Incidental Mutation 'IGL01637:Klb'
ID |
93085 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klb
|
Ensembl Gene |
ENSMUSG00000029195 |
Gene Name |
klotho beta |
Synonyms |
betaKlotho |
Accession Numbers |
Genbank: NM_031180.2; Ensembl: ENSMUST00000031096;
MGI:1932466
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
IGL01637
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
65348314-65384007 bp(+) (GRCm38) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
G to A
at 65375679 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031096
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031096]
[ENSMUST00000205084]
|
AlphaFold |
Q99N32 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031096
|
SMART Domains |
Protein: ENSMUSP00000031096 Gene: ENSMUSG00000029195
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
Strain: 3587748
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
T |
7: 28,904,684 (GRCm38) |
I384N |
probably damaging |
Het |
Adsl |
G |
T |
15: 80,948,700 (GRCm38) |
Q51H |
probably null |
Het |
Apcdd1 |
A |
G |
18: 62,937,286 (GRCm38) |
E208G |
probably damaging |
Het |
Arrdc4 |
G |
A |
7: 68,744,832 (GRCm38) |
R155* |
probably null |
Het |
Atp9b |
T |
C |
18: 80,756,455 (GRCm38) |
E823G |
probably benign |
Het |
Bmp1 |
A |
G |
14: 70,492,461 (GRCm38) |
W468R |
probably damaging |
Het |
C6 |
A |
G |
15: 4,759,917 (GRCm38) |
I281M |
possibly damaging |
Het |
Ccdc88b |
T |
C |
19: 6,846,710 (GRCm38) |
T1392A |
probably benign |
Het |
Dhx34 |
G |
T |
7: 16,205,473 (GRCm38) |
S665Y |
probably damaging |
Het |
Dock1 |
A |
T |
7: 135,137,813 (GRCm38) |
|
probably null |
Het |
Dpp7 |
T |
C |
2: 25,354,613 (GRCm38) |
N252S |
probably benign |
Het |
Dyrk2 |
A |
G |
10: 118,860,507 (GRCm38) |
V282A |
probably damaging |
Het |
Edrf1 |
T |
C |
7: 133,650,525 (GRCm38) |
L401P |
probably damaging |
Het |
Epc1 |
A |
G |
18: 6,439,724 (GRCm38) |
V150A |
probably benign |
Het |
Fam170a |
A |
T |
18: 50,281,667 (GRCm38) |
M127L |
possibly damaging |
Het |
Fam19a3 |
C |
T |
3: 104,773,079 (GRCm38) |
V75M |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,777,205 (GRCm38) |
T277S |
probably damaging |
Het |
Galntl5 |
T |
C |
5: 25,189,825 (GRCm38) |
|
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,598,312 (GRCm38) |
N56S |
probably damaging |
Het |
Gfm2 |
T |
A |
13: 97,150,409 (GRCm38) |
V172E |
probably damaging |
Het |
Gm10419 |
T |
C |
5: 108,372,358 (GRCm38) |
|
probably benign |
Het |
Gm7293 |
A |
G |
9: 51,623,606 (GRCm38) |
|
noncoding transcript |
Het |
Gstm3 |
T |
C |
3: 107,967,633 (GRCm38) |
E101G |
probably damaging |
Het |
Ifnlr1 |
T |
C |
4: 135,686,545 (GRCm38) |
W2R |
possibly damaging |
Het |
Ighv13-1 |
A |
T |
12: 114,267,733 (GRCm38) |
|
probably benign |
Het |
Ighv7-1 |
T |
A |
12: 113,896,503 (GRCm38) |
I90F |
possibly damaging |
Het |
Itga2b |
A |
G |
11: 102,455,583 (GRCm38) |
L1009P |
probably damaging |
Het |
Kif1a |
A |
G |
1: 93,039,853 (GRCm38) |
V1112A |
possibly damaging |
Het |
Kif5a |
A |
T |
10: 127,245,368 (GRCm38) |
D232E |
possibly damaging |
Het |
Lrriq1 |
G |
A |
10: 103,215,628 (GRCm38) |
A421V |
probably benign |
Het |
Mdga1 |
G |
A |
17: 29,839,871 (GRCm38) |
R721C |
probably damaging |
Het |
Mrpl48 |
G |
T |
7: 100,550,532 (GRCm38) |
|
probably benign |
Het |
Myo18b |
T |
A |
5: 112,840,629 (GRCm38) |
R1030S |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,547,120 (GRCm38) |
H2101Q |
probably damaging |
Het |
Nlrp3 |
C |
A |
11: 59,549,378 (GRCm38) |
L594I |
probably damaging |
Het |
Notch2 |
C |
T |
3: 98,146,060 (GRCm38) |
T2013I |
probably damaging |
Het |
Olfr1018 |
A |
T |
2: 85,822,988 (GRCm38) |
T6S |
probably benign |
Het |
Olfr131 |
G |
A |
17: 38,082,103 (GRCm38) |
L292F |
possibly damaging |
Het |
Olfr593 |
C |
A |
7: 103,212,177 (GRCm38) |
R95S |
probably benign |
Het |
Olfr812 |
A |
G |
10: 129,842,610 (GRCm38) |
L144P |
probably benign |
Het |
Olfr845 |
T |
C |
9: 19,338,964 (GRCm38) |
F168S |
probably damaging |
Het |
Panx3 |
T |
C |
9: 37,664,056 (GRCm38) |
D170G |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,540,034 (GRCm38) |
S783G |
unknown |
Het |
Pde3b |
T |
A |
7: 114,526,901 (GRCm38) |
L790* |
probably null |
Het |
Pik3r2 |
T |
C |
8: 70,772,348 (GRCm38) |
|
probably benign |
Het |
Rassf4 |
A |
G |
6: 116,641,690 (GRCm38) |
F211L |
probably damaging |
Het |
Rbl2 |
C |
T |
8: 91,106,438 (GRCm38) |
P666S |
probably benign |
Het |
Rnf123 |
A |
G |
9: 108,058,238 (GRCm38) |
F979L |
probably damaging |
Het |
Rock2 |
T |
A |
12: 16,965,171 (GRCm38) |
D788E |
probably benign |
Het |
Serpina3b |
A |
G |
12: 104,132,957 (GRCm38) |
T244A |
probably benign |
Het |
Setd1b |
T |
C |
5: 123,148,513 (GRCm38) |
S541P |
unknown |
Het |
Slc12a4 |
T |
C |
8: 105,960,707 (GRCm38) |
D60G |
possibly damaging |
Het |
Stac2 |
T |
C |
11: 98,041,354 (GRCm38) |
E241G |
probably benign |
Het |
Tas2r115 |
A |
G |
6: 132,737,629 (GRCm38) |
Y120H |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,370,085 (GRCm38) |
F450I |
probably benign |
Het |
Txnl1 |
A |
T |
18: 63,674,191 (GRCm38) |
I198N |
probably damaging |
Het |
Ubr2 |
A |
T |
17: 46,956,654 (GRCm38) |
M1049K |
probably damaging |
Het |
Ugt2b5 |
T |
C |
5: 87,139,900 (GRCm38) |
E136G |
probably benign |
Het |
Unc13b |
C |
T |
4: 43,241,066 (GRCm38) |
T3623I |
probably damaging |
Het |
Usp13 |
T |
A |
3: 32,919,064 (GRCm38) |
S797T |
probably benign |
Het |
Vmn1r173 |
A |
T |
7: 23,702,948 (GRCm38) |
T203S |
probably damaging |
Het |
Vwf |
T |
A |
6: 125,645,736 (GRCm38) |
I1718N |
probably damaging |
Het |
Zfr |
A |
G |
15: 12,159,646 (GRCm38) |
H676R |
probably benign |
Het |
|
Other mutations in Klb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Klb
|
APN |
5 |
65,372,374 (GRCm38) |
missense |
possibly damaging |
0.90 |
IGL00821:Klb
|
APN |
5 |
65,372,149 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01082:Klb
|
APN |
5 |
65,375,940 (GRCm38) |
missense |
possibly damaging |
0.71 |
IGL02098:Klb
|
APN |
5 |
65,379,885 (GRCm38) |
missense |
probably benign |
0.21 |
IGL03113:Klb
|
APN |
5 |
65,383,470 (GRCm38) |
missense |
probably benign |
0.00 |
1mM(1):Klb
|
UTSW |
5 |
65,348,650 (GRCm38) |
missense |
probably damaging |
1.00 |
P0016:Klb
|
UTSW |
5 |
65,379,923 (GRCm38) |
nonsense |
probably null |
|
R0268:Klb
|
UTSW |
5 |
65,348,837 (GRCm38) |
missense |
probably benign |
0.02 |
R0383:Klb
|
UTSW |
5 |
65,372,499 (GRCm38) |
splice site |
probably null |
|
R0676:Klb
|
UTSW |
5 |
65,379,055 (GRCm38) |
missense |
probably damaging |
1.00 |
R0735:Klb
|
UTSW |
5 |
65,379,727 (GRCm38) |
missense |
probably benign |
|
R0972:Klb
|
UTSW |
5 |
65,348,746 (GRCm38) |
missense |
possibly damaging |
0.70 |
R1051:Klb
|
UTSW |
5 |
65,379,327 (GRCm38) |
missense |
probably damaging |
1.00 |
R1168:Klb
|
UTSW |
5 |
65,378,974 (GRCm38) |
missense |
probably damaging |
1.00 |
R1372:Klb
|
UTSW |
5 |
65,348,746 (GRCm38) |
missense |
possibly damaging |
0.70 |
R1403:Klb
|
UTSW |
5 |
65,348,746 (GRCm38) |
missense |
possibly damaging |
0.70 |
R1403:Klb
|
UTSW |
5 |
65,348,746 (GRCm38) |
missense |
possibly damaging |
0.70 |
R1446:Klb
|
UTSW |
5 |
65,348,995 (GRCm38) |
missense |
probably damaging |
1.00 |
R1696:Klb
|
UTSW |
5 |
65,348,746 (GRCm38) |
missense |
possibly damaging |
0.70 |
R1743:Klb
|
UTSW |
5 |
65,375,861 (GRCm38) |
missense |
probably damaging |
0.99 |
R1801:Klb
|
UTSW |
5 |
65,349,235 (GRCm38) |
missense |
probably null |
0.90 |
R1804:Klb
|
UTSW |
5 |
65,379,853 (GRCm38) |
missense |
probably damaging |
1.00 |
R1848:Klb
|
UTSW |
5 |
65,348,837 (GRCm38) |
missense |
probably benign |
0.02 |
R1967:Klb
|
UTSW |
5 |
65,372,074 (GRCm38) |
missense |
probably damaging |
0.98 |
R3420:Klb
|
UTSW |
5 |
65,372,142 (GRCm38) |
missense |
probably damaging |
1.00 |
R4397:Klb
|
UTSW |
5 |
65,380,039 (GRCm38) |
missense |
probably damaging |
1.00 |
R4490:Klb
|
UTSW |
5 |
65,375,794 (GRCm38) |
missense |
probably benign |
0.02 |
R4491:Klb
|
UTSW |
5 |
65,375,794 (GRCm38) |
missense |
probably benign |
0.02 |
R4547:Klb
|
UTSW |
5 |
65,379,928 (GRCm38) |
missense |
probably benign |
0.00 |
R4878:Klb
|
UTSW |
5 |
65,348,490 (GRCm38) |
missense |
probably damaging |
0.99 |
R5269:Klb
|
UTSW |
5 |
65,348,797 (GRCm38) |
missense |
probably damaging |
1.00 |
R5418:Klb
|
UTSW |
5 |
65,383,470 (GRCm38) |
missense |
probably benign |
0.00 |
R5453:Klb
|
UTSW |
5 |
65,383,385 (GRCm38) |
missense |
probably benign |
0.08 |
R5541:Klb
|
UTSW |
5 |
65,379,234 (GRCm38) |
missense |
probably benign |
0.27 |
R5672:Klb
|
UTSW |
5 |
65,379,949 (GRCm38) |
missense |
possibly damaging |
0.82 |
R5841:Klb
|
UTSW |
5 |
65,379,324 (GRCm38) |
nonsense |
probably null |
|
R6088:Klb
|
UTSW |
5 |
65,349,013 (GRCm38) |
missense |
probably benign |
0.07 |
R6807:Klb
|
UTSW |
5 |
65,379,534 (GRCm38) |
missense |
probably damaging |
1.00 |
R6955:Klb
|
UTSW |
5 |
65,379,088 (GRCm38) |
nonsense |
probably null |
|
R7068:Klb
|
UTSW |
5 |
65,379,340 (GRCm38) |
missense |
probably damaging |
1.00 |
R7284:Klb
|
UTSW |
5 |
65,383,478 (GRCm38) |
missense |
probably benign |
0.01 |
R7322:Klb
|
UTSW |
5 |
65,383,364 (GRCm38) |
missense |
probably benign |
0.44 |
R7346:Klb
|
UTSW |
5 |
65,348,631 (GRCm38) |
nonsense |
probably null |
|
R7366:Klb
|
UTSW |
5 |
65,372,431 (GRCm38) |
missense |
probably damaging |
1.00 |
R8134:Klb
|
UTSW |
5 |
65,383,615 (GRCm38) |
missense |
probably benign |
0.00 |
R8243:Klb
|
UTSW |
5 |
65,378,995 (GRCm38) |
missense |
possibly damaging |
0.65 |
R8409:Klb
|
UTSW |
5 |
65,379,535 (GRCm38) |
missense |
probably damaging |
0.96 |
R8971:Klb
|
UTSW |
5 |
65,375,683 (GRCm38) |
missense |
probably damaging |
1.00 |
R9193:Klb
|
UTSW |
5 |
65,372,025 (GRCm38) |
missense |
possibly damaging |
0.63 |
R9305:Klb
|
UTSW |
5 |
65,348,645 (GRCm38) |
nonsense |
probably null |
|
R9390:Klb
|
UTSW |
5 |
65,375,701 (GRCm38) |
missense |
possibly damaging |
0.50 |
R9531:Klb
|
UTSW |
5 |
65,383,605 (GRCm38) |
missense |
|
|
R9768:Klb
|
UTSW |
5 |
65,380,030 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1177:Klb
|
UTSW |
5 |
65,348,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |