Incidental Mutation 'R5422:Clu'
| ID |
426664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clu
|
| Ensembl Gene |
ENSMUSG00000022037 |
| Gene Name |
clusterin |
| Synonyms |
D14Ucla3, Sgp2, Sgp-2, Cli, ApoJ, testosterone repressed prostate message-2, SP-40, complement lysis inhibitor, Apolipoprotein J, Sugp-2 |
| MMRRC Submission |
042846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R5422 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
66205932-66218996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66213051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 146
(S146G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022616]
[ENSMUST00000127387]
[ENSMUST00000128539]
[ENSMUST00000138191]
[ENSMUST00000138665]
[ENSMUST00000144619]
[ENSMUST00000153460]
|
| AlphaFold |
Q06890 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022616
AA Change: S146G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022616
Gene: ENSMUSG00000022037
AA Change: S146G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLb
|
22 |
226 |
9.93e-152 |
SMART |
|
CLa
|
227 |
442 |
2.3e-156 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127387
AA Change: S146G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114720
Gene: ENSMUSG00000022037
AA Change: S146G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLb
|
22 |
226 |
9.93e-152 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128539
AA Change: S146G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121485
Gene: ENSMUSG00000022037
AA Change: S146G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLb
|
22 |
203 |
3.48e-124 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138191
AA Change: S146G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117555
Gene: ENSMUSG00000022037
AA Change: S146G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLb
|
22 |
225 |
2.18e-148 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144619
|
| SMART Domains |
Protein: ENSMUSP00000117953
Gene: ENSMUSG00000022037
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
100 |
N/A |
INTRINSIC |
|
CLb
|
110 |
209 |
1.16e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152903
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153460
AA Change: S146G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121633
Gene: ENSMUSG00000022037
AA Change: S146G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLb
|
22 |
226 |
9.93e-152 |
SMART |
|
Blast:CLa
|
227 |
265 |
2e-19 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a secreted chaperone that can, under some stress conditions, also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. The encoded preproprotein undergoes proteolytic processing to generate a disulfide-linked heterodimeric mature protein comprised of alpha and beta subunits. Mice lacking the encoded protein exhibit increased severity of autoimmune myocarditis, faster progression of the acute inflammation to myocardial scarring and decreased brain injury following neonatal hypoxic-ischemic injury. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to progressive renal glomerulopathy and increased severity of myosin-induced autoimmune myocarditis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,425,606 (GRCm39) |
S1219G |
probably benign |
Het |
| Adgrg5 |
T |
A |
8: 95,660,580 (GRCm39) |
I73N |
probably damaging |
Het |
| Agmat |
C |
A |
4: 141,483,144 (GRCm39) |
H193N |
probably damaging |
Het |
| Ambn |
T |
C |
5: 88,612,370 (GRCm39) |
|
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,366,644 (GRCm39) |
C803S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,928,507 (GRCm39) |
R109S |
probably benign |
Het |
| Btnl6 |
C |
T |
17: 34,733,081 (GRCm39) |
G261R |
possibly damaging |
Het |
| Clk3 |
A |
G |
9: 57,672,721 (GRCm39) |
V27A |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,338,528 (GRCm39) |
F43L |
probably benign |
Het |
| Elf3 |
C |
T |
1: 135,182,778 (GRCm39) |
E316K |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,479,349 (GRCm39) |
D218E |
probably damaging |
Het |
| Ereg |
T |
C |
5: 91,222,666 (GRCm39) |
|
probably null |
Het |
| Ewsr1 |
A |
G |
11: 5,030,668 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,941,394 (GRCm39) |
I96V |
possibly damaging |
Het |
| Fgl2 |
T |
G |
5: 21,580,808 (GRCm39) |
N383K |
probably damaging |
Het |
| Fkbp11 |
A |
T |
15: 98,625,989 (GRCm39) |
|
probably null |
Het |
| Fn3k |
C |
A |
11: 121,340,948 (GRCm39) |
P201Q |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,572 (GRCm39) |
I2964V |
probably benign |
Het |
| Gbx1 |
C |
T |
5: 24,709,667 (GRCm39) |
V393I |
possibly damaging |
Het |
| Gch1 |
C |
T |
14: 47,394,906 (GRCm39) |
A187T |
probably damaging |
Het |
| Ghdc |
C |
A |
11: 100,660,020 (GRCm39) |
K242N |
probably benign |
Het |
| Ghrhr |
A |
G |
6: 55,365,188 (GRCm39) |
H394R |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,442,208 (GRCm39) |
S236R |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,229,001 (GRCm39) |
Y66H |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,813,954 (GRCm39) |
|
probably null |
Het |
| Magi3 |
C |
T |
3: 103,958,684 (GRCm39) |
C467Y |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,142,512 (GRCm39) |
V303F |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,030,488 (GRCm39) |
L135P |
probably damaging |
Het |
| Mapkapk5 |
T |
A |
5: 121,669,785 (GRCm39) |
|
probably null |
Het |
| Myh7b |
A |
C |
2: 155,472,954 (GRCm39) |
Q1405P |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,752,777 (GRCm39) |
I328N |
probably damaging |
Het |
| Nprl2 |
C |
A |
9: 107,420,796 (GRCm39) |
R144S |
probably benign |
Het |
| Ogfr |
G |
T |
2: 180,237,067 (GRCm39) |
D551Y |
possibly damaging |
Het |
| Ogfr |
A |
T |
2: 180,237,068 (GRCm39) |
D551V |
probably benign |
Het |
| Or6b13 |
A |
T |
7: 139,782,305 (GRCm39) |
V126E |
probably damaging |
Het |
| Or8c10 |
A |
T |
9: 38,279,270 (GRCm39) |
T143S |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,686,545 (GRCm39) |
K101E |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,920 (GRCm39) |
T627S |
probably damaging |
Het |
| Pdzrn4 |
G |
A |
15: 92,575,502 (GRCm39) |
G303S |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,736,543 (GRCm39) |
Y628F |
probably benign |
Het |
| Ptpn9 |
T |
A |
9: 56,940,441 (GRCm39) |
W194R |
probably damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,573,102 (GRCm39) |
M474K |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,065,095 (GRCm39) |
F370Y |
probably damaging |
Het |
| Rassf5 |
C |
A |
1: 131,108,911 (GRCm39) |
R218L |
possibly damaging |
Het |
| Scart1 |
A |
T |
7: 139,804,068 (GRCm39) |
H422L |
probably benign |
Het |
| Serpine2 |
C |
A |
1: 79,794,592 (GRCm39) |
V114L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,206 (GRCm39) |
Y16C |
probably benign |
Het |
| Sgms1 |
G |
T |
19: 32,137,232 (GRCm39) |
N111K |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tbc1d17 |
A |
T |
7: 44,498,292 (GRCm39) |
M1K |
probably null |
Het |
| Tcf12 |
A |
T |
9: 71,776,320 (GRCm39) |
H403Q |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,512 (GRCm39) |
I678T |
probably damaging |
Het |
| Thsd7b |
T |
C |
1: 129,849,071 (GRCm39) |
S928P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,952,715 (GRCm39) |
F1540I |
probably damaging |
Het |
| Tph2 |
T |
A |
10: 114,915,669 (GRCm39) |
D457V |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,314,676 (GRCm39) |
I2112V |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp335 |
T |
C |
2: 164,749,650 (GRCm39) |
K249R |
probably damaging |
Het |
| Zfp54 |
C |
A |
17: 21,654,788 (GRCm39) |
S427R |
probably benign |
Het |
| Zfp607b |
A |
G |
7: 27,401,813 (GRCm39) |
T90A |
probably benign |
Het |
|
| Other mutations in Clu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Clu
|
APN |
14 |
66,213,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01657:Clu
|
APN |
14 |
66,217,121 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02030:Clu
|
APN |
14 |
66,213,240 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02891:Clu
|
APN |
14 |
66,213,433 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03163:Clu
|
APN |
14 |
66,217,235 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1378:Clu
|
UTSW |
14 |
66,212,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1417:Clu
|
UTSW |
14 |
66,212,420 (GRCm39) |
nonsense |
probably null |
|
|
R1711:Clu
|
UTSW |
14 |
66,218,354 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2134:Clu
|
UTSW |
14 |
66,212,290 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2285:Clu
|
UTSW |
14 |
66,218,408 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2340:Clu
|
UTSW |
14 |
66,218,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2508:Clu
|
UTSW |
14 |
66,212,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Clu
|
UTSW |
14 |
66,217,313 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4981:Clu
|
UTSW |
14 |
66,210,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5062:Clu
|
UTSW |
14 |
66,217,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6389:Clu
|
UTSW |
14 |
66,208,771 (GRCm39) |
intron |
probably benign |
|
|
R7009:Clu
|
UTSW |
14 |
66,209,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Clu
|
UTSW |
14 |
66,217,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Clu
|
UTSW |
14 |
66,218,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Clu
|
UTSW |
14 |
66,217,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Clu
|
UTSW |
14 |
66,208,851 (GRCm39) |
missense |
unknown |
|
|
R9686:Clu
|
UTSW |
14 |
66,212,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Clu
|
UTSW |
14 |
66,209,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Clu
|
UTSW |
14 |
66,214,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Clu
|
UTSW |
14 |
66,213,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGTTTCGCCATGAGAAATG -3'
(R):5'- AAGAAATGAGGCCTCTTGTGTG -3'
Sequencing Primer
(F):5'- GAACTTGGGTCAGTTTCTG -3'
(R):5'- CCTCTTGTGTGGGAAGCC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation