Incidental Mutation 'R1978:Heatr5a'
ID |
222050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr5a
|
Ensembl Gene |
ENSMUSG00000035181 |
Gene Name |
HEAT repeat containing 5A |
Synonyms |
D930036F22Rik |
MMRRC Submission |
039991-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R1978 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51986441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 591
(S591T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
AlphaFold |
Q5PRF0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040583
AA Change: S591T
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000043115 Gene: ENSMUSG00000035181 AA Change: S591T
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: ENSMUST00000218254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219277
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220369
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
A |
5: 64,055,880 (GRCm39) |
C205* |
probably null |
Het |
4921539E11Rik |
T |
A |
4: 103,127,961 (GRCm39) |
T55S |
possibly damaging |
Het |
Akap12 |
A |
G |
10: 4,263,855 (GRCm39) |
D88G |
probably benign |
Het |
Ankrd53 |
C |
A |
6: 83,740,185 (GRCm39) |
F84L |
probably damaging |
Het |
Apol7b |
A |
C |
15: 77,307,539 (GRCm39) |
F319V |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,991,748 (GRCm39) |
S1335P |
probably benign |
Het |
Cep192 |
T |
C |
18: 67,936,228 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
G |
4: 118,450,329 (GRCm39) |
S598P |
probably benign |
Het |
Commd8 |
T |
C |
5: 72,322,842 (GRCm39) |
H25R |
probably damaging |
Het |
Crisp4 |
T |
C |
1: 18,198,889 (GRCm39) |
I143V |
probably benign |
Het |
Cyp4a12b |
A |
T |
4: 115,295,342 (GRCm39) |
T483S |
probably benign |
Het |
Dbx2 |
C |
T |
15: 95,530,234 (GRCm39) |
M244I |
probably damaging |
Het |
Dnah6 |
T |
G |
6: 73,098,953 (GRCm39) |
H1982P |
possibly damaging |
Het |
Fam220a |
C |
A |
5: 143,548,882 (GRCm39) |
P98Q |
probably damaging |
Het |
Ggnbp1 |
A |
G |
17: 27,248,517 (GRCm39) |
K29E |
possibly damaging |
Het |
Gm14569 |
A |
C |
X: 35,695,781 (GRCm39) |
M976R |
probably benign |
Het |
Hck |
G |
T |
2: 152,971,776 (GRCm39) |
W112C |
probably damaging |
Het |
Hhat |
A |
G |
1: 192,399,415 (GRCm39) |
S242P |
probably benign |
Het |
Hnrnpll |
A |
G |
17: 80,351,947 (GRCm39) |
S333P |
probably benign |
Het |
Hoxc6 |
T |
C |
15: 102,918,439 (GRCm39) |
|
probably null |
Het |
Inpp5j |
G |
A |
11: 3,452,150 (GRCm39) |
P367S |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,009,343 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
T |
A |
18: 77,409,338 (GRCm39) |
I194N |
possibly damaging |
Het |
Miga1 |
CCAGGGCAG |
CCAG |
3: 152,040,941 (GRCm39) |
|
probably null |
Het |
Mkln1 |
C |
T |
6: 31,467,465 (GRCm39) |
Q60* |
probably null |
Het |
Muc21 |
T |
A |
17: 35,933,857 (GRCm39) |
|
probably benign |
Het |
Mybph |
C |
A |
1: 134,124,734 (GRCm39) |
H185N |
probably benign |
Het |
Myo1g |
T |
C |
11: 6,470,829 (GRCm39) |
D9G |
possibly damaging |
Het |
Myo6 |
A |
T |
9: 80,136,207 (GRCm39) |
D110V |
probably damaging |
Het |
Ncoa7 |
A |
G |
10: 30,567,295 (GRCm39) |
V412A |
probably benign |
Het |
Neb |
T |
C |
2: 52,177,357 (GRCm39) |
K1328R |
probably damaging |
Het |
Olfm5 |
T |
A |
7: 103,813,948 (GRCm39) |
Q22L |
unknown |
Het |
Or10ak7 |
A |
T |
4: 118,791,381 (GRCm39) |
Y221* |
probably null |
Het |
Or4d11 |
T |
C |
19: 12,013,705 (GRCm39) |
T134A |
probably benign |
Het |
Or5j1 |
C |
T |
2: 86,879,179 (GRCm39) |
V134M |
possibly damaging |
Het |
Or6b3 |
C |
A |
1: 92,439,499 (GRCm39) |
G84C |
probably damaging |
Het |
Or6p1 |
T |
A |
1: 174,258,657 (GRCm39) |
I221N |
probably damaging |
Het |
Or7a39 |
A |
G |
10: 78,715,114 (GRCm39) |
Y36C |
probably damaging |
Het |
P3h1 |
A |
T |
4: 119,105,173 (GRCm39) |
Q717L |
probably null |
Het |
Pclo |
T |
C |
5: 14,763,809 (GRCm39) |
I4094T |
unknown |
Het |
Pfdn6 |
G |
A |
17: 34,158,051 (GRCm39) |
R73W |
probably benign |
Het |
Phyhipl |
A |
C |
10: 70,395,591 (GRCm39) |
M205R |
possibly damaging |
Het |
Pitpnm1 |
C |
T |
19: 4,157,973 (GRCm39) |
|
probably null |
Het |
Plcg1 |
A |
G |
2: 160,594,498 (GRCm39) |
|
probably null |
Het |
Pnldc1 |
A |
G |
17: 13,125,392 (GRCm39) |
S81P |
possibly damaging |
Het |
Pno1 |
T |
C |
11: 17,154,519 (GRCm39) |
I221V |
possibly damaging |
Het |
Porcn |
A |
G |
X: 8,070,540 (GRCm39) |
V75A |
probably damaging |
Het |
Prkcg |
T |
A |
7: 3,353,862 (GRCm39) |
C69S |
probably damaging |
Het |
Rbbp6 |
G |
T |
7: 122,598,711 (GRCm39) |
|
probably benign |
Het |
Resf1 |
T |
A |
6: 149,227,930 (GRCm39) |
N325K |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scly |
A |
G |
1: 91,247,891 (GRCm39) |
D413G |
probably damaging |
Het |
Scn11a |
G |
A |
9: 119,609,861 (GRCm39) |
R996* |
probably null |
Het |
Skic3 |
T |
C |
13: 76,282,934 (GRCm39) |
V752A |
probably benign |
Het |
Slc6a13 |
A |
T |
6: 121,309,332 (GRCm39) |
D281V |
probably damaging |
Het |
Slfn5 |
T |
C |
11: 82,847,442 (GRCm39) |
V109A |
probably benign |
Het |
Smyd1 |
A |
T |
6: 71,289,703 (GRCm39) |
|
probably null |
Het |
Snx29 |
T |
A |
16: 11,185,588 (GRCm39) |
M57K |
probably benign |
Het |
Stag1 |
T |
G |
9: 100,770,139 (GRCm39) |
I603S |
probably benign |
Het |
Svep1 |
C |
A |
4: 58,097,292 (GRCm39) |
C1417F |
possibly damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,009,714 (GRCm39) |
I392V |
probably benign |
Het |
Tchh |
T |
C |
3: 93,354,106 (GRCm39) |
L1182P |
unknown |
Het |
Tle3 |
T |
A |
9: 61,301,915 (GRCm39) |
V108E |
probably damaging |
Het |
Tmem144 |
T |
C |
3: 79,732,707 (GRCm39) |
|
probably null |
Het |
Tpr |
T |
G |
1: 150,295,658 (GRCm39) |
L894V |
possibly damaging |
Het |
Trappc9 |
A |
T |
15: 72,871,874 (GRCm39) |
V472E |
probably damaging |
Het |
Trim38 |
T |
C |
13: 23,975,081 (GRCm39) |
V340A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn1r12 |
T |
A |
6: 57,136,494 (GRCm39) |
I197N |
possibly damaging |
Het |
Vmn1r26 |
T |
C |
6: 57,986,111 (GRCm39) |
Y26C |
possibly damaging |
Het |
Vwa3a |
A |
G |
7: 120,358,177 (GRCm39) |
I83V |
probably null |
Het |
Xirp1 |
C |
T |
9: 119,847,657 (GRCm39) |
E409K |
probably benign |
Het |
Zc3h14 |
T |
G |
12: 98,730,181 (GRCm39) |
I46R |
probably damaging |
Het |
Zfp976 |
A |
G |
7: 42,263,265 (GRCm39) |
C191R |
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 |
|
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'- GGAAACACCAGCCAGATTCCTG -3'
(R):5'- CTGGGCTGCAACACTTAATAACC -3'
Sequencing Primer
(F):5'- AGATTCCTGTCCCCTTACACTAAATG -3'
(R):5'- CTGCAACACTTAATAACCATTCATTG -3'
|
Posted On |
2014-08-25 |