Incidental Mutation 'R0879:Klhl41'
ID |
81910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl41
|
Ensembl Gene |
ENSMUSG00000075307 |
Gene Name |
kelch-like 41 |
Synonyms |
Kbtbd10, LOC228003 |
MMRRC Submission |
039046-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R0879 (G1)
|
Quality Score |
205 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
69500464-69514574 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 69513827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073152]
[ENSMUST00000100050]
[ENSMUST00000102706]
|
AlphaFold |
A2AUC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073152
|
SMART Domains |
Protein: ENSMUSP00000072896 Gene: ENSMUSG00000027086
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
low complexity region
|
316 |
324 |
N/A |
INTRINSIC |
low complexity region
|
385 |
396 |
N/A |
INTRINSIC |
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
Pfam:FAST_1
|
560 |
628 |
6.6e-25 |
PFAM |
Pfam:FAST_2
|
645 |
730 |
6.4e-26 |
PFAM |
RAP
|
763 |
822 |
4.38e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100050
|
SMART Domains |
Protein: ENSMUSP00000097627 Gene: ENSMUSG00000075307
Domain | Start | End | E-Value | Type |
BTB
|
33 |
130 |
8.34e-27 |
SMART |
BACK
|
135 |
237 |
9.67e-36 |
SMART |
Kelch
|
346 |
398 |
6.71e-1 |
SMART |
Kelch
|
399 |
447 |
1.56e-5 |
SMART |
Kelch
|
448 |
495 |
2.43e-7 |
SMART |
Kelch
|
496 |
542 |
5.81e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102706
|
SMART Domains |
Protein: ENSMUSP00000099767 Gene: ENSMUSG00000027086
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
low complexity region
|
316 |
324 |
N/A |
INTRINSIC |
low complexity region
|
385 |
396 |
N/A |
INTRINSIC |
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
Pfam:FAST_1
|
530 |
600 |
2.2e-26 |
PFAM |
Pfam:FAST_2
|
614 |
701 |
4.4e-31 |
PFAM |
RAP
|
734 |
793 |
4.38e-25 |
SMART |
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.3%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015] PHENOTYPE: The gene product is involved in stabilizing proteins involved in muscle function. Homozygous knockout affects the structure of muscle fibers and their sarcomeres, resulting in neonatal death. [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 |
Aagab |
T |
A |
9: 63,524,892 (GRCm39) |
|
probably benign |
Het |
Adm |
A |
G |
7: 110,227,559 (GRCm39) |
D25G |
possibly damaging |
Het |
Adprs |
C |
T |
4: 126,210,410 (GRCm39) |
V357I |
probably benign |
Het |
Akap6 |
G |
T |
12: 52,927,582 (GRCm39) |
R164L |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,957,173 (GRCm39) |
N972S |
probably damaging |
Het |
Brd2 |
A |
T |
17: 34,332,420 (GRCm39) |
V232D |
probably benign |
Het |
C6 |
A |
G |
15: 4,792,818 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
A |
C |
7: 17,491,627 (GRCm39) |
I666L |
probably benign |
Het |
Col7a1 |
T |
C |
9: 108,805,159 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
C |
T |
11: 117,947,661 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,467,019 (GRCm39) |
V3615E |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
Enpp2 |
T |
C |
15: 54,741,326 (GRCm39) |
E324G |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,295,313 (GRCm39) |
V222A |
probably damaging |
Het |
Gm4076 |
A |
G |
13: 85,275,326 (GRCm39) |
|
noncoding transcript |
Het |
Gm4775 |
T |
C |
14: 106,338,227 (GRCm39) |
|
noncoding transcript |
Het |
Igsf9b |
T |
C |
9: 27,245,038 (GRCm39) |
S1002P |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,942,001 (GRCm39) |
S244P |
possibly damaging |
Het |
Ltbr |
A |
G |
6: 125,290,338 (GRCm39) |
|
probably benign |
Het |
Megf8 |
A |
G |
7: 25,037,896 (GRCm39) |
E804G |
possibly damaging |
Het |
Mybpc1 |
G |
A |
10: 88,407,378 (GRCm39) |
|
probably benign |
Het |
Npas4 |
T |
C |
19: 5,036,944 (GRCm39) |
R407G |
probably benign |
Het |
Oxnad1 |
T |
A |
14: 31,821,553 (GRCm39) |
Y213N |
probably damaging |
Het |
Pde6d |
A |
G |
1: 86,473,523 (GRCm39) |
F91S |
probably benign |
Het |
Pelp1 |
A |
G |
11: 70,286,123 (GRCm39) |
|
probably benign |
Het |
Plscr2 |
T |
C |
9: 92,169,846 (GRCm39) |
Y99H |
probably damaging |
Het |
Rft1 |
T |
C |
14: 30,404,705 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,860,588 (GRCm39) |
Y30C |
probably benign |
Het |
Selenbp2 |
A |
G |
3: 94,606,863 (GRCm39) |
T108A |
possibly damaging |
Het |
Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
Stra6 |
T |
C |
9: 58,042,487 (GRCm39) |
|
probably null |
Het |
Usp17le |
A |
T |
7: 104,418,854 (GRCm39) |
L96Q |
probably damaging |
Het |
Usp17le |
G |
T |
7: 104,418,855 (GRCm39) |
L96M |
possibly damaging |
Het |
Vmn1r76 |
A |
T |
7: 11,664,662 (GRCm39) |
I184N |
probably benign |
Het |
Vmn2r102 |
T |
C |
17: 19,914,454 (GRCm39) |
V673A |
probably damaging |
Het |
Wdr17 |
T |
G |
8: 55,114,516 (GRCm39) |
I667L |
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,811,218 (GRCm39) |
T609A |
probably benign |
Het |
Zfp821 |
T |
C |
8: 110,448,474 (GRCm39) |
I135T |
possibly damaging |
Het |
Zfp865 |
A |
G |
7: 5,034,342 (GRCm39) |
T776A |
probably benign |
Het |
Zp2 |
G |
T |
7: 119,734,757 (GRCm39) |
P477Q |
probably damaging |
Het |
|
Other mutations in Klhl41 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01316:Klhl41
|
APN |
2 |
69,505,068 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01622:Klhl41
|
APN |
2 |
69,508,582 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01623:Klhl41
|
APN |
2 |
69,508,582 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03237:Klhl41
|
APN |
2 |
69,500,902 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0220:Klhl41
|
UTSW |
2 |
69,500,829 (GRCm39) |
missense |
probably benign |
0.25 |
R0277:Klhl41
|
UTSW |
2 |
69,501,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R0456:Klhl41
|
UTSW |
2 |
69,500,893 (GRCm39) |
missense |
probably damaging |
0.99 |
R0485:Klhl41
|
UTSW |
2 |
69,501,600 (GRCm39) |
missense |
probably damaging |
0.97 |
R0536:Klhl41
|
UTSW |
2 |
69,500,554 (GRCm39) |
missense |
probably benign |
0.04 |
R0537:Klhl41
|
UTSW |
2 |
69,500,554 (GRCm39) |
missense |
probably benign |
0.04 |
R0552:Klhl41
|
UTSW |
2 |
69,500,554 (GRCm39) |
missense |
probably benign |
0.04 |
R0553:Klhl41
|
UTSW |
2 |
69,500,554 (GRCm39) |
missense |
probably benign |
0.04 |
R0834:Klhl41
|
UTSW |
2 |
69,508,491 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1531:Klhl41
|
UTSW |
2 |
69,501,084 (GRCm39) |
missense |
probably benign |
0.03 |
R1678:Klhl41
|
UTSW |
2 |
69,501,283 (GRCm39) |
missense |
probably benign |
0.01 |
R1792:Klhl41
|
UTSW |
2 |
69,501,146 (GRCm39) |
missense |
probably benign |
0.01 |
R1900:Klhl41
|
UTSW |
2 |
69,504,963 (GRCm39) |
splice site |
probably benign |
|
R2012:Klhl41
|
UTSW |
2 |
69,513,840 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4041:Klhl41
|
UTSW |
2 |
69,501,054 (GRCm39) |
missense |
probably benign |
0.00 |
R5223:Klhl41
|
UTSW |
2 |
69,510,171 (GRCm39) |
nonsense |
probably null |
|
R5500:Klhl41
|
UTSW |
2 |
69,513,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Klhl41
|
UTSW |
2 |
69,500,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Klhl41
|
UTSW |
2 |
69,500,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R5656:Klhl41
|
UTSW |
2 |
69,513,876 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6264:Klhl41
|
UTSW |
2 |
69,510,176 (GRCm39) |
critical splice donor site |
probably null |
|
R6678:Klhl41
|
UTSW |
2 |
69,501,188 (GRCm39) |
missense |
probably benign |
0.04 |
R6731:Klhl41
|
UTSW |
2 |
69,505,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R7586:Klhl41
|
UTSW |
2 |
69,505,068 (GRCm39) |
missense |
probably benign |
0.33 |
R7664:Klhl41
|
UTSW |
2 |
69,501,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R8158:Klhl41
|
UTSW |
2 |
69,501,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Klhl41
|
UTSW |
2 |
69,500,868 (GRCm39) |
missense |
probably benign |
0.07 |
X0021:Klhl41
|
UTSW |
2 |
69,510,050 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Klhl41
|
UTSW |
2 |
69,505,074 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGAGCTATTTACCAGGCAGGCAC -3'
(R):5'- AACTGCGTGAATCCCTGTAACCC -3'
Sequencing Primer
(F):5'- AGGCAGGCACTTTGTCTGG -3'
(R):5'- GAATCCCTGTAACCCTATGTGAATC -3'
|
Posted On |
2013-11-08 |