Incidental Mutation 'R8088:Heatr5a'
| ID |
629806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr5a
|
| Ensembl Gene |
ENSMUSG00000035181 |
| Gene Name |
HEAT repeat containing 5A |
| Synonyms |
D930036F22Rik |
| MMRRC Submission |
067521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R8088 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51994779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 451
(D451G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
| AlphaFold |
Q5PRF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040583
AA Change: D451G
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: D451G
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c1 |
A |
T |
9: 105,329,768 (GRCm39) |
|
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
G |
T |
10: 41,499,410 (GRCm39) |
H1066Q |
possibly damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,492 (GRCm39) |
S64P |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,215,802 (GRCm39) |
M453V |
probably benign |
Het |
| Defb12 |
T |
C |
8: 19,162,837 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
C |
A |
1: 153,338,443 (GRCm39) |
V738L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,831,330 (GRCm39) |
N843S |
probably benign |
Het |
| Dspp |
A |
G |
5: 104,325,122 (GRCm39) |
D495G |
unknown |
Het |
| Dus2 |
A |
G |
8: 106,757,073 (GRCm39) |
M88V |
probably benign |
Het |
| Dusp13b |
A |
G |
14: 21,791,305 (GRCm39) |
V49A |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,889,072 (GRCm39) |
I4163L |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Entpd3 |
A |
C |
9: 120,383,239 (GRCm39) |
R91S |
probably benign |
Het |
| Fam83c |
C |
A |
2: 155,673,559 (GRCm39) |
V210F |
probably damaging |
Het |
| Flot1 |
G |
A |
17: 36,140,870 (GRCm39) |
A287T |
probably damaging |
Het |
| Gm19410 |
A |
G |
8: 36,273,995 (GRCm39) |
K1412E |
probably benign |
Het |
| Gsn |
G |
A |
2: 35,182,659 (GRCm39) |
V241M |
possibly damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,316,915 (GRCm39) |
W3831* |
probably null |
Het |
| Il3 |
A |
G |
11: 54,156,375 (GRCm39) |
V119A |
probably benign |
Het |
| Jam3 |
T |
C |
9: 27,010,156 (GRCm39) |
K276R |
probably benign |
Het |
| Kcnt1 |
G |
A |
2: 25,784,326 (GRCm39) |
G277D |
possibly damaging |
Het |
| Kif28 |
T |
A |
1: 179,527,919 (GRCm39) |
D744V |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Loxhd1 |
T |
C |
18: 77,429,709 (GRCm39) |
I535T |
possibly damaging |
Het |
| Lzts1 |
A |
C |
8: 69,588,474 (GRCm39) |
L494R |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,042,795 (GRCm39) |
V347A |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,729,370 (GRCm39) |
E270G |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,929,985 (GRCm39) |
I24F |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,430,596 (GRCm39) |
Y8102* |
probably null |
Het |
| Myh14 |
A |
T |
7: 44,314,920 (GRCm39) |
M1K |
probably null |
Het |
| Myo18b |
T |
A |
5: 113,027,376 (GRCm39) |
|
probably benign |
Het |
| Neurl1a |
C |
A |
19: 47,245,873 (GRCm39) |
P502T |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,194,997 (GRCm39) |
W484* |
probably null |
Het |
| Or2y3 |
T |
A |
17: 38,393,452 (GRCm39) |
H139L |
possibly damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,602 (GRCm39) |
I104N |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,224,807 (GRCm39) |
V540A |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,870,007 (GRCm39) |
|
probably benign |
Het |
| Pm20d1 |
A |
C |
1: 131,729,501 (GRCm39) |
N176T |
probably benign |
Het |
| Pnldc1 |
T |
C |
17: 13,116,189 (GRCm39) |
D271G |
probably damaging |
Het |
| Pold3 |
A |
G |
7: 99,761,508 (GRCm39) |
V63A |
probably damaging |
Het |
| Rbm18 |
A |
C |
2: 36,017,196 (GRCm39) |
S61A |
probably benign |
Het |
| Rdh14 |
T |
C |
12: 10,444,551 (GRCm39) |
L134P |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rtel1 |
A |
G |
2: 180,964,138 (GRCm39) |
T46A |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,412,363 (GRCm39) |
I823V |
probably damaging |
Het |
| S1pr1 |
A |
G |
3: 115,505,683 (GRCm39) |
S304P |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,692,024 (GRCm39) |
V86A |
probably benign |
Het |
| Scgb1a1 |
C |
T |
19: 9,062,599 (GRCm39) |
V66M |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,526,721 (GRCm39) |
M46K |
|
Het |
| Sgsm1 |
A |
G |
5: 113,403,134 (GRCm39) |
M971T |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,864,951 (GRCm39) |
I419T |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,394,431 (GRCm39) |
T372S |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,229 (GRCm39) |
N53S |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,068,679 (GRCm39) |
Y276N |
probably benign |
Het |
| Sprr2k |
C |
T |
3: 92,340,796 (GRCm39) |
R49W |
unknown |
Het |
| Sspo |
G |
A |
6: 48,434,547 (GRCm39) |
C1013Y |
probably damaging |
Het |
| Ssr2 |
A |
G |
3: 88,487,190 (GRCm39) |
R2G |
possibly damaging |
Het |
| St18 |
C |
A |
1: 6,898,229 (GRCm39) |
T677K |
probably benign |
Het |
| Thap11 |
A |
T |
8: 106,582,527 (GRCm39) |
I179F |
probably damaging |
Het |
| Trf |
C |
A |
9: 103,089,130 (GRCm39) |
G586C |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,192,770 (GRCm39) |
N299S |
probably benign |
Het |
| Xrcc5 |
C |
A |
1: 72,351,595 (GRCm39) |
A55E |
probably damaging |
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 |
|
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 |
|
|
R9057:Heatr5a
|
UTSW |
12 |
51,986,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTCACTGAACCGAGCAAGG -3'
(R):5'- GCGATCTCTACGTTGAAAACC -3'
Sequencing Primer
(F):5'- GGCCGCCACAGCAGAAC -3'
(R):5'- GATCTCTACGTTGAAAACCAAAAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation