Incidental Mutation 'R8398:Heatr6'
| ID |
647727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr6
|
| Ensembl Gene |
ENSMUSG00000000976 |
| Gene Name |
HEAT repeat containing 6 |
| Synonyms |
2700008B19Rik |
| MMRRC Submission |
067761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.886)
|
| Stock # |
R8398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83644522-83674580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83672164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1057
(E1057D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001002]
|
| AlphaFold |
Q6P1G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001002
AA Change: E1057D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: E1057D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,330,797 (GRCm39) |
D6086G |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,641,394 (GRCm39) |
S105P |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,906,252 (GRCm39) |
Y256N |
probably damaging |
Het |
| Asap3 |
G |
A |
4: 135,961,704 (GRCm39) |
M271I |
probably benign |
Het |
| Bbof1 |
T |
C |
12: 84,475,188 (GRCm39) |
L459P |
probably damaging |
Het |
| Ccl21a |
T |
C |
4: 42,773,412 (GRCm39) |
T109A |
probably benign |
Het |
| Cnot6 |
C |
T |
11: 49,593,445 (GRCm39) |
R12Q |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,771,621 (GRCm39) |
Q925* |
probably null |
Het |
| Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
| Dvl2 |
T |
A |
11: 69,899,128 (GRCm39) |
L462Q |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,099,577 (GRCm39) |
R206C |
probably damaging |
Het |
| Gjd4 |
C |
T |
18: 9,280,326 (GRCm39) |
V251M |
possibly damaging |
Het |
| Glud1 |
A |
G |
14: 34,033,228 (GRCm39) |
D125G |
probably benign |
Het |
| Gm10428 |
T |
C |
11: 62,644,173 (GRCm39) |
I83T |
unknown |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm3045 |
A |
G |
13: 56,577,280 (GRCm39) |
T143A |
possibly damaging |
Het |
| Hoxa9 |
T |
C |
6: 52,201,403 (GRCm39) |
T213A |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,720 (GRCm39) |
D242V |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,838,827 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
C |
T |
2: 40,591,819 (GRCm39) |
C3827Y |
|
Het |
| Mast2 |
A |
T |
4: 116,165,946 (GRCm39) |
S1261T |
probably damaging |
Het |
| Mex3b |
T |
A |
7: 82,518,842 (GRCm39) |
F386I |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,095,242 (GRCm39) |
M465K |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,265,695 (GRCm39) |
F470L |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,487,883 (GRCm39) |
N400S |
probably benign |
Het |
| Ndnf |
T |
C |
6: 65,681,362 (GRCm39) |
V547A |
probably damaging |
Het |
| Noc3l |
A |
T |
19: 38,783,554 (GRCm39) |
D607E |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,542,175 (GRCm39) |
V25A |
probably benign |
Het |
| Pcdha11 |
G |
A |
18: 37,146,116 (GRCm39) |
G736R |
possibly damaging |
Het |
| Pcgf3 |
A |
G |
5: 108,647,509 (GRCm39) |
N205S |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Psg27 |
T |
C |
7: 18,295,837 (GRCm39) |
T203A |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,939 (GRCm39) |
T889A |
probably benign |
Het |
| Sars1 |
C |
T |
3: 108,335,489 (GRCm39) |
|
probably null |
Het |
| Scrn2 |
G |
T |
11: 96,921,730 (GRCm39) |
V67L |
probably benign |
Het |
| Slc1a4 |
T |
C |
11: 20,257,982 (GRCm39) |
D380G |
probably damaging |
Het |
| Slc9a1 |
A |
T |
4: 133,146,814 (GRCm39) |
Q516L |
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,933,184 (GRCm39) |
Y627H |
probably damaging |
Het |
| Spon2 |
G |
T |
5: 33,374,154 (GRCm39) |
H76Q |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Sppl2b |
CTGTCACA |
C |
10: 80,701,902 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,523,783 (GRCm39) |
Y550C |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,222,408 (GRCm39) |
D558G |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,074,923 (GRCm39) |
E1134G |
probably damaging |
Het |
| Thbd |
C |
T |
2: 148,248,600 (GRCm39) |
V423I |
probably benign |
Het |
| V1rd19 |
C |
A |
7: 23,703,374 (GRCm39) |
S280* |
probably null |
Het |
| Zfp947 |
A |
T |
17: 22,365,102 (GRCm39) |
C191S |
probably benign |
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 |
|
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 |
|
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'- GAATTCTTCCTAGGGACAGCTCC -3'
(R):5'- CATCTGGACTCTTTCCTGTGGG -3'
Sequencing Primer
(F):5'- TAGGGACAGCTCCGTGGAC -3'
(R):5'- CTGCTCCTGATTTTAAGAACTGTAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation