Incidental Mutation 'R1403:Klb'
| ID |
188601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klb
|
| Ensembl Gene |
ENSMUSG00000029195 |
| Gene Name |
klotho beta |
| Synonyms |
betaKlotho |
| MMRRC Submission |
039465-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R1403 (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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (51/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
| AC238840.3 |
T |
G |
7: 38,567,345 (GRCm39) |
I28L |
probably benign |
Het |
| Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
| Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
| Akt3 |
C |
T |
1: 176,958,676 (GRCm39) |
|
probably benign |
Het |
| Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
| Cdc42se2 |
A |
G |
11: 54,611,192 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
| Ell |
T |
A |
8: 71,044,138 (GRCm39) |
|
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
| Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
| Gm9797 |
C |
A |
10: 11,485,294 (GRCm39) |
|
noncoding transcript |
Het |
| Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
| Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
| Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
| Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
| Kdm7a |
C |
A |
6: 39,128,187 (GRCm39) |
|
probably benign |
Het |
| Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
| Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
| Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
| Mterf3 |
A |
G |
13: 67,077,944 (GRCm39) |
|
probably benign |
Het |
| Neurl1a |
C |
A |
19: 47,242,150 (GRCm39) |
N414K |
probably damaging |
Het |
| Nfkbiz |
A |
G |
16: 55,636,833 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
| Nsmce1 |
A |
G |
7: 125,067,027 (GRCm39) |
|
probably benign |
Het |
| Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
| Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
| Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
| Rnf126 |
C |
T |
10: 79,596,702 (GRCm39) |
A239T |
probably benign |
Het |
| Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
| Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Syt15 |
C |
A |
14: 33,943,159 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,268 (GRCm39) |
|
probably benign |
Het |
| Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
| Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
| Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
| Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
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 |
|
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 |
2014-05-09 |
Incidental Mutation