Incidental Mutation 'R2430:Klhl40'
ID |
250378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl40
|
Ensembl Gene |
ENSMUSG00000074001 |
Gene Name |
kelch-like 40 |
Synonyms |
2310024D23Rik, Kbtbd5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R2430 (G1)
|
Quality Score |
215 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
121606673-121612884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121609667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 484
(D484G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000098272]
[ENSMUST00000163981]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035110
|
SMART Domains |
Protein: ENSMUSP00000035110 Gene: ENSMUSG00000032523
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
63 |
448 |
2.7e-15 |
PFAM |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098272
AA Change: D484G
PolyPhen 2
Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095873 Gene: ENSMUSG00000074001 AA Change: D484G
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 |
probably benign
Transcript: ENSMUST00000163981
|
SMART Domains |
Protein: ENSMUSP00000131971 Gene: ENSMUSG00000032523
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
97 |
444 |
3.7e-16 |
PFAM |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215257
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216358
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arc |
T |
C |
15: 74,543,740 (GRCm39) |
E161G |
probably benign |
Het |
Ass1 |
A |
G |
2: 31,391,508 (GRCm39) |
H261R |
probably damaging |
Het |
Car11 |
T |
A |
7: 45,353,072 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,914,329 (GRCm39) |
H844R |
probably damaging |
Het |
Dnai2 |
A |
G |
11: 114,648,012 (GRCm39) |
|
probably benign |
Het |
Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
Knstrn |
A |
G |
2: 118,664,584 (GRCm39) |
|
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,842,494 (GRCm39) |
S1838P |
probably damaging |
Het |
Nipsnap2 |
A |
G |
5: 129,821,855 (GRCm39) |
D117G |
possibly damaging |
Het |
Nudt15 |
C |
T |
14: 73,762,742 (GRCm39) |
|
probably benign |
Het |
Or5w16 |
T |
A |
2: 87,576,999 (GRCm39) |
M153K |
possibly damaging |
Het |
Or8k35 |
A |
G |
2: 86,425,052 (GRCm39) |
I40T |
probably benign |
Het |
Pcdh20 |
T |
C |
14: 88,704,984 (GRCm39) |
D772G |
probably damaging |
Het |
Pdss1 |
T |
A |
2: 22,819,605 (GRCm39) |
Y289* |
probably null |
Het |
Phc2 |
A |
T |
4: 128,601,776 (GRCm39) |
Y77F |
probably damaging |
Het |
Ppip5k2 |
A |
T |
1: 97,662,755 (GRCm39) |
Y667N |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,859,733 (GRCm39) |
S1186P |
possibly damaging |
Het |
Prr36 |
A |
T |
8: 4,263,488 (GRCm39) |
|
probably benign |
Het |
Reck |
C |
T |
4: 43,930,202 (GRCm39) |
T592I |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,672,107 (GRCm39) |
K1015* |
probably null |
Het |
Tfrc |
T |
G |
16: 32,445,529 (GRCm39) |
Y617D |
probably damaging |
Het |
Tnfsf11 |
A |
C |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,365,933 (GRCm39) |
I334F |
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 |
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 |
R5228:Klhl40
|
UTSW |
9 |
121,606,867 (GRCm39) |
missense |
probably benign |
0.02 |
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'- ATTCAAATGGGGTGAGTCAGAC -3'
(R):5'- GCAGGGCAAAGATCATACTTG -3'
Sequencing Primer
(F):5'- TGTACGGCCACACAGTCC -3'
(R):5'- GCAGGGCAAAGATCATACTTGTTGTC -3'
|
Posted On |
2014-11-12 |