Incidental Mutation 'R1446:Klb'
ID |
158858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klb
|
Ensembl Gene |
ENSMUSG00000029195 |
Gene Name |
klotho beta |
Synonyms |
betaKlotho |
MMRRC Submission |
039501-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R1446 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
65505657-65541350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65506338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 195
(H195L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031096]
[ENSMUST00000205084]
|
AlphaFold |
Q99N32 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031096
AA Change: H195L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031096 Gene: ENSMUSG00000029195 AA Change: H195L
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 |
noncoding transcript
Transcript: ENSMUST00000203333
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205084
AA Change: H195L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145091 Gene: ENSMUSG00000029195 AA Change: H195L
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_1
|
77 |
360 |
8.6e-94 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
Validation Efficiency |
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
T |
5: 77,034,136 (GRCm39) |
A472T |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,007,480 (GRCm39) |
|
probably null |
Het |
Ahcyl2 |
T |
C |
6: 29,891,239 (GRCm39) |
S448P |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,346,935 (GRCm39) |
Y745C |
probably benign |
Het |
Anxa1 |
A |
T |
19: 20,351,103 (GRCm39) |
L339Q |
probably damaging |
Het |
Apoa4 |
A |
G |
9: 46,153,591 (GRCm39) |
D64G |
probably benign |
Het |
Arpc1a |
A |
G |
5: 145,037,896 (GRCm39) |
|
probably null |
Het |
Bank1 |
C |
T |
3: 135,769,904 (GRCm39) |
G727R |
probably damaging |
Het |
Best2 |
T |
C |
8: 85,734,593 (GRCm39) |
Q375R |
probably benign |
Het |
Cacna1b |
T |
A |
2: 24,596,189 (GRCm39) |
M501L |
probably benign |
Het |
Col27a1 |
T |
A |
4: 63,143,040 (GRCm39) |
Y243N |
probably damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,922,560 (GRCm39) |
Q80L |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
Dnajc19 |
T |
C |
3: 34,112,128 (GRCm39) |
H139R |
probably benign |
Het |
Dppa5a |
T |
A |
9: 78,275,071 (GRCm39) |
N77I |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,614,764 (GRCm39) |
S125P |
probably damaging |
Het |
Eid2 |
T |
C |
7: 27,968,014 (GRCm39) |
I212T |
possibly damaging |
Het |
Fam234b |
T |
A |
6: 135,186,328 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
C |
3: 53,562,017 (GRCm39) |
E830G |
probably benign |
Het |
Fyb1 |
A |
T |
15: 6,681,947 (GRCm39) |
I765L |
probably benign |
Het |
Fyn |
T |
G |
10: 39,398,775 (GRCm39) |
S124A |
probably benign |
Het |
Gal3st3 |
T |
A |
19: 5,356,939 (GRCm39) |
F105I |
probably damaging |
Het |
Gpr146 |
A |
G |
5: 139,379,177 (GRCm39) |
I326M |
probably benign |
Het |
Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
Gsn |
A |
G |
2: 35,196,598 (GRCm39) |
K669R |
probably benign |
Het |
H2-T10 |
A |
T |
17: 36,430,266 (GRCm39) |
I225N |
possibly damaging |
Het |
Il12rb2 |
T |
C |
6: 67,286,127 (GRCm39) |
H106R |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,215,638 (GRCm39) |
E41G |
probably damaging |
Het |
Kcnma1 |
G |
T |
14: 23,361,792 (GRCm39) |
T1006K |
probably damaging |
Het |
Kif18b |
G |
A |
11: 102,805,525 (GRCm39) |
T244I |
probably damaging |
Het |
Lrriq4 |
T |
C |
3: 30,704,727 (GRCm39) |
F252L |
probably benign |
Het |
Lum |
C |
T |
10: 97,404,252 (GRCm39) |
T49I |
possibly damaging |
Het |
Map3k4 |
T |
A |
17: 12,475,681 (GRCm39) |
L84* |
probably null |
Het |
Mindy2 |
A |
G |
9: 70,514,738 (GRCm39) |
|
probably null |
Het |
Mpped2 |
G |
T |
2: 106,614,077 (GRCm39) |
R137L |
possibly damaging |
Het |
Myo18b |
G |
A |
5: 112,905,425 (GRCm39) |
R2058W |
probably damaging |
Het |
Nol8 |
T |
A |
13: 49,808,703 (GRCm39) |
L65Q |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or4c108 |
A |
G |
2: 88,804,109 (GRCm39) |
I42T |
probably benign |
Het |
Or4x6 |
A |
T |
2: 89,949,202 (GRCm39) |
L247M |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,380 (GRCm39) |
A96V |
possibly damaging |
Het |
Or5g9 |
A |
G |
2: 85,551,917 (GRCm39) |
H56R |
probably damaging |
Het |
Or8b3 |
T |
G |
9: 38,314,601 (GRCm39) |
C144G |
possibly damaging |
Het |
Or9a4 |
C |
T |
6: 40,548,833 (GRCm39) |
S171L |
probably benign |
Het |
Parp12 |
G |
T |
6: 39,079,495 (GRCm39) |
D338E |
probably benign |
Het |
Pde6d |
T |
C |
1: 86,474,414 (GRCm39) |
E77G |
probably damaging |
Het |
Phkg1 |
A |
C |
5: 129,902,055 (GRCm39) |
|
probably null |
Het |
Pigw |
A |
C |
11: 84,769,186 (GRCm39) |
S48A |
probably benign |
Het |
Pkm |
T |
A |
9: 59,576,193 (GRCm39) |
|
probably null |
Het |
Ppp1r3f |
G |
A |
X: 7,426,602 (GRCm39) |
T553M |
probably damaging |
Het |
Retreg2 |
T |
A |
1: 75,120,103 (GRCm39) |
F44L |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,753,035 (GRCm39) |
M1762K |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,313,579 (GRCm39) |
V1927A |
probably benign |
Het |
Sec23a |
G |
T |
12: 59,025,345 (GRCm39) |
A492E |
probably damaging |
Het |
Skint4 |
T |
A |
4: 111,975,311 (GRCm39) |
H82Q |
probably benign |
Het |
Srbd1 |
T |
C |
17: 86,446,580 (GRCm39) |
K60E |
probably benign |
Het |
Stk24 |
A |
G |
14: 121,545,456 (GRCm39) |
Y101H |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,726,396 (GRCm39) |
N239K |
probably damaging |
Het |
Tgs1 |
C |
T |
4: 3,604,848 (GRCm39) |
P757S |
probably damaging |
Het |
Tmc2 |
A |
T |
2: 130,090,650 (GRCm39) |
E665D |
probably damaging |
Het |
Tmprss15 |
C |
A |
16: 78,875,846 (GRCm39) |
D163Y |
probably benign |
Het |
Unc13a |
C |
A |
8: 72,101,625 (GRCm39) |
V1009L |
possibly damaging |
Het |
Unc45b |
G |
T |
11: 82,819,496 (GRCm39) |
G490C |
probably damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,645,264 (GRCm39) |
M450V |
possibly damaging |
Het |
Wars2 |
T |
C |
3: 99,094,843 (GRCm39) |
I46T |
probably benign |
Het |
Wdfy3 |
G |
T |
5: 101,999,176 (GRCm39) |
T3098K |
possibly damaging |
Het |
Zan |
A |
T |
5: 137,387,622 (GRCm39) |
I4863N |
unknown |
Het |
Zfp616 |
A |
G |
11: 73,974,064 (GRCm39) |
|
probably null |
Het |
Zfp770 |
A |
T |
2: 114,027,514 (GRCm39) |
I185N |
probably damaging |
Het |
Zfp808 |
T |
G |
13: 62,320,821 (GRCm39) |
H683Q |
probably damaging |
Het |
Zmym4 |
A |
T |
4: 126,776,275 (GRCm39) |
W1221R |
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 |
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'- GTACGTGAGTCCGGTAAACCCAAG -3'
(R):5'- GGTTGTGTCCCACAGTGTAGACAG -3'
Sequencing Primer
(F):5'- CTGGAAAAAGACTTGTTGGCTC -3'
(R):5'- ATGCATACCTGTGCCAAACC -3'
|
Posted On |
2014-03-14 |