Incidental Mutation 'R6146:Cluh'
| ID |
501868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cluh
|
| Ensembl Gene |
ENSMUSG00000020741 |
| Gene Name |
clustered mitochondria homolog |
| Synonyms |
1300001I01Rik |
| MMRRC Submission |
044293-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R6146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74540321-74561673 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 74558054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092915]
[ENSMUST00000117818]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092915
|
| SMART Domains |
Protein: ENSMUSP00000090593
Gene: ENSMUSG00000020741
| 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 null
Transcript: ENSMUST00000117818
|
| SMART Domains |
Protein: ENSMUSP00000113371
Gene: ENSMUSG00000020741
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,946,587 (GRCm39) |
E29G |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,491,628 (GRCm39) |
S552P |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,593,829 (GRCm39) |
I129T |
probably benign |
Het |
| Adhfe1 |
A |
G |
1: 9,623,943 (GRCm39) |
N148S |
probably damaging |
Het |
| AI182371 |
A |
G |
2: 34,987,983 (GRCm39) |
Y77H |
probably damaging |
Het |
| Aldh5a1 |
C |
T |
13: 25,103,661 (GRCm39) |
|
probably null |
Het |
| Ankrd2 |
A |
G |
19: 42,028,544 (GRCm39) |
T67A |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,287,604 (GRCm39) |
C232* |
probably null |
Het |
| Cchcr1 |
A |
G |
17: 35,839,475 (GRCm39) |
D587G |
possibly damaging |
Het |
| Cgn |
G |
T |
3: 94,674,435 (GRCm39) |
Q901K |
possibly damaging |
Het |
| Cip2a |
A |
T |
16: 48,814,692 (GRCm39) |
K18* |
probably null |
Het |
| Crebbp |
G |
A |
16: 3,902,487 (GRCm39) |
Q2213* |
probably null |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,036 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
T |
C |
13: 25,389,440 (GRCm39) |
V456A |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,126,075 (GRCm39) |
E569G |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,459,331 (GRCm39) |
F4517L |
probably benign |
Het |
| Doc2b |
T |
C |
11: 75,664,421 (GRCm39) |
K317E |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,180,181 (GRCm39) |
D1951E |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,149 (GRCm39) |
I65L |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,586,548 (GRCm39) |
K417E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,532,165 (GRCm39) |
M96V |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,892 (GRCm39) |
Y135* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,102,812 (GRCm39) |
R1238Q |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,939,056 (GRCm39) |
N255S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,341,345 (GRCm39) |
D945G |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,765,432 (GRCm39) |
D537G |
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,019,149 (GRCm39) |
I992F |
probably damaging |
Het |
| Lzts1 |
A |
G |
8: 69,593,524 (GRCm39) |
S28P |
probably benign |
Het |
| Mrc2 |
C |
A |
11: 105,216,470 (GRCm39) |
N86K |
probably damaging |
Het |
| Mroh6 |
C |
A |
15: 75,758,486 (GRCm39) |
A302S |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,409,093 (GRCm39) |
N198Y |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,512 (GRCm39) |
S1423P |
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,662 (GRCm39) |
D277V |
possibly damaging |
Het |
| Or2b28 |
A |
T |
13: 21,531,164 (GRCm39) |
Y22F |
possibly damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,077 (GRCm39) |
V122A |
probably benign |
Het |
| Or5p56 |
G |
T |
7: 107,589,620 (GRCm39) |
G16V |
probably damaging |
Het |
| Or5w17 |
A |
C |
2: 87,583,602 (GRCm39) |
L245R |
probably damaging |
Het |
| Or9g4 |
T |
A |
2: 85,504,938 (GRCm39) |
K186* |
probably null |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Polg |
T |
C |
7: 79,100,260 (GRCm39) |
M1184V |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,694,463 (GRCm39) |
Y108C |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,385,540 (GRCm39) |
I474N |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,354,391 (GRCm39) |
|
probably benign |
Het |
| Rbp1 |
C |
A |
9: 98,307,669 (GRCm39) |
D79E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,326,825 (GRCm39) |
V1605A |
probably benign |
Het |
| Rps24 |
A |
T |
14: 24,540,803 (GRCm39) |
|
probably null |
Het |
| Setd5 |
T |
C |
6: 113,098,773 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,333,359 (GRCm39) |
E1536G |
probably damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,532,228 (GRCm39) |
I435V |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,180,534 (GRCm39) |
M623L |
probably benign |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Spn |
A |
G |
7: 126,735,479 (GRCm39) |
S343P |
possibly damaging |
Het |
| Sptan1 |
A |
G |
2: 29,894,535 (GRCm39) |
T1168A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,064,012 (GRCm39) |
L2138* |
probably null |
Het |
| Tg |
T |
A |
15: 66,545,216 (GRCm39) |
|
probably null |
Het |
| Tigd5 |
T |
A |
15: 75,782,094 (GRCm39) |
L152Q |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,447,126 (GRCm39) |
V170I |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,298,913 (GRCm39) |
C1068R |
possibly damaging |
Het |
| Ubr1 |
A |
T |
2: 120,723,690 (GRCm39) |
Y1290N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,817 (GRCm39) |
F188I |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,742,522 (GRCm39) |
V299I |
probably benign |
Het |
| Vmn2r91 |
T |
G |
17: 18,356,518 (GRCm39) |
H728Q |
probably benign |
Het |
| Vta1 |
T |
C |
10: 14,581,096 (GRCm39) |
Y37C |
probably damaging |
Het |
| Wbp2 |
C |
A |
11: 115,974,728 (GRCm39) |
M35I |
probably benign |
Het |
| Zcchc9 |
G |
A |
13: 91,953,986 (GRCm39) |
Q90* |
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 |
|
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 |
|
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'- CCCAACACCATTCAGGAATATGTG -3'
(R):5'- TTGTAGTGACAGCCAGTGCG -3'
Sequencing Primer
(F):5'- CACCATTCAGGAATATGTGAGTAGCC -3'
(R):5'- AGTGCGTTCTCCAAGAAGC -3'
|
| Posted On |
2017-12-04 |
Incidental Mutation