Incidental Mutation 'R5489:Heatr6'
| ID |
431999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr6
|
| Ensembl Gene |
ENSMUSG00000000976 |
| Gene Name |
HEAT repeat containing 6 |
| Synonyms |
|
| MMRRC Submission |
043050-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.795)
|
| Stock # |
R5489 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83753696-83783754 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83774432 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 741
(E741G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001002]
|
| AlphaFold |
Q6P1G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001002
AA Change: E741G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: E741G
| 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: ENSMUST00000136572
|
| Meta Mutation Damage Score |
0.3529 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
95% (57/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,377,952 (GRCm38) |
M1K |
probably null |
Het |
| Abca14 |
T |
A |
7: 120,252,250 (GRCm38) |
V817D |
probably damaging |
Het |
| Aqr |
T |
C |
2: 114,133,073 (GRCm38) |
N632S |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,413,745 (GRCm38) |
T208A |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,608,645 (GRCm38) |
|
probably null |
Het |
| Caln1 |
G |
T |
5: 130,414,832 (GRCm38) |
R2L |
possibly damaging |
Het |
| Cdk17 |
A |
G |
10: 93,232,412 (GRCm38) |
T344A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,213,048 (GRCm38) |
|
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,268,249 (GRCm38) |
F196L |
probably damaging |
Het |
| Clec2f |
T |
C |
6: 129,020,486 (GRCm38) |
|
noncoding transcript |
Het |
| Col4a1 |
A |
T |
8: 11,312,550 (GRCm38) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,616,525 (GRCm38) |
R579H |
probably damaging |
Het |
| Cyb561 |
A |
G |
11: 105,935,523 (GRCm38) |
V202A |
probably benign |
Het |
| Cyp2c69 |
T |
G |
19: 39,851,159 (GRCm38) |
Q340P |
probably null |
Het |
| D630003M21Rik |
T |
A |
2: 158,217,021 (GRCm38) |
T320S |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,196,847 (GRCm38) |
S129T |
possibly damaging |
Het |
| Ddx54 |
A |
G |
5: 120,624,721 (GRCm38) |
T636A |
probably benign |
Het |
| Dnah8 |
T |
G |
17: 30,790,956 (GRCm38) |
F3774V |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,407,529 (GRCm38) |
S674P |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 59,024,318 (GRCm38) |
L8Q |
probably null |
Het |
| Fam83b |
T |
C |
9: 76,545,599 (GRCm38) |
N62S |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,209,970 (GRCm38) |
V94E |
probably damaging |
Het |
| Frmd8 |
T |
A |
19: 5,852,652 (GRCm38) |
Q457L |
probably damaging |
Het |
| Gm1966 |
T |
A |
7: 106,601,590 (GRCm38) |
|
noncoding transcript |
Het |
| Hnrnpab |
A |
G |
11: 51,604,813 (GRCm38) |
L133S |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,843,435 (GRCm38) |
W1077R |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,669,264 (GRCm38) |
D1228G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,841,038 (GRCm38) |
|
probably benign |
Het |
| Leap2 |
T |
G |
11: 53,422,413 (GRCm38) |
*77C |
probably null |
Het |
| Mmp20 |
A |
G |
9: 7,643,957 (GRCm38) |
|
probably null |
Het |
| Mrps9 |
T |
G |
1: 42,898,433 (GRCm38) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,751,432 (GRCm38) |
S158P |
probably benign |
Het |
| Mus81 |
T |
C |
19: 5,487,889 (GRCm38) |
|
probably benign |
Het |
| Nrip3 |
T |
C |
7: 109,761,838 (GRCm38) |
T210A |
probably damaging |
Het |
| Olfr591 |
T |
C |
7: 103,173,451 (GRCm38) |
Y62C |
probably damaging |
Het |
| Padi2 |
T |
C |
4: 140,944,488 (GRCm38) |
F509S |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,022,207 (GRCm38) |
T660A |
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,382,676 (GRCm38) |
P1197L |
probably benign |
Het |
| Rec8 |
A |
T |
14: 55,622,826 (GRCm38) |
Q291L |
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,411,490 (GRCm38) |
|
probably null |
Het |
| Sart3 |
A |
G |
5: 113,771,380 (GRCm38) |
W86R |
probably damaging |
Het |
| Slc17a4 |
A |
G |
13: 23,898,842 (GRCm38) |
|
probably null |
Het |
| Tdpoz1 |
T |
A |
3: 93,670,667 (GRCm38) |
Y270F |
possibly damaging |
Het |
| Thap3 |
T |
A |
4: 151,985,652 (GRCm38) |
|
probably benign |
Het |
| Tmem45a |
T |
A |
16: 56,825,711 (GRCm38) |
|
probably null |
Het |
| Trim43a |
A |
T |
9: 88,582,176 (GRCm38) |
I47F |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,770,542 (GRCm38) |
I2044L |
probably benign |
Het |
| Zfp735 |
G |
A |
11: 73,710,593 (GRCm38) |
W121* |
probably null |
Het |
| Zmym2 |
A |
G |
14: 56,956,255 (GRCm38) |
K1176E |
possibly damaging |
Het |
|
| Other mutations in Heatr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Heatr6
|
APN |
11 |
83,759,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01681:Heatr6
|
APN |
11 |
83,765,000 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01905:Heatr6
|
APN |
11 |
83,781,712 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02037:Heatr6
|
APN |
11 |
83,764,882 (GRCm38) |
splice site |
probably benign |
|
|
IGL02313:Heatr6
|
APN |
11 |
83,778,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02652:Heatr6
|
APN |
11 |
83,769,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03004:Heatr6
|
APN |
11 |
83,757,379 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03229:Heatr6
|
APN |
11 |
83,781,445 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03386:Heatr6
|
APN |
11 |
83,759,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02802:Heatr6
|
UTSW |
11 |
83,760,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0537:Heatr6
|
UTSW |
11 |
83,779,464 (GRCm38) |
nonsense |
probably null |
|
|
R1658:Heatr6
|
UTSW |
11 |
83,758,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1864:Heatr6
|
UTSW |
11 |
83,769,230 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1893:Heatr6
|
UTSW |
11 |
83,757,314 (GRCm38) |
missense |
probably benign |
0.33 |
|
R1944:Heatr6
|
UTSW |
11 |
83,769,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2115:Heatr6
|
UTSW |
11 |
83,757,455 (GRCm38) |
unclassified |
probably benign |
|
|
R3019:Heatr6
|
UTSW |
11 |
83,778,832 (GRCm38) |
splice site |
probably null |
|
|
R4050:Heatr6
|
UTSW |
11 |
83,755,773 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4532:Heatr6
|
UTSW |
11 |
83,769,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4576:Heatr6
|
UTSW |
11 |
83,765,000 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4724:Heatr6
|
UTSW |
11 |
83,779,548 (GRCm38) |
nonsense |
probably null |
|
|
R4825:Heatr6
|
UTSW |
11 |
83,758,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5970:Heatr6
|
UTSW |
11 |
83,753,718 (GRCm38) |
unclassified |
probably benign |
|
|
R6136:Heatr6
|
UTSW |
11 |
83,772,503 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6145:Heatr6
|
UTSW |
11 |
83,766,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6649:Heatr6
|
UTSW |
11 |
83,759,365 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6653:Heatr6
|
UTSW |
11 |
83,759,365 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6791:Heatr6
|
UTSW |
11 |
83,758,341 (GRCm38) |
missense |
probably benign |
|
|
R6865:Heatr6
|
UTSW |
11 |
83,769,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7154:Heatr6
|
UTSW |
11 |
83,777,241 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7385:Heatr6
|
UTSW |
11 |
83,759,335 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7473:Heatr6
|
UTSW |
11 |
83,781,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7959:Heatr6
|
UTSW |
11 |
83,781,363 (GRCm38) |
nonsense |
probably null |
|
|
R8034:Heatr6
|
UTSW |
11 |
83,753,909 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8202:Heatr6
|
UTSW |
11 |
83,759,408 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8398:Heatr6
|
UTSW |
11 |
83,781,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8472:Heatr6
|
UTSW |
11 |
83,765,853 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8704:Heatr6
|
UTSW |
11 |
83,777,278 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9604:Heatr6
|
UTSW |
11 |
83,777,362 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0014:Heatr6
|
UTSW |
11 |
83,781,250 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1177:Heatr6
|
UTSW |
11 |
83,781,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Heatr6
|
UTSW |
11 |
83,766,081 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGCTCTGTCAGAGTCGC -3'
(R):5'- GCACCATAGTTTTCAACACTGG -3'
Sequencing Primer
(F):5'- CATTGGATCTCACAAGTTCGAGGC -3'
(R):5'- TGGAGGAAATGACATCACCTGCTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation