Incidental Mutation 'R0034:Heatr5a'
| ID |
212436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr5a
|
| Ensembl Gene |
ENSMUSG00000035181 |
| Gene Name |
HEAT repeat containing 5A |
| Synonyms |
D930036F22Rik |
| MMRRC Submission |
038328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R0034 (G1)
|
| Quality Score |
52 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51971955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 745
(L745P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
| AlphaFold |
Q5PRF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040583
AA Change: L745P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: L745P
| 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 |
noncoding transcript
Transcript: ENSMUST00000218186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220369
|
| Meta Mutation Damage Score |
0.6700 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
C |
T |
7: 136,989,321 (GRCm39) |
R60Q |
probably benign |
Het |
| Angpt4 |
C |
T |
2: 151,771,311 (GRCm39) |
T209I |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,616,393 (GRCm39) |
|
probably benign |
Het |
| Aplp1 |
A |
C |
7: 30,143,867 (GRCm39) |
V56G |
probably damaging |
Het |
| Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,846 (GRCm38) |
H844L |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,859,288 (GRCm39) |
Y56H |
probably benign |
Het |
| Cd300lb |
C |
T |
11: 114,819,225 (GRCm39) |
V135I |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
| Cfap74 |
C |
T |
4: 155,545,344 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,175,708 (GRCm39) |
I47L |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,774,808 (GRCm39) |
T200A |
probably benign |
Het |
| Exoc1l |
A |
G |
5: 76,664,377 (GRCm39) |
I155M |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,262,973 (GRCm39) |
M795K |
probably benign |
Het |
| Gabpb1 |
C |
T |
2: 126,500,454 (GRCm39) |
R15Q |
possibly damaging |
Het |
| Gata4 |
C |
A |
14: 63,438,933 (GRCm39) |
M381I |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,058,282 (GRCm39) |
S446P |
possibly damaging |
Het |
| Gnb1 |
T |
A |
4: 155,636,146 (GRCm39) |
N155K |
probably benign |
Het |
| Haspin |
G |
A |
11: 73,029,044 (GRCm39) |
T15M |
probably damaging |
Het |
| Kcng3 |
T |
A |
17: 83,895,812 (GRCm39) |
|
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,828,350 (GRCm39) |
N887I |
possibly damaging |
Het |
| Kif26a |
T |
C |
12: 112,135,397 (GRCm39) |
|
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
| Kifc2 |
G |
T |
15: 76,551,300 (GRCm39) |
C613F |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,381,520 (GRCm39) |
I3826N |
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,093,913 (GRCm39) |
S2006P |
probably damaging |
Het |
| Or51m1 |
T |
C |
7: 103,578,708 (GRCm39) |
V226A |
probably benign |
Het |
| Pax4 |
T |
C |
6: 28,442,448 (GRCm39) |
T285A |
probably benign |
Het |
| Pcdhb5 |
A |
G |
18: 37,455,137 (GRCm39) |
N506D |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,367,405 (GRCm39) |
G768S |
probably benign |
Het |
| Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
| Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
| Poteg |
A |
G |
8: 27,952,105 (GRCm39) |
|
probably benign |
Het |
| Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
| Rhobtb2 |
T |
C |
14: 70,026,137 (GRCm39) |
T602A |
probably benign |
Het |
| Samd3 |
G |
A |
10: 26,147,398 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
C |
10: 79,894,174 (GRCm39) |
|
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,759 (GRCm39) |
V96A |
probably benign |
Het |
| Senp7 |
A |
C |
16: 55,973,933 (GRCm39) |
S385R |
possibly damaging |
Het |
| Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,938,392 (GRCm39) |
M467K |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,779,618 (GRCm39) |
I66T |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,058,752 (GRCm39) |
|
probably null |
Het |
| Tfrc |
T |
A |
16: 32,434,214 (GRCm39) |
|
probably null |
Het |
| Tmem30b |
T |
C |
12: 73,592,779 (GRCm39) |
Y112C |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,631,814 (GRCm39) |
S43P |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
| Uroc1 |
T |
C |
6: 90,322,292 (GRCm39) |
V272A |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,738 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,435 (GRCm39) |
W364R |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,221,556 (GRCm39) |
T377K |
possibly damaging |
Het |
| Zfta |
C |
A |
19: 7,397,724 (GRCm39) |
H90Q |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
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 |
|
|
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 |
|
|
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'- GAGCTTCATCCACAGTAGCACAGAC -3'
(R):5'- CCTGAGCCTCCTTTAATCTCAAGCG -3'
Sequencing Primer
(F):5'- CAACCCCAAAGAGCTTGGATG -3'
(R):5'- AGCATCGACGTGCTTACTG -3'
|
| Posted On |
2014-07-02 |
Incidental Mutation