Incidental Mutation 'R7317:Cluh'
ID |
563481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cluh
|
Ensembl Gene |
ENSMUSG00000020741 |
Gene Name |
clustered mitochondria homolog |
Synonyms |
1300001I01Rik |
MMRRC Submission |
045369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R7317 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
74540321-74561673 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74556530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 956
(D956G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090593
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092915]
[ENSMUST00000117818]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092915
AA Change: D956G
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000090593 Gene: ENSMUSG00000020741 AA Change: D956G
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 |
possibly damaging
Transcript: ENSMUST00000117818
AA Change: D905G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113371 Gene: ENSMUSG00000020741 AA Change: D905G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
G |
A |
5: 8,140,202 (GRCm39) |
P832L |
probably benign |
Het |
Adamts17 |
C |
T |
7: 66,490,304 (GRCm39) |
R129* |
probably null |
Het |
Alg5 |
G |
T |
3: 54,656,752 (GRCm39) |
R321L |
probably benign |
Het |
Amotl1 |
T |
A |
9: 14,486,515 (GRCm39) |
T460S |
probably benign |
Het |
Ankrd50 |
T |
C |
3: 38,537,332 (GRCm39) |
E7G |
possibly damaging |
Het |
Ap3b2 |
T |
C |
7: 81,110,776 (GRCm39) |
T1000A |
unknown |
Het |
Arap2 |
G |
A |
5: 62,807,067 (GRCm39) |
T1200M |
probably damaging |
Het |
Asb2 |
A |
T |
12: 103,299,616 (GRCm39) |
I272N |
probably damaging |
Het |
Bicd2 |
T |
C |
13: 49,531,784 (GRCm39) |
L342P |
probably damaging |
Het |
C1qtnf6 |
T |
A |
15: 78,409,206 (GRCm39) |
I214F |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,364,534 (GRCm39) |
H587Q |
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,450,502 (GRCm39) |
I1010F |
possibly damaging |
Het |
Chd1 |
A |
T |
17: 15,962,536 (GRCm39) |
K764N |
possibly damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,770,730 (GRCm39) |
D243G |
probably benign |
Het |
Ercc4 |
T |
C |
16: 12,939,977 (GRCm39) |
V169A |
probably benign |
Het |
Erich6 |
T |
C |
3: 58,544,305 (GRCm39) |
E94G |
probably benign |
Het |
Fubp3 |
A |
G |
2: 31,494,624 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
C |
T |
17: 37,380,305 (GRCm39) |
T736I |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,963,072 (GRCm39) |
V200A |
probably benign |
Het |
Gm14496 |
T |
A |
2: 181,637,613 (GRCm39) |
M229K |
possibly damaging |
Het |
Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,040,521 (GRCm39) |
T596A |
probably benign |
Het |
H1f4 |
A |
G |
13: 23,806,350 (GRCm39) |
I44T |
probably damaging |
Het |
Htr5b |
T |
A |
1: 121,438,157 (GRCm39) |
Y358F |
probably damaging |
Het |
Il18r1 |
A |
T |
1: 40,513,992 (GRCm39) |
Y66F |
possibly damaging |
Het |
Il18rap |
A |
G |
1: 40,564,536 (GRCm39) |
T189A |
probably damaging |
Het |
Irag2 |
G |
A |
6: 145,104,424 (GRCm39) |
G164R |
possibly damaging |
Het |
Itgav |
G |
T |
2: 83,625,327 (GRCm39) |
A771S |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,705,518 (GRCm39) |
V324A |
possibly damaging |
Het |
Krtap15-1 |
T |
C |
16: 88,626,193 (GRCm39) |
C87R |
probably benign |
Het |
Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,169,755 (GRCm39) |
D1642G |
probably benign |
Het |
Med15 |
G |
T |
16: 17,489,507 (GRCm39) |
Q356K |
unknown |
Het |
Mmp3 |
A |
G |
9: 7,446,937 (GRCm39) |
Y39C |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,849,851 (GRCm39) |
S1149P |
probably damaging |
Het |
Msh3 |
A |
G |
13: 92,422,512 (GRCm39) |
I548T |
probably damaging |
Het |
Noc2l |
T |
A |
4: 156,323,673 (GRCm39) |
V179E |
possibly damaging |
Het |
Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
Or5k3 |
T |
G |
16: 58,969,684 (GRCm39) |
M157R |
possibly damaging |
Het |
Or5p64 |
G |
T |
7: 107,854,425 (GRCm39) |
Q307K |
probably benign |
Het |
Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
Pcdhb10 |
A |
T |
18: 37,546,079 (GRCm39) |
Q385L |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,592,329 (GRCm39) |
K105R |
probably damaging |
Het |
Pex1 |
A |
T |
5: 3,668,875 (GRCm39) |
D582V |
probably damaging |
Het |
Pheta1 |
A |
T |
5: 121,991,336 (GRCm39) |
T233S |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,223,496 (GRCm39) |
|
probably null |
Het |
Pigw |
T |
C |
11: 84,768,066 (GRCm39) |
N421S |
probably benign |
Het |
Plek |
T |
C |
11: 16,944,739 (GRCm39) |
K97R |
probably benign |
Het |
R3hcc1l |
C |
T |
19: 42,571,979 (GRCm39) |
R753* |
probably null |
Het |
R3hdml |
G |
A |
2: 163,344,367 (GRCm39) |
W252* |
probably null |
Het |
Septin12 |
T |
C |
16: 4,809,599 (GRCm39) |
K238E |
probably damaging |
Het |
Sgce |
G |
A |
6: 4,691,615 (GRCm39) |
T320I |
probably benign |
Het |
Sidt2 |
A |
T |
9: 45,854,988 (GRCm39) |
C562* |
probably null |
Het |
Skint8 |
T |
C |
4: 111,796,717 (GRCm39) |
C274R |
possibly damaging |
Het |
Slc13a5 |
A |
T |
11: 72,135,953 (GRCm39) |
M529K |
probably damaging |
Het |
Smg8 |
T |
G |
11: 86,976,391 (GRCm39) |
S397R |
possibly damaging |
Het |
Spock3 |
G |
T |
8: 63,566,590 (GRCm39) |
R68L |
possibly damaging |
Het |
Stau2 |
T |
A |
1: 16,530,553 (GRCm39) |
H122L |
unknown |
Het |
Tent5a |
G |
C |
9: 85,206,670 (GRCm39) |
A376G |
possibly damaging |
Het |
Tert |
G |
A |
13: 73,790,495 (GRCm39) |
R858H |
probably damaging |
Het |
Tgm3 |
G |
A |
2: 129,890,211 (GRCm39) |
R658Q |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,672,918 (GRCm39) |
I455T |
probably benign |
Het |
Tmtc4 |
G |
A |
14: 123,215,593 (GRCm39) |
P18S |
probably benign |
Het |
Tnc |
A |
G |
4: 63,890,959 (GRCm39) |
I1641T |
probably damaging |
Het |
Trav14-3 |
A |
T |
14: 54,000,951 (GRCm39) |
N54I |
probably damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,495,703 (GRCm39) |
M524K |
probably benign |
Het |
Unc93a |
A |
G |
17: 13,335,171 (GRCm39) |
F292L |
probably benign |
Het |
Uso1 |
A |
G |
5: 92,321,851 (GRCm39) |
N248S |
possibly damaging |
Het |
Usp5 |
A |
G |
6: 124,803,281 (GRCm39) |
L73P |
probably damaging |
Het |
Utp20 |
T |
A |
10: 88,598,797 (GRCm39) |
I60F |
possibly damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
probably benign |
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 |
R4895:Cluh
|
UTSW |
11 |
74,558,231 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ACAGGCTTAGTTATGTGGGACC -3'
(R):5'- TTCCTTCAGCAGAATCTGGGG -3'
Sequencing Primer
(F):5'- ATGTGGGACCAGCGTGG -3'
(R):5'- ATCCAAAGTCTCAGCCGTGG -3'
|
Posted On |
2019-06-26 |