Incidental Mutation 'IGL01774:Kl'
| ID |
154051 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kl
|
| Ensembl Gene |
ENSMUSG00000058488 |
| Gene Name |
klotho |
| Synonyms |
alpha-kl |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
150876072-150917282 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 150911948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 566
(V566L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078856]
|
| AlphaFold |
O35082 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078856
AA Change: V566L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: V566L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_1
|
59 |
380 |
4.3e-99 |
PFAM |
|
Pfam:Glyco_hydro_1
|
376 |
508 |
7.9e-33 |
PFAM |
|
Pfam:Glyco_hydro_1
|
517 |
955 |
1e-79 |
PFAM |
|
transmembrane domain
|
984 |
1006 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202096
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,077,058 (GRCm39) |
D708G |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,021,024 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,197,207 (GRCm39) |
D674G |
probably damaging |
Het |
| Abr |
A |
G |
11: 76,355,125 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,619,363 (GRCm39) |
I4T |
possibly damaging |
Het |
| Btla |
A |
G |
16: 45,070,911 (GRCm39) |
N290S |
possibly damaging |
Het |
| Catip |
C |
A |
1: 74,407,642 (GRCm39) |
R325S |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,839,902 (GRCm39) |
L786P |
possibly damaging |
Het |
| Cnot8 |
A |
G |
11: 58,006,133 (GRCm39) |
I221V |
probably benign |
Het |
| Eloc |
A |
T |
1: 16,716,013 (GRCm39) |
D37E |
probably benign |
Het |
| Fabp12 |
A |
C |
3: 10,312,754 (GRCm39) |
N89K |
probably benign |
Het |
| Ficd |
G |
T |
5: 113,877,073 (GRCm39) |
R416L |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,075 (GRCm39) |
Y574H |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,540,047 (GRCm39) |
|
probably benign |
Het |
| Gatc |
G |
A |
5: 115,479,076 (GRCm39) |
Q45* |
probably null |
Het |
| Gm5414 |
T |
C |
15: 101,535,410 (GRCm39) |
D225G |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,911,795 (GRCm39) |
A592E |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,608,477 (GRCm39) |
D545V |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,692,880 (GRCm39) |
Y483C |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,112,982 (GRCm39) |
W67* |
probably null |
Het |
| Nrarp |
T |
C |
2: 25,071,298 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or52n20 |
T |
C |
7: 104,320,149 (GRCm39) |
I80T |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,020,462 (GRCm39) |
H278Q |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,753,276 (GRCm39) |
K420R |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,392 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ralgds |
C |
T |
2: 28,440,554 (GRCm39) |
Q88* |
probably null |
Het |
| Rictor |
T |
C |
15: 6,799,258 (GRCm39) |
S365P |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,871,339 (GRCm39) |
Q276* |
probably null |
Het |
| Tas2r134 |
C |
T |
2: 51,518,160 (GRCm39) |
T213I |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,148,358 (GRCm39) |
I349T |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,907,813 (GRCm39) |
S1286P |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,113 (GRCm39) |
V375A |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,889 (GRCm39) |
I229L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,776,608 (GRCm39) |
Y320H |
probably benign |
Het |
| Zfp990 |
T |
C |
4: 145,263,518 (GRCm39) |
V172A |
probably benign |
Het |
|
| Other mutations in Kl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00800:Kl
|
APN |
5 |
150,904,233 (GRCm39) |
nonsense |
probably null |
|
|
IGL00815:Kl
|
APN |
5 |
150,904,315 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL00840:Kl
|
APN |
5 |
150,904,252 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01347:Kl
|
APN |
5 |
150,904,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Kl
|
APN |
5 |
150,904,334 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01937:Kl
|
APN |
5 |
150,912,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01945:Kl
|
APN |
5 |
150,912,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02510:Kl
|
APN |
5 |
150,912,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Kl
|
APN |
5 |
150,904,450 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03028:Kl
|
APN |
5 |
150,915,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Kl
|
APN |
5 |
150,906,200 (GRCm39) |
nonsense |
probably null |
|
|
anatolia
|
UTSW |
5 |
150,912,318 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
ararat
|
UTSW |
5 |
150,912,318 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Turkic
|
UTSW |
5 |
150,876,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Kl
|
UTSW |
5 |
150,876,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Kl
|
UTSW |
5 |
150,904,409 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0723:Kl
|
UTSW |
5 |
150,876,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:Kl
|
UTSW |
5 |
150,905,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1205:Kl
|
UTSW |
5 |
150,904,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Kl
|
UTSW |
5 |
150,912,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1529:Kl
|
UTSW |
5 |
150,912,406 (GRCm39) |
missense |
probably benign |
|
|
R1588:Kl
|
UTSW |
5 |
150,906,097 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1714:Kl
|
UTSW |
5 |
150,876,798 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1748:Kl
|
UTSW |
5 |
150,904,450 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1885:Kl
|
UTSW |
5 |
150,876,959 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1920:Kl
|
UTSW |
5 |
150,906,132 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2156:Kl
|
UTSW |
5 |
150,912,425 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2926:Kl
|
UTSW |
5 |
150,876,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Kl
|
UTSW |
5 |
150,904,312 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5221:Kl
|
UTSW |
5 |
150,912,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Kl
|
UTSW |
5 |
150,911,931 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5726:Kl
|
UTSW |
5 |
150,915,003 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5727:Kl
|
UTSW |
5 |
150,915,003 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5735:Kl
|
UTSW |
5 |
150,915,003 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5797:Kl
|
UTSW |
5 |
150,915,003 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5933:Kl
|
UTSW |
5 |
150,912,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6075:Kl
|
UTSW |
5 |
150,876,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6076:Kl
|
UTSW |
5 |
150,876,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6077:Kl
|
UTSW |
5 |
150,876,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Kl
|
UTSW |
5 |
150,912,318 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6150:Kl
|
UTSW |
5 |
150,912,318 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6151:Kl
|
UTSW |
5 |
150,912,318 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6158:Kl
|
UTSW |
5 |
150,912,318 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6236:Kl
|
UTSW |
5 |
150,876,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6609:Kl
|
UTSW |
5 |
150,912,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7489:Kl
|
UTSW |
5 |
150,876,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Kl
|
UTSW |
5 |
150,906,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9026:Kl
|
UTSW |
5 |
150,876,491 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9087:Kl
|
UTSW |
5 |
150,911,957 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9380:Kl
|
UTSW |
5 |
150,912,342 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
RF005:Kl
|
UTSW |
5 |
150,876,885 (GRCm39) |
missense |
probably benign |
0.07 |
|
RF024:Kl
|
UTSW |
5 |
150,876,885 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0066:Kl
|
UTSW |
5 |
150,915,080 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation