Incidental Mutation 'R7665:Heatr5a'
ID |
591880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr5a
|
Ensembl Gene |
ENSMUSG00000035181 |
Gene Name |
HEAT repeat containing 5A |
Synonyms |
D930036F22Rik |
MMRRC Submission |
045739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R7665 (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 A
at 52008313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 10
(N10I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
AlphaFold |
Q5PRF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040583
AA Change: N10I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043115 Gene: ENSMUSG00000035181 AA Change: N10I
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 |
|
Meta Mutation Damage Score |
0.6416 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519G04Rik |
A |
G |
5: 115,012,384 (GRCm39) |
|
probably null |
Het |
A830018L16Rik |
T |
C |
1: 12,042,323 (GRCm39) |
S448P |
probably damaging |
Het |
Abca4 |
C |
T |
3: 121,838,139 (GRCm39) |
|
probably benign |
Het |
Ackr2 |
A |
G |
9: 121,738,374 (GRCm39) |
M250V |
probably benign |
Het |
Actn4 |
A |
G |
7: 28,615,632 (GRCm39) |
I147T |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,647,261 (GRCm39) |
S3093N |
probably damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Brwd1 |
G |
A |
16: 95,842,543 (GRCm39) |
T798M |
probably benign |
Het |
Cdk13 |
G |
A |
13: 17,947,138 (GRCm39) |
T540I |
possibly damaging |
Het |
Cdkn1c |
A |
G |
7: 143,014,371 (GRCm39) |
V25A |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,874,581 (GRCm39) |
E1420G |
unknown |
Het |
Dbf4 |
G |
A |
5: 8,447,867 (GRCm39) |
P448S |
probably damaging |
Het |
Dnajb7 |
T |
C |
15: 81,291,620 (GRCm39) |
N239S |
probably benign |
Het |
Dnttip1 |
A |
G |
2: 164,596,061 (GRCm39) |
D102G |
probably damaging |
Het |
Dpp8 |
T |
A |
9: 64,986,000 (GRCm39) |
V830D |
probably damaging |
Het |
Eddm13 |
G |
A |
7: 6,272,891 (GRCm39) |
|
probably null |
Het |
Eef1g |
T |
C |
19: 8,945,653 (GRCm39) |
V29A |
probably benign |
Het |
Enpp2 |
T |
A |
15: 54,702,790 (GRCm39) |
Y906F |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 34,139,069 (GRCm39) |
L23P |
possibly damaging |
Het |
Exoc1 |
T |
A |
5: 76,691,420 (GRCm39) |
M248K |
probably benign |
Het |
Fam83b |
T |
C |
9: 76,398,157 (GRCm39) |
Y982C |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,943,327 (GRCm39) |
A740V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,812,149 (GRCm39) |
S2823T |
probably benign |
Het |
Gckr |
T |
C |
5: 31,454,899 (GRCm39) |
|
|
Het |
Gpr150 |
A |
T |
13: 76,204,093 (GRCm39) |
V284E |
probably damaging |
Het |
Grtp1 |
T |
G |
8: 13,227,103 (GRCm39) |
I344L |
probably benign |
Het |
Herc2 |
C |
A |
7: 55,802,903 (GRCm39) |
L2109I |
probably damaging |
Het |
Hs1bp3 |
T |
A |
12: 8,367,935 (GRCm39) |
D61E |
probably damaging |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,490,979 (GRCm39) |
F317L |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,638,491 (GRCm39) |
I764T |
unknown |
Het |
Med8 |
A |
C |
4: 118,268,853 (GRCm39) |
|
probably null |
Het |
Mpeg1 |
C |
A |
19: 12,440,458 (GRCm39) |
P639T |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,072,393 (GRCm39) |
Y562N |
probably damaging |
Het |
Nedd9 |
A |
G |
13: 41,469,785 (GRCm39) |
L456P |
probably benign |
Het |
Neo1 |
A |
G |
9: 58,833,078 (GRCm39) |
S556P |
probably damaging |
Het |
Nphp3 |
T |
A |
9: 103,882,592 (GRCm39) |
|
probably null |
Het |
Nup205 |
T |
C |
6: 35,154,555 (GRCm39) |
V53A |
possibly damaging |
Het |
Nvl |
A |
T |
1: 180,962,509 (GRCm39) |
S154T |
probably benign |
Het |
Or10h1 |
G |
T |
17: 33,418,603 (GRCm39) |
G194* |
probably null |
Het |
Or1e31 |
A |
T |
11: 73,689,787 (GRCm39) |
N265K |
probably benign |
Het |
Or2ag2 |
A |
T |
7: 106,485,880 (GRCm39) |
V48D |
possibly damaging |
Het |
Or2h2c |
A |
G |
17: 37,422,283 (GRCm39) |
M197T |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,523 (GRCm39) |
I280F |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,047,130 (GRCm39) |
|
probably null |
Het |
Parvg |
T |
C |
15: 84,222,002 (GRCm39) |
I243T |
probably damaging |
Het |
Paxip1 |
T |
A |
5: 27,970,736 (GRCm39) |
M538L |
unknown |
Het |
Pgghg |
G |
T |
7: 140,525,382 (GRCm39) |
D428Y |
probably damaging |
Het |
Pik3cd |
C |
T |
4: 149,738,507 (GRCm39) |
V777M |
possibly damaging |
Het |
Plcl2 |
A |
C |
17: 50,914,185 (GRCm39) |
K398T |
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,301,520 (GRCm39) |
|
probably null |
Het |
Rbbp6 |
T |
A |
7: 122,589,255 (GRCm39) |
|
probably null |
Het |
Rbbp6 |
T |
C |
7: 122,593,909 (GRCm39) |
Y514H |
possibly damaging |
Het |
Scin |
T |
A |
12: 40,119,414 (GRCm39) |
N538I |
probably damaging |
Het |
Sdcbp |
A |
G |
4: 6,385,144 (GRCm39) |
D121G |
probably benign |
Het |
Sgk1 |
T |
C |
10: 21,872,561 (GRCm39) |
I311T |
probably damaging |
Het |
Shq1 |
A |
C |
6: 100,550,717 (GRCm39) |
L407W |
probably damaging |
Het |
Sipa1 |
A |
T |
19: 5,701,699 (GRCm39) |
S979T |
probably benign |
Het |
Slc25a37 |
G |
T |
14: 69,487,028 (GRCm39) |
T85K |
probably benign |
Het |
Spag9 |
A |
T |
11: 93,904,480 (GRCm39) |
Q112L |
probably damaging |
Het |
Spg11 |
A |
T |
2: 121,896,748 (GRCm39) |
V1686E |
probably damaging |
Het |
Stap2 |
A |
G |
17: 56,304,909 (GRCm39) |
V291A |
probably benign |
Het |
Tnk2 |
C |
T |
16: 32,499,344 (GRCm39) |
R886C |
probably damaging |
Het |
Tnrc6c |
T |
A |
11: 117,611,777 (GRCm39) |
D138E |
possibly damaging |
Het |
Unc13c |
A |
G |
9: 73,587,756 (GRCm39) |
S1426P |
probably benign |
Het |
Vav1 |
G |
A |
17: 57,604,086 (GRCm39) |
V163M |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,801,196 (GRCm39) |
K247* |
probably null |
Het |
Zc2hc1c |
T |
C |
12: 85,343,336 (GRCm39) |
V491A |
possibly damaging |
Het |
Zfp51 |
A |
G |
17: 21,683,843 (GRCm39) |
T153A |
probably benign |
Het |
Zyx |
A |
G |
6: 42,333,096 (GRCm39) |
E374G |
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 |
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'- AGGAATCCACCATATTTCACTGC -3'
(R):5'- TCCTGCGGCAGTTCTAAAGC -3'
Sequencing Primer
(F):5'- CCTTTCACAAACTGATAGGTGAC -3'
(R):5'- CTGCGGCAGTTCTAAAGCTATAC -3'
|
Posted On |
2019-11-12 |