Incidental Mutation 'R9057:Heatr5a'
| ID |
688765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr5a
|
| Ensembl Gene |
ENSMUSG00000035181 |
| Gene Name |
HEAT repeat containing 5A |
| Synonyms |
D930036F22Rik |
| MMRRC Submission |
068883-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R9057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51986420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 598
(E598K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
| AlphaFold |
Q5PRF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040583
AA Change: E598K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: E598K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
SCOP:d1qbkb_
|
112 |
658 |
6e-13 |
SMART |
|
low complexity region
|
1063 |
1078 |
N/A |
INTRINSIC |
|
low complexity region
|
1081 |
1095 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1135 |
N/A |
INTRINSIC |
|
low complexity region
|
1496 |
1507 |
N/A |
INTRINSIC |
|
low complexity region
|
1722 |
1735 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1936 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,524,782 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
G |
A |
2: 25,331,584 (GRCm39) |
D1324N |
probably benign |
Het |
| Acat1 |
C |
T |
9: 53,503,300 (GRCm39) |
G180R |
probably damaging |
Het |
| AI837181 |
A |
C |
19: 5,476,730 (GRCm39) |
T298P |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,586,814 (GRCm39) |
D556E |
unknown |
Het |
| Ankle1 |
T |
A |
8: 71,858,961 (GRCm39) |
W65R |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,203,654 (GRCm39) |
N234S |
probably benign |
Het |
| Asb7 |
T |
A |
7: 66,309,395 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,068,102 (GRCm39) |
C1033* |
probably null |
Het |
| B4galnt1 |
A |
G |
10: 127,006,999 (GRCm39) |
D452G |
probably damaging |
Het |
| B4gat1 |
G |
T |
19: 5,089,056 (GRCm39) |
A18S |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,069,807 (GRCm39) |
Y724H |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,112,306 (GRCm39) |
M1383K |
possibly damaging |
Het |
| Cenpt |
C |
A |
8: 106,576,405 (GRCm39) |
*43L |
probably null |
Het |
| Ces2f |
C |
A |
8: 105,674,744 (GRCm39) |
H49N |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,637,522 (GRCm39) |
D1245E |
probably damaging |
Het |
| Col19a1 |
G |
T |
1: 24,549,962 (GRCm39) |
H312N |
unknown |
Het |
| Cyb5d2 |
C |
T |
11: 72,679,924 (GRCm39) |
E124K |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,391,014 (GRCm39) |
A3291V |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,779,186 (GRCm39) |
D226E |
probably damaging |
Het |
| Ggt6 |
C |
T |
11: 72,328,067 (GRCm39) |
T189M |
probably damaging |
Het |
| Gm5592 |
C |
A |
7: 40,938,887 (GRCm39) |
S723Y |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,332,465 (GRCm39) |
T133M |
probably damaging |
Het |
| Hfe |
T |
A |
13: 23,889,658 (GRCm39) |
I330F |
possibly damaging |
Het |
| Htt |
A |
G |
5: 35,009,454 (GRCm39) |
I1478M |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 67,833,186 (GRCm39) |
F449L |
probably damaging |
Het |
| Ints4 |
T |
C |
7: 97,158,987 (GRCm39) |
V453A |
possibly damaging |
Het |
| Ints6 |
A |
G |
14: 62,951,740 (GRCm39) |
|
probably null |
Het |
| Klrh1 |
T |
A |
6: 129,752,803 (GRCm39) |
M1L |
probably benign |
Het |
| Kpna4 |
G |
A |
3: 69,002,018 (GRCm39) |
T248M |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,874,977 (GRCm39) |
I372V |
possibly damaging |
Het |
| Mib1 |
T |
A |
18: 10,795,728 (GRCm39) |
D696E |
possibly damaging |
Het |
| Mpzl3 |
G |
A |
9: 44,979,592 (GRCm39) |
R181Q |
probably damaging |
Het |
| Mup12 |
A |
T |
4: 60,696,779 (GRCm39) |
I33N |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,656,011 (GRCm39) |
I502V |
possibly damaging |
Het |
| Nacad |
C |
A |
11: 6,550,876 (GRCm39) |
V772F |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,456,218 (GRCm39) |
T2417N |
probably benign |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Or2ag17 |
A |
T |
7: 106,389,296 (GRCm39) |
V304D |
probably damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,148 (GRCm39) |
E68G |
probably damaging |
Het |
| Pan2 |
A |
T |
10: 128,156,141 (GRCm39) |
H1133L |
probably damaging |
Het |
| Pgk2 |
A |
G |
17: 40,518,735 (GRCm39) |
V231A |
possibly damaging |
Het |
| Psmd12 |
G |
A |
11: 107,377,328 (GRCm39) |
R129Q |
probably null |
Het |
| Rpl23a |
G |
A |
11: 78,072,021 (GRCm39) |
R139C |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,446,246 (GRCm39) |
Q158H |
|
Het |
| Scd3 |
C |
T |
19: 44,224,340 (GRCm39) |
P191L |
probably damaging |
Het |
| Serac1 |
C |
A |
17: 6,111,890 (GRCm39) |
S262I |
probably damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,794,209 (GRCm39) |
T526A |
probably benign |
Het |
| Slc26a3 |
A |
T |
12: 31,520,958 (GRCm39) |
T721S |
probably benign |
Het |
| Slc8a1 |
A |
C |
17: 81,955,479 (GRCm39) |
S520A |
probably benign |
Het |
| Sp9 |
A |
T |
2: 73,103,613 (GRCm39) |
S56C |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,095,547 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,937,167 (GRCm39) |
L255R |
probably damaging |
Het |
| Tcp11l1 |
A |
G |
2: 104,528,026 (GRCm39) |
I156T |
probably damaging |
Het |
| Tnrc6b |
G |
A |
15: 80,763,349 (GRCm39) |
A284T |
probably benign |
Het |
| Trappc14 |
A |
T |
5: 138,260,949 (GRCm39) |
V232E |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,575,874 (GRCm39) |
L919H |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,828,209 (GRCm39) |
H1454Q |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,027,702 (GRCm39) |
D537E |
probably benign |
Het |
| Wnt16 |
T |
A |
6: 22,288,823 (GRCm39) |
C47S |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,310,027 (GRCm39) |
E840K |
possibly damaging |
Het |
| Zfp61 |
A |
T |
7: 23,990,702 (GRCm39) |
V483E |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,793 (GRCm39) |
S179T |
probably benign |
Het |
|
| Other mutations in Heatr5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Heatr5a
|
APN |
12 |
51,935,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01397:Heatr5a
|
APN |
12 |
51,941,152 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01481:Heatr5a
|
APN |
12 |
52,002,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01684:Heatr5a
|
APN |
12 |
52,002,294 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01766:Heatr5a
|
APN |
12 |
51,936,447 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01799:Heatr5a
|
APN |
12 |
51,944,618 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02007:Heatr5a
|
APN |
12 |
51,962,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02093:Heatr5a
|
APN |
12 |
51,962,858 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02205:Heatr5a
|
APN |
12 |
51,924,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Heatr5a
|
APN |
12 |
51,992,213 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02565:Heatr5a
|
APN |
12 |
51,997,882 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02707:Heatr5a
|
APN |
12 |
51,968,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02735:Heatr5a
|
APN |
12 |
51,961,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03160:Heatr5a
|
APN |
12 |
51,931,279 (GRCm39) |
splice site |
probably benign |
|
|
F5770:Heatr5a
|
UTSW |
12 |
51,928,061 (GRCm39) |
splice site |
probably benign |
|
|
R0034:Heatr5a
|
UTSW |
12 |
51,971,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Heatr5a
|
UTSW |
12 |
51,972,188 (GRCm39) |
missense |
probably benign |
|
|
R0184:Heatr5a
|
UTSW |
12 |
51,956,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Heatr5a
|
UTSW |
12 |
51,935,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0567:Heatr5a
|
UTSW |
12 |
51,956,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Heatr5a
|
UTSW |
12 |
51,956,884 (GRCm39) |
splice site |
probably benign |
|
|
R0736:Heatr5a
|
UTSW |
12 |
51,943,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1532:Heatr5a
|
UTSW |
12 |
51,999,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1914:Heatr5a
|
UTSW |
12 |
51,952,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Heatr5a
|
UTSW |
12 |
51,992,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1978:Heatr5a
|
UTSW |
12 |
51,986,441 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2044:Heatr5a
|
UTSW |
12 |
52,002,186 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2263:Heatr5a
|
UTSW |
12 |
51,962,933 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2265:Heatr5a
|
UTSW |
12 |
51,940,528 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2267:Heatr5a
|
UTSW |
12 |
51,940,528 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2268:Heatr5a
|
UTSW |
12 |
51,940,528 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2269:Heatr5a
|
UTSW |
12 |
51,940,528 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2842:Heatr5a
|
UTSW |
12 |
52,002,260 (GRCm39) |
splice site |
probably null |
|
|
R2842:Heatr5a
|
UTSW |
12 |
52,002,261 (GRCm39) |
missense |
probably null |
1.00 |
|
R3033:Heatr5a
|
UTSW |
12 |
51,997,821 (GRCm39) |
nonsense |
probably null |
|
|
R4303:Heatr5a
|
UTSW |
12 |
52,003,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4675:Heatr5a
|
UTSW |
12 |
51,924,130 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4718:Heatr5a
|
UTSW |
12 |
51,962,946 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4807:Heatr5a
|
UTSW |
12 |
51,924,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Heatr5a
|
UTSW |
12 |
52,003,020 (GRCm39) |
nonsense |
probably null |
|
|
R5229:Heatr5a
|
UTSW |
12 |
51,994,761 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5411:Heatr5a
|
UTSW |
12 |
51,935,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Heatr5a
|
UTSW |
12 |
52,005,734 (GRCm39) |
nonsense |
probably null |
|
|
R5603:Heatr5a
|
UTSW |
12 |
51,924,358 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5631:Heatr5a
|
UTSW |
12 |
52,002,310 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5742:Heatr5a
|
UTSW |
12 |
52,002,335 (GRCm39) |
nonsense |
probably null |
|
|
R5969:Heatr5a
|
UTSW |
12 |
52,005,823 (GRCm39) |
missense |
probably benign |
|
|
R6020:Heatr5a
|
UTSW |
12 |
51,931,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6234:Heatr5a
|
UTSW |
12 |
51,924,237 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6352:Heatr5a
|
UTSW |
12 |
51,997,949 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6798:Heatr5a
|
UTSW |
12 |
51,928,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6815:Heatr5a
|
UTSW |
12 |
52,002,291 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7059:Heatr5a
|
UTSW |
12 |
51,935,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7143:Heatr5a
|
UTSW |
12 |
52,008,251 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7178:Heatr5a
|
UTSW |
12 |
51,971,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7291:Heatr5a
|
UTSW |
12 |
51,972,122 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7454:Heatr5a
|
UTSW |
12 |
52,008,326 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7511:Heatr5a
|
UTSW |
12 |
51,926,217 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7636:Heatr5a
|
UTSW |
12 |
51,999,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7636:Heatr5a
|
UTSW |
12 |
51,934,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Heatr5a
|
UTSW |
12 |
52,008,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8088:Heatr5a
|
UTSW |
12 |
51,994,779 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8205:Heatr5a
|
UTSW |
12 |
52,005,792 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8212:Heatr5a
|
UTSW |
12 |
51,946,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8213:Heatr5a
|
UTSW |
12 |
51,938,226 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8323:Heatr5a
|
UTSW |
12 |
52,002,289 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8326:Heatr5a
|
UTSW |
12 |
51,934,702 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8339:Heatr5a
|
UTSW |
12 |
51,934,702 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8395:Heatr5a
|
UTSW |
12 |
51,962,961 (GRCm39) |
missense |
|
|
|
R8410:Heatr5a
|
UTSW |
12 |
51,984,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8676:Heatr5a
|
UTSW |
12 |
51,934,702 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8834:Heatr5a
|
UTSW |
12 |
51,956,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8916:Heatr5a
|
UTSW |
12 |
51,934,702 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9248:Heatr5a
|
UTSW |
12 |
51,963,026 (GRCm39) |
missense |
|
|
|
R9287:Heatr5a
|
UTSW |
12 |
51,967,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9332:Heatr5a
|
UTSW |
12 |
51,946,068 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9454:Heatr5a
|
UTSW |
12 |
51,934,702 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9515:Heatr5a
|
UTSW |
12 |
51,934,702 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9654:Heatr5a
|
UTSW |
12 |
52,005,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Heatr5a
|
UTSW |
12 |
51,952,107 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1088:Heatr5a
|
UTSW |
12 |
51,997,859 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1088:Heatr5a
|
UTSW |
12 |
51,938,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAACACCAGCCAGATTC -3'
(R):5'- CTGGGCTGCAACACTTAATAACC -3'
Sequencing Primer
(F):5'- AGATTCCTGTCCCCTTACACTAAATG -3'
(R):5'- CCAGAAGATACAAAACATTGGAGTTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation