Incidental Mutation 'R0537:Heatr6'
| ID |
49510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr6
|
| Ensembl Gene |
ENSMUSG00000000976 |
| Gene Name |
HEAT repeat containing 6 |
| Synonyms |
2700008B19Rik |
| MMRRC Submission |
038729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R0537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83644522-83674580 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 83670290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 948
(E948*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001002]
|
| AlphaFold |
Q6P1G0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001002
AA Change: E948*
|
| SMART Domains |
Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: E948*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
402 |
N/A |
INTRINSIC |
|
Pfam:DUF4042
|
421 |
602 |
9.6e-73 |
PFAM |
|
low complexity region
|
603 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1091 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136572
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
T |
14: 35,818,657 (GRCm39) |
K218N |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,619,652 (GRCm39) |
E156G |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,094,224 (GRCm39) |
N973K |
probably damaging |
Het |
| B4galt3 |
T |
C |
1: 171,101,821 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
T |
C |
14: 34,165,769 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
T |
17: 85,702,087 (GRCm39) |
I184F |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,737 (GRCm39) |
Y163C |
probably damaging |
Het |
| Ccdc9 |
A |
G |
7: 16,014,701 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
T |
1: 160,888,318 (GRCm39) |
C201S |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,312,767 (GRCm39) |
S194R |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,148,941 (GRCm39) |
D1473G |
probably benign |
Het |
| Dpm2 |
T |
A |
2: 32,462,961 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
C |
18: 20,591,628 (GRCm39) |
S456P |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,089,425 (GRCm39) |
S195P |
probably damaging |
Het |
| Itgal |
G |
A |
7: 126,910,445 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,103 (GRCm39) |
T172S |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,840,604 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,975,562 (GRCm39) |
F121S |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,622,817 (GRCm39) |
R1966W |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,256 (GRCm39) |
F247L |
possibly damaging |
Het |
| Nebl |
G |
T |
2: 17,409,026 (GRCm39) |
D392E |
possibly damaging |
Het |
| Notch2 |
C |
A |
3: 98,024,057 (GRCm39) |
N840K |
possibly damaging |
Het |
| Nubp1 |
T |
C |
16: 10,240,678 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,577,017 (GRCm39) |
Q159L |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,444 (GRCm39) |
S167P |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,897 (GRCm39) |
S455T |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,184,516 (GRCm39) |
E828G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rala |
A |
T |
13: 18,063,233 (GRCm39) |
N119K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,975,362 (GRCm39) |
V1149E |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,715,501 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rps18-ps6 |
A |
T |
13: 97,897,071 (GRCm39) |
F9Y |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,431,752 (GRCm39) |
D635E |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,116 (GRCm39) |
T335A |
possibly damaging |
Het |
| Slc11a2 |
C |
T |
15: 100,303,679 (GRCm39) |
G185R |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,967 (GRCm39) |
R274H |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,032,618 (GRCm39) |
V2276A |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Tmem168 |
C |
A |
6: 13,603,360 (GRCm39) |
C2F |
probably damaging |
Het |
| Tmem80 |
A |
G |
7: 140,913,609 (GRCm39) |
Y13C |
probably damaging |
Het |
| Try4 |
T |
A |
6: 41,281,296 (GRCm39) |
N79K |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,225,318 (GRCm39) |
N798K |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,813 (GRCm39) |
|
probably benign |
Het |
| Zfp30 |
A |
T |
7: 29,492,160 (GRCm39) |
E138V |
probably damaging |
Het |
| Zfp366 |
A |
C |
13: 99,365,786 (GRCm39) |
T316P |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,883,621 (GRCm39) |
H162R |
probably damaging |
Het |
|
| Other mutations in Heatr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Heatr6
|
APN |
11 |
83,650,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01681:Heatr6
|
APN |
11 |
83,655,826 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01905:Heatr6
|
APN |
11 |
83,672,538 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02037:Heatr6
|
APN |
11 |
83,655,708 (GRCm39) |
splice site |
probably benign |
|
|
IGL02313:Heatr6
|
APN |
11 |
83,669,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Heatr6
|
APN |
11 |
83,660,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03004:Heatr6
|
APN |
11 |
83,648,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03229:Heatr6
|
APN |
11 |
83,672,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03386:Heatr6
|
APN |
11 |
83,650,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Heatr6
|
UTSW |
11 |
83,651,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Heatr6
|
UTSW |
11 |
83,649,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Heatr6
|
UTSW |
11 |
83,660,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1893:Heatr6
|
UTSW |
11 |
83,648,140 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1944:Heatr6
|
UTSW |
11 |
83,660,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Heatr6
|
UTSW |
11 |
83,648,281 (GRCm39) |
unclassified |
probably benign |
|
|
R3019:Heatr6
|
UTSW |
11 |
83,669,658 (GRCm39) |
splice site |
probably null |
|
|
R4050:Heatr6
|
UTSW |
11 |
83,646,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4532:Heatr6
|
UTSW |
11 |
83,660,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Heatr6
|
UTSW |
11 |
83,655,826 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4724:Heatr6
|
UTSW |
11 |
83,670,374 (GRCm39) |
nonsense |
probably null |
|
|
R4825:Heatr6
|
UTSW |
11 |
83,649,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Heatr6
|
UTSW |
11 |
83,665,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5970:Heatr6
|
UTSW |
11 |
83,644,544 (GRCm39) |
unclassified |
probably benign |
|
|
R6136:Heatr6
|
UTSW |
11 |
83,663,329 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6145:Heatr6
|
UTSW |
11 |
83,656,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Heatr6
|
UTSW |
11 |
83,650,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6653:Heatr6
|
UTSW |
11 |
83,650,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6791:Heatr6
|
UTSW |
11 |
83,649,167 (GRCm39) |
missense |
probably benign |
|
|
R6865:Heatr6
|
UTSW |
11 |
83,659,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Heatr6
|
UTSW |
11 |
83,668,067 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7385:Heatr6
|
UTSW |
11 |
83,650,161 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7473:Heatr6
|
UTSW |
11 |
83,672,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7959:Heatr6
|
UTSW |
11 |
83,672,189 (GRCm39) |
nonsense |
probably null |
|
|
R8034:Heatr6
|
UTSW |
11 |
83,644,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8202:Heatr6
|
UTSW |
11 |
83,650,234 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8398:Heatr6
|
UTSW |
11 |
83,672,164 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8472:Heatr6
|
UTSW |
11 |
83,656,679 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8704:Heatr6
|
UTSW |
11 |
83,668,104 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9604:Heatr6
|
UTSW |
11 |
83,668,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0014:Heatr6
|
UTSW |
11 |
83,672,076 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Heatr6
|
UTSW |
11 |
83,672,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Heatr6
|
UTSW |
11 |
83,656,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACGGGACATTTAAAAGCATGGG -3'
(R):5'- CCTTTAGCAACAGCACAGACTGGC -3'
Sequencing Primer
(F):5'- CATTTAAAAGCATGGGCTCTGG -3'
(R):5'- GCACAGACTGGCCTACTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation