Incidental Mutation 'IGL01653:Heatr3'
| ID |
102885 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Heatr3
|
| Ensembl Gene |
ENSMUSG00000031657 |
| Gene Name |
HEAT repeat containing 3 |
| Synonyms |
C030036P15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL01653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
88864483-88898655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88871245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 83
(I83V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034079]
[ENSMUST00000121949]
|
| AlphaFold |
Q8BQM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034079
AA Change: I200V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: I200V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_EZ
|
41 |
106 |
2.5e-11 |
PFAM |
|
Blast:ARM
|
111 |
171 |
2e-25 |
BLAST |
|
Blast:ARM
|
172 |
215 |
1e-15 |
BLAST |
|
low complexity region
|
357 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121949
AA Change: I83V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: I83V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ARM
|
1 |
54 |
7e-20 |
BLAST |
|
Blast:ARM
|
55 |
98 |
8e-16 |
BLAST |
|
low complexity region
|
240 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
276 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
| Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
| Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
| Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
| Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
| Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
| Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
| Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
Het |
|
| Other mutations in Heatr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00544:Heatr3
|
APN |
8 |
88,868,367 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00780:Heatr3
|
APN |
8 |
88,897,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01105:Heatr3
|
APN |
8 |
88,888,521 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02129:Heatr3
|
APN |
8 |
88,884,899 (GRCm39) |
splice site |
probably benign |
|
|
IGL02145:Heatr3
|
APN |
8 |
88,871,227 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02177:Heatr3
|
APN |
8 |
88,883,351 (GRCm39) |
missense |
probably benign |
|
|
IGL02309:Heatr3
|
APN |
8 |
88,893,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Heatr3
|
APN |
8 |
88,871,185 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03379:Heatr3
|
APN |
8 |
88,876,738 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0763:Heatr3
|
UTSW |
8 |
88,884,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1244:Heatr3
|
UTSW |
8 |
88,868,367 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1883:Heatr3
|
UTSW |
8 |
88,871,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1988:Heatr3
|
UTSW |
8 |
88,876,945 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2043:Heatr3
|
UTSW |
8 |
88,874,322 (GRCm39) |
splice site |
probably benign |
|
|
R2079:Heatr3
|
UTSW |
8 |
88,868,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2402:Heatr3
|
UTSW |
8 |
88,871,200 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3916:Heatr3
|
UTSW |
8 |
88,876,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3917:Heatr3
|
UTSW |
8 |
88,876,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4127:Heatr3
|
UTSW |
8 |
88,864,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4182:Heatr3
|
UTSW |
8 |
88,897,630 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4190:Heatr3
|
UTSW |
8 |
88,864,888 (GRCm39) |
unclassified |
probably benign |
|
|
R4769:Heatr3
|
UTSW |
8 |
88,868,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6046:Heatr3
|
UTSW |
8 |
88,866,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Heatr3
|
UTSW |
8 |
88,864,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6888:Heatr3
|
UTSW |
8 |
88,897,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Heatr3
|
UTSW |
8 |
88,883,402 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8278:Heatr3
|
UTSW |
8 |
88,883,361 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9076:Heatr3
|
UTSW |
8 |
88,876,827 (GRCm39) |
missense |
probably benign |
|
|
R9262:Heatr3
|
UTSW |
8 |
88,883,097 (GRCm39) |
missense |
probably benign |
0.32 |
|
RF025:Heatr3
|
UTSW |
8 |
88,883,084 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF031:Heatr3
|
UTSW |
8 |
88,883,085 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF033:Heatr3
|
UTSW |
8 |
88,883,084 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF040:Heatr3
|
UTSW |
8 |
88,883,085 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation