Incidental Mutation 'R8704:Heatr6'
ID |
669202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr6
|
Ensembl Gene |
ENSMUSG00000000976 |
Gene Name |
HEAT repeat containing 6 |
Synonyms |
2700008B19Rik |
MMRRC Submission |
068558-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.886)
|
Stock # |
R8704 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83644522-83674580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83668104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 866
(M866K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001002]
|
AlphaFold |
Q6P1G0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001002
AA Change: M866K
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000001002 Gene: ENSMUSG00000000976 AA Change: M866K
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: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,773,489 (GRCm39) |
Q628R |
possibly damaging |
Het |
Agbl1 |
G |
T |
7: 76,239,302 (GRCm39) |
|
probably benign |
Het |
Brf2 |
A |
G |
8: 27,618,499 (GRCm39) |
V35A |
possibly damaging |
Het |
Chtf8 |
A |
C |
8: 107,612,672 (GRCm39) |
M89R |
probably benign |
Het |
Copa |
A |
G |
1: 171,931,693 (GRCm39) |
I315V |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,091,147 (GRCm39) |
E229K |
|
Het |
Etf1 |
T |
C |
18: 35,039,139 (GRCm39) |
E376G |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,172,137 (GRCm39) |
I2859F |
probably damaging |
Het |
Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
Gal3st3 |
T |
C |
19: 5,352,663 (GRCm39) |
V30A |
probably benign |
Het |
Gars1 |
C |
T |
6: 55,040,215 (GRCm39) |
R381C |
probably damaging |
Het |
Gjd3 |
C |
T |
11: 98,873,445 (GRCm39) |
R133H |
probably damaging |
Het |
Haspin |
T |
C |
11: 73,028,828 (GRCm39) |
N87S |
probably benign |
Het |
Hcrt |
A |
T |
11: 100,652,752 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
C |
7: 67,819,802 (GRCm39) |
|
probably benign |
Het |
Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
Lypd5 |
A |
G |
7: 24,050,982 (GRCm39) |
H31R |
possibly damaging |
Het |
Mib2 |
A |
G |
4: 155,743,620 (GRCm39) |
M275T |
possibly damaging |
Het |
Mmp19 |
G |
A |
10: 128,634,703 (GRCm39) |
V440I |
probably benign |
Het |
Nefm |
T |
C |
14: 68,358,510 (GRCm39) |
E508G |
unknown |
Het |
Nlrp4a |
A |
T |
7: 26,156,563 (GRCm39) |
I763L |
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,711 (GRCm39) |
V123D |
possibly damaging |
Het |
Or9g4 |
T |
A |
2: 85,504,562 (GRCm39) |
H311L |
|
Het |
Pcdhb1 |
T |
A |
18: 37,399,402 (GRCm39) |
V451D |
possibly damaging |
Het |
Pfkfb2 |
T |
C |
1: 130,625,780 (GRCm39) |
N467D |
probably benign |
Het |
Ptprc |
G |
A |
1: 138,043,362 (GRCm39) |
T63I |
probably benign |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Rhobtb2 |
G |
A |
14: 70,031,373 (GRCm39) |
P584L |
probably damaging |
Het |
Rhoc |
G |
C |
3: 104,699,342 (GRCm39) |
A44P |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,120,477 (GRCm39) |
E435G |
possibly damaging |
Het |
Stfa1 |
A |
T |
16: 36,105,536 (GRCm39) |
D89V |
probably damaging |
Het |
Tec |
T |
C |
5: 72,926,105 (GRCm39) |
K316E |
probably damaging |
Het |
Tsen15 |
A |
T |
1: 152,247,541 (GRCm39) |
Y150* |
probably null |
Het |
Ugt1a5 |
T |
C |
1: 88,094,087 (GRCm39) |
I105T |
probably benign |
Het |
Usp25 |
A |
G |
16: 76,856,178 (GRCm39) |
D257G |
probably benign |
Het |
Vmn1r195 |
A |
G |
13: 22,463,058 (GRCm39) |
Y176C |
possibly damaging |
Het |
Wdr31 |
G |
A |
4: 62,380,442 (GRCm39) |
A87V |
probably benign |
Het |
Wwp2 |
A |
T |
8: 108,212,228 (GRCm39) |
T177S |
probably benign |
Het |
Zfp28 |
T |
C |
7: 6,397,637 (GRCm39) |
C691R |
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 |
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 |
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'- ACTGTCAGGACGTTGTTGAG -3'
(R):5'- TGCCAATTCTTTCGCAGTAGGG -3'
Sequencing Primer
(F):5'- AGGCTCACACTGGCTCCATAG -3'
(R):5'- TTCTTTCGCAGTAGGGATGAAAGAC -3'
|
Posted On |
2021-04-30 |