Incidental Mutation 'R1914:Heatr5a'
ID |
214708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr5a
|
Ensembl Gene |
ENSMUSG00000035181 |
Gene Name |
HEAT repeat containing 5A |
Synonyms |
D930036F22Rik |
MMRRC Submission |
039932-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R1914 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 51952250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 1130
(A1130E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
AlphaFold |
Q5PRF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040583
AA Change: A1130E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043115 Gene: ENSMUSG00000035181 AA Change: A1130E
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000217966
AA Change: A233E
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220369
|
Meta Mutation Damage Score |
0.1416 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.6%
|
Validation Efficiency |
99% (90/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,622,386 (GRCm39) |
V618E |
possibly damaging |
Het |
Abca6 |
T |
C |
11: 110,103,036 (GRCm39) |
R852G |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,306,685 (GRCm39) |
R1165H |
probably benign |
Het |
Asxl1 |
T |
C |
2: 153,243,826 (GRCm39) |
S1459P |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,176,225 (GRCm39) |
R1957C |
probably damaging |
Het |
Bcar1 |
A |
G |
8: 112,442,030 (GRCm39) |
V270A |
probably damaging |
Het |
Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
Capn15 |
C |
A |
17: 26,183,837 (GRCm39) |
A215S |
probably benign |
Het |
Casz1 |
T |
C |
4: 149,017,415 (GRCm39) |
F235L |
probably damaging |
Het |
Ccdc57 |
A |
T |
11: 120,794,134 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,159,349 (GRCm39) |
V2142A |
probably damaging |
Het |
Cdx1 |
A |
G |
18: 61,152,970 (GRCm39) |
V212A |
probably benign |
Het |
Cep104 |
T |
C |
4: 154,074,296 (GRCm39) |
L516P |
possibly damaging |
Het |
Cep95 |
C |
T |
11: 106,705,464 (GRCm39) |
T483I |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,389,329 (GRCm39) |
|
probably benign |
Het |
Chia1 |
T |
A |
3: 106,035,875 (GRCm39) |
N238K |
probably benign |
Het |
Cntrl |
T |
C |
2: 35,052,873 (GRCm39) |
M1126T |
probably benign |
Het |
Col28a1 |
A |
G |
6: 8,176,333 (GRCm39) |
F8S |
probably benign |
Het |
Cpeb3 |
C |
T |
19: 37,031,665 (GRCm39) |
R579Q |
probably damaging |
Het |
Dbh |
A |
G |
2: 27,058,234 (GRCm39) |
D134G |
probably damaging |
Het |
Diaph3 |
A |
C |
14: 86,893,921 (GRCm39) |
N29K |
probably damaging |
Het |
Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
Ephb1 |
C |
T |
9: 101,806,577 (GRCm39) |
C819Y |
probably damaging |
Het |
Eps8l2 |
G |
A |
7: 140,941,765 (GRCm39) |
V650M |
probably damaging |
Het |
Erlin1 |
T |
C |
19: 44,047,504 (GRCm39) |
Y139C |
probably damaging |
Het |
Fezf2 |
A |
T |
14: 12,343,988 (GRCm38) |
V301E |
probably damaging |
Het |
Fnbp4 |
T |
C |
2: 90,609,537 (GRCm39) |
|
probably benign |
Het |
Gal3st4 |
T |
A |
5: 138,263,672 (GRCm39) |
K442N |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,527,152 (GRCm39) |
T199A |
probably benign |
Het |
Gm10644 |
G |
A |
8: 84,660,479 (GRCm39) |
|
probably benign |
Het |
Gpr88 |
G |
T |
3: 116,046,073 (GRCm39) |
S79R |
possibly damaging |
Het |
Grm4 |
A |
T |
17: 27,653,686 (GRCm39) |
C755S |
probably damaging |
Het |
Hdgfl2 |
A |
G |
17: 56,403,978 (GRCm39) |
D278G |
probably damaging |
Het |
Heatr9 |
T |
G |
11: 83,409,035 (GRCm39) |
I171L |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,460,357 (GRCm39) |
T2209A |
probably benign |
Het |
Hsh2d |
A |
G |
8: 72,947,365 (GRCm39) |
T21A |
probably damaging |
Het |
Ing1 |
T |
A |
8: 11,611,577 (GRCm39) |
V63E |
probably damaging |
Het |
Irf4 |
A |
T |
13: 30,945,445 (GRCm39) |
Q397L |
probably benign |
Het |
Itgae |
T |
A |
11: 73,009,469 (GRCm39) |
|
probably benign |
Het |
Jrkl |
A |
T |
9: 13,245,609 (GRCm39) |
D17E |
possibly damaging |
Het |
Kcnh6 |
T |
A |
11: 105,908,270 (GRCm39) |
Y295* |
probably null |
Het |
Klf5 |
T |
C |
14: 99,539,357 (GRCm39) |
S177P |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,586,221 (GRCm39) |
|
probably benign |
Het |
Lilrb4a |
A |
G |
10: 51,368,045 (GRCm39) |
I53M |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,810,007 (GRCm39) |
Y348N |
probably damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Med25 |
A |
G |
7: 44,534,046 (GRCm39) |
S245P |
probably benign |
Het |
Mlh3 |
T |
C |
12: 85,308,442 (GRCm39) |
Y1115C |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myh10 |
T |
C |
11: 68,681,034 (GRCm39) |
L1025P |
probably damaging |
Het |
Myof |
T |
A |
19: 37,966,141 (GRCm39) |
N393I |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,435,936 (GRCm39) |
E862D |
probably benign |
Het |
Ncald |
C |
T |
15: 37,397,324 (GRCm39) |
A119T |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,373,114 (GRCm39) |
E1044G |
possibly damaging |
Het |
Nyap2 |
T |
C |
1: 81,169,602 (GRCm39) |
S120P |
probably damaging |
Het |
Oas1a |
A |
T |
5: 121,043,876 (GRCm39) |
N85K |
possibly damaging |
Het |
Or8b12i |
T |
C |
9: 20,082,324 (GRCm39) |
Y181C |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,578,133 (GRCm39) |
D1721E |
probably damaging |
Het |
Pcid2 |
A |
T |
8: 13,144,141 (GRCm39) |
|
probably null |
Het |
Pou2f2 |
C |
T |
7: 24,799,581 (GRCm39) |
A92T |
possibly damaging |
Het |
Ppp1r16a |
T |
C |
15: 76,577,268 (GRCm39) |
L212P |
probably damaging |
Het |
Ptbp3 |
A |
T |
4: 59,517,635 (GRCm39) |
L84Q |
probably damaging |
Het |
Ptgr2 |
A |
T |
12: 84,349,096 (GRCm39) |
Q145L |
probably benign |
Het |
Pudp |
T |
C |
18: 50,701,278 (GRCm39) |
N152D |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,958,646 (GRCm39) |
F62L |
possibly damaging |
Het |
Rasal3 |
G |
A |
17: 32,615,324 (GRCm39) |
Q505* |
probably null |
Het |
Rbm20 |
T |
A |
19: 53,852,518 (GRCm39) |
L1166Q |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,789,053 (GRCm39) |
I223R |
probably damaging |
Het |
Ripor1 |
A |
T |
8: 106,343,518 (GRCm39) |
E270D |
probably damaging |
Het |
Rorc |
T |
C |
3: 94,298,480 (GRCm39) |
C322R |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,959,552 (GRCm39) |
D1116G |
probably benign |
Het |
Rsph4a |
A |
T |
10: 33,789,068 (GRCm39) |
N638Y |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,396,594 (GRCm39) |
F100L |
probably damaging |
Het |
Siglece |
A |
G |
7: 43,307,219 (GRCm39) |
V256A |
probably benign |
Het |
Slc23a2 |
A |
T |
2: 131,898,686 (GRCm39) |
L617Q |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,978,531 (GRCm39) |
I567T |
possibly damaging |
Het |
Sptan1 |
C |
G |
2: 29,901,048 (GRCm39) |
Q1425E |
probably benign |
Het |
Srd5a3 |
G |
A |
5: 76,295,552 (GRCm39) |
V81I |
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,706,310 (GRCm39) |
I790K |
probably damaging |
Het |
Syde2 |
T |
G |
3: 145,720,071 (GRCm39) |
Y764* |
probably null |
Het |
Tbl1xr1 |
T |
C |
3: 22,245,074 (GRCm39) |
|
probably benign |
Het |
Tmem130 |
A |
G |
5: 144,674,666 (GRCm39) |
F353S |
probably damaging |
Het |
Tmem131 |
T |
A |
1: 36,835,347 (GRCm39) |
K1591N |
probably damaging |
Het |
Trim43c |
T |
A |
9: 88,722,670 (GRCm39) |
D105E |
probably benign |
Het |
Urb2 |
C |
A |
8: 124,756,537 (GRCm39) |
T748K |
possibly damaging |
Het |
Vmn2r18 |
T |
C |
5: 151,499,286 (GRCm39) |
N393D |
probably benign |
Het |
Zfp292 |
G |
A |
4: 34,805,100 (GRCm39) |
S2648F |
possibly 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 |
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 |
|
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'- AGTTGTCAGGGAGCCATTTCC -3'
(R):5'- CAACTTCAGTAGATAGGGCACAGTATC -3'
Sequencing Primer
(F):5'- GTCAGGGAGCCATTTCCTACTAG -3'
(R):5'- TAGATAGGGCACAGTATCTCAGCTC -3'
|
Posted On |
2014-07-14 |