Incidental Mutation 'R0537:Klhl41'
| ID |
49486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl41
|
| Ensembl Gene |
ENSMUSG00000075307 |
| Gene Name |
kelch-like 41 |
| Synonyms |
Kbtbd10, LOC228003 |
| MMRRC Submission |
038729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R0537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69500464-69514574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69500554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 5
(R5Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074963]
[ENSMUST00000100050]
[ENSMUST00000112286]
[ENSMUST00000134659]
|
| AlphaFold |
A2AUC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074963
|
| SMART Domains |
Protein: ENSMUSP00000074494
Gene: ENSMUSG00000063145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1448
|
7 |
339 |
6.2e-161 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100050
AA Change: R5Q
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: R5Q
| 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: ENSMUST00000112286
|
| SMART Domains |
Protein: ENSMUSP00000107905
Gene: ENSMUSG00000063145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1448
|
6 |
208 |
1.6e-100 |
PFAM |
|
Pfam:DUF1448
|
206 |
319 |
9.9e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127806
|
| SMART Domains |
Protein: ENSMUSP00000121691
Gene: ENSMUSG00000063145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1448
|
22 |
90 |
9.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134659
|
| SMART Domains |
Protein: ENSMUSP00000119377
Gene: ENSMUSG00000063145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1448
|
6 |
88 |
3.1e-36 |
PFAM |
|
| Meta Mutation Damage Score |
0.0582 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (53/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
T |
14: 35,818,657 (GRCm39) |
K218N |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,619,652 (GRCm39) |
E156G |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,094,224 (GRCm39) |
N973K |
probably damaging |
Het |
| B4galt3 |
T |
C |
1: 171,101,821 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
T |
C |
14: 34,165,769 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
T |
17: 85,702,087 (GRCm39) |
I184F |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,737 (GRCm39) |
Y163C |
probably damaging |
Het |
| Ccdc9 |
A |
G |
7: 16,014,701 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
T |
1: 160,888,318 (GRCm39) |
C201S |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,312,767 (GRCm39) |
S194R |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,148,941 (GRCm39) |
D1473G |
probably benign |
Het |
| Dpm2 |
T |
A |
2: 32,462,961 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
C |
18: 20,591,628 (GRCm39) |
S456P |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,089,425 (GRCm39) |
S195P |
probably damaging |
Het |
| Heatr6 |
G |
T |
11: 83,670,290 (GRCm39) |
E948* |
probably null |
Het |
| Itgal |
G |
A |
7: 126,910,445 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,103 (GRCm39) |
T172S |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,840,604 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,975,562 (GRCm39) |
F121S |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,622,817 (GRCm39) |
R1966W |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,256 (GRCm39) |
F247L |
possibly damaging |
Het |
| Nebl |
G |
T |
2: 17,409,026 (GRCm39) |
D392E |
possibly damaging |
Het |
| Notch2 |
C |
A |
3: 98,024,057 (GRCm39) |
N840K |
possibly damaging |
Het |
| Nubp1 |
T |
C |
16: 10,240,678 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,577,017 (GRCm39) |
Q159L |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,444 (GRCm39) |
S167P |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,897 (GRCm39) |
S455T |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,184,516 (GRCm39) |
E828G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rala |
A |
T |
13: 18,063,233 (GRCm39) |
N119K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,975,362 (GRCm39) |
V1149E |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,715,501 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rps18-ps6 |
A |
T |
13: 97,897,071 (GRCm39) |
F9Y |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,431,752 (GRCm39) |
D635E |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,116 (GRCm39) |
T335A |
possibly damaging |
Het |
| Slc11a2 |
C |
T |
15: 100,303,679 (GRCm39) |
G185R |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,967 (GRCm39) |
R274H |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,032,618 (GRCm39) |
V2276A |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Tmem168 |
C |
A |
6: 13,603,360 (GRCm39) |
C2F |
probably damaging |
Het |
| Tmem80 |
A |
G |
7: 140,913,609 (GRCm39) |
Y13C |
probably damaging |
Het |
| Try4 |
T |
A |
6: 41,281,296 (GRCm39) |
N79K |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,225,318 (GRCm39) |
N798K |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,813 (GRCm39) |
|
probably benign |
Het |
| Zfp30 |
A |
T |
7: 29,492,160 (GRCm39) |
E138V |
probably damaging |
Het |
| Zfp366 |
A |
C |
13: 99,365,786 (GRCm39) |
T316P |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,883,621 (GRCm39) |
H162R |
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 |
|
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 |
|
R0879:Klhl41
|
UTSW |
2 |
69,513,827 (GRCm39) |
unclassified |
probably benign |
|
|
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'- AGCTGAACAGCAGCACTCCTTTCC -3'
(R):5'- ATCCACGTTGTCTAGGGCTACCTC -3'
Sequencing Primer
(F):5'- CCTAAATTCCCGTTGTTAGAGC -3'
(R):5'- GTCTAGGGCTACCTCCTTTTTTTTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation