Incidental Mutation 'R8838:Klhl40'
ID |
674275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl40
|
Ensembl Gene |
ENSMUSG00000074001 |
Gene Name |
kelch-like 40 |
Synonyms |
2310024D23Rik, Kbtbd5 |
MMRRC Submission |
068666-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R8838 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121606673-121612884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121609107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 424
(D424G)
|
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 |
probably benign
Transcript: ENSMUST00000098272
AA Change: D424G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095873 Gene: ENSMUSG00000074001 AA Change: D424G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
A |
11: 109,920,881 (GRCm39) |
I1498F |
probably damaging |
Het |
Aco2 |
T |
A |
15: 81,796,128 (GRCm39) |
N508K |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,297,465 (GRCm39) |
S896P |
possibly damaging |
Het |
Anapc2 |
T |
G |
2: 25,163,546 (GRCm39) |
V261G |
probably benign |
Het |
Atm |
A |
G |
9: 53,427,851 (GRCm39) |
S420P |
probably damaging |
Het |
Bag6 |
C |
T |
17: 35,363,367 (GRCm39) |
R736C |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,465,005 (GRCm39) |
T1590A |
possibly damaging |
Het |
Cacna2d3 |
C |
T |
14: 28,691,220 (GRCm39) |
C35Y |
probably benign |
Het |
Cep170b |
G |
A |
12: 112,710,159 (GRCm39) |
R1433H |
probably damaging |
Het |
Cmtm2a |
A |
G |
8: 105,008,036 (GRCm39) |
C138R |
probably damaging |
Het |
Cntnap5c |
T |
A |
17: 58,198,964 (GRCm39) |
V86E |
|
Het |
Cog7 |
A |
G |
7: 121,549,106 (GRCm39) |
I385T |
probably damaging |
Het |
Col28a1 |
A |
T |
6: 8,091,839 (GRCm39) |
|
probably null |
Het |
Dkk3 |
T |
C |
7: 111,717,542 (GRCm39) |
E309G |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,842,614 (GRCm39) |
V1411A |
probably benign |
Het |
Enox1 |
G |
T |
14: 77,819,950 (GRCm39) |
R235L |
probably benign |
Het |
Foxn1 |
T |
C |
11: 78,252,438 (GRCm39) |
N317D |
possibly damaging |
Het |
Grip2 |
G |
A |
6: 91,762,721 (GRCm39) |
|
probably benign |
Het |
Hmmr |
T |
C |
11: 40,604,854 (GRCm39) |
T406A |
probably benign |
Het |
Hpcal1 |
G |
A |
12: 17,836,197 (GRCm39) |
R9H |
probably benign |
Het |
Iglv3 |
A |
T |
16: 19,060,132 (GRCm39) |
Y65* |
probably null |
Het |
Itgal |
A |
G |
7: 126,910,433 (GRCm39) |
Y514C |
probably damaging |
Het |
Kcnk9 |
T |
C |
15: 72,418,019 (GRCm39) |
E37G |
possibly damaging |
Het |
Lbr |
A |
G |
1: 181,648,294 (GRCm39) |
L389P |
possibly damaging |
Het |
Ly9 |
A |
G |
1: 171,421,569 (GRCm39) |
Y561H |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,845,126 (GRCm39) |
F441L |
probably damaging |
Het |
Muc20 |
G |
T |
16: 32,613,829 (GRCm39) |
T516K |
possibly damaging |
Het |
Naa35 |
T |
C |
13: 59,775,775 (GRCm39) |
M551T |
probably benign |
Het |
Nkx6-2 |
T |
A |
7: 139,161,868 (GRCm39) |
T170S |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,069,337 (GRCm39) |
F413I |
|
Het |
Or10w1 |
G |
A |
19: 13,632,371 (GRCm39) |
V193M |
probably damaging |
Het |
Or1s2 |
C |
A |
19: 13,758,381 (GRCm39) |
T133K |
probably benign |
Het |
Or6c1b |
T |
G |
10: 129,273,065 (GRCm39) |
L128R |
probably damaging |
Het |
Or8k22 |
T |
C |
2: 86,163,317 (GRCm39) |
K128E |
possibly damaging |
Het |
Pcdhga10 |
C |
T |
18: 37,881,952 (GRCm39) |
T571I |
possibly damaging |
Het |
Pla2g4a |
A |
T |
1: 149,747,256 (GRCm39) |
M310K |
probably benign |
Het |
Plaa |
T |
C |
4: 94,471,791 (GRCm39) |
T353A |
probably benign |
Het |
Rapgef1 |
T |
C |
2: 29,627,458 (GRCm39) |
F1172S |
possibly damaging |
Het |
Rfx2 |
T |
C |
17: 57,087,877 (GRCm39) |
T505A |
possibly damaging |
Het |
Rfx4 |
T |
C |
10: 84,676,758 (GRCm39) |
V216A |
probably damaging |
Het |
Rps6kb2 |
G |
T |
19: 4,211,183 (GRCm39) |
A114D |
probably damaging |
Het |
Sdc2 |
T |
A |
15: 33,023,897 (GRCm39) |
L92* |
probably null |
Het |
Slc18b1 |
A |
G |
10: 23,696,764 (GRCm39) |
Y319C |
probably benign |
Het |
Slc22a15 |
A |
T |
3: 101,790,849 (GRCm39) |
Y219N |
probably damaging |
Het |
Tarbp1 |
A |
T |
8: 127,177,569 (GRCm39) |
|
probably benign |
Het |
Tfap2d |
T |
C |
1: 19,175,036 (GRCm39) |
L163P |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,193,973 (GRCm39) |
I666V |
probably benign |
Het |
Trav14-1 |
G |
T |
14: 53,792,009 (GRCm39) |
A120S |
probably damaging |
Het |
Trps1 |
T |
A |
15: 50,753,007 (GRCm39) |
N20I |
probably benign |
Het |
Txndc16 |
A |
G |
14: 45,378,028 (GRCm39) |
Y682H |
probably damaging |
Het |
Ube4a |
A |
T |
9: 44,837,261 (GRCm39) |
D991E |
probably damaging |
Het |
Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
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 |
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 |
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'- GGGAAACTTGGCTGATCTGG -3'
(R):5'- CCTCTGCTCAAGGATTATTTTCAGG -3'
Sequencing Primer
(F):5'- ATCTGGGCCAGGAGGTG -3'
(R):5'- AGGTCTTCACCCAATGGCTGTG -3'
|
Posted On |
2021-07-15 |