Incidental Mutation 'R0763:Heatr3'
| ID |
72514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr3
|
| Ensembl Gene |
ENSMUSG00000031657 |
| Gene Name |
HEAT repeat containing 3 |
| Synonyms |
C030036P15Rik |
| MMRRC Submission |
038943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R0763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
88864483-88898655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88884869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 378
(S378P)
|
| 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: S495P
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: S495P
| 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 damaging
Transcript: ENSMUST00000121949
AA Change: S378P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: S378P
| 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: ENSMUST00000131682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146946
|
| Meta Mutation Damage Score |
0.1926 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
96% (52/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
C |
6: 88,815,261 (GRCm39) |
F290V |
probably damaging |
Het |
| Adam26b |
G |
A |
8: 43,973,601 (GRCm39) |
S467L |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,647,244 (GRCm39) |
I3099F |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,997 (GRCm39) |
D2137G |
possibly damaging |
Het |
| Arhgdig |
T |
C |
17: 26,419,275 (GRCm39) |
Y48C |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,337,460 (GRCm39) |
I389V |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,817,226 (GRCm39) |
D920G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,818 (GRCm39) |
N200I |
probably damaging |
Het |
| Casc3 |
T |
C |
11: 98,722,144 (GRCm39) |
Y661H |
probably damaging |
Het |
| Cep120 |
A |
C |
18: 53,854,809 (GRCm39) |
V442G |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,943,841 (GRCm39) |
Y1557H |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,097,022 (GRCm39) |
Q1485K |
possibly damaging |
Het |
| Cntrl |
T |
C |
2: 35,061,078 (GRCm39) |
F1967L |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 17,077,300 (GRCm39) |
T119M |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 66,046,356 (GRCm39) |
H64R |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,813,703 (GRCm39) |
R2899G |
probably damaging |
Het |
| Foxl2 |
A |
C |
9: 98,838,086 (GRCm39) |
T125P |
probably damaging |
Het |
| Foxred1 |
A |
T |
9: 35,118,769 (GRCm39) |
|
probably null |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,133 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,445,096 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
T |
G |
3: 20,057,443 (GRCm39) |
R780S |
probably damaging |
Het |
| Ifi44 |
G |
A |
3: 151,455,135 (GRCm39) |
A30V |
probably damaging |
Het |
| Il12rb1 |
G |
A |
8: 71,265,934 (GRCm39) |
|
probably benign |
Het |
| Invs |
G |
A |
4: 48,392,628 (GRCm39) |
G281R |
possibly damaging |
Het |
| Itgax |
C |
A |
7: 127,747,112 (GRCm39) |
|
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,568,218 (GRCm39) |
C762F |
possibly damaging |
Het |
| Lama1 |
C |
T |
17: 68,079,813 (GRCm39) |
P1229S |
probably damaging |
Het |
| Mmp15 |
C |
A |
8: 96,094,856 (GRCm39) |
D243E |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,052,253 (GRCm39) |
T1004A |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,791 (GRCm39) |
V44E |
probably damaging |
Het |
| N4bp2l1 |
C |
A |
5: 150,517,869 (GRCm39) |
R11S |
possibly damaging |
Het |
| Notch4 |
T |
A |
17: 34,784,306 (GRCm39) |
C36* |
probably null |
Het |
| Nwd1 |
A |
G |
8: 73,397,672 (GRCm39) |
D637G |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,782,264 (GRCm39) |
I238T |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,688,441 (GRCm39) |
E95K |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,838,639 (GRCm39) |
D1256G |
possibly damaging |
Het |
| Ppp1r26 |
T |
C |
2: 28,340,379 (GRCm39) |
L3P |
probably damaging |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
T |
9: 78,460,372 (GRCm39) |
|
probably benign |
Het |
| Slc25a17 |
A |
G |
15: 81,207,907 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
C |
14: 47,528,112 (GRCm39) |
F349S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,851,238 (GRCm39) |
V306A |
probably damaging |
Het |
| Tchhl1 |
A |
C |
3: 93,378,878 (GRCm39) |
E527D |
probably benign |
Het |
| Tm7sf3 |
A |
G |
6: 146,507,787 (GRCm39) |
L425S |
possibly damaging |
Het |
| Tmem266 |
G |
T |
9: 55,322,239 (GRCm39) |
V112L |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,090,539 (GRCm39) |
I223F |
possibly damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,535 (GRCm39) |
G104D |
probably benign |
Het |
| Ttc17 |
G |
T |
2: 94,163,148 (GRCm39) |
A834E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,561,534 (GRCm39) |
V20664M |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,931,020 (GRCm39) |
V323A |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATAGAGTGCCAGGATGTCAAC -3'
(R):5'- GCAATGACCAAACTGATCCAGAGGG -3'
Sequencing Primer
(F):5'- CCAGGATGTCAACGTTAGATTG -3'
(R):5'- GACACACCCTGACTGTCATTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation