Incidental Mutation 'R6955:Klb'
| ID |
541408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klb
|
| Ensembl Gene |
ENSMUSG00000029195 |
| Gene Name |
klotho beta |
| Synonyms |
betaKlotho |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R6955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65505657-65541350 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 65536431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 587
(L587*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031096]
[ENSMUST00000205084]
|
| AlphaFold |
Q99N32 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031096
AA Change: L587*
|
| SMART Domains |
Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195
AA Change: L587*
| 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: 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: 99.4%
- 20x: 97.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,244,307 (GRCm39) |
F2057I |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,219 (GRCm39) |
T108A |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,727,004 (GRCm39) |
W70R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,607,030 (GRCm39) |
T963A |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,453 (GRCm39) |
M1T |
probably null |
Het |
| Chd2 |
A |
G |
7: 73,125,171 (GRCm39) |
V62A |
probably damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,858,864 (GRCm39) |
L87Q |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,414,668 (GRCm39) |
M500V |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,075,253 (GRCm39) |
L498P |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,059,639 (GRCm39) |
C682Y |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,292,894 (GRCm39) |
S595T |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Inf2 |
T |
C |
12: 112,577,165 (GRCm39) |
V1003A |
unknown |
Het |
| Itpr3 |
A |
G |
17: 27,340,441 (GRCm39) |
E2651G |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,040,506 (GRCm39) |
W735R |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,211,070 (GRCm39) |
N798S |
probably benign |
Het |
| Krt82 |
T |
A |
15: 101,451,284 (GRCm39) |
D375V |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,384 (GRCm39) |
V132D |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,084,417 (GRCm39) |
I99V |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Mcam |
T |
A |
9: 44,050,566 (GRCm39) |
I286N |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,901,598 (GRCm39) |
|
probably null |
Het |
| Nup210 |
T |
C |
6: 91,064,909 (GRCm39) |
E197G |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,036,301 (GRCm39) |
Y702N |
probably damaging |
Het |
| Or4p4 |
T |
A |
2: 88,483,348 (GRCm39) |
I284N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,105,305 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
A |
G |
15: 12,401,550 (GRCm39) |
S767P |
probably damaging |
Het |
| Plcd1 |
A |
T |
9: 118,900,924 (GRCm39) |
N765K |
probably benign |
Het |
| Poglut2 |
A |
T |
1: 44,156,257 (GRCm39) |
L110Q |
probably damaging |
Het |
| Rnf208 |
T |
C |
2: 25,133,414 (GRCm39) |
V36A |
probably benign |
Het |
| Rpl5 |
G |
A |
5: 108,049,912 (GRCm39) |
R33Q |
probably benign |
Het |
| Selp |
A |
T |
1: 163,972,478 (GRCm39) |
I706F |
possibly damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,487,991 (GRCm39) |
|
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,294,344 (GRCm39) |
I328V |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,931,642 (GRCm39) |
E604K |
possibly damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,737,782 (GRCm39) |
Y733C |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 85,911,353 (GRCm39) |
V237A |
possibly damaging |
Het |
| Uimc1 |
T |
A |
13: 55,188,359 (GRCm39) |
R567W |
possibly damaging |
Het |
| Wbp4 |
A |
T |
14: 79,709,800 (GRCm39) |
I145N |
probably benign |
Het |
| Xbp1 |
A |
G |
11: 5,472,018 (GRCm39) |
E32G |
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 |
|
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 |
|
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'- ACTTGATTTACCTGGGTGCC -3'
(R):5'- GCTGTGTTCATGTTTAGCCAC -3'
Sequencing Primer
(F):5'- GGTGCCTTTGTCTCCCACAG -3'
(R):5'- CACTGCTCAGAAGTGGCAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation