Incidental Mutation 'R4895:Cluh'
ID |
377581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cluh
|
Ensembl Gene |
ENSMUSG00000020741 |
Gene Name |
clustered mitochondria homolog |
Synonyms |
1300001I01Rik |
MMRRC Submission |
042499-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R4895 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74540321-74561673 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74558231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1126
(Y1126C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092915]
[ENSMUST00000117818]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092915
AA Change: Y1177C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090593 Gene: ENSMUSG00000020741 AA Change: Y1177C
Domain | Start | End | E-Value | Type |
Pfam:CLU_N
|
104 |
177 |
3.1e-28 |
PFAM |
Pfam:CLU
|
394 |
614 |
3.4e-89 |
PFAM |
Pfam:eIF3_p135
|
806 |
988 |
1.3e-58 |
PFAM |
Pfam:TPR_10
|
1059 |
1100 |
2.9e-7 |
PFAM |
low complexity region
|
1114 |
1125 |
N/A |
INTRINSIC |
Pfam:TPR_12
|
1140 |
1218 |
1.7e-10 |
PFAM |
low complexity region
|
1316 |
1334 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117818
AA Change: Y1126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113371 Gene: ENSMUSG00000020741 AA Change: Y1126C
Domain | Start | End | E-Value | Type |
Pfam:CLU_N
|
102 |
177 |
9.8e-30 |
PFAM |
Pfam:CLU
|
394 |
615 |
5.3e-92 |
PFAM |
Pfam:eIF3_p135
|
796 |
938 |
2.9e-38 |
PFAM |
Pfam:TPR_10
|
1008 |
1049 |
9.5e-7 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
Pfam:TPR_12
|
1089 |
1167 |
1.1e-9 |
PFAM |
low complexity region
|
1265 |
1283 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128155
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155558
|
Meta Mutation Damage Score |
0.7501 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
98% (84/86) |
MGI Phenotype |
PHENOTYPE: Constitutive homozygous KO affects liver mitochondrial function and leads to neonatal lethality. Conditional homozygous KO in the adult liver affects cellular respiration under energy stress conditions. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519P11Rik |
C |
A |
2: 154,454,990 (GRCm39) |
|
probably benign |
Het |
Abat |
G |
A |
16: 8,433,826 (GRCm39) |
A392T |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,846,572 (GRCm39) |
|
probably null |
Het |
Abcc6 |
A |
T |
7: 45,630,414 (GRCm39) |
L1282Q |
possibly damaging |
Het |
Acss2 |
A |
G |
2: 155,392,401 (GRCm39) |
|
probably benign |
Het |
Adgrf1 |
G |
T |
17: 43,621,511 (GRCm39) |
V583L |
probably benign |
Het |
Aftph |
T |
C |
11: 20,646,801 (GRCm39) |
D825G |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,994,805 (GRCm39) |
V5363A |
probably benign |
Het |
Apba3 |
G |
A |
10: 81,107,117 (GRCm39) |
|
probably null |
Het |
Asb13 |
T |
C |
13: 3,693,589 (GRCm39) |
Y116H |
probably damaging |
Het |
Asb4 |
C |
A |
6: 5,398,266 (GRCm39) |
T77K |
probably damaging |
Het |
Atp8b4 |
A |
T |
2: 126,256,289 (GRCm39) |
H223Q |
probably benign |
Het |
Best1 |
A |
G |
19: 9,970,135 (GRCm39) |
L159P |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,608,396 (GRCm39) |
M731K |
probably damaging |
Het |
Catspere1 |
T |
A |
1: 177,687,427 (GRCm39) |
|
noncoding transcript |
Het |
Cenpv |
A |
T |
11: 62,418,346 (GRCm39) |
Y202* |
probably null |
Het |
Cep57 |
A |
T |
9: 13,727,449 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,383,084 (GRCm39) |
D363V |
possibly damaging |
Het |
Cyp2j5 |
A |
G |
4: 96,551,347 (GRCm39) |
|
probably null |
Het |
Dnajc11 |
T |
C |
4: 152,064,390 (GRCm39) |
F514L |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,611,112 (GRCm39) |
T318I |
probably benign |
Het |
Efcab3 |
T |
A |
11: 105,008,227 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,640,496 (GRCm39) |
D1026G |
probably damaging |
Het |
Eif2b4 |
T |
G |
5: 31,350,298 (GRCm39) |
Q8P |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,486,918 (GRCm39) |
V1043E |
probably benign |
Het |
Gm11562 |
G |
T |
11: 99,511,141 (GRCm39) |
Q20K |
unknown |
Het |
Gm14415 |
A |
T |
2: 176,796,114 (GRCm39) |
|
noncoding transcript |
Het |
Gm5431 |
A |
G |
11: 48,779,855 (GRCm39) |
S634P |
probably damaging |
Het |
Gpld1 |
C |
A |
13: 25,163,711 (GRCm39) |
N501K |
probably damaging |
Het |
Gsn |
C |
T |
2: 35,192,590 (GRCm39) |
R513C |
probably damaging |
Het |
Gulp1 |
T |
C |
1: 44,827,757 (GRCm39) |
F300L |
probably benign |
Het |
H2aj |
T |
C |
6: 136,785,660 (GRCm39) |
V108A |
possibly damaging |
Het |
Haus3 |
T |
C |
5: 34,325,414 (GRCm39) |
R82G |
probably benign |
Het |
Herc2 |
G |
A |
7: 55,872,734 (GRCm39) |
R4424H |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,553,130 (GRCm39) |
Q2520L |
probably benign |
Het |
Hs2st1 |
T |
C |
3: 144,171,014 (GRCm39) |
I53V |
probably benign |
Het |
Inpp5e |
C |
T |
2: 26,287,924 (GRCm39) |
R624Q |
probably damaging |
Het |
Ints8 |
G |
T |
4: 11,230,367 (GRCm39) |
C491* |
probably null |
Het |
Itpkb |
C |
A |
1: 180,241,460 (GRCm39) |
A710D |
probably damaging |
Het |
Kcnk4 |
A |
C |
19: 6,905,784 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,742,368 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
C |
T |
1: 193,014,622 (GRCm39) |
R594* |
probably null |
Het |
Map3k20 |
A |
G |
2: 72,232,700 (GRCm39) |
|
probably benign |
Het |
Maz |
A |
T |
7: 126,624,472 (GRCm39) |
|
probably null |
Het |
Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,332,062 (GRCm39) |
E2252G |
probably damaging |
Het |
Ndufa10 |
A |
G |
1: 92,397,618 (GRCm39) |
Y61H |
probably damaging |
Het |
Npat |
T |
A |
9: 53,481,789 (GRCm39) |
L1166M |
probably damaging |
Het |
Or12e1 |
A |
C |
2: 87,022,192 (GRCm39) |
I54L |
probably benign |
Het |
Or4c108 |
A |
T |
2: 88,804,055 (GRCm39) |
F60Y |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,341 (GRCm39) |
*310K |
probably null |
Het |
Or5b97 |
C |
T |
19: 12,878,251 (GRCm39) |
V298M |
probably damaging |
Het |
Or5h22 |
C |
T |
16: 58,895,020 (GRCm39) |
C141Y |
probably benign |
Het |
Or5p66 |
A |
C |
7: 107,885,802 (GRCm39) |
I177S |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,759 (GRCm39) |
F242L |
probably damaging |
Het |
Phip |
A |
G |
9: 82,841,648 (GRCm39) |
V57A |
probably benign |
Het |
Plekha7 |
A |
T |
7: 115,788,626 (GRCm39) |
|
probably null |
Het |
Pot1a |
A |
C |
6: 25,753,205 (GRCm39) |
F444V |
probably damaging |
Het |
Ppm1a |
C |
T |
12: 72,831,126 (GRCm39) |
P217L |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,388,494 (GRCm39) |
F203S |
probably damaging |
Het |
Prl8a1 |
T |
C |
13: 27,759,513 (GRCm39) |
I175V |
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,787,175 (GRCm39) |
I1059N |
possibly damaging |
Het |
Rhag |
A |
G |
17: 41,122,242 (GRCm39) |
Q59R |
probably benign |
Het |
Sema4c |
A |
C |
1: 36,592,651 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,542,656 (GRCm39) |
D902G |
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,019,220 (GRCm39) |
|
probably null |
Het |
Tbrg1 |
A |
T |
9: 37,566,375 (GRCm39) |
I54N |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,352,993 (GRCm39) |
E811V |
unknown |
Het |
Tenm3 |
T |
A |
8: 48,754,006 (GRCm39) |
D799V |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,801,764 (GRCm39) |
L342P |
probably damaging |
Het |
Tppp |
C |
T |
13: 74,178,996 (GRCm39) |
R146* |
probably null |
Het |
Trpm4 |
A |
T |
7: 44,967,482 (GRCm39) |
M574K |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,195,345 (GRCm39) |
F1288Y |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,256,298 (GRCm39) |
K1124N |
probably damaging |
Het |
Usf3 |
A |
C |
16: 44,041,459 (GRCm39) |
S1980R |
possibly damaging |
Het |
Vav2 |
T |
C |
2: 27,208,973 (GRCm39) |
D100G |
probably damaging |
Het |
Vmn2r3 |
G |
T |
3: 64,167,182 (GRCm39) |
H650N |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,695,218 (GRCm39) |
Y398F |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,187,396 (GRCm39) |
D1142G |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,892 (GRCm39) |
R235* |
probably null |
Het |
|
Other mutations in Cluh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Cluh
|
APN |
11 |
74,554,890 (GRCm39) |
missense |
probably benign |
0.28 |
IGL00858:Cluh
|
APN |
11 |
74,550,431 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01380:Cluh
|
APN |
11 |
74,556,772 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02402:Cluh
|
APN |
11 |
74,547,997 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02620:Cluh
|
APN |
11 |
74,555,893 (GRCm39) |
nonsense |
probably null |
|
IGL02990:Cluh
|
APN |
11 |
74,558,591 (GRCm39) |
splice site |
probably null |
|
IGL03163:Cluh
|
APN |
11 |
74,556,894 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03208:Cluh
|
APN |
11 |
74,560,332 (GRCm39) |
splice site |
probably null |
|
IGL03293:Cluh
|
APN |
11 |
74,556,578 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03408:Cluh
|
APN |
11 |
74,556,779 (GRCm39) |
missense |
probably benign |
0.06 |
spent
|
UTSW |
11 |
74,551,198 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4342:Cluh
|
UTSW |
11 |
74,560,352 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Cluh
|
UTSW |
11 |
74,560,350 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Cluh
|
UTSW |
11 |
74,560,358 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Cluh
|
UTSW |
11 |
74,560,357 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Cluh
|
UTSW |
11 |
74,560,350 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Cluh
|
UTSW |
11 |
74,560,345 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Cluh
|
UTSW |
11 |
74,560,340 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Cluh
|
UTSW |
11 |
74,560,359 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Cluh
|
UTSW |
11 |
74,560,346 (GRCm39) |
small insertion |
probably benign |
|
R0147:Cluh
|
UTSW |
11 |
74,556,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Cluh
|
UTSW |
11 |
74,548,176 (GRCm39) |
splice site |
probably benign |
|
R0506:Cluh
|
UTSW |
11 |
74,555,720 (GRCm39) |
missense |
probably benign |
0.20 |
R0526:Cluh
|
UTSW |
11 |
74,556,812 (GRCm39) |
missense |
probably benign |
0.05 |
R0834:Cluh
|
UTSW |
11 |
74,554,631 (GRCm39) |
missense |
probably benign |
0.02 |
R1873:Cluh
|
UTSW |
11 |
74,552,902 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1991:Cluh
|
UTSW |
11 |
74,550,355 (GRCm39) |
nonsense |
probably null |
|
R1992:Cluh
|
UTSW |
11 |
74,550,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R2095:Cluh
|
UTSW |
11 |
74,552,550 (GRCm39) |
nonsense |
probably null |
|
R2101:Cluh
|
UTSW |
11 |
74,551,328 (GRCm39) |
splice site |
probably benign |
|
R2103:Cluh
|
UTSW |
11 |
74,550,355 (GRCm39) |
nonsense |
probably null |
|
R2220:Cluh
|
UTSW |
11 |
74,557,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R3702:Cluh
|
UTSW |
11 |
74,556,182 (GRCm39) |
missense |
probably benign |
|
R3853:Cluh
|
UTSW |
11 |
74,547,279 (GRCm39) |
missense |
probably benign |
0.00 |
R3900:Cluh
|
UTSW |
11 |
74,557,930 (GRCm39) |
missense |
probably benign |
0.29 |
R4891:Cluh
|
UTSW |
11 |
74,555,885 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5056:Cluh
|
UTSW |
11 |
74,552,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R5089:Cluh
|
UTSW |
11 |
74,551,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R5217:Cluh
|
UTSW |
11 |
74,550,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R5346:Cluh
|
UTSW |
11 |
74,556,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R5382:Cluh
|
UTSW |
11 |
74,555,935 (GRCm39) |
intron |
probably benign |
|
R5516:Cluh
|
UTSW |
11 |
74,551,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Cluh
|
UTSW |
11 |
74,552,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R6146:Cluh
|
UTSW |
11 |
74,558,054 (GRCm39) |
splice site |
probably null |
|
R6326:Cluh
|
UTSW |
11 |
74,557,068 (GRCm39) |
missense |
probably benign |
0.10 |
R6541:Cluh
|
UTSW |
11 |
74,548,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R6674:Cluh
|
UTSW |
11 |
74,557,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R6870:Cluh
|
UTSW |
11 |
74,556,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Cluh
|
UTSW |
11 |
74,552,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R7086:Cluh
|
UTSW |
11 |
74,558,166 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7225:Cluh
|
UTSW |
11 |
74,557,232 (GRCm39) |
splice site |
probably null |
|
R7310:Cluh
|
UTSW |
11 |
74,560,285 (GRCm39) |
missense |
probably benign |
0.10 |
R7317:Cluh
|
UTSW |
11 |
74,556,530 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7674:Cluh
|
UTSW |
11 |
74,558,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R7941:Cluh
|
UTSW |
11 |
74,550,583 (GRCm39) |
missense |
probably benign |
0.00 |
R9061:Cluh
|
UTSW |
11 |
74,551,192 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9326:Cluh
|
UTSW |
11 |
74,554,902 (GRCm39) |
missense |
probably benign |
0.00 |
R9489:Cluh
|
UTSW |
11 |
74,558,772 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9605:Cluh
|
UTSW |
11 |
74,558,772 (GRCm39) |
missense |
possibly damaging |
0.92 |
RF020:Cluh
|
UTSW |
11 |
74,560,364 (GRCm39) |
small insertion |
probably benign |
|
RF032:Cluh
|
UTSW |
11 |
74,560,341 (GRCm39) |
small insertion |
probably benign |
|
X0028:Cluh
|
UTSW |
11 |
74,554,292 (GRCm39) |
missense |
probably benign |
0.26 |
Z1177:Cluh
|
UTSW |
11 |
74,558,580 (GRCm39) |
missense |
possibly damaging |
0.82 |
Z1186:Cluh
|
UTSW |
11 |
74,560,357 (GRCm39) |
small insertion |
probably benign |
|
Z1186:Cluh
|
UTSW |
11 |
74,560,343 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74,560,340 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74,560,342 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74,560,343 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74,560,346 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74,560,347 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74,560,350 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74,560,355 (GRCm39) |
small insertion |
probably benign |
|
Z1188:Cluh
|
UTSW |
11 |
74,560,343 (GRCm39) |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74,560,340 (GRCm39) |
frame shift |
probably null |
|
Z1189:Cluh
|
UTSW |
11 |
74,560,357 (GRCm39) |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74,560,356 (GRCm39) |
nonsense |
probably null |
|
Z1189:Cluh
|
UTSW |
11 |
74,560,355 (GRCm39) |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74,560,349 (GRCm39) |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74,560,345 (GRCm39) |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74,560,343 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Cluh
|
UTSW |
11 |
74,560,356 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Cluh
|
UTSW |
11 |
74,560,344 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Cluh
|
UTSW |
11 |
74,560,343 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Cluh
|
UTSW |
11 |
74,560,358 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74,560,349 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74,560,343 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74,560,340 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74,560,356 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74,560,352 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Cluh
|
UTSW |
11 |
74,560,351 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Cluh
|
UTSW |
11 |
74,560,343 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCCTGAGATGGCATTGTTGG -3'
(R):5'- TCTCCACCTGAGGACTAGATC -3'
Sequencing Primer
(F):5'- CCTGAGATGGCATTGTTGGATGTG -3'
(R):5'- GGACTAGATCCCCTCACGAG -3'
|
Posted On |
2016-03-17 |