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 |
Incidental Mutation