |
BLAST |
Kelch
|
360 |
412 |
1.77e0 |
SMART |
Kelch
|
413 |
462 |
1.29e-2 |
SMART |
Kelch
|
463 |
510 |
4.68e-9 |
SMART |
Kelch
|
511 |
557 |
2.06e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215257
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216358
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012] PHENOTYPE: Homozygous disruption of this gene results in postnatal growth retardation, abnormal sarcomere morphology, skeletal muscle dysfunction, and complete postnatal lethality. Homozygotes for a null allele develop a nemaline-like myopathy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,303,545 (GRCm39) |
|
probably null |
Het |
Agrn |
G |
T |
4: 156,251,403 (GRCm39) |
A1864D |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,741,820 (GRCm39) |
S751P |
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,568,196 (GRCm39) |
V201A |
probably damaging |
Het |
C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,476,768 (GRCm39) |
|
probably null |
Het |
Frmpd1 |
T |
C |
4: 45,284,322 (GRCm39) |
S1048P |
probably damaging |
Het |
Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
Gbp8 |
G |
T |
5: 105,164,051 (GRCm39) |
Q416K |
probably benign |
Het |
Gldn |
C |
T |
9: 54,242,003 (GRCm39) |
T319I |
probably damaging |
Het |
Gli2 |
T |
A |
1: 118,763,936 (GRCm39) |
D1405V |
probably damaging |
Het |
Gtsf2 |
A |
G |
15: 103,353,042 (GRCm39) |
Y45H |
probably damaging |
Het |
Hmcn1 |
C |
A |
1: 150,522,452 (GRCm39) |
V3483F |
probably benign |
Het |
Hspa12b |
T |
C |
2: 130,984,884 (GRCm39) |
V385A |
possibly damaging |
Het |
Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
Inpp4b |
C |
G |
8: 82,494,744 (GRCm39) |
P53R |
probably damaging |
Het |
Ipo7 |
T |
A |
7: 109,645,969 (GRCm39) |
C504S |
probably benign |
Het |
Iws1 |
A |
G |
18: 32,221,314 (GRCm39) |
D549G |
probably damaging |
Het |
Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,635,439 (GRCm39) |
V810A |
probably damaging |
Het |
Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
N4bp2 |
T |
C |
5: 65,964,861 (GRCm39) |
V970A |
probably benign |
Het |
Pira2 |
T |
A |
7: 3,847,373 (GRCm39) |
K105N |
probably benign |
Het |
Pml |
G |
A |
9: 58,127,280 (GRCm39) |
R61C |
probably damaging |
Het |
Pms2 |
T |
C |
5: 143,860,415 (GRCm39) |
L76P |
probably damaging |
Het |
Rlbp1 |
T |
G |
7: 79,027,082 (GRCm39) |
T193P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGG |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sh3rf2 |
T |
C |
18: 42,286,246 (GRCm39) |
S548P |
possibly damaging |
Het |
Slc4a4 |
A |
G |
5: 89,304,384 (GRCm39) |
D609G |
possibly damaging |
Het |
Slk |
A |
T |
19: 47,613,771 (GRCm39) |
I876F |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,740,156 (GRCm39) |
P432S |
probably benign |
Het |
Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
Topors |
G |
C |
4: 40,262,367 (GRCm39) |
L306V |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,929,844 (GRCm39) |
S171T |
probably damaging |
Het |
Ube2m |
G |
T |
7: 12,769,697 (GRCm39) |
|
probably benign |
Het |
Vmn1r37 |
T |
C |
6: 66,709,282 (GRCm39) |
*266Q |
probably null |
Het |
Vmn2r34 |
T |
C |
7: 7,675,340 (GRCm39) |
T683A |
probably damaging |
Het |
|
Other mutations in Klhl40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01391:Klhl40
|
APN |
9 |
121,607,983 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02123:Klhl40
|
APN |
9 |
121,608,989 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03059:Klhl40
|
APN |
9 |
121,607,203 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03124:Klhl40
|
APN |
9 |
121,609,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03204:Klhl40
|
APN |
9 |
121,611,696 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03366:Klhl40
|
APN |
9 |
121,612,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Klhl40
|
UTSW |
9 |
121,607,133 (GRCm39) |
missense |
probably damaging |
0.98 |
R1735:Klhl40
|
UTSW |
9 |
121,609,004 (GRCm39) |
missense |
probably benign |
0.00 |
R2430:Klhl40
|
UTSW |
9 |
121,609,667 (GRCm39) |
missense |
possibly damaging |
0.57 |
R3685:Klhl40
|
UTSW |
9 |
121,611,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R3839:Klhl40
|
UTSW |
9 |
121,609,482 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3929:Klhl40
|
UTSW |
9 |
121,609,742 (GRCm39) |
missense |
probably benign |
|
R4326:Klhl40
|
UTSW |
9 |
121,607,956 (GRCm39) |
missense |
probably benign |
0.37 |
R4328:Klhl40
|
UTSW |
9 |
121,607,956 (GRCm39) |
missense |
probably benign |
0.37 |
R4664:Klhl40
|
UTSW |
9 |
121,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Klhl40
|
UTSW |
9 |
121,607,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R6198:Klhl40
|
UTSW |
9 |
121,607,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Klhl40
|
UTSW |
9 |
121,607,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R7992:Klhl40
|
UTSW |
9 |
121,607,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Klhl40
|
UTSW |
9 |
121,607,623 (GRCm39) |
missense |
probably benign |
0.14 |
R8544:Klhl40
|
UTSW |
9 |
121,607,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R8669:Klhl40
|
UTSW |
9 |
121,607,088 (GRCm39) |
missense |
probably benign |
0.01 |
R8838:Klhl40
|
UTSW |
9 |
121,609,107 (GRCm39) |
missense |
probably benign |
|
R9239:Klhl40
|
UTSW |
9 |
121,607,637 (GRCm39) |
missense |
probably benign |
0.06 |
R9261:Klhl40
|
UTSW |
9 |
121,609,002 (GRCm39) |
missense |
probably benign |
|
R9402:Klhl40
|
UTSW |
9 |
121,609,482 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9650:Klhl40
|
UTSW |
9 |
121,609,083 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9671:Klhl40
|
UTSW |
9 |
121,607,743 (GRCm39) |
missense |
probably benign |
|
Z1177:Klhl40
|
UTSW |
9 |
121,609,759 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCCTCTTACAGGTTCTGGG -3'
(R):5'- TGTGTACAGGTAGTGCAGC -3'
Sequencing Primer
(F):5'- GGCATCCTCTATATATAGCCCAGGG -3'
(R):5'- TGTACAGGTAGTGCAGCACCTG -3'
|
Posted On |
2016-07-22 |