Incidental Mutation 'IGL02145:Heatr3'
| ID |
281719 |
| 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 # |
IGL02145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
88864483-88898655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88871227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 194
(R194C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034079]
[ENSMUST00000121949]
|
| AlphaFold |
Q8BQM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034079
AA Change: R194C
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: R194C
| 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: R77C
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: R77C
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
A |
G |
8: 125,291,187 (GRCm39) |
L40P |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,980,219 (GRCm39) |
I501T |
probably benign |
Het |
| Aldh2 |
A |
G |
5: 121,706,056 (GRCm39) |
*196Q |
probably null |
Het |
| Ankrd65 |
A |
G |
4: 155,875,848 (GRCm39) |
D23G |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,250,292 (GRCm39) |
|
probably null |
Het |
| Armc3 |
C |
T |
2: 19,301,671 (GRCm39) |
S663L |
possibly damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Cul5 |
A |
T |
9: 53,546,375 (GRCm39) |
|
probably benign |
Het |
| Cyba |
T |
C |
8: 123,151,796 (GRCm39) |
I134V |
probably damaging |
Het |
| Cybb |
T |
A |
X: 9,323,257 (GRCm39) |
Q93H |
probably damaging |
Het |
| Cyp4f37 |
G |
T |
17: 32,849,009 (GRCm39) |
K292N |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,281,981 (GRCm39) |
I2850V |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,485,367 (GRCm39) |
I118T |
unknown |
Het |
| Ercc6l |
G |
T |
X: 101,189,148 (GRCm39) |
P454T |
probably benign |
Het |
| Grxcr1 |
A |
G |
5: 68,267,821 (GRCm39) |
E190G |
probably damaging |
Het |
| Hspa12b |
C |
T |
2: 130,985,655 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,642,777 (GRCm39) |
V644A |
probably damaging |
Het |
| Kif26a |
G |
A |
12: 112,143,409 (GRCm39) |
R1221H |
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,102,199 (GRCm39) |
N79D |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,900,661 (GRCm39) |
I253T |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 135,901,509 (GRCm39) |
V111A |
possibly damaging |
Het |
| Lmo7 |
T |
C |
14: 102,139,659 (GRCm39) |
S859P |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,296,453 (GRCm39) |
Q205R |
possibly damaging |
Het |
| Morf4l1 |
A |
G |
9: 89,975,848 (GRCm39) |
Y315H |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,433,486 (GRCm39) |
V1117E |
possibly damaging |
Het |
| Nipal1 |
A |
G |
5: 72,824,274 (GRCm39) |
D206G |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,373,715 (GRCm39) |
S498P |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,109,328 (GRCm39) |
|
probably null |
Het |
| Or14c46 |
C |
A |
7: 85,918,466 (GRCm39) |
C177F |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,886 (GRCm39) |
Y120H |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,317,613 (GRCm39) |
H1278R |
probably damaging |
Het |
| Pprc1 |
C |
A |
19: 46,053,329 (GRCm39) |
|
probably benign |
Het |
| Rab8b |
A |
T |
9: 66,755,000 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
A |
13: 24,901,554 (GRCm39) |
I875N |
probably damaging |
Het |
| Samd9l |
T |
C |
6: 3,374,105 (GRCm39) |
E1052G |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,520,569 (GRCm39) |
I569F |
probably damaging |
Het |
| Spata2l |
C |
T |
8: 123,960,770 (GRCm39) |
G173D |
possibly damaging |
Het |
| Stc2 |
T |
G |
11: 31,317,875 (GRCm39) |
|
probably benign |
Het |
| Tm6sf1 |
C |
A |
7: 81,513,000 (GRCm39) |
Y65* |
probably null |
Het |
| Tspan15 |
A |
G |
10: 62,029,751 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,454 (GRCm39) |
Y179* |
probably null |
Het |
| Washc5 |
C |
A |
15: 59,241,060 (GRCm39) |
V92L |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,575,893 (GRCm39) |
S838P |
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,739,074 (GRCm39) |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation