Incidental Mutation 'R4491:Klb'
ID |
330722 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klb
|
Ensembl Gene |
ENSMUSG00000029195 |
Gene Name |
klotho beta |
Synonyms |
betaKlotho |
MMRRC Submission |
041747-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R4491 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65505657-65541350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65533137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 482
(N482S)
|
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: N482S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000031096 Gene: ENSMUSG00000029195 AA Change: N482S
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 |
0.0795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
A |
5: 64,055,812 (GRCm39) |
P183T |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,897,540 (GRCm39) |
R682* |
probably null |
Het |
Bzw1 |
T |
A |
1: 58,443,418 (GRCm39) |
L410Q |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,839,672 (GRCm39) |
I48F |
probably damaging |
Het |
Cdhr5 |
T |
C |
7: 140,853,970 (GRCm39) |
N173D |
possibly damaging |
Het |
Cfap74 |
T |
C |
4: 155,513,628 (GRCm39) |
M480T |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,817,211 (GRCm39) |
A367T |
unknown |
Het |
Cpsf1 |
A |
C |
15: 76,481,922 (GRCm39) |
Y1064D |
possibly damaging |
Het |
Defb6 |
A |
T |
8: 19,278,090 (GRCm39) |
H54L |
probably benign |
Het |
Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
Dnai4 |
T |
C |
4: 102,923,596 (GRCm39) |
E411G |
probably benign |
Het |
Dsc3 |
T |
C |
18: 20,134,922 (GRCm39) |
T21A |
probably benign |
Het |
Epb41l1 |
G |
T |
2: 156,364,088 (GRCm39) |
D866Y |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,337,600 (GRCm39) |
M860V |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 91,966,280 (GRCm39) |
I680V |
possibly damaging |
Het |
Fnbp4 |
T |
C |
2: 90,583,312 (GRCm39) |
|
probably null |
Het |
Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
Gm14180 |
T |
A |
11: 99,621,139 (GRCm39) |
|
probably benign |
Het |
Hbb-bh2 |
T |
C |
7: 103,489,622 (GRCm39) |
T5A |
probably benign |
Het |
Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
Igsf5 |
A |
G |
16: 96,165,281 (GRCm39) |
T19A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lipo2 |
A |
C |
19: 33,699,100 (GRCm39) |
L310R |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,091,123 (GRCm39) |
H115R |
possibly damaging |
Het |
Meioc |
A |
G |
11: 102,565,746 (GRCm39) |
D398G |
possibly damaging |
Het |
Or10ag60 |
G |
A |
2: 87,437,736 (GRCm39) |
M1I |
probably null |
Het |
Or56a5 |
A |
T |
7: 104,792,983 (GRCm39) |
C172* |
probably null |
Het |
Or7a37 |
T |
C |
10: 78,806,151 (GRCm39) |
S223P |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,792,780 (GRCm39) |
T718A |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
Pla2g2c |
T |
C |
4: 138,461,719 (GRCm39) |
|
probably null |
Het |
Plch1 |
T |
C |
3: 63,648,160 (GRCm39) |
I404V |
probably damaging |
Het |
Pou2af3 |
A |
G |
9: 51,181,955 (GRCm39) |
F206L |
probably benign |
Het |
Ppp2r5c |
A |
T |
12: 110,546,956 (GRCm39) |
D522V |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Rapgef1 |
C |
T |
2: 29,609,668 (GRCm39) |
P702S |
possibly damaging |
Het |
Rasal3 |
T |
A |
17: 32,610,359 (GRCm39) |
D976V |
probably damaging |
Het |
Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,303,818 (GRCm39) |
R384* |
probably null |
Het |
Sema6a |
G |
A |
18: 47,439,524 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,016,778 (GRCm39) |
T608K |
probably damaging |
Het |
Syde1 |
C |
T |
10: 78,426,062 (GRCm39) |
R35H |
probably benign |
Het |
Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
Taf15 |
A |
T |
11: 83,375,520 (GRCm39) |
T31S |
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,432,229 (GRCm39) |
V489A |
probably damaging |
Het |
Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
Trmt9b |
G |
A |
8: 36,972,760 (GRCm39) |
C70Y |
probably damaging |
Het |
Vmn1r75 |
C |
A |
7: 11,614,909 (GRCm39) |
Q214K |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,817,475 (GRCm39) |
T1049M |
probably benign |
Het |
Zfp37 |
T |
C |
4: 62,110,365 (GRCm39) |
Q274R |
probably benign |
Het |
Zfp648 |
T |
G |
1: 154,080,873 (GRCm39) |
L344R |
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 |
R0735:Klb
|
UTSW |
5 |
65,537,070 (GRCm39) |
missense |
probably benign |
|
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 |
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'- GTGTCCTGGCACTTTGTAAAC -3'
(R):5'- AACCATACTGTATACTATCTCCCCTGG -3'
Sequencing Primer
(F):5'- GTCCTGGCACTTTGTAAACGAACTAG -3'
(R):5'- CGTGGTTAATTCAGCTGTAGCCAC -3'
|
Posted On |
2015-07-21 |