Incidental Mutation 'R9332:Heatr5a'
ID |
706947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr5a
|
Ensembl Gene |
ENSMUSG00000035181 |
Gene Name |
HEAT repeat containing 5A |
Synonyms |
D930036F22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R9332 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 51946068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1181
(T1181I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
AlphaFold |
Q5PRF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040583
AA Change: T1181I
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000043115 Gene: ENSMUSG00000035181 AA Change: T1181I
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd55 |
T |
G |
13: 112,459,677 (GRCm39) |
D90E |
probably damaging |
Het |
Arid1b |
C |
A |
17: 5,045,584 (GRCm39) |
P124Q |
unknown |
Het |
Atxn2 |
C |
T |
5: 121,923,425 (GRCm39) |
P698L |
probably damaging |
Het |
Bend7 |
T |
C |
2: 4,757,531 (GRCm39) |
V191A |
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,104,989 (GRCm39) |
D1485N |
|
Het |
C2cd4a |
T |
G |
9: 67,738,779 (GRCm39) |
H88P |
probably damaging |
Het |
Cacna1s |
C |
T |
1: 136,020,452 (GRCm39) |
Q830* |
probably null |
Het |
Camta1 |
T |
C |
4: 151,228,474 (GRCm39) |
E786G |
possibly damaging |
Het |
Caprin1 |
A |
G |
2: 103,603,390 (GRCm39) |
S443P |
probably benign |
Het |
Cass4 |
T |
G |
2: 172,269,806 (GRCm39) |
F629L |
probably benign |
Het |
Ccdc149 |
T |
A |
5: 52,562,399 (GRCm39) |
D209V |
probably damaging |
Het |
Ccdc150 |
T |
C |
1: 54,316,910 (GRCm39) |
V263A |
probably damaging |
Het |
Cfc1 |
C |
T |
1: 34,576,453 (GRCm39) |
R145C |
probably damaging |
Het |
Cnn1 |
C |
A |
9: 22,019,350 (GRCm39) |
D239E |
probably damaging |
Het |
Cobll1 |
C |
T |
2: 64,933,516 (GRCm39) |
S493N |
probably benign |
Het |
Cox20 |
A |
T |
1: 178,146,771 (GRCm39) |
K13* |
probably null |
Het |
Dclk1 |
G |
A |
3: 55,370,500 (GRCm39) |
S340N |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,038,877 (GRCm39) |
D8E |
probably benign |
Het |
Dnajc10 |
A |
T |
2: 80,175,327 (GRCm39) |
K571N |
probably benign |
Het |
Dock7 |
T |
A |
4: 98,896,280 (GRCm39) |
I58F |
|
Het |
Dpy19l4 |
A |
G |
4: 11,304,298 (GRCm39) |
|
probably null |
Het |
Eef2k |
A |
G |
7: 120,483,918 (GRCm39) |
D218G |
probably benign |
Het |
Eya4 |
G |
T |
10: 22,989,845 (GRCm39) |
T504K |
probably damaging |
Het |
Fam222a |
T |
C |
5: 114,749,398 (GRCm39) |
I198T |
probably damaging |
Het |
Fbxw10 |
T |
A |
11: 62,748,585 (GRCm39) |
F404Y |
probably benign |
Het |
Fbxw24 |
A |
T |
9: 109,452,681 (GRCm39) |
Y105N |
probably damaging |
Het |
Fzd10 |
T |
G |
5: 128,678,316 (GRCm39) |
L12R |
possibly damaging |
Het |
Gm14443 |
A |
G |
2: 175,017,610 (GRCm39) |
|
probably benign |
Het |
Gm21028 |
A |
T |
7: 42,227,904 (GRCm39) |
C37S |
probably damaging |
Het |
Gpr179 |
G |
T |
11: 97,229,551 (GRCm39) |
A868E |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,532,796 (GRCm39) |
Y897N |
possibly damaging |
Het |
Grid1 |
A |
T |
14: 35,045,360 (GRCm39) |
Y401F |
probably benign |
Het |
Herc4 |
G |
A |
10: 63,144,125 (GRCm39) |
V753I |
probably damaging |
Het |
Htra1 |
A |
T |
7: 130,563,851 (GRCm39) |
K241* |
probably null |
Het |
Kat6b |
A |
G |
14: 21,720,093 (GRCm39) |
I1482V |
probably benign |
Het |
Kif19a |
G |
T |
11: 114,680,033 (GRCm39) |
R790L |
possibly damaging |
Het |
Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
Lpcat1 |
T |
C |
13: 73,659,462 (GRCm39) |
L408S |
probably damaging |
Het |
Lrrc69 |
T |
A |
4: 14,774,987 (GRCm39) |
R94W |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,864,223 (GRCm39) |
T483A |
probably benign |
Het |
Mettl3 |
C |
A |
14: 52,534,125 (GRCm39) |
C483F |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,254,109 (GRCm39) |
D1543G |
possibly damaging |
Het |
Myh2 |
G |
A |
11: 67,070,209 (GRCm39) |
V414I |
probably damaging |
Het |
Myh7b |
C |
T |
2: 155,470,722 (GRCm39) |
R1057C |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,812,246 (GRCm39) |
S2006G |
probably benign |
Het |
Nelfcd |
A |
G |
2: 174,264,978 (GRCm39) |
K239R |
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,159,077 (GRCm39) |
S786P |
probably damaging |
Het |
Or5g23 |
T |
A |
2: 85,438,331 (GRCm39) |
K308* |
probably null |
Het |
Or6c205 |
A |
G |
10: 129,086,972 (GRCm39) |
T190A |
probably damaging |
Het |
Pdzrn4 |
G |
T |
15: 92,295,216 (GRCm39) |
V141L |
probably benign |
Het |
Phip |
G |
T |
9: 82,757,412 (GRCm39) |
R1587S |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,726,377 (GRCm39) |
E1448G |
probably damaging |
Het |
Plrg1 |
T |
C |
3: 82,976,308 (GRCm39) |
S326P |
possibly damaging |
Het |
Pom121l2 |
T |
A |
13: 22,165,852 (GRCm39) |
V41E |
probably damaging |
Het |
Pramel17 |
C |
T |
4: 101,695,144 (GRCm39) |
V56M |
probably damaging |
Het |
Preb |
G |
T |
5: 31,113,673 (GRCm39) |
S311* |
probably null |
Het |
Prss33 |
T |
A |
17: 24,053,723 (GRCm39) |
D118V |
probably damaging |
Het |
Pum1 |
C |
A |
4: 130,499,209 (GRCm39) |
Y1008* |
probably null |
Het |
Rassf2 |
G |
A |
2: 131,846,326 (GRCm39) |
R144C |
probably damaging |
Het |
Rnf123 |
A |
T |
9: 107,944,704 (GRCm39) |
M429K |
probably benign |
Het |
Rtl1 |
T |
A |
12: 109,557,291 (GRCm39) |
H1516L |
probably benign |
Het |
Scyl3 |
T |
A |
1: 163,764,007 (GRCm39) |
N124K |
probably damaging |
Het |
Sec24b |
A |
G |
3: 129,801,220 (GRCm39) |
S488P |
probably benign |
Het |
Shc4 |
T |
A |
2: 125,520,618 (GRCm39) |
D277V |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,912,814 (GRCm39) |
D1389V |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,158,812 (GRCm39) |
I2896N |
unknown |
Het |
Steap3 |
T |
A |
1: 120,155,564 (GRCm39) |
Y465F |
probably benign |
Het |
Tecta |
C |
A |
9: 42,284,193 (GRCm39) |
C964F |
probably damaging |
Het |
Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmem178b |
G |
A |
6: 39,981,181 (GRCm39) |
W72* |
probably null |
Het |
Tmem235 |
T |
G |
11: 117,751,665 (GRCm39) |
Y30D |
probably damaging |
Het |
Tpst1 |
C |
A |
5: 130,163,301 (GRCm39) |
T366K |
probably benign |
Het |
Trdv2-1 |
C |
A |
14: 54,183,848 (GRCm39) |
P27T |
probably benign |
Het |
Trim37 |
G |
T |
11: 87,058,328 (GRCm39) |
L335F |
possibly damaging |
Het |
Usp9y |
G |
A |
Y: 1,341,873 (GRCm39) |
R1331W |
probably damaging |
Het |
Vmn1r1 |
T |
G |
1: 181,985,002 (GRCm39) |
H221P |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,454,671 (GRCm39) |
S543T |
probably benign |
Het |
Wdpcp |
C |
T |
11: 21,661,522 (GRCm39) |
P265S |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,599,871 (GRCm39) |
L566P |
possibly damaging |
Het |
Zfp248 |
A |
G |
6: 118,405,891 (GRCm39) |
I566T |
possibly damaging |
Het |
Zfp595 |
T |
A |
13: 67,465,463 (GRCm39) |
I270F |
probably damaging |
Het |
Zfp715 |
A |
G |
7: 42,948,847 (GRCm39) |
L371P |
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 |
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 |
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'- ATCATCTGGTCGTGTCACTTAC -3'
(R):5'- GGCAGCTGAAATTGTTACCCG -3'
Sequencing Primer
(F):5'- GCAATGTCAAAATGAGCTCTGTTTGC -3'
(R):5'- GAAATTGTTACCCGTGCTTATGAGTC -3'
|
Posted On |
2022-04-18 |