Incidental Mutation 'R5221:Kl'
| ID |
402312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kl
|
| Ensembl Gene |
ENSMUSG00000058488 |
| Gene Name |
klotho |
| Synonyms |
alpha-kl |
| MMRRC Submission |
042794-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5221 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150876072-150917282 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 150912616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 788
(L788F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078856]
|
| AlphaFold |
O35082 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078856
AA Change: L788F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077899
Gene: ENSMUSG00000058488
AA Change: L788F
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (53/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
C |
3: 92,335,815 (GRCm39) |
I296V |
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,613 (GRCm39) |
N67S |
possibly damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,243,525 (GRCm39) |
Y134* |
probably null |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,941,784 (GRCm39) |
D34V |
probably damaging |
Het |
| C8a |
C |
T |
4: 104,703,122 (GRCm39) |
V312M |
probably damaging |
Het |
| Ccser1 |
T |
C |
6: 61,289,075 (GRCm39) |
S413P |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,498,225 (GRCm39) |
N1678S |
probably benign |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,457,071 (GRCm39) |
M148K |
possibly damaging |
Het |
| Farp2 |
T |
A |
1: 93,504,140 (GRCm39) |
C306S |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,493,032 (GRCm39) |
V1828A |
probably damaging |
Het |
| Gm6457 |
T |
C |
18: 14,703,174 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
T |
G |
8: 70,266,785 (GRCm39) |
V300G |
probably damaging |
Het |
| Gstp3 |
A |
G |
19: 4,107,607 (GRCm39) |
S186P |
probably damaging |
Het |
| Gvin-ps3 |
G |
C |
7: 105,683,181 (GRCm39) |
|
noncoding transcript |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 41,002,994 (GRCm39) |
S1932A |
possibly damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,170,488 (GRCm39) |
T234A |
probably damaging |
Het |
| Mafa |
T |
A |
15: 75,618,891 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Mesp2 |
C |
T |
7: 79,461,467 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,201,092 (GRCm39) |
Y259C |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2d3c |
A |
T |
7: 106,526,268 (GRCm39) |
S133T |
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,825 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,493 (GRCm39) |
N294D |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,148 (GRCm39) |
T192S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,741,193 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
T |
C |
6: 89,297,998 (GRCm39) |
D1760G |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,862,540 (GRCm39) |
D345E |
probably damaging |
Het |
| Ppp1r14a |
T |
A |
7: 28,988,926 (GRCm39) |
I56N |
probably damaging |
Het |
| Ppp1r1a |
G |
A |
15: 103,441,477 (GRCm39) |
P79S |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,082,305 (GRCm39) |
R1010H |
probably benign |
Het |
| Rai1 |
A |
G |
11: 60,081,423 (GRCm39) |
E1829G |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,986,935 (GRCm39) |
Y31H |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,609,280 (GRCm39) |
S69G |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,752,121 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Sltm |
T |
G |
9: 70,486,685 (GRCm39) |
L450R |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,439,404 (GRCm39) |
|
probably null |
Het |
| Tmem68 |
T |
C |
4: 3,560,561 (GRCm39) |
T208A |
possibly damaging |
Het |
| Tnc |
T |
A |
4: 63,911,534 (GRCm39) |
R1346* |
probably null |
Het |
| Tpbg |
T |
C |
9: 85,726,478 (GRCm39) |
L149P |
probably damaging |
Het |
| Trappc14 |
C |
T |
5: 138,260,502 (GRCm39) |
S308N |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,198,816 (GRCm39) |
Q585* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,085 (GRCm39) |
C733S |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,672,684 (GRCm39) |
H106Q |
probably benign |
Het |
| Wscd1 |
G |
T |
11: 71,659,501 (GRCm39) |
G194W |
possibly damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,016,887 (GRCm39) |
V870E |
possibly damaging |
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 |
|
IGL01774:Kl
|
APN |
5 |
150,911,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATATCCATCGCCTTGCAGG -3'
(R):5'- TTAGCCAGTTGAGCACTTTGC -3'
Sequencing Primer
(F):5'- GCTGACTGGATAGAACCGGC -3'
(R):5'- ACCACTGCCACCTGACTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation