Incidental Mutation 'R7322:Klb'
| ID |
568209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klb
|
| Ensembl Gene |
ENSMUSG00000029195 |
| Gene Name |
klotho beta |
| Synonyms |
betaKlotho |
| MMRRC Submission |
045417-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R7322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65505657-65541350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65540707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 933
(E933D)
|
| 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: E933D
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: E933D
| 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 |
probably benign
Transcript: ENSMUST00000150815
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,067,151 (GRCm39) |
V1352D |
probably damaging |
Het |
| Adam33 |
C |
T |
2: 130,895,614 (GRCm39) |
C567Y |
probably damaging |
Het |
| Alppl2 |
C |
A |
1: 87,015,184 (GRCm39) |
G422C |
probably benign |
Het |
| Ang |
T |
A |
14: 51,338,868 (GRCm39) |
I3K |
unknown |
Het |
| Ankrd10 |
A |
T |
8: 11,665,841 (GRCm39) |
V253E |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,004 (GRCm39) |
I806V |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,103,374 (GRCm39) |
L586P |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,570,563 (GRCm39) |
V43A |
possibly damaging |
Het |
| Brinp3 |
C |
T |
1: 146,558,426 (GRCm39) |
R117* |
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,867,319 (GRCm39) |
M172K |
probably damaging |
Het |
| Bsn |
G |
A |
9: 108,003,620 (GRCm39) |
R262* |
probably null |
Het |
| Bst2 |
A |
C |
8: 71,989,851 (GRCm39) |
L74R |
probably damaging |
Het |
| C1qa |
T |
C |
4: 136,623,465 (GRCm39) |
*246W |
probably null |
Het |
| Cadm2 |
G |
A |
16: 66,679,734 (GRCm39) |
T42M |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,299,125 (GRCm39) |
T34A |
probably benign |
Het |
| Ccdc178 |
G |
A |
18: 22,238,606 (GRCm39) |
T337M |
probably benign |
Het |
| Ccl8 |
T |
C |
11: 82,007,408 (GRCm39) |
V81A |
probably damaging |
Het |
| Dgcr6 |
A |
G |
16: 17,888,771 (GRCm39) |
T69A |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,898,333 (GRCm39) |
D3762G |
probably benign |
Het |
| Eif3d |
T |
C |
15: 77,845,876 (GRCm39) |
T382A |
probably benign |
Het |
| Epb41 |
A |
T |
4: 131,717,030 (GRCm39) |
Y375N |
probably damaging |
Het |
| Epb41l1 |
A |
T |
2: 156,345,771 (GRCm39) |
H258L |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,321,115 (GRCm39) |
I81S |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,487 (GRCm39) |
S425P |
probably damaging |
Het |
| Gfra2 |
T |
A |
14: 71,205,831 (GRCm39) |
V398D |
probably benign |
Het |
| Gm3755 |
A |
G |
14: 18,620,904 (GRCm39) |
L130P |
|
Het |
| Grin3b |
A |
G |
10: 79,811,529 (GRCm39) |
Y705C |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,349,093 (GRCm39) |
D4944G |
probably damaging |
Het |
| Hoxd11 |
T |
C |
2: 74,514,355 (GRCm39) |
L295P |
probably damaging |
Het |
| Ighv1-81 |
C |
A |
12: 115,884,287 (GRCm39) |
G16C |
possibly damaging |
Het |
| Kcna5 |
T |
C |
6: 126,510,754 (GRCm39) |
D458G |
possibly damaging |
Het |
| Lrp1 |
A |
T |
10: 127,381,433 (GRCm39) |
M3855K |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,489,833 (GRCm39) |
L533I |
probably damaging |
Het |
| Mrps6 |
C |
A |
16: 91,855,335 (GRCm39) |
Y4* |
probably null |
Het |
| Nabp1 |
A |
T |
1: 51,512,229 (GRCm39) |
V105E |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,435,896 (GRCm39) |
N876Y |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,311,644 (GRCm39) |
S944G |
possibly damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,083,238 (GRCm39) |
E590D |
probably benign |
Het |
| Or10h5 |
A |
G |
17: 33,434,673 (GRCm39) |
I215T |
probably damaging |
Het |
| Or1b1 |
T |
C |
2: 36,995,603 (GRCm39) |
R20G |
probably null |
Het |
| Or52ab2 |
T |
A |
7: 102,970,494 (GRCm39) |
V292E |
|
Het |
| Or5j1 |
A |
T |
2: 86,878,823 (GRCm39) |
Y252* |
probably null |
Het |
| Or8k22 |
C |
T |
2: 86,162,908 (GRCm39) |
S264N |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,437,248 (GRCm39) |
D451G |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,129 (GRCm39) |
S142P |
probably benign |
Het |
| Postn |
T |
C |
3: 54,277,701 (GRCm39) |
L232P |
probably damaging |
Het |
| Prss8 |
T |
C |
7: 127,528,735 (GRCm39) |
T33A |
probably benign |
Het |
| Ptgr3 |
A |
G |
18: 84,113,260 (GRCm39) |
Y312C |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,053,130 (GRCm39) |
M1K |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,645,857 (GRCm39) |
N161S |
possibly damaging |
Het |
| Riox1 |
G |
A |
12: 83,997,442 (GRCm39) |
|
probably benign |
Het |
| Rmdn2 |
A |
T |
17: 79,929,040 (GRCm39) |
K97N |
probably damaging |
Het |
| Sgo1 |
A |
G |
17: 53,984,085 (GRCm39) |
L431P |
probably damaging |
Het |
| Slc9a8 |
T |
A |
2: 167,293,222 (GRCm39) |
V217E |
probably damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,341,055 (GRCm39) |
G21D |
not run |
Het |
| Spata31d1d |
C |
A |
13: 59,874,790 (GRCm39) |
R915L |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,805,104 (GRCm39) |
N152K |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,030,798 (GRCm39) |
I3634N |
probably damaging |
Het |
| Tnfrsf9 |
A |
G |
4: 151,018,794 (GRCm39) |
D155G |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,770,731 (GRCm39) |
D840E |
probably benign |
Het |
| Tyk2 |
G |
A |
9: 21,021,500 (GRCm39) |
S902L |
probably benign |
Het |
| Unc119 |
T |
C |
11: 78,239,449 (GRCm39) |
S235P |
probably damaging |
Het |
| Vav1 |
A |
C |
17: 57,609,266 (GRCm39) |
D394A |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,972,410 (GRCm39) |
I439K |
possibly damaging |
Het |
| Zfp335 |
A |
T |
2: 164,752,741 (GRCm39) |
M1K |
probably null |
Het |
| Zfp715 |
T |
C |
7: 42,960,562 (GRCm39) |
T10A |
possibly damaging |
Het |
| Zmynd11 |
C |
T |
13: 9,740,445 (GRCm39) |
E382K |
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 |
|
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 |
|
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'- CCACGAGAAATGAGCAAATGGT -3'
Sequencing Primer
(F):5'- AGGGCATTGGATCCCATTAC -3'
(R):5'- CAAATGGTGCAGTCTGTGTCTTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation