Incidental Mutation 'IGL00473:Klhl10'
| ID |
6023 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl10
|
| Ensembl Gene |
ENSMUSG00000001558 |
| Gene Name |
kelch-like 10 |
| Synonyms |
4921517C11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.401)
|
| Stock # |
IGL00473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100332743-100347848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100347240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 478
(Y478C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001599]
|
| AlphaFold |
Q9D5V2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001599
AA Change: Y478C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001599
Gene: ENSMUSG00000001558
AA Change: Y478C
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
39 |
136 |
1.09e-30 |
SMART |
|
BACK
|
141 |
244 |
6.58e-38 |
SMART |
|
Kelch
|
292 |
339 |
2.99e-7 |
SMART |
|
Kelch
|
340 |
386 |
2.66e-13 |
SMART |
|
Kelch
|
387 |
433 |
1.7e-11 |
SMART |
|
Kelch
|
434 |
480 |
1.47e-15 |
SMART |
|
Kelch
|
481 |
527 |
2.2e-14 |
SMART |
|
Kelch
|
528 |
574 |
3.6e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]
PHENOTYPE: Disruption of one allele results in haploinsufficient male infertility in which heterozygous and chimeric males have a block in spermiogenesis. Female chimeras are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arcn1 |
A |
G |
9: 44,668,444 (GRCm39) |
V264A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,045,064 (GRCm39) |
|
probably benign |
Het |
| Brpf1 |
A |
C |
6: 113,293,645 (GRCm39) |
Q571H |
probably damaging |
Het |
| C9orf72 |
C |
T |
4: 35,213,616 (GRCm39) |
G178E |
possibly damaging |
Het |
| Creb3 |
G |
T |
4: 43,565,517 (GRCm39) |
R232L |
probably benign |
Het |
| Cst5 |
G |
T |
2: 149,247,293 (GRCm39) |
S3I |
unknown |
Het |
| Cyp4a14 |
A |
G |
4: 115,347,149 (GRCm39) |
|
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,581 (GRCm39) |
Q199* |
probably null |
Het |
| Eml5 |
A |
G |
12: 98,771,751 (GRCm39) |
|
probably benign |
Het |
| Gbp6 |
T |
A |
5: 105,422,145 (GRCm39) |
K520* |
probably null |
Het |
| Gcfc2 |
T |
A |
6: 81,921,355 (GRCm39) |
C454S |
probably damaging |
Het |
| Gm9894 |
T |
A |
13: 67,913,236 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr15 |
C |
T |
16: 58,538,441 (GRCm39) |
C216Y |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,404,436 (GRCm39) |
K134E |
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,651 (GRCm39) |
I679S |
possibly damaging |
Het |
| Mapt |
A |
G |
11: 104,178,009 (GRCm39) |
D54G |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,229 (GRCm39) |
E52G |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,673,357 (GRCm39) |
F172L |
probably benign |
Het |
| Prl7b1 |
A |
T |
13: 27,788,573 (GRCm39) |
V94D |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,975,387 (GRCm39) |
T1116A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,114,767 (GRCm39) |
K709* |
probably null |
Het |
| Ruvbl1 |
A |
T |
6: 88,468,550 (GRCm39) |
R357W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,273,579 (GRCm39) |
L973P |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,023 (GRCm39) |
Y234C |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,930,072 (GRCm39) |
M1070I |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,462,512 (GRCm39) |
I889K |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,714,651 (GRCm39) |
T1046M |
probably damaging |
Het |
| Zfp978 |
A |
G |
4: 147,475,317 (GRCm39) |
N288S |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,683 (GRCm39) |
K247M |
probably damaging |
Het |
|
| Other mutations in Klhl10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Klhl10
|
APN |
11 |
100,336,244 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL00988:Klhl10
|
APN |
11 |
100,347,110 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02078:Klhl10
|
APN |
11 |
100,336,577 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03153:Klhl10
|
APN |
11 |
100,347,758 (GRCm39) |
missense |
probably benign |
|
|
R0110:Klhl10
|
UTSW |
11 |
100,347,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0532:Klhl10
|
UTSW |
11 |
100,337,937 (GRCm39) |
unclassified |
probably benign |
|
|
R1772:Klhl10
|
UTSW |
11 |
100,333,022 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4017:Klhl10
|
UTSW |
11 |
100,336,500 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4508:Klhl10
|
UTSW |
11 |
100,333,002 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4772:Klhl10
|
UTSW |
11 |
100,338,557 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4831:Klhl10
|
UTSW |
11 |
100,336,669 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5267:Klhl10
|
UTSW |
11 |
100,338,047 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7086:Klhl10
|
UTSW |
11 |
100,347,768 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8223:Klhl10
|
UTSW |
11 |
100,338,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Klhl10
|
UTSW |
11 |
100,337,962 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9288:Klhl10
|
UTSW |
11 |
100,347,719 (GRCm39) |
missense |
probably benign |
|
|
R9324:Klhl10
|
UTSW |
11 |
100,338,481 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9744:Klhl10
|
UTSW |
11 |
100,336,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Klhl10
|
UTSW |
11 |
100,332,896 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation