Incidental Mutation 'R1225:Heatr4'
| ID |
152875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr4
|
| Ensembl Gene |
ENSMUSG00000090843 |
| Gene Name |
HEAT repeat containing 4 |
| Synonyms |
Gm17673 |
| MMRRC Submission |
039294-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R1225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84001273-84031626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84024820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 334
(E334K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164935]
|
| AlphaFold |
E9Q357 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164935
AA Change: E334K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843
AA Change: E334K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
A |
1: 192,515,953 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,980,247 (GRCm39) |
D510E |
probably damaging |
Het |
| Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,676 (GRCm39) |
V1185A |
unknown |
Het |
| Atp2c2 |
C |
A |
8: 120,461,984 (GRCm39) |
Q286K |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,127,165 (GRCm39) |
E209G |
probably damaging |
Het |
| Bmp6 |
A |
G |
13: 38,530,257 (GRCm39) |
T117A |
probably benign |
Het |
| Cmip |
T |
C |
8: 118,172,110 (GRCm39) |
F394L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,238 (GRCm39) |
D330V |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,944,820 (GRCm39) |
S491R |
probably benign |
Het |
| Dedd |
G |
A |
1: 171,167,863 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
A |
G |
9: 64,818,957 (GRCm39) |
H1704R |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,657,866 (GRCm39) |
V1903I |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,761,886 (GRCm39) |
V3868A |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,076,709 (GRCm39) |
I674V |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,209,825 (GRCm39) |
N47D |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,512,822 (GRCm39) |
S53P |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,831 (GRCm39) |
L170F |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,871,239 (GRCm39) |
|
probably benign |
Het |
| Gm9742 |
T |
C |
13: 8,079,875 (GRCm39) |
|
noncoding transcript |
Het |
| Hoga1 |
T |
G |
19: 42,058,628 (GRCm39) |
V110G |
probably damaging |
Het |
| Ighv6-4 |
T |
A |
12: 114,370,170 (GRCm39) |
D75V |
probably damaging |
Het |
| Inhca |
A |
T |
9: 103,132,038 (GRCm39) |
|
probably benign |
Het |
| Med15 |
G |
T |
16: 17,540,652 (GRCm39) |
S31R |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,461,954 (GRCm39) |
E1467G |
probably damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,731 (GRCm39) |
D52E |
probably benign |
Het |
| Or2t6 |
T |
A |
14: 14,175,600 (GRCm38) |
I161F |
possibly damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,587 (GRCm39) |
T148A |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,285,062 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
T |
13: 110,086,755 (GRCm39) |
M610L |
probably benign |
Het |
| Prickle4 |
T |
G |
17: 47,999,614 (GRCm39) |
|
probably null |
Het |
| Sema3g |
A |
G |
14: 30,942,636 (GRCm39) |
Y79C |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 78,901,423 (GRCm39) |
D748V |
probably damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,914,125 (GRCm39) |
V266E |
probably benign |
Het |
| Slc9a8 |
T |
C |
2: 167,313,443 (GRCm39) |
I435T |
probably benign |
Het |
| Snx29 |
T |
C |
16: 11,238,550 (GRCm39) |
|
probably benign |
Het |
| Son |
C |
T |
16: 91,454,228 (GRCm39) |
R992C |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,688,135 (GRCm39) |
N389D |
possibly damaging |
Het |
| Vmn1r28 |
C |
T |
6: 58,242,951 (GRCm39) |
Q265* |
probably null |
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 |
|
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 |
2014-01-29 |
Incidental Mutation