Incidental Mutation 'R9604:Heatr6'
| ID |
723840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr6
|
| Ensembl Gene |
ENSMUSG00000000976 |
| Gene Name |
HEAT repeat containing 6 |
| Synonyms |
2700008B19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R9604 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83644522-83674580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83668188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 894
(M894T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001002]
|
| AlphaFold |
Q6P1G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001002
AA Change: M894T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: M894T
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,597,570 (GRCm39) |
F79S |
probably damaging |
Het |
| Ankrd60 |
A |
T |
2: 173,412,987 (GRCm39) |
I167N |
probably benign |
Het |
| Atp13a3 |
G |
T |
16: 30,168,506 (GRCm39) |
D494E |
probably damaging |
Het |
| Cep83 |
A |
C |
10: 94,554,939 (GRCm39) |
H35P |
possibly damaging |
Het |
| Cpne3 |
A |
G |
4: 19,555,477 (GRCm39) |
V6A |
probably benign |
Het |
| Dnm3 |
G |
A |
1: 161,838,584 (GRCm39) |
A259V |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,737,056 (GRCm39) |
I575V |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,500,255 (GRCm39) |
N676S |
possibly damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Gal3st4 |
T |
A |
5: 138,264,011 (GRCm39) |
K329N |
probably benign |
Het |
| Gm15446 |
T |
C |
5: 110,088,314 (GRCm39) |
V9A |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,815,435 (GRCm39) |
|
probably null |
Het |
| Harbi1 |
T |
C |
2: 91,542,689 (GRCm39) |
V50A |
probably damaging |
Het |
| Hcn2 |
T |
C |
10: 79,564,787 (GRCm39) |
C400R |
probably damaging |
Het |
| Hid1 |
A |
T |
11: 115,243,466 (GRCm39) |
H527Q |
|
Het |
| Ifitm1 |
C |
T |
7: 140,548,227 (GRCm39) |
A20V |
probably benign |
Het |
| Klk1b11 |
T |
A |
7: 43,427,850 (GRCm39) |
L213Q |
|
Het |
| Lepr |
A |
G |
4: 101,590,473 (GRCm39) |
Y17C |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,493 (GRCm39) |
V113E |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,182,680 (GRCm39) |
R1062K |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,444,295 (GRCm39) |
N81K |
probably benign |
Het |
| Nol6 |
A |
G |
4: 41,120,298 (GRCm39) |
I473T |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,381,807 (GRCm39) |
S344T |
probably benign |
Het |
| Pals2 |
C |
A |
6: 50,173,597 (GRCm39) |
A487E |
probably benign |
Het |
| Pde12 |
A |
G |
14: 26,390,008 (GRCm39) |
Y234H |
possibly damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,015,680 (GRCm39) |
C288Y |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,739,731 (GRCm39) |
T27A |
probably damaging |
Het |
| Pls1 |
T |
A |
9: 95,644,057 (GRCm39) |
I480F |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,187,075 (GRCm39) |
I394T |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,994,249 (GRCm39) |
C1365S |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Tap1 |
A |
C |
17: 34,412,172 (GRCm39) |
D459A |
probably damaging |
Het |
| Tas2r125 |
T |
C |
6: 132,887,023 (GRCm39) |
I137T |
probably benign |
Het |
| Tent5a |
C |
A |
9: 85,206,677 (GRCm39) |
V374L |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,159,827 (GRCm39) |
|
probably null |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,193 (GRCm39) |
I26T |
possibly 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 |
|
R8704:Heatr6
|
UTSW |
11 |
83,668,104 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- GAGGCAGCAGTGTAAACTCC -3'
(R):5'- GGGTATACACTTACAATAGCACATGG -3'
Sequencing Primer
(F):5'- AACTCCTTAGTAATGTAGCCTGG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation