Incidental Mutation 'R1873:Cluh'
ID |
210959 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cluh
|
Ensembl Gene |
ENSMUSG00000020741 |
Gene Name |
clustered mitochondria homolog |
Synonyms |
1300001I01Rik |
MMRRC Submission |
039895-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R1873 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74540321-74561673 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 74552902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 649
(A649V)
|
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: A649V
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000090593 Gene: ENSMUSG00000020741 AA Change: A649V
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: A649V
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113371 Gene: ENSMUSG00000020741 AA Change: A649V
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 |
0.2764 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 92.9%
|
Validation Efficiency |
98% (82/84) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,870,781 (GRCm39) |
I124L |
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
Adam34 |
A |
C |
8: 44,104,843 (GRCm39) |
N267K |
probably benign |
Het |
Anxa5 |
T |
C |
3: 36,503,551 (GRCm39) |
D301G |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,536,886 (GRCm39) |
D40Y |
probably damaging |
Het |
Cacna2d2 |
T |
G |
9: 107,391,071 (GRCm39) |
M400R |
probably damaging |
Het |
Cd96 |
C |
A |
16: 45,938,335 (GRCm39) |
L43F |
probably damaging |
Het |
Cep120 |
T |
C |
18: 53,871,560 (GRCm39) |
E104G |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,881,389 (GRCm39) |
I358V |
probably benign |
Het |
Cfhr4 |
C |
T |
1: 139,702,398 (GRCm39) |
E29K |
probably damaging |
Het |
Chil4 |
C |
T |
3: 106,113,414 (GRCm39) |
E168K |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,452,590 (GRCm39) |
V631A |
probably damaging |
Het |
Commd9 |
A |
G |
2: 101,727,502 (GRCm39) |
T99A |
probably benign |
Het |
Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
Cyth3 |
T |
A |
5: 143,683,516 (GRCm39) |
H138Q |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,495,691 (GRCm39) |
|
probably benign |
Het |
Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,652,303 (GRCm39) |
V1135A |
probably benign |
Het |
Glcci1 |
C |
A |
6: 8,537,837 (GRCm39) |
H152N |
probably benign |
Het |
Gm10477 |
T |
A |
X: 55,570,127 (GRCm39) |
F9Y |
probably damaging |
Het |
Gnrhr |
A |
G |
5: 86,330,060 (GRCm39) |
L320P |
probably damaging |
Het |
Gorasp1 |
A |
T |
9: 119,759,306 (GRCm39) |
S138T |
probably benign |
Het |
Hars1 |
C |
A |
18: 36,900,294 (GRCm39) |
Q469H |
probably damaging |
Het |
Homer2 |
T |
C |
7: 81,286,111 (GRCm39) |
K34E |
probably damaging |
Het |
Hscb |
T |
C |
5: 110,978,823 (GRCm39) |
I198V |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,567,057 (GRCm39) |
S39P |
probably damaging |
Het |
Kcnk12 |
G |
T |
17: 88,053,499 (GRCm39) |
Q388K |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,874,104 (GRCm39) |
I548T |
probably benign |
Het |
Mark2 |
A |
G |
19: 7,261,880 (GRCm39) |
Y351H |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,952 (GRCm39) |
I678F |
probably damaging |
Het |
Mc4r |
A |
T |
18: 66,992,531 (GRCm39) |
I194N |
probably damaging |
Het |
Ms4a6d |
A |
G |
19: 11,579,223 (GRCm39) |
S85P |
probably damaging |
Het |
Myh4 |
T |
A |
11: 67,145,569 (GRCm39) |
Y1351N |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,322,789 (GRCm39) |
D73G |
probably damaging |
Het |
Mzt1 |
C |
T |
14: 99,278,097 (GRCm39) |
|
probably null |
Het |
Nalcn |
G |
A |
14: 123,521,013 (GRCm39) |
H1631Y |
probably benign |
Het |
Ncf2 |
A |
G |
1: 152,701,661 (GRCm39) |
N213S |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,437,987 (GRCm39) |
T99K |
probably damaging |
Het |
Nsf |
T |
C |
11: 103,749,843 (GRCm39) |
S547G |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,112,587 (GRCm39) |
I190F |
probably benign |
Het |
Obsl1 |
T |
C |
1: 75,474,877 (GRCm39) |
Y841C |
probably damaging |
Het |
Ogdh |
A |
T |
11: 6,290,438 (GRCm39) |
|
probably benign |
Het |
Or2ag12 |
T |
A |
7: 106,277,691 (GRCm39) |
M1L |
probably damaging |
Het |
Or5b12 |
C |
T |
19: 12,896,852 (GRCm39) |
V274M |
probably damaging |
Het |
Otog |
G |
A |
7: 45,918,767 (GRCm39) |
V948I |
probably damaging |
Het |
Plekhm1 |
T |
C |
11: 103,264,824 (GRCm39) |
D880G |
probably benign |
Het |
Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
Polg |
A |
G |
7: 79,106,241 (GRCm39) |
L678S |
probably benign |
Het |
Ptprm |
C |
T |
17: 66,995,350 (GRCm39) |
V1293I |
probably damaging |
Het |
Pwwp3a |
T |
A |
10: 80,068,442 (GRCm39) |
D195E |
possibly damaging |
Het |
Rhou |
A |
T |
8: 124,387,990 (GRCm39) |
R241W |
probably damaging |
Het |
Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,621,276 (GRCm39) |
|
probably benign |
Het |
Sost |
T |
C |
11: 101,855,069 (GRCm39) |
E80G |
probably damaging |
Het |
Spag16 |
C |
T |
1: 69,935,744 (GRCm39) |
|
probably benign |
Het |
Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
Taf1b |
T |
A |
12: 24,606,668 (GRCm39) |
L496Q |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,173,786 (GRCm39) |
I976T |
probably damaging |
Het |
Tex14 |
T |
A |
11: 87,390,431 (GRCm39) |
V376D |
probably damaging |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,873,680 (GRCm39) |
D606G |
probably damaging |
Het |
Tmc2 |
A |
C |
2: 130,090,676 (GRCm39) |
N674T |
possibly damaging |
Het |
Top3a |
C |
A |
11: 60,638,810 (GRCm39) |
E562* |
probably null |
Het |
Umodl1 |
A |
T |
17: 31,201,238 (GRCm39) |
D389V |
probably damaging |
Het |
Uso1 |
T |
C |
5: 92,340,718 (GRCm39) |
|
probably benign |
Het |
Vmn1r205 |
A |
G |
13: 22,776,223 (GRCm39) |
V293A |
possibly damaging |
Het |
Vmn2r107 |
A |
G |
17: 20,565,840 (GRCm39) |
T52A |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,298,479 (GRCm39) |
V461I |
possibly damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,582,415 (GRCm39) |
I7F |
probably benign |
Het |
Vps11 |
A |
G |
9: 44,271,233 (GRCm39) |
F80S |
probably damaging |
Het |
Wdr43 |
A |
G |
17: 71,940,647 (GRCm39) |
S258G |
probably benign |
Het |
Zbtb24 |
A |
G |
10: 41,327,123 (GRCm39) |
D3G |
probably benign |
Het |
Zc3hav1 |
C |
T |
6: 38,309,692 (GRCm39) |
V377I |
possibly damaging |
Het |
Zfp668 |
T |
C |
7: 127,465,654 (GRCm39) |
|
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 |
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 |
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'- GTACTCAATGACCGAGACGAGG -3'
(R):5'- GTTCCTGCATCTGGAGATCTG -3'
Sequencing Primer
(F):5'- CTGCTCCTCGGTCGAGTGTAAG -3'
(R):5'- CATCTGGAGATCTGAGGCAGGC -3'
|
Posted On |
2014-06-30 |