Incidental Mutation 'R5217:Cluh'
ID |
403554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cluh
|
Ensembl Gene |
ENSMUSG00000020741 |
Gene Name |
clustered mitochondria homolog |
Synonyms |
1300001I01Rik |
MMRRC Submission |
042790-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R5217 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74540321-74561673 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 74550531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 252
(C252W)
|
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: C252W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090593 Gene: ENSMUSG00000020741 AA Change: C252W
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: C252W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113371 Gene: ENSMUSG00000020741 AA Change: C252W
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: ENSMUST00000130398
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155558
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
Validation Efficiency |
100% (80/80) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
Abhd11 |
T |
A |
5: 135,040,398 (GRCm39) |
W144R |
probably damaging |
Het |
Abhd2 |
A |
G |
7: 78,973,378 (GRCm39) |
E119G |
probably benign |
Het |
Acbd3 |
A |
G |
1: 180,553,938 (GRCm39) |
Y91C |
probably benign |
Het |
Aox4 |
C |
A |
1: 58,285,400 (GRCm39) |
S628* |
probably null |
Het |
Bahcc1 |
T |
A |
11: 120,165,285 (GRCm39) |
Y905* |
probably null |
Het |
Baiap2l2 |
T |
G |
15: 79,154,687 (GRCm39) |
S211R |
probably benign |
Het |
Cab39l |
T |
A |
14: 59,764,258 (GRCm39) |
Y206* |
probably null |
Het |
Cacna1i |
A |
T |
15: 80,275,041 (GRCm39) |
T1830S |
possibly damaging |
Het |
Catsperg1 |
A |
T |
7: 28,889,723 (GRCm39) |
L793* |
probably null |
Het |
Cdh10 |
G |
T |
15: 18,966,108 (GRCm39) |
V198F |
probably damaging |
Het |
Cenpk |
A |
T |
13: 104,385,917 (GRCm39) |
I271F |
probably damaging |
Het |
Chchd4 |
A |
T |
6: 91,442,260 (GRCm39) |
C53S |
probably damaging |
Het |
Cmklr1 |
G |
T |
5: 113,752,710 (GRCm39) |
A97E |
probably damaging |
Het |
Coil |
C |
A |
11: 88,871,987 (GRCm39) |
A116D |
possibly damaging |
Het |
Eif1ad9 |
A |
G |
12: 88,296,196 (GRCm39) |
H58R |
probably benign |
Het |
F830045P16Rik |
C |
A |
2: 129,305,493 (GRCm39) |
V294F |
probably damaging |
Het |
Fgd6 |
T |
A |
10: 93,969,939 (GRCm39) |
M1196K |
possibly damaging |
Het |
Gabra5 |
G |
A |
7: 57,140,604 (GRCm39) |
S31L |
probably benign |
Het |
Gm7135 |
A |
T |
1: 97,362,790 (GRCm39) |
|
noncoding transcript |
Het |
Gon4l |
C |
A |
3: 88,794,882 (GRCm39) |
T695K |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,491,614 (GRCm39) |
H3684R |
possibly damaging |
Het |
Ica1l |
T |
A |
1: 60,054,917 (GRCm39) |
M105L |
probably benign |
Het |
Ift70a1 |
A |
G |
2: 75,811,147 (GRCm39) |
L312P |
probably damaging |
Het |
Igkv8-24 |
A |
T |
6: 70,194,386 (GRCm39) |
V7D |
probably damaging |
Het |
Klf10 |
G |
A |
15: 38,296,331 (GRCm39) |
R420W |
probably damaging |
Het |
Klrc2 |
C |
A |
6: 129,633,843 (GRCm39) |
W177C |
probably damaging |
Het |
Krit1 |
T |
A |
5: 3,856,451 (GRCm39) |
C15* |
probably null |
Het |
Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
Lrrc37a |
C |
T |
11: 103,347,780 (GRCm39) |
V2972I |
unknown |
Het |
Mapkapk5 |
T |
C |
5: 121,672,492 (GRCm39) |
