Incidental Mutation 'R9671:Klhl40'
| ID |
728053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl40
|
| Ensembl Gene |
ENSMUSG00000074001 |
| Gene Name |
kelch-like 40 |
| Synonyms |
2310024D23Rik, Kbtbd5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R9671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121606673-121612884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121607743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 301
(V301E)
|
| 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: V301E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: V301E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,948 (GRCm39) |
L228* |
probably null |
Het |
| Acsf2 |
T |
C |
11: 94,460,802 (GRCm39) |
D368G |
probably benign |
Het |
| Adat2 |
T |
A |
10: 13,438,452 (GRCm39) |
N177K |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,760,795 (GRCm39) |
R830M |
probably damaging |
Het |
| Apoh |
G |
A |
11: 108,286,792 (GRCm39) |
W72* |
probably null |
Het |
| Bcl2l12 |
G |
T |
7: 44,642,301 (GRCm39) |
P195Q |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,596,282 (GRCm39) |
M470V |
probably benign |
Het |
| Ccdc188 |
A |
T |
16: 18,036,268 (GRCm39) |
R79* |
probably null |
Het |
| Cd34 |
T |
A |
1: 194,641,501 (GRCm39) |
M309K |
probably damaging |
Het |
| Clec4a2 |
A |
T |
6: 123,101,942 (GRCm39) |
K32N |
possibly damaging |
Het |
| Csmd3 |
G |
T |
15: 47,845,299 (GRCm39) |
P88H |
|
Het |
| Def6 |
A |
G |
17: 28,438,755 (GRCm39) |
S154G |
probably benign |
Het |
| Dot1l |
T |
C |
10: 80,620,613 (GRCm39) |
L530P |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,951,014 (GRCm39) |
|
probably null |
Het |
| Fat3 |
G |
A |
9: 16,286,871 (GRCm39) |
A884V |
possibly damaging |
Het |
| Frem3 |
C |
A |
8: 81,339,134 (GRCm39) |
H476N |
probably benign |
Het |
| Gm3404 |
T |
C |
5: 146,463,031 (GRCm39) |
V71A |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,703,273 (GRCm39) |
S53R |
probably benign |
Het |
| Ighv13-2 |
T |
C |
12: 114,321,796 (GRCm39) |
N15D |
probably benign |
Het |
| Jak1 |
T |
C |
4: 101,034,926 (GRCm39) |
K339E |
possibly damaging |
Het |
| Klhl35 |
C |
G |
7: 99,117,702 (GRCm39) |
P82R |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,901,089 (GRCm39) |
N930I |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,603,217 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,086,908 (GRCm39) |
H852R |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,633 (GRCm39) |
H58Q |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,637,256 (GRCm39) |
D623G |
probably damaging |
Het |
| Pramel14 |
A |
C |
4: 143,719,687 (GRCm39) |
I226S |
probably benign |
Het |
| Rfxank |
T |
C |
8: 70,588,198 (GRCm39) |
T118A |
probably benign |
Het |
| Rxrb |
T |
A |
17: 34,252,020 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
G |
A |
11: 4,025,486 (GRCm39) |
V337M |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,212,217 (GRCm39) |
T98A |
probably benign |
Het |
| Ska1 |
A |
T |
18: 74,333,010 (GRCm39) |
M136K |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,000,297 (GRCm39) |
D240G |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,331 (GRCm39) |
Y199C |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,943,077 (GRCm39) |
I933N |
possibly damaging |
Het |
| Spag16 |
C |
A |
1: 69,883,495 (GRCm39) |
H75N |
probably benign |
Het |
| Spice1 |
C |
T |
16: 44,199,671 (GRCm39) |
R708C |
probably benign |
Het |
| Tet3 |
C |
A |
6: 83,381,136 (GRCm39) |
S344I |
possibly damaging |
Het |
| Trav5-4 |
A |
G |
14: 53,941,816 (GRCm39) |
E63G |
possibly damaging |
Het |
| Trp73 |
G |
A |
4: 154,148,403 (GRCm39) |
P337L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,778,359 (GRCm39) |
F1343L |
unknown |
Het |
| Vipas39 |
T |
C |
12: 87,292,985 (GRCm39) |
H320R |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,317,271 (GRCm39) |
I156V |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,345,189 (GRCm39) |
D26G |
probably damaging |
Het |
| Zscan4d |
A |
T |
7: 10,898,945 (GRCm39) |
F111I |
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 |
|
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 |
|
Z1177:Klhl40
|
UTSW |
9 |
121,609,759 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTGCTTTCCTGGAGACTC -3'
(R):5'- CACGAAGACTTGGTTCTCCTTGG -3'
Sequencing Primer
(F):5'- CTTTCCTGGAGACTCGCGTG -3'
(R):5'- TTGGTCACCAGACTGACATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation