Incidental Mutation 'R5841:Klb'
| ID |
450430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klb
|
| Ensembl Gene |
ENSMUSG00000029195 |
| Gene Name |
klotho beta |
| Synonyms |
betaKlotho |
| MMRRC Submission |
044061-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R5841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65505657-65541350 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 65536667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 666
(K666*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031096]
[ENSMUST00000205084]
|
| AlphaFold |
Q99N32 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031096
AA Change: K666*
|
| SMART Domains |
Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: K666*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (67/67) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
T |
1: 75,150,994 (GRCm39) |
F565L |
possibly damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,596 (GRCm38) |
V188D |
probably benign |
Het |
| Bbs12 |
T |
G |
3: 37,373,670 (GRCm39) |
N39K |
probably benign |
Het |
| Bend5 |
A |
G |
4: 111,290,667 (GRCm39) |
Y221C |
probably damaging |
Het |
| Brd8 |
A |
G |
18: 34,738,576 (GRCm39) |
S683P |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,715,183 (GRCm39) |
D79G |
probably damaging |
Het |
| Cdyl |
T |
C |
13: 36,056,544 (GRCm39) |
L509P |
probably damaging |
Het |
| Cenpf |
G |
T |
1: 189,389,641 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,027 (GRCm39) |
M1479K |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,951,497 (GRCm39) |
S145P |
probably damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,183,899 (GRCm39) |
H235L |
probably benign |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,670 (GRCm39) |
F181Y |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,946,253 (GRCm39) |
T453A |
probably benign |
Het |
| Dlgap3 |
A |
G |
4: 127,089,193 (GRCm39) |
D263G |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
G |
A |
17: 84,940,990 (GRCm39) |
G69R |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,651,885 (GRCm39) |
V331A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ganc |
C |
T |
2: 120,242,020 (GRCm39) |
T66I |
possibly damaging |
Het |
| Gm11595 |
C |
A |
11: 99,663,143 (GRCm39) |
C179F |
unknown |
Het |
| Gnptg |
A |
G |
17: 25,454,391 (GRCm39) |
S159P |
probably damaging |
Het |
| Gsdmc2 |
C |
T |
15: 63,698,059 (GRCm39) |
V349I |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,259,846 (GRCm39) |
I2606T |
possibly damaging |
Het |
| Ino80d |
A |
G |
1: 63,097,999 (GRCm39) |
S632P |
probably damaging |
Het |
| Kcnn2 |
G |
A |
18: 45,692,463 (GRCm39) |
R13H |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Kpna7 |
T |
C |
5: 144,930,766 (GRCm39) |
I360V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,657 (GRCm39) |
K576E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,310,497 (GRCm39) |
Y2692F |
probably benign |
Het |
| Meis2 |
T |
A |
2: 115,889,145 (GRCm39) |
E202D |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,224,826 (GRCm39) |
T347S |
probably damaging |
Het |
| Mmp12 |
G |
A |
9: 7,347,501 (GRCm39) |
C26Y |
possibly damaging |
Het |
| Mrpl24 |
G |
A |
3: 87,830,292 (GRCm39) |
R145Q |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,396,436 (GRCm39) |
R135W |
probably damaging |
Het |
| Myo1g |
T |
A |
11: 6,457,000 (GRCm39) |
Y942F |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,200,911 (GRCm39) |
K52R |
probably null |
Het |
| Ncf2 |
A |
T |
1: 152,697,269 (GRCm39) |
|
silent |
Het |
| Nherf2 |
A |
T |
17: 24,863,851 (GRCm39) |
M8K |
probably benign |
Het |
| Or51f1e |
T |
C |
7: 102,747,161 (GRCm39) |
F71S |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,948,594 (GRCm39) |
|
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,965,429 (GRCm39) |
V532D |
possibly damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,383,096 (GRCm39) |
L305P |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,898 (GRCm39) |
R324* |
probably null |
Het |
| Polr3a |
A |
T |
14: 24,500,766 (GRCm39) |
C1341S |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,983 (GRCm39) |
T644A |
probably benign |
Het |
| Pramel22 |
A |
G |
4: 143,382,109 (GRCm39) |
S196P |
possibly damaging |
Het |
| Ptbp1 |
A |
G |
10: 79,695,766 (GRCm39) |
D289G |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,007,952 (GRCm39) |
F868L |
probably benign |
Het |
| Rgs8 |
A |
G |
1: 153,568,574 (GRCm39) |
E153G |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,493,180 (GRCm39) |
|
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,192,271 (GRCm39) |
H78R |
probably damaging |
Het |
| Sdr16c6 |
C |
T |
4: 4,062,728 (GRCm39) |
A197T |
possibly damaging |
Het |
| Slc36a3 |
A |
T |
11: 55,016,547 (GRCm39) |
Y349* |
probably null |
Het |
| Slc38a9 |
T |
C |
13: 112,831,856 (GRCm39) |
L202P |
possibly damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,951,509 (GRCm39) |
M216K |
probably damaging |
Het |
| Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
| Srp54b |
A |
G |
12: 55,299,614 (GRCm39) |
N315S |
probably benign |
Het |
| Strc |
A |
G |
2: 121,196,358 (GRCm39) |
F1557L |
probably benign |
Het |
| Susd3 |
C |
A |
13: 49,392,202 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
G |
A |
14: 20,600,351 (GRCm39) |
T1462I |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,787 (GRCm39) |
N150K |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,231,958 (GRCm39) |
H606Y |
probably benign |
Het |
| Zmym6 |
A |
G |
4: 126,994,463 (GRCm39) |
I206V |
possibly 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 |
|
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 |
|
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'- AGTTTGCTCTGGACTGGACC -3'
(R):5'- CCTATACTGCCTATCATAGAGGTGC -3'
Sequencing Primer
(F):5'- TCCCACTGGCAATCTGTCCAAAG -3'
(R):5'- TGCCTATCATAGAGGTGCCAGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation