Incidental Mutation 'R8202:Heatr6'
| ID |
635726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr6
|
| Ensembl Gene |
ENSMUSG00000000976 |
| Gene Name |
HEAT repeat containing 6 |
| Synonyms |
2700008B19Rik |
| MMRRC Submission |
067625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R8202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83644522-83674580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83650234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 230
(T230K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001002]
|
| AlphaFold |
Q6P1G0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001002
AA Change: T230K
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: T230K
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,057 (GRCm39) |
R36C |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,728,874 (GRCm39) |
H127L |
probably damaging |
Het |
| B4galt4 |
A |
G |
16: 38,588,274 (GRCm39) |
Q306R |
probably benign |
Het |
| Bckdha |
G |
A |
7: 25,329,738 (GRCm39) |
H431Y |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,274,195 (GRCm39) |
M2256L |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,607,768 (GRCm39) |
F298L |
possibly damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,896,953 (GRCm39) |
A640T |
|
Het |
| Cers3 |
A |
G |
7: 66,435,761 (GRCm39) |
D240G |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,919,495 (GRCm39) |
E99G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,369,649 (GRCm39) |
V1609A |
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,502,486 (GRCm39) |
F1329S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,355,202 (GRCm39) |
Q1825R |
probably damaging |
Het |
| Guf1 |
C |
A |
5: 69,720,545 (GRCm39) |
A335E |
possibly damaging |
Het |
| Klhl11 |
G |
A |
11: 100,354,150 (GRCm39) |
S557L |
probably benign |
Het |
| Map10 |
A |
G |
8: 126,397,647 (GRCm39) |
N347D |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,227,497 (GRCm39) |
I313V |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,532,448 (GRCm39) |
T131M |
probably damaging |
Het |
| Npr1 |
T |
A |
3: 90,368,731 (GRCm39) |
Y443F |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,480,765 (GRCm39) |
N163S |
possibly damaging |
Het |
| Nufip1 |
A |
G |
14: 76,348,604 (GRCm39) |
I78V |
probably benign |
Het |
| Oplah |
C |
T |
15: 76,186,669 (GRCm39) |
G670D |
probably benign |
Het |
| Or51a24 |
A |
G |
7: 103,734,198 (GRCm39) |
S30P |
probably benign |
Het |
| Or5j3 |
A |
T |
2: 86,128,968 (GRCm39) |
E269D |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,626,518 (GRCm39) |
*313W |
probably null |
Het |
| Pcnx1 |
T |
G |
12: 81,941,821 (GRCm39) |
I73S |
probably benign |
Het |
| Pigp |
A |
T |
16: 94,165,528 (GRCm39) |
N204K |
probably benign |
Het |
| Prelid2 |
T |
A |
18: 42,065,802 (GRCm39) |
I78F |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,189,750 (GRCm39) |
Y1516C |
probably damaging |
Het |
| Rab31 |
T |
C |
17: 65,974,881 (GRCm39) |
E157G |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,180 (GRCm39) |
Y445H |
probably damaging |
Het |
| Rnf220 |
T |
A |
4: 117,347,070 (GRCm39) |
H114L |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,790,457 (GRCm39) |
W1450R |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,761,786 (GRCm39) |
Y69C |
probably benign |
Het |
| Smc3 |
T |
C |
19: 53,617,123 (GRCm39) |
I512T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
| St3gal3 |
T |
A |
4: 117,964,868 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,011,917 (GRCm39) |
F338L |
probably damaging |
Het |
| Tgs1 |
G |
A |
4: 3,586,097 (GRCm39) |
A325T |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,494 (GRCm39) |
I261K |
probably damaging |
Het |
| Trim3 |
A |
T |
7: 105,260,632 (GRCm39) |
H662Q |
possibly damaging |
Het |
| Unc13c |
C |
T |
9: 73,643,844 (GRCm39) |
V1207M |
probably damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,749 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r33 |
A |
T |
7: 7,557,153 (GRCm39) |
C516S |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,851,328 (GRCm39) |
V2321A |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,387,589 (GRCm39) |
T4874K |
unknown |
Het |
| Zfp677 |
T |
C |
17: 21,613,535 (GRCm39) |
L43S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,642,760 (GRCm39) |
|
probably null |
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 |
|
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'- GTGTTCCAGACTTAGCGGTC -3'
(R):5'- CCAAAGGTGTGACTTCAGTGC -3'
Sequencing Primer
(F):5'- GCATTGCCGTTGCTAATGC -3'
(R):5'- GTGCTGCTGACATATAGACACCATTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation