Incidental Mutation 'R1070:Heatr4'
| ID |
86176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr4
|
| Ensembl Gene |
ENSMUSG00000090843 |
| Gene Name |
HEAT repeat containing 4 |
| Synonyms |
Gm17673 |
| MMRRC Submission |
039156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R1070 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84001273-84031626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84024841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 327
(T327A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164935]
|
| AlphaFold |
E9Q357 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164935
AA Change: T327A
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843
AA Change: T327A
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,263 (GRCm39) |
D1367G |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,053,491 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,912 (GRCm39) |
N231K |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,517,009 (GRCm39) |
S517P |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,101 (GRCm39) |
I235T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,610 (GRCm39) |
A255V |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,187,382 (GRCm39) |
I11M |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,664,413 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 188,988,960 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
A |
4: 74,291,865 (GRCm39) |
Y827* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,275 (GRCm39) |
T220A |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,112,949 (GRCm39) |
E149G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,908,801 (GRCm39) |
D333G |
probably benign |
Het |
| Net1 |
A |
T |
13: 3,962,930 (GRCm39) |
S45T |
probably benign |
Het |
| Npat |
T |
A |
9: 53,483,892 (GRCm39) |
F1403I |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,182 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,858 (GRCm39) |
D49G |
probably benign |
Het |
| Or7a35 |
C |
T |
10: 78,853,684 (GRCm39) |
P176L |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,390,052 (GRCm39) |
|
probably null |
Het |
| Rab3a |
A |
G |
8: 71,209,840 (GRCm39) |
N40S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,614,660 (GRCm39) |
N74D |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,848 (GRCm39) |
V239F |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,698,547 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Sult2a8 |
T |
A |
7: 14,147,698 (GRCm39) |
I198F |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,904,552 (GRCm39) |
V732M |
possibly damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,681 (GRCm39) |
Y458H |
probably damaging |
Het |
|
| Other mutations in Heatr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6400:Heatr4
|
UTSW |
12 |
84,001,784 (GRCm39) |
missense |
probably null |
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'- CAGCTATTCTTGTCCCAAGATGCCC -3'
(R):5'- AGGTTCTCCCAGTGGCTCCATATTC -3'
Sequencing Primer
(F):5'- AAGATGCCCTCGTTTCCTCAG -3'
(R):5'- GGCTCCATATTCAGATGGCAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation