Incidental Mutation 'R2220:Cluh'
| ID |
241440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cluh
|
| Ensembl Gene |
ENSMUSG00000020741 |
| Gene Name |
clustered mitochondria homolog |
| Synonyms |
1300001I01Rik |
| MMRRC Submission |
040222-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R2220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74540321-74561673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74557947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1062
(F1062I)
|
| 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: F1113I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
AA Change: F1113I
| 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: F1062I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
AA Change: F1062I
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,344,572 (GRCm39) |
I116T |
probably damaging |
Het |
| Aatk |
G |
T |
11: 119,903,003 (GRCm39) |
F407L |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,917,681 (GRCm39) |
L1586Q |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,388,289 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
A |
G |
14: 49,318,552 (GRCm39) |
D420G |
probably damaging |
Het |
| Bcl6 |
A |
T |
16: 23,791,382 (GRCm39) |
L324* |
probably null |
Het |
| Bicc1 |
A |
G |
10: 70,785,955 (GRCm39) |
S396P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,929,679 (GRCm39) |
|
probably null |
Het |
| Ccdc83 |
G |
A |
7: 89,908,722 (GRCm39) |
S4L |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,538,741 (GRCm39) |
M473L |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,881,178 (GRCm39) |
H363R |
probably damaging |
Het |
| Cfap61 |
G |
A |
2: 145,878,736 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
T |
C |
1: 74,943,184 (GRCm39) |
I1614V |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,508,369 (GRCm39) |
T1294S |
possibly damaging |
Het |
| Cops8 |
A |
C |
1: 90,534,341 (GRCm39) |
N94T |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,641 (GRCm39) |
D2364G |
possibly damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,285,871 (GRCm39) |
D55G |
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,275,676 (GRCm39) |
I39F |
probably benign |
Het |
| Cyp2j8 |
T |
C |
4: 96,332,862 (GRCm39) |
S495G |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,916,703 (GRCm39) |
L575P |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,560,333 (GRCm39) |
V2113I |
probably benign |
Het |
| Dusp3 |
T |
C |
11: 101,865,631 (GRCm39) |
N95D |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fer1l4 |
T |
G |
2: 155,873,684 (GRCm39) |
Y1207S |
probably damaging |
Het |
| Flg2 |
T |
G |
3: 93,109,492 (GRCm39) |
S507A |
unknown |
Het |
| Gdf6 |
A |
G |
4: 9,844,770 (GRCm39) |
H98R |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,727,439 (GRCm39) |
N63S |
possibly damaging |
Het |
| Ggt7 |
A |
G |
2: 155,337,639 (GRCm39) |
S504P |
probably damaging |
Het |
| Gtf2h5 |
G |
A |
17: 6,134,853 (GRCm39) |
E48K |
probably benign |
Het |
| Hivep3 |
T |
G |
4: 119,591,235 (GRCm39) |
V81G |
possibly damaging |
Het |
| Igsf21 |
A |
G |
4: 139,755,425 (GRCm39) |
M410T |
probably damaging |
Het |
| Insrr |
T |
C |
3: 87,716,725 (GRCm39) |
L651P |
probably damaging |
Het |
| Iqcb1 |
A |
T |
16: 36,663,824 (GRCm39) |
|
probably null |
Het |
| Klhdc7a |
G |
A |
4: 139,692,764 (GRCm39) |
R728C |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,247,845 (GRCm39) |
L334P |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,233,607 (GRCm39) |
E994G |
probably damaging |
Het |
| Mertk |
T |
A |
2: 128,643,392 (GRCm39) |
N930K |
probably benign |
Het |
| Mettl21a |
A |
T |
1: 64,655,442 (GRCm39) |
V46E |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,643,989 (GRCm39) |
C614S |
probably damaging |
Het |
| Or13a19 |
T |
C |
7: 139,903,484 (GRCm39) |
S291P |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,348,895 (GRCm39) |
Y258* |
probably null |
Het |
| Or5k1 |
G |
T |
16: 58,617,987 (GRCm39) |
A74D |
possibly damaging |
Het |
| Pard3b |
C |
T |
1: 62,518,842 (GRCm39) |
R976* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,020 (GRCm39) |
T327A |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,900,488 (GRCm39) |
N87K |
probably benign |
Het |
| Ppp1r37 |
C |
A |
7: 19,266,371 (GRCm39) |
R465L |
probably null |
Het |
| Ppp3ca |
C |
A |
3: 136,503,685 (GRCm39) |
T86K |
probably damaging |
Het |
| Ralgapa2 |
G |
A |
2: 146,263,599 (GRCm39) |
T706I |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,327,254 (GRCm39) |
L1747P |
possibly damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,419,824 (GRCm39) |
F166I |
probably damaging |
Het |
| Slc25a18 |
G |
A |
6: 120,770,518 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
G |
9: 36,660,847 (GRCm39) |
|
probably null |
Het |
| Supt16 |
G |
A |
14: 52,409,601 (GRCm39) |
R770* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,707,713 (GRCm39) |
I551V |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,631,872 (GRCm39) |
N876K |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,303,326 (GRCm39) |
D102G |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,152,039 (GRCm39) |
I294N |
possibly damaging |
Het |
| Tmem174 |
T |
C |
13: 98,773,767 (GRCm39) |
Y21C |
probably damaging |
Het |
| Tomm40l |
A |
T |
1: 171,049,550 (GRCm39) |
L13* |
probably null |
Het |
| Trim30c |
A |
G |
7: 104,032,474 (GRCm39) |
V284A |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,312,749 (GRCm39) |
N353K |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,904,890 (GRCm39) |
V79M |
probably damaging |
Het |
| Wfdc18 |
C |
T |
11: 83,600,739 (GRCm39) |
R45* |
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 |
|
|
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 |
|
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 |
74,560,342 (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 |
|
|
Z1187:Cluh
|
UTSW |
11 |
74,560,340 (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'- ATCAACAGAAGGCCGTGCTG -3'
(R):5'- TCCATTACTCCATGCAGCAC -3'
Sequencing Primer
(F):5'- CCGTGCTGATGAGTGAGC -3'
(R):5'- ACCAGCCCGATGTTGTTCTGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation