Incidental Mutation 'R0972:Klb'
ID |
82860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klb
|
Ensembl Gene |
ENSMUSG00000029195 |
Gene Name |
klotho beta |
Synonyms |
betaKlotho |
MMRRC Submission |
039101-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R0972 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65505657-65541350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 65506089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Proline
at position 112
(R112P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031096]
[ENSMUST00000205084]
|
AlphaFold |
Q99N32 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031096
AA Change: R112P
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031096 Gene: ENSMUSG00000029195 AA Change: R112P
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 |
possibly damaging
Transcript: ENSMUST00000205084
AA Change: R112P
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000145091 Gene: ENSMUSG00000029195 AA Change: R112P
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_1
|
77 |
360 |
8.6e-94 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
97% (72/74) |
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 |
Adam25 |
G |
A |
8: 41,208,168 (GRCm39) |
R478Q |
probably damaging |
Het |
Adgrf5 |
A |
T |
17: 43,761,874 (GRCm39) |
S1190C |
probably damaging |
Het |
Akr1a1 |
T |
C |
4: 116,497,204 (GRCm39) |
|
probably null |
Het |
Bco2 |
A |
T |
9: 50,447,615 (GRCm39) |
D369E |
probably benign |
Het |
Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
Brsk2 |
C |
G |
7: 141,547,441 (GRCm39) |
|
probably benign |
Het |
Cct8 |
A |
G |
16: 87,283,508 (GRCm39) |
V269A |
possibly damaging |
Het |
Cdh12 |
A |
T |
15: 21,237,850 (GRCm39) |
Q28H |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,354,624 (GRCm39) |
T896A |
probably benign |
Het |
Chrm2 |
T |
A |
6: 36,501,401 (GRCm39) |
N419K |
possibly damaging |
Het |
Clasp2 |
A |
T |
9: 113,676,773 (GRCm39) |
H168L |
possibly damaging |
Het |
Cog3 |
A |
T |
14: 75,954,610 (GRCm39) |
M643K |
probably benign |
Het |
Col6a5 |
A |
G |
9: 105,817,484 (GRCm39) |
S276P |
unknown |
Het |
Colgalt2 |
T |
C |
1: 152,347,495 (GRCm39) |
V143A |
probably damaging |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
Ddx56 |
A |
T |
11: 6,217,718 (GRCm39) |
M1K |
probably null |
Het |
Dnah3 |
C |
T |
7: 119,634,563 (GRCm39) |
|
probably null |
Het |
Dnah6 |
T |
C |
6: 73,136,176 (GRCm39) |
T988A |
possibly damaging |
Het |
Esp15 |
T |
A |
17: 39,953,557 (GRCm39) |
F15I |
possibly damaging |
Het |
Fam237b |
T |
A |
5: 5,625,512 (GRCm39) |
D69E |
probably benign |
Het |
Fbh1 |
C |
T |
2: 11,768,899 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
A |
T |
14: 62,646,127 (GRCm39) |
I572N |
possibly damaging |
Het |
Gucy1b2 |
T |
C |
14: 62,651,818 (GRCm39) |
I393V |
possibly damaging |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Herc1 |
C |
A |
9: 66,279,427 (GRCm39) |
R112S |
probably damaging |
Het |
Itga7 |
G |
A |
10: 128,778,746 (GRCm39) |
R291H |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,925,371 (GRCm39) |
L1077S |
possibly damaging |
Het |
Klrc2 |
T |
C |
6: 129,635,726 (GRCm39) |
Y134C |
probably damaging |
Het |
Map2k2 |
C |
A |
10: 80,955,482 (GRCm39) |
D67E |
probably benign |
Het |
Mest |
G |
A |
6: 30,740,683 (GRCm39) |
W14* |
probably null |
Het |
Mier2 |
A |
G |
10: 79,380,455 (GRCm39) |
|
probably benign |
Het |
Mog |
A |
G |
17: 37,328,424 (GRCm39) |
V169A |
probably benign |
Het |
Mov10l1 |
T |
C |
15: 88,905,482 (GRCm39) |
V879A |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,203 (GRCm39) |
S155P |
probably damaging |
Het |
Mtmr10 |
A |
G |
7: 63,976,457 (GRCm39) |
D418G |
probably damaging |
Het |
Mtpn |
T |
C |
6: 35,498,911 (GRCm39) |
D58G |
probably null |
Het |
Myh8 |
A |
G |
11: 67,188,585 (GRCm39) |
R1056G |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,542,465 (GRCm39) |
|
probably null |
Het |
Or4k38 |
T |
C |
2: 111,165,763 (GRCm39) |
Y220C |
probably benign |
Het |
Or5al7 |
A |
C |
2: 85,992,648 (GRCm39) |
L215R |
possibly damaging |
Het |
Or8b36 |
T |
A |
9: 37,937,856 (GRCm39) |
F251L |
possibly damaging |
Het |
Pcnx1 |
G |
A |
12: 81,960,186 (GRCm39) |
D181N |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,655,592 (GRCm39) |
D495G |
probably benign |
Het |
Plppr3 |
A |
G |
10: 79,700,920 (GRCm39) |
S641P |
probably damaging |
Het |
Pramel11 |
T |
A |
4: 143,623,533 (GRCm39) |
T214S |
probably benign |
Het |
Prelp |
A |
T |
1: 133,842,414 (GRCm39) |
Y244N |
probably damaging |
Het |
Prg2 |
C |
A |
2: 84,812,393 (GRCm39) |
N34K |
probably benign |
Het |
Ptp4a1 |
A |
G |
1: 30,984,080 (GRCm39) |
V46A |
possibly damaging |
Het |
Rpl6 |
A |
G |
5: 121,346,565 (GRCm39) |
D222G |
possibly damaging |
Het |
Rtp1 |
A |
T |
16: 23,250,058 (GRCm39) |
D141V |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,449,412 (GRCm39) |
Y3819* |
probably null |
Het |
Serinc5 |
A |
G |
13: 92,825,128 (GRCm39) |
T186A |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,577,501 (GRCm39) |
S422P |
probably benign |
Het |
Slc2a8 |
A |
T |
2: 32,865,379 (GRCm39) |
V366D |
probably benign |
Het |
Smarca1 |
T |
C |
X: 46,938,864 (GRCm39) |
R715G |
possibly damaging |
Het |
Spdef |
C |
T |
17: 27,933,997 (GRCm39) |
A275T |
probably damaging |
Het |
Tcf21 |
T |
C |
10: 22,695,621 (GRCm39) |
K61R |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,061,753 (GRCm39) |
|
probably benign |
Het |
Thada |
G |
A |
17: 84,736,490 (GRCm39) |
|
probably benign |
Het |
Thap11 |
T |
A |
8: 106,582,810 (GRCm39) |
I273N |
probably damaging |
Het |
Tmem129 |
T |
A |
5: 33,812,112 (GRCm39) |
E262V |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,904,117 (GRCm39) |
Y1086C |
probably damaging |
Het |
Togaram2 |
A |
G |
17: 72,014,309 (GRCm39) |
Y619C |
probably damaging |
Het |
Top1 |
C |
T |
2: 160,562,945 (GRCm39) |
A717V |
probably damaging |
Het |
Trpm7 |
G |
A |
2: 126,646,969 (GRCm39) |
P1507S |
probably benign |
Het |
Ubr2 |
A |
T |
17: 47,245,187 (GRCm39) |
|
probably null |
Het |
Usp30 |
T |
C |
5: 114,249,925 (GRCm39) |
|
probably benign |
Het |
Vmn1r3 |
T |
A |
4: 3,185,125 (GRCm39) |
I61F |
probably damaging |
Het |
Zbtb22 |
C |
T |
17: 34,136,326 (GRCm39) |
T157I |
possibly damaging |
Het |
Zfp677 |
A |
T |
17: 21,618,572 (GRCm39) |
H543L |
probably damaging |
Het |
Zranb3 |
G |
T |
1: 127,884,383 (GRCm39) |
P1001Q |
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 |
|
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 |
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'- TGTTCTGCTGCGAGCTGTTACC -3'
(R):5'- TCCTAAGTACCAGCGAGTCCAGAAG -3'
Sequencing Primer
(F):5'- CGAGCTGTTACCGGCTTC -3'
(R):5'- GTAGTACCGGAGACCTTGC -3'
|
Posted On |
2013-11-08 |