Incidental Mutation 'IGL02037:Heatr6'
| ID |
184576 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Heatr6
|
| Ensembl Gene |
ENSMUSG00000000976 |
| Gene Name |
HEAT repeat containing 6 |
| Synonyms |
2700008B19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
IGL02037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83644522-83674580 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 83655708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001002]
|
| AlphaFold |
Q6P1G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001002
|
| SMART Domains |
Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
| 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: ENSMUST00000127428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158006
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
A |
6: 92,804,997 (GRCm39) |
|
probably benign |
Het |
| Ace2 |
T |
A |
X: 162,946,996 (GRCm39) |
V293D |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,317,185 (GRCm39) |
Y545C |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,376,742 (GRCm39) |
T293A |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,973,707 (GRCm39) |
T65A |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,956,682 (GRCm39) |
|
probably null |
Het |
| Cbfb |
T |
C |
8: 105,905,252 (GRCm39) |
S65P |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,576 (GRCm39) |
S604P |
possibly damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,191,643 (GRCm39) |
V271A |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,371,263 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,038,559 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,007 (GRCm39) |
T492A |
probably benign |
Het |
| Fam3a |
G |
A |
X: 73,430,241 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,229,087 (GRCm39) |
C708S |
probably damaging |
Het |
| Fgf5 |
G |
A |
5: 98,409,831 (GRCm39) |
G127R |
probably damaging |
Het |
| Fhip1a |
T |
G |
3: 85,637,939 (GRCm39) |
K120T |
probably damaging |
Het |
| Fn3k |
A |
T |
11: 121,325,909 (GRCm39) |
Y32F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,338,118 (GRCm39) |
I137T |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,531 (GRCm39) |
D1041G |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,309,553 (GRCm39) |
A598T |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,483,007 (GRCm39) |
S254P |
probably benign |
Het |
| Kel |
T |
C |
6: 41,674,408 (GRCm39) |
S341G |
probably benign |
Het |
| Klra6 |
A |
C |
6: 129,990,439 (GRCm39) |
M224R |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,183,522 (GRCm39) |
|
probably null |
Het |
| Mpeg1 |
C |
T |
19: 12,440,660 (GRCm39) |
T706I |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Or5al7 |
G |
T |
2: 85,993,181 (GRCm39) |
F37L |
probably benign |
Het |
| Palld |
T |
C |
8: 61,978,148 (GRCm39) |
R881G |
probably damaging |
Het |
| Pdha2 |
A |
T |
3: 140,916,662 (GRCm39) |
V282E |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,654,065 (GRCm39) |
R46Q |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,068,122 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,479 (GRCm39) |
T527A |
probably benign |
Het |
| Rplp0 |
G |
A |
5: 115,699,174 (GRCm39) |
R73Q |
probably benign |
Het |
| Smco3 |
A |
G |
6: 136,808,197 (GRCm39) |
*226R |
probably null |
Het |
| Sugp2 |
T |
C |
8: 70,712,324 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,846,098 (GRCm39) |
I343V |
probably benign |
Het |
| Ube2q2 |
A |
G |
9: 55,075,502 (GRCm39) |
K104E |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,925,506 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
C |
X: 20,585,381 (GRCm39) |
I785T |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,026 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,555,185 (GRCm39) |
V721A |
possibly damaging |
Het |
| Zfp946 |
T |
C |
17: 22,672,469 (GRCm39) |
S23P |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,594,694 (GRCm39) |
V766A |
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 |
|
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 |
|
R0537:Heatr6
|
UTSW |
11 |
83,670,290 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation