Incidental Mutation 'R5809:Cluh'
ID |
448927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cluh
|
Ensembl Gene |
ENSMUSG00000020741 |
Gene Name |
clustered mitochondria homolog |
Synonyms |
1300001I01Rik |
MMRRC Submission |
043394-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R5809 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74540321-74561673 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74552526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 524
(S524P)
|
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: S524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090593 Gene: ENSMUSG00000020741 AA Change: S524P
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: S524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113371 Gene: ENSMUSG00000020741 AA Change: S524P
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: ENSMUST00000127679
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128155
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155558
|
Meta Mutation Damage Score |
0.8556 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
99% (77/78) |
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 |
A230072I06Rik |
A |
G |
8: 12,329,556 (GRCm39) |
S4G |
unknown |
Het |
AA623943 |
T |
C |
11: 94,703,828 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
T |
A |
11: 9,243,692 (GRCm39) |
S1852T |
probably damaging |
Het |
Ackr2 |
G |
A |
9: 121,738,540 (GRCm39) |
C305Y |
probably damaging |
Het |
Aebp1 |
T |
C |
11: 5,820,257 (GRCm39) |
V411A |
probably benign |
Het |
Akp3 |
G |
A |
1: 87,054,270 (GRCm39) |
R269H |
probably benign |
Het |
Alox15 |
C |
A |
11: 70,241,708 (GRCm39) |
G58W |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,385,856 (GRCm39) |
N369S |
probably damaging |
Het |
Ankrd28 |
T |
A |
14: 31,465,311 (GRCm39) |
I289L |
probably benign |
Het |
Atp13a4 |
T |
A |
16: 29,252,805 (GRCm39) |
T714S |
possibly damaging |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
Blm |
A |
T |
7: 80,114,592 (GRCm39) |
L1159Q |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,723,521 (GRCm39) |
V770I |
probably benign |
Het |
Ccdc148 |
T |
A |
2: 58,713,657 (GRCm39) |
H498L |
probably damaging |
Het |
Cdh26 |
T |
A |
2: 178,101,919 (GRCm39) |
Y179* |
probably null |
Het |
Cela2a |
T |
A |
4: 141,552,864 (GRCm39) |
T38S |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,809,087 (GRCm39) |
N496K |
probably damaging |
Het |
Cep89 |
A |
G |
7: 35,117,151 (GRCm39) |
Y251C |
probably damaging |
Het |
Cpeb4 |
T |
C |
11: 31,822,801 (GRCm39) |
S172P |
probably damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,847,523 (GRCm39) |
S705P |
probably damaging |
Het |
Dock2 |
T |
G |
11: 34,212,445 (GRCm39) |
D1232A |
probably benign |
Het |
Donson |
T |
C |
16: 91,484,738 (GRCm39) |
N9S |
possibly damaging |
Het |
Gdf9 |
T |
C |
11: 53,324,381 (GRCm39) |
L50P |
probably benign |
Het |
Gm10300 |
C |
T |
4: 131,802,458 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
A |
G |
19: 11,482,248 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,924 (GRCm39) |
|
noncoding transcript |
Het |
Hepacam |
T |
A |
9: 37,296,101 (GRCm39) |
S417R |
possibly damaging |
Het |
Hibch |
T |
A |
1: 52,892,859 (GRCm39) |
L23Q |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,525,358 (GRCm39) |
R3389C |
probably damaging |
Het |
Hsp90ab1 |
G |
T |
17: 45,881,575 (GRCm39) |
|
probably benign |
Het |
Hunk |
C |
A |
16: 90,272,791 (GRCm39) |
T365K |
probably damaging |
Het |
Il12a |
A |
T |
3: 68,602,595 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
G |
6: 146,477,847 (GRCm39) |
V34A |
probably benign |
Het |
Intu |
A |
C |
3: 40,634,020 (GRCm39) |
M418L |
probably damaging |
Het |
Khdc4 |
A |
G |
3: 88,616,192 (GRCm39) |
R460G |
probably damaging |
Het |
Klra9 |
A |
G |
6: 130,156,036 (GRCm39) |
S240P |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,802,699 (GRCm39) |
|
probably benign |
Het |
Or11g24 |
T |
C |
14: 50,662,905 (GRCm39) |
*310Q |
probably null |
Het |
Or5k17 |
T |
C |
16: 58,746,860 (GRCm39) |
T25A |
probably benign |
Het |
Pate6 |
C |
T |
9: 35,700,297 (GRCm39) |
C96Y |
probably damaging |
Het |
Pax7 |
A |
G |
4: 139,557,682 (GRCm39) |
S30P |
probably damaging |
Het |
Pdcd11 |
A |
T |
19: 47,082,247 (GRCm39) |
T54S |
probably benign |
Het |
Pex19 |
T |
C |
1: 171,958,306 (GRCm39) |
V95A |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,383,103 (GRCm39) |
I1121V |
probably benign |
Het |
Pklr |
A |
T |
3: 89,049,091 (GRCm39) |
I146F |
probably benign |
Het |
Plcb1 |
T |
C |
2: 135,104,164 (GRCm39) |
Y278H |
possibly damaging |
Het |
Plcl1 |
T |
A |
1: 55,735,160 (GRCm39) |
I167N |
probably damaging |
Het |
Plekhh1 |
A |
T |
12: 79,125,461 (GRCm39) |
I1241F |
probably benign |
Het |
Plxnb2 |
G |
T |
15: 89,051,774 (GRCm39) |
D148E |
possibly damaging |
Het |
Pthlh |
T |
C |
6: 147,158,745 (GRCm39) |
I72V |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,513,067 (GRCm39) |
R880Q |
probably benign |
Het |
Rrp36 |
T |
C |
17: 46,978,932 (GRCm39) |
K209E |
probably damaging |
Het |
Scarb1 |
A |
G |
5: 125,381,286 (GRCm39) |
V86A |
probably damaging |
Het |
Sh2d7 |
A |
C |
9: 54,446,860 (GRCm39) |
S37R |
probably benign |
Het |
Slc13a2 |
A |
T |
11: 78,288,647 (GRCm39) |
V543E |
probably damaging |
Het |
Smarcal1 |
A |
G |
1: 72,630,296 (GRCm39) |
T117A |
probably benign |
Het |
Smok2a |
A |
G |
17: 13,445,865 (GRCm39) |
R481G |
possibly damaging |
Het |
Smr2 |
G |
A |
5: 88,256,699 (GRCm39) |
A126T |
probably benign |
Het |
Sspo |
G |
T |
6: 48,436,979 (GRCm39) |
W1304C |
possibly damaging |
Het |
Svep1 |
A |
G |
4: 58,116,524 (GRCm39) |
S909P |
possibly damaging |
Het |
Tchh |
A |
T |
3: 93,352,880 (GRCm39) |
K773N |
unknown |
Het |
Tmem156 |
T |
C |
5: 65,232,950 (GRCm39) |
N140S |
possibly damaging |
Het |
Tmem213 |
T |
C |
6: 38,092,589 (GRCm39) |
I107T |
possibly damaging |
Het |
Tpd52l2 |
A |
G |
2: 181,153,372 (GRCm39) |
Y161C |
probably damaging |
Het |
Trappc8 |
C |
T |
18: 20,951,139 (GRCm39) |
A1436T |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,795,855 (GRCm39) |
Y933C |
possibly damaging |
Het |
Ufm1 |
A |
T |
3: 53,765,303 (GRCm39) |
|
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,103,931 (GRCm39) |
L725Q |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,345,035 (GRCm39) |
D1138G |
possibly damaging |
Het |
Zkscan16 |
G |
A |
4: 58,946,481 (GRCm39) |
V119M |
probably damaging |
Het |
Zmat5 |
A |
G |
11: 4,672,431 (GRCm39) |
D16G |
probably damaging |
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 |
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'- ACAACATCTTCTTCAGCCTGGG -3'
(R):5'- ATGATGCCCTTACACTCGACC -3'
Sequencing Primer
(F):5'- GCTTTGATGTCCGGGACCAC -3'
(R):5'- TTACACTCGACCGAGGAGCAG -3'
|
Posted On |
2016-12-15 |