Incidental Mutation 'R6798:Heatr5a'
| ID |
533131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr5a
|
| Ensembl Gene |
ENSMUSG00000035181 |
| Gene Name |
HEAT repeat containing 5A |
| Synonyms |
D930036F22Rik |
| MMRRC Submission |
044911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R6798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51928048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1816
(V1816A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
| AlphaFold |
Q5PRF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040583
AA Change: V1816A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: V1816A
| 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: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,782,364 (GRCm39) |
Y916H |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,667,834 (GRCm39) |
I740V |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,210,784 (GRCm39) |
D161E |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,703,280 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,737,913 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
A |
1: 139,396,423 (GRCm39) |
H867Q |
possibly damaging |
Het |
| Aurkaip1 |
T |
C |
4: 155,917,196 (GRCm39) |
|
probably null |
Het |
| BC048507 |
A |
C |
13: 68,011,683 (GRCm39) |
D20A |
probably benign |
Het |
| Cacna1a |
G |
A |
8: 85,338,231 (GRCm39) |
A1704T |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,408,447 (GRCm39) |
|
probably null |
Het |
| Cep19 |
T |
C |
16: 31,922,867 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,625,859 (GRCm39) |
T813A |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,778,182 (GRCm39) |
E2731V |
possibly damaging |
Het |
| Chrd |
T |
C |
16: 20,553,056 (GRCm39) |
L139P |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,585 (GRCm39) |
E489G |
possibly damaging |
Het |
| Clcn7 |
A |
G |
17: 25,378,734 (GRCm39) |
N720D |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,722,731 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
T |
A |
3: 83,255,593 (GRCm39) |
Y2430N |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,614,751 (GRCm39) |
I64T |
probably damaging |
Het |
| Eif2b3 |
G |
T |
4: 116,923,655 (GRCm39) |
W290L |
probably benign |
Het |
| Epha6 |
T |
G |
16: 60,425,427 (GRCm39) |
E62A |
possibly damaging |
Het |
| Epha6 |
C |
T |
16: 60,425,428 (GRCm39) |
E62K |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
| Fbxw17 |
C |
A |
13: 50,587,300 (GRCm39) |
|
probably null |
Het |
| Fndc8 |
C |
T |
11: 82,783,217 (GRCm39) |
T66I |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,284,850 (GRCm39) |
T1224A |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,259,361 (GRCm39) |
D36G |
probably damaging |
Het |
| Glt28d2 |
T |
C |
3: 85,779,296 (GRCm39) |
D59G |
probably benign |
Het |
| Gorasp1 |
T |
C |
9: 119,758,663 (GRCm39) |
D243G |
probably benign |
Het |
| Gtsf1l |
T |
C |
2: 162,929,391 (GRCm39) |
K31E |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,167,730 (GRCm39) |
K274E |
probably damaging |
Het |
| Il1rl2 |
T |
C |
1: 40,404,400 (GRCm39) |
I507T |
probably damaging |
Het |
| Jak3 |
T |
G |
8: 72,133,615 (GRCm39) |
F408V |
probably damaging |
Het |
| Kdm1b |
A |
G |
13: 47,222,012 (GRCm39) |
T484A |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Map9 |
T |
G |
3: 82,287,471 (GRCm39) |
L31W |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,975,266 (GRCm39) |
|
probably benign |
Het |
| Mt1 |
A |
G |
8: 94,906,516 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,909,252 (GRCm39) |
I1964V |
probably damaging |
Het |
| Nalf1 |
G |
A |
8: 9,820,205 (GRCm39) |
Q272* |
probably null |
Het |
| Nod1 |
A |
T |
6: 54,921,596 (GRCm39) |
C241S |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,937,378 (GRCm39) |
D685V |
probably damaging |
Het |
| Oog1 |
A |
T |
12: 87,655,609 (GRCm39) |
|
probably null |
Het |
| Or11a4 |
T |
G |
17: 37,536,697 (GRCm39) |
L227R |
probably damaging |
Het |
| Or2ag13 |
T |
C |
7: 106,313,402 (GRCm39) |
Y162C |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,584 (GRCm39) |
V30A |
probably benign |
Het |
| Or56b1b |
T |
A |
7: 108,164,967 (GRCm39) |
K12* |
probably null |
Het |
| P4htm |
T |
A |
9: 108,460,117 (GRCm39) |
N219I |
possibly damaging |
Het |
| Pcif1 |
T |
C |
2: 164,727,711 (GRCm39) |
L168P |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,795,850 (GRCm39) |
V46A |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,799,451 (GRCm39) |
T480A |
probably benign |
Het |
| Prkd2 |
A |
T |
7: 16,583,128 (GRCm39) |
K297* |
probably null |
Het |
| Prl7d1 |
T |
A |
13: 27,893,380 (GRCm39) |
|
probably null |
Het |
| Pxdc1 |
G |
T |
13: 34,836,408 (GRCm39) |
A4E |
possibly damaging |
Het |
| Rcor1 |
A |
G |
12: 111,006,320 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,730,759 (GRCm39) |
D2761V |
probably damaging |
Het |
| Scgb1b7 |
A |
G |
7: 31,412,406 (GRCm39) |
T61A |
probably damaging |
Het |
| Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
| Setd4 |
C |
A |
16: 93,386,841 (GRCm39) |
V286F |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,137,968 (GRCm39) |
S536P |
probably benign |
Het |
| Snx25 |
T |
C |
8: 46,486,810 (GRCm39) |
H977R |
probably damaging |
Het |
| Spint5 |
T |
A |
2: 164,559,060 (GRCm39) |
C95* |
probably null |
Het |
| Sprr5 |
G |
C |
3: 92,440,243 (GRCm39) |
C65W |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,761,809 (GRCm39) |
D113G |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,691,180 (GRCm39) |
S476T |
probably benign |
Het |
| Tg |
A |
G |
15: 66,550,688 (GRCm39) |
T273A |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,024,665 (GRCm39) |
Y1155H |
probably benign |
Het |
| Trpm2 |
T |
A |
10: 77,750,574 (GRCm39) |
N1341Y |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfand1 |
T |
G |
3: 10,411,236 (GRCm39) |
K67T |
probably benign |
Het |
| Zfand4 |
A |
C |
6: 116,305,214 (GRCm39) |
K214Q |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,968,668 (GRCm39) |
V465E |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,060 (GRCm39) |
Y782C |
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 |
|
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'- GCGCTCTGCTAAAAGACACTTAC -3'
(R):5'- AACTGATCCTTGGGAAATGGGG -3'
Sequencing Primer
(F):5'- GACACTTACCACAGAGTCCTTG -3'
(R):5'- TGGAGCTCAGAGGTAGAATACTTTCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation