Incidental Mutation 'R6731:Klhl41'
| ID |
530046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl41
|
| Ensembl Gene |
ENSMUSG00000075307 |
| Gene Name |
kelch-like 41 |
| Synonyms |
Kbtbd10, LOC228003 |
| MMRRC Submission |
044849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R6731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69500464-69514574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69505044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 449
(I449T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100050]
|
| AlphaFold |
A2AUC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100050
AA Change: I449T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: I449T
| 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 |
|
| Meta Mutation Damage Score |
0.3241 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
G |
A |
8: 124,619,956 (GRCm39) |
T128I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,988,926 (GRCm39) |
D3403E |
possibly damaging |
Het |
| Aldoc |
T |
A |
11: 78,216,918 (GRCm39) |
D319E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,849,858 (GRCm39) |
D1108E |
possibly damaging |
Het |
| Ankrd7 |
G |
A |
6: 18,866,653 (GRCm39) |
G58S |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,796 (GRCm39) |
Y359F |
probably damaging |
Het |
| B3gnt2 |
G |
T |
11: 22,786,888 (GRCm39) |
S100* |
probably null |
Het |
| Cd46 |
T |
C |
1: 194,765,775 (GRCm39) |
|
probably null |
Het |
| Chst5 |
G |
T |
8: 112,616,676 (GRCm39) |
R315S |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,200,030 (GRCm39) |
S393P |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,217,720 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
C |
3: 82,920,208 (GRCm39) |
F329S |
probably damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,537,769 (GRCm39) |
T179A |
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,599,099 (GRCm39) |
M559K |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,830,367 (GRCm39) |
I1880N |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,443,629 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrch3 |
A |
G |
16: 32,770,790 (GRCm39) |
T131A |
probably damaging |
Het |
| Mroh6 |
T |
C |
15: 75,760,341 (GRCm39) |
T78A |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,363,294 (GRCm39) |
V326G |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,346 (GRCm39) |
Q6L |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,352,074 (GRCm39) |
I1863L |
probably damaging |
Het |
| Obi1 |
C |
T |
14: 104,716,910 (GRCm39) |
V488I |
probably benign |
Het |
| Os9 |
C |
T |
10: 126,934,412 (GRCm39) |
G408D |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,397,225 (GRCm39) |
S237P |
probably damaging |
Het |
| Pcdhb10 |
G |
A |
18: 37,546,529 (GRCm39) |
R535H |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,012,947 (GRCm39) |
I320K |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,258,318 (GRCm39) |
F101S |
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,285,200 (GRCm39) |
V534A |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,988,733 (GRCm39) |
D207E |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,477,764 (GRCm39) |
I460V |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,761,807 (GRCm39) |
Q1623H |
possibly damaging |
Het |
| Rpap1 |
T |
C |
2: 119,608,777 (GRCm39) |
N195S |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,418,149 (GRCm39) |
|
probably null |
Het |
| Scube2 |
G |
A |
7: 109,409,944 (GRCm39) |
T643M |
probably damaging |
Het |
| Sele |
C |
T |
1: 163,881,242 (GRCm39) |
L481F |
probably damaging |
Het |
| Stk32a |
A |
G |
18: 43,438,143 (GRCm39) |
Y214C |
probably damaging |
Het |
| Tex44 |
T |
A |
1: 86,354,207 (GRCm39) |
S39T |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,893,172 (GRCm39) |
M140K |
possibly damaging |
Het |
| Tox2 |
A |
G |
2: 163,162,297 (GRCm39) |
Y354C |
probably damaging |
Het |
| Trim21 |
A |
T |
7: 102,208,419 (GRCm39) |
F433L |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,920,420 (GRCm39) |
F406L |
probably damaging |
Het |
| Ubr1 |
G |
C |
2: 120,786,121 (GRCm39) |
H166Q |
probably null |
Het |
| Wnt16 |
T |
A |
6: 22,297,891 (GRCm39) |
Y252* |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,138,924 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp729a |
C |
T |
13: 67,768,265 (GRCm39) |
V655I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,074 (GRCm39) |
V217E |
possibly 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 |
|
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 |
|
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'- TGCTATGCTACGATCCTGTG -3'
(R):5'- GACCCAAGTCCCATTTCAATATG -3'
Sequencing Primer
(F):5'- CGATCCTGTGTAAGTTGACATAAGG -3'
(R):5'- GTCCCATTTCAATATGTAGGAAGGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation