Incidental Mutation 'R0735:Klb'
ID |
68222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klb
|
Ensembl Gene |
ENSMUSG00000029195 |
Gene Name |
klotho beta |
Synonyms |
betaKlotho |
MMRRC Submission |
038916-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R0735 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65505657-65541350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65537070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 800
(V800A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031096
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031096]
[ENSMUST00000205084]
|
AlphaFold |
Q99N32 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031096
AA Change: V800A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031096 Gene: ENSMUSG00000029195 AA Change: V800A
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_1
|
77 |
385 |
8.8e-96 |
PFAM |
Pfam:Glyco_hydro_1
|
374 |
506 |
1.7e-31 |
PFAM |
Pfam:Glyco_hydro_1
|
515 |
965 |
6.3e-80 |
PFAM |
transmembrane domain
|
995 |
1017 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205084
|
SMART Domains |
Protein: ENSMUSP00000145091 Gene: ENSMUSG00000029195
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_1
|
77 |
360 |
8.6e-94 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 91.8%
|
Validation Efficiency |
95% (73/77) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice display increased bile acid synthesis and excretion, resistance to gallstone formation, and slightly decreased body weight. Mice homozygous for a knock-out allele or a conditional allele activated in adipose tissue exhibit resistanceto FGF21-induced metabolic disruptions. [provided by MGI curators]
|
Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
T |
A |
14: 29,711,669 (GRCm39) |
M405K |
probably benign |
Het |
Adam10 |
G |
A |
9: 70,655,533 (GRCm39) |
V334I |
possibly damaging |
Het |
Adgra2 |
G |
T |
8: 27,607,346 (GRCm39) |
G686C |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,747,518 (GRCm39) |
I1623N |
probably damaging |
Het |
Astn1 |
A |
T |
1: 158,299,959 (GRCm39) |
T100S |
possibly damaging |
Het |
B3galt1 |
A |
C |
2: 67,948,923 (GRCm39) |
I213L |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,644,236 (GRCm39) |
K101E |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,695,038 (GRCm39) |
I1552K |
possibly damaging |
Het |
Camsap2 |
A |
G |
1: 136,220,626 (GRCm39) |
S324P |
probably damaging |
Het |
Chrnb4 |
A |
G |
9: 54,951,084 (GRCm39) |
S60P |
probably damaging |
Het |
Cpne1 |
A |
G |
2: 155,920,670 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,496,500 (GRCm39) |
|
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Cxcl15 |
T |
C |
5: 90,949,153 (GRCm39) |
M106T |
probably benign |
Het |
Cyp2c23 |
A |
T |
19: 44,005,249 (GRCm39) |
M140K |
probably damaging |
Het |
Dgke |
A |
G |
11: 88,950,901 (GRCm39) |
F104S |
probably benign |
Het |
Dhx36 |
T |
A |
3: 62,380,150 (GRCm39) |
M849L |
probably benign |
Het |
Dnah7a |
C |
T |
1: 53,583,670 (GRCm39) |
E1522K |
possibly damaging |
Het |
Edil3 |
G |
T |
13: 89,325,297 (GRCm39) |
V219F |
probably damaging |
Het |
Egln1 |
A |
G |
8: 125,675,234 (GRCm39) |
V187A |
possibly damaging |
Het |
Fam193a |
T |
C |
5: 34,596,722 (GRCm39) |
I455T |
possibly damaging |
Het |
Fdft1 |
A |
T |
14: 63,400,869 (GRCm39) |
I88N |
probably damaging |
Het |
Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
Frs2 |
T |
A |
10: 116,910,487 (GRCm39) |
S292C |
probably damaging |
Het |
Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
Gpr153 |
T |
A |
4: 152,363,830 (GRCm39) |
C83* |
probably null |
Het |
H2-Q7 |
T |
G |
17: 35,659,162 (GRCm39) |
|
probably null |
Het |
Hsp90b1 |
A |
T |
10: 86,531,612 (GRCm39) |
|
probably benign |
Het |
Kcnk1 |
C |
A |
8: 126,752,028 (GRCm39) |
N211K |
probably damaging |
Het |
Lat2 |
T |
C |
5: 134,635,637 (GRCm39) |
Y59C |
probably damaging |
Het |
Mlkl |
A |
T |
8: 112,054,433 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Mtbp |
T |
A |
15: 55,426,338 (GRCm39) |
C93* |
probably null |
Het |
Myo7a |
A |
G |
7: 97,730,387 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,449,180 (GRCm39) |
|
probably benign |
Het |
Ogfrl1 |
T |
C |
1: 23,414,835 (GRCm39) |
Q224R |
possibly damaging |
Het |
Or10j2 |
A |
G |
1: 173,098,569 (GRCm39) |
T276A |
probably benign |
Het |
Or56b2 |
A |
T |
7: 104,338,026 (GRCm39) |
H268L |
probably damaging |
Het |
Osbpl2 |
A |
G |
2: 179,792,083 (GRCm39) |
|
probably benign |
Het |
Pira13 |
T |
C |
7: 3,824,781 (GRCm39) |
T533A |
possibly damaging |
Het |
Plb1 |
C |
T |
5: 32,442,264 (GRCm39) |
T252M |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbsn |
T |
C |
6: 92,166,674 (GRCm39) |
T657A |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Rps6kb2 |
C |
A |
19: 4,207,882 (GRCm39) |
S348I |
probably benign |
Het |
Rsrp1 |
C |
T |
4: 134,651,568 (GRCm39) |
R111W |
unknown |
Het |
Ryr3 |
T |
C |
2: 112,563,327 (GRCm39) |
T2933A |
probably benign |
Het |
Scara5 |
A |
G |
14: 65,968,468 (GRCm39) |
D247G |
possibly damaging |
Het |
Slc7a11 |
C |
T |
3: 50,378,545 (GRCm39) |
S231N |
probably benign |
Het |
Sod2 |
A |
T |
17: 13,229,451 (GRCm39) |
N91Y |
probably damaging |
Het |
Spesp1 |
A |
T |
9: 62,179,967 (GRCm39) |
S314T |
probably benign |
Het |
St3gal1 |
C |
A |
15: 66,985,536 (GRCm39) |
M39I |
probably benign |
Het |
Stat6 |
A |
T |
10: 127,494,110 (GRCm39) |
I646F |
probably damaging |
Het |
Tdrd1 |
A |
T |
19: 56,854,410 (GRCm39) |
K1119* |
probably null |
Het |
Thbs2 |
A |
G |
17: 14,900,077 (GRCm39) |
I600T |
probably benign |
Het |
Tor1a |
A |
G |
2: 30,853,850 (GRCm39) |
V160A |
probably damaging |
Het |
Trdmt1 |
T |
G |
2: 13,528,249 (GRCm39) |
D104A |
probably benign |
Het |
Trim58 |
T |
C |
11: 58,542,219 (GRCm39) |
V393A |
probably benign |
Het |
Trip4 |
C |
T |
9: 65,792,200 (GRCm39) |
|
probably benign |
Het |
Trip6 |
T |
C |
5: 137,309,083 (GRCm39) |
E341G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,545,539 (GRCm39) |
I32595F |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,155,339 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,596,890 (GRCm39) |
V3877I |
probably benign |
Het |
Vmn1r29 |
G |
T |
6: 58,284,717 (GRCm39) |
G146C |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,315,707 (GRCm39) |
V704A |
probably benign |
Het |
Vmn2r7 |
C |
T |
3: 64,623,788 (GRCm39) |
M268I |
probably benign |
Het |
Wnt7b |
G |
A |
15: 85,421,696 (GRCm39) |
T248M |
probably damaging |
Het |
Xab2 |
G |
A |
8: 3,663,649 (GRCm39) |
P394S |
possibly damaging |
Het |
Zfp663 |
A |
G |
2: 165,200,995 (GRCm39) |
V13A |
probably damaging |
Het |
|
Other mutations in Klb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Klb
|
APN |
5 |
65,529,717 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL00821:Klb
|
APN |
5 |
65,529,492 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01082:Klb
|
APN |
5 |
65,533,283 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01637:Klb
|
APN |
5 |
65,533,022 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02098:Klb
|
APN |
5 |
65,537,228 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03113:Klb
|
APN |
5 |
65,540,813 (GRCm39) |
missense |
probably benign |
0.00 |
1mM(1):Klb
|
UTSW |
5 |
65,505,993 (GRCm39) |
missense |
probably damaging |
1.00 |
P0016:Klb
|
UTSW |
5 |
65,537,266 (GRCm39) |
nonsense |
probably null |
|
R0268:Klb
|
UTSW |
5 |
65,506,180 (GRCm39) |
missense |
probably benign |
0.02 |
R0383:Klb
|
UTSW |
5 |
65,529,842 (GRCm39) |
splice site |
probably null |
|
R0676:Klb
|
UTSW |
5 |
65,536,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0972:Klb
|
UTSW |
5 |
65,506,089 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1051:Klb
|
UTSW |
5 |
65,536,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Klb
|
UTSW |
5 |
65,536,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R1372:Klb
|
UTSW |
5 |
65,506,089 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1403:Klb
|
UTSW |
5 |
65,506,089 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1403:Klb
|
UTSW |
5 |
65,506,089 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1446:Klb
|
UTSW |
5 |
65,506,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Klb
|
UTSW |
5 |
65,506,089 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1743:Klb
|
UTSW |
5 |
65,533,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R1801:Klb
|
UTSW |
5 |
65,506,578 (GRCm39) |
missense |
probably null |
0.90 |
R1804:Klb
|
UTSW |
5 |
65,537,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Klb
|
UTSW |
5 |
65,506,180 (GRCm39) |
missense |
probably benign |
0.02 |
R1967:Klb
|
UTSW |
5 |
65,529,417 (GRCm39) |
missense |
probably damaging |
0.98 |
R3420:Klb
|
UTSW |
5 |
65,529,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R4397:Klb
|
UTSW |
5 |
65,537,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R4490:Klb
|
UTSW |
5 |
65,533,137 (GRCm39) |
missense |
probably benign |
0.02 |
R4491:Klb
|
UTSW |
5 |
65,533,137 (GRCm39) |
missense |
probably benign |
0.02 |
R4547:Klb
|
UTSW |
5 |
65,537,271 (GRCm39) |
missense |
probably benign |
0.00 |
R4878:Klb
|
UTSW |
5 |
65,505,833 (GRCm39) |
missense |
probably damaging |
0.99 |
R5269:Klb
|
UTSW |
5 |
65,506,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R5418:Klb
|
UTSW |
5 |
65,540,813 (GRCm39) |
missense |
probably benign |
0.00 |
R5453:Klb
|
UTSW |
5 |
65,540,728 (GRCm39) |
missense |
probably benign |
0.08 |
R5541:Klb
|
UTSW |
5 |
65,536,577 (GRCm39) |
missense |
probably benign |
0.27 |
R5672:Klb
|
UTSW |
5 |
65,537,292 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5841:Klb
|
UTSW |
5 |
65,536,667 (GRCm39) |
nonsense |
probably null |
|
R6088:Klb
|
UTSW |
5 |
65,506,356 (GRCm39) |
missense |
probably benign |
0.07 |
R6807:Klb
|
UTSW |
5 |
65,536,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R6955:Klb
|
UTSW |
5 |
65,536,431 (GRCm39) |
nonsense |
probably null |
|
R7068:Klb
|
UTSW |
5 |
65,536,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R7284:Klb
|
UTSW |
5 |
65,540,821 (GRCm39) |
missense |
probably benign |
0.01 |
R7322:Klb
|
UTSW |
5 |
65,540,707 (GRCm39) |
missense |
probably benign |
0.44 |
R7346:Klb
|
UTSW |
5 |
65,505,974 (GRCm39) |
nonsense |
probably null |
|
R7366:Klb
|
UTSW |
5 |
65,529,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R8134:Klb
|
UTSW |
5 |
65,540,958 (GRCm39) |
missense |
probably benign |
0.00 |
R8243:Klb
|
UTSW |
5 |
65,536,338 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8409:Klb
|
UTSW |
5 |
65,536,878 (GRCm39) |
missense |
probably damaging |
0.96 |
R8971:Klb
|
UTSW |
5 |
65,533,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R9193:Klb
|
UTSW |
5 |
65,529,368 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9305:Klb
|
UTSW |
5 |
65,505,988 (GRCm39) |
nonsense |
probably null |
|
R9390:Klb
|
UTSW |
5 |
65,533,044 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9531:Klb
|
UTSW |
5 |
65,540,948 (GRCm39) |
missense |
|
|
R9768:Klb
|
UTSW |
5 |
65,537,373 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Klb
|
UTSW |
5 |
65,506,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAACCTGCCAACCCCTTTGTG -3'
(R):5'- ACCTTTCAGAGCCTCCTGGACATAC -3'
Sequencing Primer
(F):5'- GGATTCACACTGGAAGGCAG -3'
(R):5'- CCTGGACATACTTCTCCAAGTAG -3'
|
Posted On |
2013-09-03 |