D13G |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,838,489 (GRCm39) |
L804I |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mrto4 |
A |
G |
4: 139,075,770 (GRCm39) |
Y119H |
probably benign |
Het |
Nbeal2 |
G |
T |
9: 110,461,158 (GRCm39) |
A1635E |
possibly damaging |
Het |
Ndc1 |
T |
C |
4: 107,246,773 (GRCm39) |
S399P |
probably benign |
Het |
Ndufv2 |
A |
G |
17: 66,394,424 (GRCm39) |
I147T |
probably damaging |
Het |
Neb |
C |
A |
2: 52,052,142 (GRCm39) |
E382* |
probably null |
Het |
Nhsl3 |
C |
T |
4: 129,116,478 (GRCm39) |
E729K |
probably damaging |
Het |
Nme8 |
T |
A |
13: 19,880,861 (GRCm39) |
I32F |
probably damaging |
Het |
Obox5 |
T |
A |
7: 15,491,793 (GRCm39) |
|
probably null |
Het |
Or8g23 |
A |
G |
9: 38,971,065 (GRCm39) |
V299A |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,630,939 (GRCm39) |
M245L |
probably benign |
Het |
Pex5l |
A |
T |
3: 33,061,477 (GRCm39) |
|
probably null |
Het |
Phrf1 |
T |
G |
7: 140,840,616 (GRCm39) |
D1270E |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,382,790 (GRCm39) |
K277E |
possibly damaging |
Het |
Ppan |
T |
C |
9: 20,802,221 (GRCm39) |
V204A |
possibly damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,115,367 (GRCm39) |
N830I |
probably damaging |
Het |
Pxn |
C |
G |
5: 115,682,974 (GRCm39) |
A92G |
probably benign |
Het |
Qsox1 |
A |
G |
1: 155,666,742 (GRCm39) |
V249A |
probably benign |
Het |
Rgl3 |
T |
A |
9: 21,898,944 (GRCm39) |
*88C |
probably null |
Het |
Rps6kc1 |
A |
T |
1: 190,515,802 (GRCm39) |
W975R |
probably damaging |
Het |
Sash1 |
G |
T |
10: 8,656,368 (GRCm39) |
A208D |
possibly damaging |
Het |
Simc1 |
A |
T |
13: 54,687,709 (GRCm39) |
|
probably benign |
Het |
Sox7 |
T |
C |
14: 64,185,449 (GRCm39) |
Y162H |
probably damaging |
Het |
Srp72 |
T |
A |
5: 77,128,375 (GRCm39) |
L171H |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,881,476 (GRCm39) |
Y577F |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tagln |
T |
C |
9: 45,842,177 (GRCm39) |
T139A |
probably benign |
Het |
Thbs3 |
T |
C |
3: 89,130,471 (GRCm39) |
|
probably null |
Het |
Tmem216 |
G |
A |
19: 10,529,155 (GRCm39) |
T131M |
possibly damaging |
Het |
Tmprss11c |
A |
G |
5: 86,404,249 (GRCm39) |
V142A |
probably benign |
Het |
Trarg1 |
C |
G |
11: 76,585,102 (GRCm39) |
A164G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubtf |
T |
C |
11: 102,199,128 (GRCm39) |
M511V |
probably null |
Het |
Ugt2b36 |
A |
T |
5: 87,214,114 (GRCm39) |
V510E |
probably damaging |
Het |
Vars2 |
G |
C |
17: 35,969,041 (GRCm39) |
P887A |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,004,980 (GRCm39) |
M206V |
possibly damaging |
Het |
Zbtb5 |
A |
G |
4: 44,993,990 (GRCm39) |
F465L |
probably benign |
Het |
Zfp119a |
G |
A |
17: 56,172,425 (GRCm39) |
Q473* |
probably null |
Het |
Zfp607a |
T |
G |
7: 27,577,269 (GRCm39) |
I113R |
probably damaging |
Het |
Zfp998 |
A |
T |
13: 66,581,787 (GRCm39) |
L28H |
probably damaging |
Het |
Zmym6 |
C |
A |
4: 126,999,167 (GRCm39) |
N450K |
possibly 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 |
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'- CACCTGAGTATATCCTGCCG -3'
(R):5'- TCACAAAGCAGGTGCCGTAAG -3'
Sequencing Primer
(F):5'- AGTATATCCTGCCGGGGAG -3'
(R):5'- TTTGTCATTAGACTCAGAACACGGGG -3'
|
Posted On |
2016-07-22 |