Incidental Mutation 'R1244:Heatr3'
ID |
152092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr3
|
Ensembl Gene |
ENSMUSG00000031657 |
Gene Name |
HEAT repeat containing 3 |
Synonyms |
C030036P15Rik |
MMRRC Submission |
039311-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.934)
|
Stock # |
R1244 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
88864483-88898655 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88868367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 39
(E39G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034079]
[ENSMUST00000121949]
|
AlphaFold |
Q8BQM4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034079
AA Change: E156G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000034079 Gene: ENSMUSG00000031657 AA Change: E156G
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 |
noncoding transcript
Transcript: ENSMUST00000069786
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121949
AA Change: E39G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112812 Gene: ENSMUSG00000031657 AA Change: E39G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184847
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
T |
12: 71,262,918 (GRCm39) |
T1417I |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,815,561 (GRCm39) |
A270T |
probably benign |
Het |
Abtb3 |
C |
A |
10: 85,223,227 (GRCm39) |
T12K |
unknown |
Het |
Ash2l |
T |
C |
8: 26,307,449 (GRCm39) |
S529G |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,180,654 (GRCm39) |
Y125C |
probably benign |
Het |
Calca |
A |
G |
7: 114,232,962 (GRCm39) |
Y96H |
probably damaging |
Het |
Cct4 |
A |
G |
11: 22,946,417 (GRCm39) |
E131G |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,679,397 (GRCm39) |
D25G |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,749,557 (GRCm39) |
D1728G |
probably damaging |
Het |
Cyp39a1 |
A |
T |
17: 44,060,836 (GRCm39) |
K461N |
probably benign |
Het |
Ddx50 |
T |
A |
10: 62,478,703 (GRCm39) |
Q161L |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,438,554 (GRCm39) |
T90A |
probably benign |
Het |
Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
Hsd11b1 |
T |
G |
1: 192,906,068 (GRCm39) |
M175L |
probably benign |
Het |
Htra1 |
G |
A |
7: 130,586,799 (GRCm39) |
V461I |
possibly damaging |
Het |
Il10 |
A |
G |
1: 130,951,953 (GRCm39) |
D162G |
probably damaging |
Het |
Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Ogfod1 |
A |
G |
8: 94,763,999 (GRCm39) |
D28G |
probably benign |
Het |
Or5an10 |
A |
T |
19: 12,275,860 (GRCm39) |
I212N |
probably damaging |
Het |
Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
Ppp4c |
A |
G |
7: 126,385,452 (GRCm39) |
V119A |
probably damaging |
Het |
Scn2a |
T |
C |
2: 65,593,999 (GRCm39) |
I1616T |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,472,190 (GRCm39) |
N1390S |
probably benign |
Het |
Sub1 |
A |
T |
15: 11,991,130 (GRCm39) |
V37E |
possibly damaging |
Het |
Tbc1d17 |
A |
T |
7: 44,493,822 (GRCm39) |
V267E |
probably damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn1r77 |
A |
T |
7: 11,775,847 (GRCm39) |
T140S |
possibly damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,441,092 (GRCm39) |
Y255* |
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 |
IGL01653:Heatr3
|
APN |
8 |
88,871,245 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGCCCAAGGGATGGACCATGTAG -3'
(R):5'- GGAAGAGAAGCAGCCTTGTTCCTC -3'
Sequencing Primer
(F):5'- ACCATGTAGAGAACTGTACCTG -3'
(R):5'- ATCAGCCAATGTTCGTGGTC -3'
|
Posted On |
2014-01-29 |