Incidental Mutation 'R4190:Heatr3'
| ID |
319916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr3
|
| Ensembl Gene |
ENSMUSG00000031657 |
| Gene Name |
HEAT repeat containing 3 |
| Synonyms |
C030036P15Rik |
| MMRRC Submission |
041021-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R4190 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
88864483-88898655 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 88864888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034079]
[ENSMUST00000095214]
[ENSMUST00000121949]
[ENSMUST00000127490]
|
| AlphaFold |
Q8BQM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034079
|
| SMART Domains |
Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
| 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 |
probably benign
Transcript: ENSMUST00000095214
|
| SMART Domains |
Protein: ENSMUSP00000092839
Gene: ENSMUSG00000036810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_18A
|
5 |
122 |
1.6e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121949
|
| SMART Domains |
Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
| 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 |
probably benign
Transcript: ENSMUST00000127490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184847
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (50/52) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,709,811 (GRCm39) |
Y156C |
unknown |
Het |
| Ankrd13b |
G |
A |
11: 77,367,201 (GRCm39) |
A21V |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,564,499 (GRCm39) |
V914A |
probably damaging |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Calcr |
T |
A |
6: 3,717,106 (GRCm39) |
D118V |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,371,711 (GRCm39) |
V1330A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,720,885 (GRCm39) |
E2567G |
unknown |
Het |
| Ctse |
T |
A |
1: 131,590,479 (GRCm39) |
V67D |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Dipk1b |
T |
C |
2: 26,526,193 (GRCm39) |
Y376H |
probably damaging |
Het |
| Fahd2a |
C |
T |
2: 127,280,486 (GRCm39) |
V156I |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,772,196 (GRCm39) |
V1125A |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,639,391 (GRCm39) |
C129S |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 27,142,660 (GRCm39) |
L606P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Mtmr10 |
G |
T |
7: 63,963,934 (GRCm39) |
W223L |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,488,062 (GRCm39) |
T758S |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,171,993 (GRCm39) |
S556P |
probably damaging |
Het |
| Or4c126 |
C |
A |
2: 89,823,918 (GRCm39) |
Y60* |
probably null |
Het |
| Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,968,836 (GRCm39) |
N267S |
possibly damaging |
Het |
| Or6c33 |
A |
T |
10: 129,853,847 (GRCm39) |
I206F |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Plscr5 |
T |
C |
9: 92,080,651 (GRCm39) |
S46P |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 124,424,123 (GRCm38) |
|
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,737,812 (GRCm39) |
V743A |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,714,808 (GRCm39) |
N119K |
probably damaging |
Het |
| Telo2 |
T |
C |
17: 25,320,987 (GRCm39) |
T743A |
probably benign |
Het |
| Trav6-1 |
A |
G |
14: 52,875,976 (GRCm39) |
N2S |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,732,314 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,163 (GRCm39) |
L225* |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,556 (GRCm39) |
Y561H |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,093,820 (GRCm39) |
C60* |
probably null |
Het |
| Zfp202 |
T |
C |
9: 40,122,633 (GRCm39) |
V465A |
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 |
|
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 |
|
|
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'- AGTTCTCCCCTATCGAGAGCTG -3'
(R):5'- TTGTTTGCTCGCAGGGACAC -3'
Sequencing Primer
(F):5'- TATCGAGAGCTGTCAGGCC -3'
(R):5'- TCTCGGGCTCACCTCAGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation