Incidental Mutation 'R6400:Heatr4'
| ID |
516138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr4
|
| Ensembl Gene |
ENSMUSG00000090843 |
| Gene Name |
HEAT repeat containing 4 |
| Synonyms |
Gm17673 |
| MMRRC Submission |
044547-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6400 (G1)
|
| Quality Score |
106.008 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84001273-84031626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84001784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 887
(K887M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053744]
[ENSMUST00000164935]
|
| AlphaFold |
E9Q357 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053744
|
| SMART Domains |
Protein: ENSMUSP00000057984
Gene: ENSMUSG00000046791
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
65 |
N/A |
INTRINSIC |
|
JmjC
|
266 |
394 |
5.07e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164935
AA Change: K887M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843
AA Change: K887M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
548 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
577 |
711 |
2.78e-6 |
PROSPERO |
|
Pfam:HEAT_2
|
776 |
890 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181399
|
| SMART Domains |
Protein: ENSMUSP00000137697
Gene: ENSMUSG00000096953
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223215
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,638,435 (GRCm39) |
*160Q |
probably null |
Het |
| Aen |
G |
A |
7: 78,557,142 (GRCm39) |
G330E |
probably benign |
Het |
| Akap8l |
G |
A |
17: 32,555,294 (GRCm39) |
R262C |
probably damaging |
Het |
| Cbx8 |
G |
A |
11: 118,929,694 (GRCm39) |
Q300* |
probably null |
Het |
| Cd274 |
C |
T |
19: 29,362,808 (GRCm39) |
T290M |
probably damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,721 (GRCm39) |
S127A |
probably damaging |
Het |
| Celf3 |
A |
G |
3: 94,387,593 (GRCm39) |
Y55C |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,412,316 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
T |
8: 125,277,045 (GRCm39) |
I684F |
probably damaging |
Het |
| Cyp2c65 |
C |
T |
19: 39,049,558 (GRCm39) |
L29F |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Dytn |
A |
T |
1: 63,680,335 (GRCm39) |
L408* |
probably null |
Het |
| Flg |
A |
G |
3: 93,187,228 (GRCm39) |
T227A |
probably benign |
Het |
| Hoxb1 |
C |
T |
11: 96,256,818 (GRCm39) |
Q56* |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,569,688 (GRCm39) |
N736I |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,478 (GRCm39) |
V120A |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,458,397 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,259 (GRCm39) |
S999T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,155,332 (GRCm39) |
F1171L |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,402 (GRCm39) |
S1783P |
unknown |
Het |
| Nbr1 |
T |
C |
11: 101,456,600 (GRCm39) |
L159P |
probably damaging |
Het |
| Nme9 |
T |
C |
9: 99,351,760 (GRCm39) |
F248S |
possibly damaging |
Het |
| Or4x11 |
C |
T |
2: 89,867,739 (GRCm39) |
L159F |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,830 (GRCm39) |
S164P |
probably damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,683 (GRCm39) |
T664I |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,020,286 (GRCm39) |
D91G |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,080,157 (GRCm39) |
R514G |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,049,169 (GRCm39) |
G3446V |
probably damaging |
Het |
| Tcte2 |
T |
A |
17: 13,942,714 (GRCm39) |
|
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,308,562 (GRCm39) |
K239E |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,322 (GRCm39) |
S189T |
probably benign |
Het |
|
| Other mutations in Heatr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1070:Heatr4
|
UTSW |
12 |
84,024,841 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1225:Heatr4
|
UTSW |
12 |
84,024,820 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1398:Heatr4
|
UTSW |
12 |
84,014,395 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1467:Heatr4
|
UTSW |
12 |
84,024,841 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1467:Heatr4
|
UTSW |
12 |
84,024,841 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1626:Heatr4
|
UTSW |
12 |
84,020,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Heatr4
|
UTSW |
12 |
84,014,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1779:Heatr4
|
UTSW |
12 |
84,026,934 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1784:Heatr4
|
UTSW |
12 |
84,014,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1860:Heatr4
|
UTSW |
12 |
84,026,502 (GRCm39) |
nonsense |
probably null |
|
|
R1903:Heatr4
|
UTSW |
12 |
84,005,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Heatr4
|
UTSW |
12 |
84,002,591 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1972:Heatr4
|
UTSW |
12 |
84,001,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Heatr4
|
UTSW |
12 |
84,026,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2081:Heatr4
|
UTSW |
12 |
84,027,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2093:Heatr4
|
UTSW |
12 |
84,021,855 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2399:Heatr4
|
UTSW |
12 |
84,027,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2680:Heatr4
|
UTSW |
12 |
84,027,237 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4618:Heatr4
|
UTSW |
12 |
84,024,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:Heatr4
|
UTSW |
12 |
84,026,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6616:Heatr4
|
UTSW |
12 |
84,026,904 (GRCm39) |
missense |
probably benign |
|
|
R6815:Heatr4
|
UTSW |
12 |
84,026,501 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7070:Heatr4
|
UTSW |
12 |
84,016,632 (GRCm39) |
missense |
probably benign |
|
|
R7219:Heatr4
|
UTSW |
12 |
84,004,644 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7329:Heatr4
|
UTSW |
12 |
84,024,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7477:Heatr4
|
UTSW |
12 |
84,026,604 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7570:Heatr4
|
UTSW |
12 |
84,026,418 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7709:Heatr4
|
UTSW |
12 |
84,004,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8280:Heatr4
|
UTSW |
12 |
84,016,670 (GRCm39) |
missense |
probably benign |
|
|
R8423:Heatr4
|
UTSW |
12 |
84,027,104 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8465:Heatr4
|
UTSW |
12 |
84,024,707 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8515:Heatr4
|
UTSW |
12 |
84,001,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Heatr4
|
UTSW |
12 |
84,027,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Heatr4
|
UTSW |
12 |
84,001,431 (GRCm39) |
missense |
probably benign |
|
|
R9585:Heatr4
|
UTSW |
12 |
84,014,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9717:Heatr4
|
UTSW |
12 |
84,024,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Heatr4
|
UTSW |
12 |
84,027,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTTGGATCTACGGGAAAAG -3'
(R):5'- ATGTGTGAAGTTTAGGATTCTCGCC -3'
Sequencing Primer
(F):5'- CAGGCCAAGCATGTATTACTTGC -3'
(R):5'- GAAGTTTAGGATTCTCGCCTAATTCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation