Incidental Mutation 'IGL03208:Cluh'
ID |
413209 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cluh
|
Ensembl Gene |
ENSMUSG00000020741 |
Gene Name |
clustered mitochondria (cluA/CLU1) homolog |
Synonyms |
1300001I01Rik |
Accession Numbers |
|
Is this an essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
IGL03208
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
74649495-74670847 bp(+) (GRCm38) |
Type of Mutation |
splice site (4444 bp from exon) |
DNA Base Change (assembly) |
C to A
at 74669506 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099578
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021091]
[ENSMUST00000092915]
[ENSMUST00000102520]
[ENSMUST00000117818]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000021091
|
SMART Domains |
Protein: ENSMUSP00000021091 Gene: ENSMUSG00000020745
Domain | Start | End | E-Value | Type |
LisH
|
7 |
39 |
6.12e-7 |
SMART |
WD40
|
97 |
136 |
2.1e-7 |
SMART |
WD40
|
139 |
178 |
9.73e-12 |
SMART |
WD40
|
181 |
220 |
1.1e-10 |
SMART |
WD40
|
223 |
262 |
9.3e-9 |
SMART |
WD40
|
265 |
324 |
4.65e-9 |
SMART |
WD40
|
327 |
366 |
4.11e-10 |
SMART |
WD40
|
369 |
408 |
8.81e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092915
AA Change: P1320T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090593 Gene: ENSMUSG00000020741 AA Change: P1320T
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: ENSMUST00000102520
|
SMART Domains |
Protein: ENSMUSP00000099578 Gene: ENSMUSG00000020745
Domain | Start | End | E-Value | Type |
LisH
|
7 |
39 |
6.12e-7 |
SMART |
WD40
|
97 |
136 |
2.1e-7 |
SMART |
WD40
|
139 |
178 |
9.73e-12 |
SMART |
WD40
|
181 |
220 |
1.1e-10 |
SMART |
WD40
|
223 |
262 |
9.3e-9 |
SMART |
WD40
|
265 |
324 |
4.65e-9 |
SMART |
WD40
|
327 |
366 |
4.11e-10 |
SMART |
WD40
|
369 |
408 |
8.81e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117818
AA Change: P1269T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113371 Gene: ENSMUSG00000020741 AA Change: P1269T
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: ENSMUST00000126341
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128155
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156794
|
Coding Region Coverage |
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
T |
C |
4: 40,186,424 |
V612A |
possibly damaging |
Het |
Cd72 |
T |
A |
4: 43,452,337 |
T195S |
probably damaging |
Het |
Cntn3 |
T |
C |
6: 102,187,099 |
Y882C |
probably damaging |
Het |
Ctnnal1 |
T |
A |
4: 56,813,833 |
K645N |
probably benign |
Het |
Entpd6 |
T |
A |
2: 150,768,918 |
Y385N |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,611,089 |
Y484C |
probably damaging |
Het |
Exo1 |
G |
A |
1: 175,896,245 |
A386T |
probably benign |
Het |
Fam149b |
T |
C |
14: 20,351,302 |
|
probably benign |
Het |
Fastkd2 |
G |
A |
1: 63,739,206 |
E413K |
probably damaging |
Het |
Fbxl3 |
A |
T |
14: 103,082,940 |
L405* |
probably null |
Het |
Gpr75 |
A |
T |
11: 30,892,699 |
I535F |
probably damaging |
Het |
Irf2 |
A |
C |
8: 46,807,305 |
I53L |
probably damaging |
Het |
Lca5l |
T |
C |
16: 96,178,846 |
E28G |
probably damaging |
Het |
Mon2 |
A |
G |
10: 123,018,069 |
|
probably benign |
Het |
Olfr419 |
A |
G |
1: 174,250,393 |
F178S |
probably damaging |
Het |
Olfr503 |
T |
C |
7: 108,545,119 |
V196A |
probably benign |
Het |
Plekhm1 |
T |
C |
11: 103,376,770 |
K792E |
probably benign |
Het |
Ppp1r14c |
A |
T |
10: 3,423,531 |
D114V |
probably damaging |
Het |
Rnf20 |
G |
T |
4: 49,645,706 |
|
probably benign |
Het |
Srgap1 |
G |
A |
10: 121,792,266 |
P934S |
possibly damaging |
Het |
Sult2b1 |
T |
C |
7: 45,733,629 |
E243G |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,337,100 |
|
probably benign |
Het |
Tshr |
T |
C |
12: 91,533,942 |
L147P |
probably damaging |
Het |
Vmn1r67 |
T |
A |
7: 10,447,098 |
S96R |
possibly damaging |
Het |
|
Other mutations in Cluh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Cluh
|
APN |
11 |
74664064 |
missense |
probably benign |
0.28 |
IGL00858:Cluh
|
APN |
11 |
74659605 |
missense |
possibly damaging |
0.86 |
IGL01380:Cluh
|
APN |
11 |
74665946 |
missense |
probably benign |
0.04 |
IGL02402:Cluh
|
APN |
11 |
74657171 |
missense |
probably damaging |
1.00 |
IGL02620:Cluh
|
APN |
11 |
74665067 |
nonsense |
probably null |
|
IGL02990:Cluh
|
APN |
11 |
74667765 |
splice site |
probably null |
|
IGL03163:Cluh
|
APN |
11 |
74666068 |
missense |
probably benign |
0.44 |
IGL03293:Cluh
|
APN |
11 |
74665752 |
missense |
probably benign |
0.03 |
IGL03408:Cluh
|
APN |
11 |
74665953 |
missense |
probably benign |
0.06 |
spent
|
UTSW |
11 |
74660372 |
missense |
probably damaging |
1.00 |
FR4342:Cluh
|
UTSW |
11 |
74669524 |
small insertion |
probably benign |
|
FR4342:Cluh
|
UTSW |
11 |
74669526 |
small insertion |
probably benign |
|
FR4449:Cluh
|
UTSW |
11 |
74669532 |
small insertion |
probably benign |
|
FR4589:Cluh
|
UTSW |
11 |
74669531 |
small insertion |
probably benign |
|
FR4737:Cluh
|
UTSW |
11 |
74669514 |
small insertion |
probably benign |
|
FR4737:Cluh
|
UTSW |
11 |
74669519 |
small insertion |
probably benign |
|
FR4737:Cluh
|
UTSW |
11 |
74669524 |
small insertion |
probably benign |
|
FR4737:Cluh
|
UTSW |
11 |
74669533 |
small insertion |
probably benign |
|
FR4976:Cluh
|
UTSW |
11 |
74669520 |
small insertion |
probably benign |
|
R0147:Cluh
|
UTSW |
11 |
74665938 |
missense |
probably damaging |
1.00 |
R0153:Cluh
|
UTSW |
11 |
74657350 |
splice site |
probably benign |
|
R0506:Cluh
|
UTSW |
11 |
74664894 |
missense |
probably benign |
0.20 |
R0526:Cluh
|
UTSW |
11 |
74665986 |
missense |
probably benign |
0.05 |
R0834:Cluh
|
UTSW |
11 |
74663805 |
missense |
probably benign |
0.02 |
R1873:Cluh
|
UTSW |
11 |
74662076 |
missense |
possibly damaging |
0.72 |
R1991:Cluh
|
UTSW |
11 |
74659529 |
nonsense |
probably null |
|
R1992:Cluh
|
UTSW |
11 |
74660002 |
missense |
probably damaging |
1.00 |
R2095:Cluh
|
UTSW |
11 |
74661724 |
nonsense |
probably null |
|
R2101:Cluh
|
UTSW |
11 |
74660502 |
splice site |
probably benign |
|
R2103:Cluh
|
UTSW |
11 |
74659529 |
nonsense |
probably null |
|
R2220:Cluh
|
UTSW |
11 |
74667121 |
missense |
probably damaging |
1.00 |
R3702:Cluh
|
UTSW |
11 |
74665356 |
missense |
probably benign |
|
R3853:Cluh
|
UTSW |
11 |
74656453 |
missense |
probably benign |
0.00 |
R3900:Cluh
|
UTSW |
11 |
74667104 |
missense |
probably benign |
0.29 |
R4891:Cluh
|
UTSW |
11 |
74665059 |
missense |
possibly damaging |
0.51 |
R4895:Cluh
|
UTSW |
11 |
74667405 |
missense |
probably damaging |
1.00 |
R5056:Cluh
|
UTSW |
11 |
74661946 |
missense |
probably damaging |
1.00 |
R5089:Cluh
|
UTSW |
11 |
74660372 |
missense |
probably damaging |
1.00 |
R5217:Cluh
|
UTSW |
11 |
74659705 |
missense |
probably damaging |
1.00 |
R5346:Cluh
|
UTSW |
11 |
74665218 |
missense |
probably damaging |
1.00 |
R5382:Cluh
|
UTSW |
11 |
74665109 |
intron |
probably benign |
|
R5516:Cluh
|
UTSW |
11 |
74660444 |
missense |
probably damaging |
1.00 |
R5809:Cluh
|
UTSW |
11 |
74661700 |
missense |
probably damaging |
1.00 |
R6146:Cluh
|
UTSW |
11 |
74667228 |
splice site |
probably null |
|
R6326:Cluh
|
UTSW |
11 |
74666242 |
missense |
probably benign |
0.10 |
R6541:Cluh
|
UTSW |
11 |
74657214 |
missense |
probably damaging |
1.00 |
R6674:Cluh
|
UTSW |
11 |
74666227 |
missense |
probably damaging |
1.00 |
R6870:Cluh
|
UTSW |
11 |
74665384 |
missense |
probably damaging |
1.00 |
R6875:Cluh
|
UTSW |
11 |
74661918 |
missense |
probably damaging |
1.00 |
R7086:Cluh
|
UTSW |
11 |
74667340 |
missense |
possibly damaging |
0.46 |
R7225:Cluh
|
UTSW |
11 |
74666406 |
splice site |
probably null |
|
R7310:Cluh
|
UTSW |
11 |
74669459 |
missense |
probably benign |
0.10 |
R7317:Cluh
|
UTSW |
11 |
74665704 |
missense |
possibly damaging |
0.90 |
R7674:Cluh
|
UTSW |
11 |
74667720 |
missense |
probably damaging |
1.00 |
R7941:Cluh
|
UTSW |
11 |
74659757 |
missense |
probably benign |
0.00 |
R9061:Cluh
|
UTSW |
11 |
74660366 |
missense |
possibly damaging |
0.73 |
R9326:Cluh
|
UTSW |
11 |
74664076 |
missense |
probably benign |
0.00 |
RF020:Cluh
|
UTSW |
11 |
74669538 |
small insertion |
probably benign |
|
RF032:Cluh
|
UTSW |
11 |
74669515 |
small insertion |
probably benign |
|
X0028:Cluh
|
UTSW |
11 |
74663466 |
missense |
probably benign |
0.26 |
Z1177:Cluh
|
UTSW |
11 |
74667754 |
missense |
possibly damaging |
0.82 |
Z1186:Cluh
|
UTSW |
11 |
74669517 |
small insertion |
probably benign |
|
Z1186:Cluh
|
UTSW |
11 |
74669531 |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74669514 |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74669516 |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74669517 |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74669520 |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74669521 |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74669524 |
small insertion |
probably benign |
|
Z1187:Cluh
|
UTSW |
11 |
74669529 |
small insertion |
probably benign |
|
Z1188:Cluh
|
UTSW |
11 |
74669517 |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74669514 |
frame shift |
probably null |
|
Z1189:Cluh
|
UTSW |
11 |
74669517 |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74669519 |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74669523 |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74669529 |
small insertion |
probably benign |
|
Z1189:Cluh
|
UTSW |
11 |
74669530 |
nonsense |
probably null |
|
Z1189:Cluh
|
UTSW |
11 |
74669531 |
small insertion |
probably benign |
|
Z1190:Cluh
|
UTSW |
11 |
74669517 |
small insertion |
probably benign |
|
Z1190:Cluh
|
UTSW |
11 |
74669518 |
small insertion |
probably benign |
|
Z1190:Cluh
|
UTSW |
11 |
74669530 |
small insertion |
probably benign |
|
Z1190:Cluh
|
UTSW |
11 |
74669532 |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74669514 |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74669517 |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74669523 |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74669526 |
small insertion |
probably benign |
|
Z1191:Cluh
|
UTSW |
11 |
74669530 |
small insertion |
probably benign |
|
Z1192:Cluh
|
UTSW |
11 |
74669517 |
small insertion |
probably benign |
|
Z1192:Cluh
|
UTSW |
11 |
74669525 |
small insertion |
probably benign |
|
|
Posted On |
2016-08-02 |