Incidental Mutation 'R5970:Heatr6'
| ID |
470813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr6
|
| Ensembl Gene |
ENSMUSG00000000976 |
| Gene Name |
HEAT repeat containing 6 |
| Synonyms |
2700008B19Rik |
| MMRRC Submission |
044153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R5970 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83644522-83674580 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 83644544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001002]
[ENSMUST00000070832]
|
| AlphaFold |
Q6P1G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001002
|
| SMART Domains |
Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
| 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 |
probably benign
Transcript: ENSMUST00000070832
|
| SMART Domains |
Protein: ENSMUSP00000064479
Gene: ENSMUSG00000051748
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
Blast:WAP
|
23 |
63 |
4e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125831
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
G |
A |
6: 90,574,028 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,615,810 (GRCm39) |
V413A |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,507,824 (GRCm39) |
D41V |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,247,468 (GRCm39) |
V184A |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,925,497 (GRCm39) |
G936V |
possibly damaging |
Het |
| Ccser1 |
T |
A |
6: 61,288,226 (GRCm39) |
S130T |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,697,868 (GRCm39) |
I56V |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,821,570 (GRCm39) |
I486T |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,694,050 (GRCm39) |
I1557V |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,823,046 (GRCm39) |
I104F |
unknown |
Het |
| Cry2 |
A |
G |
2: 92,243,312 (GRCm39) |
S510P |
probably benign |
Het |
| Csmd2 |
G |
C |
4: 128,439,944 (GRCm39) |
A3133P |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,459,621 (GRCm39) |
A611S |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,743,749 (GRCm39) |
G1197E |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,885,793 (GRCm39) |
F2969L |
probably benign |
Het |
| Dnai1 |
A |
G |
4: 41,625,281 (GRCm39) |
K415R |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,842,610 (GRCm39) |
T1253S |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,678 (GRCm39) |
L1542P |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,170,682 (GRCm39) |
L1234Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 4,018,590 (GRCm39) |
R585S |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,583,552 (GRCm39) |
|
probably null |
Het |
| Kcns2 |
A |
G |
15: 34,839,930 (GRCm39) |
D431G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,962,342 (GRCm39) |
N1543D |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mical3 |
G |
A |
6: 120,935,232 (GRCm39) |
Q893* |
probably null |
Het |
| Morc3 |
C |
T |
16: 93,663,341 (GRCm39) |
H515Y |
possibly damaging |
Het |
| Mprip |
A |
T |
11: 59,648,547 (GRCm39) |
R750S |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,335,691 (GRCm39) |
V1436M |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,344,406 (GRCm39) |
R69* |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,410,449 (GRCm39) |
Y1274F |
unknown |
Het |
| Mybpc1 |
A |
G |
10: 88,378,318 (GRCm39) |
L674P |
probably damaging |
Het |
| Mypn |
A |
G |
10: 62,966,802 (GRCm39) |
V958A |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,326,302 (GRCm39) |
T2436A |
probably benign |
Het |
| Or7g20 |
A |
G |
9: 18,946,443 (GRCm39) |
D8G |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,826 (GRCm39) |
L402Q |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,171,053 (GRCm39) |
|
probably null |
Het |
| Rp1 |
A |
G |
1: 4,418,685 (GRCm39) |
L809P |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,325,125 (GRCm39) |
|
probably benign |
Het |
| Sdf2 |
A |
T |
11: 78,136,906 (GRCm39) |
M29L |
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,100,350 (GRCm39) |
L311V |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,523,634 (GRCm39) |
Y349* |
probably null |
Het |
| Spidr |
A |
C |
16: 15,932,733 (GRCm39) |
C182W |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,261,999 (GRCm39) |
S146R |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,581,307 (GRCm39) |
V145A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 59,019,175 (GRCm39) |
|
probably null |
Het |
| Tcp11l2 |
T |
A |
10: 84,430,661 (GRCm39) |
|
probably benign |
Het |
| Tfdp2 |
C |
T |
9: 96,199,627 (GRCm39) |
P74S |
unknown |
Het |
| Tmprss15 |
C |
T |
16: 78,854,547 (GRCm39) |
R287H |
probably benign |
Het |
| Trav10d |
T |
C |
14: 53,048,779 (GRCm39) |
Y57H |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,733 (GRCm39) |
I846T |
probably benign |
Het |
| Ywhah |
T |
A |
5: 33,184,292 (GRCm39) |
M165K |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,703,293 (GRCm39) |
P72T |
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 |
|
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 |
|
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'- TCTGAAACTCTAGCAACGTCAGC -3'
(R):5'- TTCTCGGAGATGAGCTGGTC -3'
Sequencing Primer
(F):5'- TGCCCAAGAGCAAACTTTCTGAG -3'
(R):5'- TCGAAGAGCAGGTGAATCTCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation