Incidental Mutation 'IGL03379:Heatr3'
| ID |
420618 |
| 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 # |
IGL03379
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
88864483-88898655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88876738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 143
(K143R)
|
| 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: K260R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: K260R
| 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: K143R
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: K143R
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,809,602 (GRCm39) |
T260A |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,885,500 (GRCm39) |
V559A |
probably benign |
Het |
| Arrdc5 |
G |
A |
17: 56,601,589 (GRCm39) |
Q179* |
probably null |
Het |
| Atrnl1 |
T |
C |
19: 57,630,973 (GRCm39) |
Y247H |
probably benign |
Het |
| Bend5 |
T |
A |
4: 111,311,468 (GRCm39) |
S361T |
probably benign |
Het |
| Cdc20b |
A |
G |
13: 113,217,736 (GRCm39) |
D385G |
probably damaging |
Het |
| Cep120 |
C |
T |
18: 53,842,208 (GRCm39) |
S709N |
probably benign |
Het |
| Eif2b4 |
A |
G |
5: 31,347,355 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
T |
A |
12: 78,913,354 (GRCm39) |
D18E |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,666,827 (GRCm39) |
S209N |
possibly damaging |
Het |
| Farp2 |
T |
A |
1: 93,535,160 (GRCm39) |
F636L |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,789,342 (GRCm39) |
D636V |
possibly damaging |
Het |
| Gm5082 |
T |
C |
13: 41,809,902 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird1 |
C |
T |
5: 134,411,392 (GRCm39) |
G672D |
possibly damaging |
Het |
| Hrc |
A |
G |
7: 44,986,679 (GRCm39) |
E610G |
probably benign |
Het |
| Ica1l |
G |
A |
1: 60,036,780 (GRCm39) |
S337F |
probably benign |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,625 (GRCm39) |
Y99C |
probably benign |
Het |
| Kcna3 |
T |
A |
3: 106,944,521 (GRCm39) |
F261L |
probably benign |
Het |
| Kdm4d |
T |
C |
9: 14,375,139 (GRCm39) |
R240G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,058,447 (GRCm39) |
I620N |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,591,104 (GRCm39) |
M55V |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,035,062 (GRCm39) |
L366Q |
possibly damaging |
Het |
| Or5p68 |
T |
C |
7: 107,946,196 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
T |
C |
5: 150,711,796 (GRCm39) |
V918A |
probably damaging |
Het |
| Plcz1 |
G |
A |
6: 139,936,490 (GRCm39) |
L580F |
possibly damaging |
Het |
| Prlr |
C |
A |
15: 10,319,403 (GRCm39) |
P147T |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,509,338 (GRCm39) |
|
probably null |
Het |
| Ptprt |
A |
T |
2: 161,397,379 (GRCm39) |
C1109* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,199,907 (GRCm39) |
S1212R |
probably benign |
Het |
| Scn2b |
T |
A |
9: 45,037,498 (GRCm39) |
C182S |
probably damaging |
Het |
| Slc7a14 |
A |
T |
3: 31,277,664 (GRCm39) |
M647K |
probably damaging |
Het |
| Sult2a6 |
G |
A |
7: 13,956,511 (GRCm39) |
T250I |
probably benign |
Het |
| Syn3 |
A |
T |
10: 85,900,736 (GRCm39) |
M384K |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,685,561 (GRCm39) |
T596A |
probably benign |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Vat1l |
A |
T |
8: 115,009,006 (GRCm39) |
I247F |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,906 (GRCm39) |
D223G |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,200,847 (GRCm39) |
D99E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,462,477 (GRCm39) |
V901I |
unknown |
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 |
|
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 |
2016-08-02 |
Incidental Mutation