Incidental Mutation 'R5453:Klb'
| ID |
432620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klb
|
| Ensembl Gene |
ENSMUSG00000029195 |
| Gene Name |
klotho beta |
| Synonyms |
betaKlotho |
| MMRRC Submission |
043017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R5453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65505657-65541350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65540728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 940
(F940L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031096]
[ENSMUST00000057885]
[ENSMUST00000118543]
[ENSMUST00000127874]
[ENSMUST00000205084]
|
| AlphaFold |
Q99N32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031096
AA Change: F940L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: F940L
| 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: ENSMUST00000057885
|
| SMART Domains |
Protein: ENSMUSP00000109399
Gene: ENSMUSG00000047215
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L6
|
12 |
87 |
8.1e-18 |
PFAM |
|
Pfam:Ribosomal_L6
|
99 |
178 |
7.4e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118543
|
| SMART Domains |
Protein: ENSMUSP00000113391
Gene: ENSMUSG00000047215
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L6
|
12 |
87 |
1.1e-19 |
PFAM |
|
Pfam:Ribosomal_L6
|
99 |
165 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127874
|
| SMART Domains |
Protein: ENSMUSP00000115577
Gene: ENSMUSG00000047215
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L6
|
12 |
80 |
3.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151917
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196667
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,223,969 (GRCm39) |
E1253G |
possibly damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,256,647 (GRCm39) |
F640S |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,357,703 (GRCm39) |
|
probably null |
Het |
| Babam2 |
A |
G |
5: 32,164,590 (GRCm39) |
E288G |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,289,500 (GRCm39) |
A406V |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,925,706 (GRCm39) |
D358V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,131 (GRCm39) |
I45V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,806,147 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,599,099 (GRCm39) |
D1818G |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,250,013 (GRCm39) |
K758R |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,908,160 (GRCm39) |
V2614A |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,972 (GRCm39) |
I190T |
possibly damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,235,480 (GRCm39) |
S136P |
probably damaging |
Het |
| Hras |
A |
C |
7: 140,772,768 (GRCm39) |
V29G |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,192,877 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
G |
16: 16,681,558 (GRCm39) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,205,694 (GRCm39) |
T1365I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,923,247 (GRCm39) |
W187R |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,172,249 (GRCm39) |
R725K |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Mrps35 |
A |
G |
6: 146,972,115 (GRCm39) |
S253G |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,438,837 (GRCm39) |
E2015K |
probably damaging |
Het |
| Nyap2 |
A |
C |
1: 81,169,857 (GRCm39) |
I205L |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,953 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or6k14 |
A |
G |
1: 173,927,033 (GRCm39) |
K3R |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,211,555 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,184,525 (GRCm39) |
V26A |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,151,989 (GRCm39) |
I190N |
probably damaging |
Het |
| Spmip4 |
A |
G |
6: 50,572,776 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,133,905 (GRCm39) |
N1150K |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,689 (GRCm39) |
G427W |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,475,722 (GRCm39) |
E138G |
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 |
|
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'- AATCTTCAATGAGAATCATGACTTCA -3'
(R):5'- AACCGAAGAAGATGAGTGGTTTCT -3'
Sequencing Primer
(F):5'- AGGGCATTGGATCCCATTAC -3'
(R):5'- GGTTTCTTCTCCACGAGAAATGAGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation