Incidental Mutation 'R0184:Heatr5a'
| ID |
23988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr5a
|
| Ensembl Gene |
ENSMUSG00000035181 |
| Gene Name |
HEAT repeat containing 5A |
| Synonyms |
D930036F22Rik |
| MMRRC Submission |
038449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R0184 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51956752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1115
(D1115G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
| AlphaFold |
Q5PRF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040583
AA Change: D1115G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: D1115G
| 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 |
unknown
Transcript: ENSMUST00000217966
AA Change: D218G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220369
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.9%
|
| Validation Efficiency |
66% (50/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
A |
3: 124,212,899 (GRCm39) |
V131F |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,874,822 (GRCm39) |
D285G |
probably benign |
Het |
| Akr1c13 |
A |
G |
13: 4,244,055 (GRCm39) |
E36G |
probably damaging |
Het |
| Antxr2 |
A |
G |
5: 98,127,889 (GRCm39) |
L214S |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 38,750,726 (GRCm39) |
D46E |
unknown |
Het |
| Armc9 |
T |
C |
1: 86,126,092 (GRCm39) |
L61P |
probably damaging |
Het |
| Bicc1 |
C |
A |
10: 70,915,045 (GRCm39) |
R73L |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,743,269 (GRCm39) |
N43S |
probably benign |
Het |
| Cct7 |
A |
G |
6: 85,438,536 (GRCm39) |
D105G |
probably null |
Het |
| Cdk18 |
T |
C |
1: 132,046,276 (GRCm39) |
N215D |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,103,396 (GRCm39) |
T205A |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,456,209 (GRCm39) |
I495N |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,886,432 (GRCm39) |
C152* |
probably null |
Het |
| Dab2ip |
G |
A |
2: 35,608,803 (GRCm39) |
R579H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,902,657 (GRCm39) |
V905A |
probably benign |
Het |
| Eif4h |
C |
A |
5: 134,654,229 (GRCm39) |
D134Y |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,207,651 (GRCm39) |
S372T |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,187,114 (GRCm39) |
H1244L |
probably damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,316,101 (GRCm39) |
N443I |
probably benign |
Het |
| Git2 |
G |
A |
5: 114,877,098 (GRCm39) |
T128M |
possibly damaging |
Het |
| Gm10985 |
T |
A |
3: 53,752,679 (GRCm39) |
Y21N |
probably damaging |
Het |
| Gm12790 |
A |
T |
4: 101,824,811 (GRCm39) |
Y152* |
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,695,866 (GRCm39) |
N726S |
possibly damaging |
Het |
| Hrg |
T |
C |
16: 22,772,521 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
G |
13: 49,875,688 (GRCm39) |
S792A |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,875,941 (GRCm39) |
N1301S |
possibly damaging |
Het |
| Il22 |
A |
T |
10: 118,041,511 (GRCm39) |
I75F |
probably damaging |
Het |
| Ilkap |
T |
C |
1: 91,304,027 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,456,542 (GRCm39) |
Y435N |
probably benign |
Het |
| Ints8 |
A |
C |
4: 11,218,637 (GRCm39) |
S797A |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,788,403 (GRCm39) |
D405E |
probably benign |
Het |
| Itgam |
A |
T |
7: 127,685,230 (GRCm39) |
I448F |
probably damaging |
Het |
| Klk1 |
C |
T |
7: 43,878,173 (GRCm39) |
T41I |
possibly damaging |
Het |
| Mcrip1 |
T |
C |
11: 120,435,710 (GRCm39) |
M1V |
probably null |
Het |
| Mdga1 |
A |
G |
17: 30,071,416 (GRCm39) |
Y128H |
probably damaging |
Het |
| Mtor |
G |
T |
4: 148,549,428 (GRCm39) |
R604L |
probably benign |
Het |
| Or52p1 |
T |
C |
7: 104,267,447 (GRCm39) |
V187A |
probably damaging |
Het |
| Or5d41 |
A |
T |
2: 88,055,124 (GRCm39) |
L84* |
probably null |
Het |
| Pcdhb7 |
T |
A |
18: 37,476,443 (GRCm39) |
D526E |
probably benign |
Het |
| Pip4k2a |
T |
C |
2: 18,893,939 (GRCm39) |
D139G |
probably damaging |
Het |
| Pkp3 |
A |
C |
7: 140,668,280 (GRCm39) |
N536T |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,090,145 (GRCm39) |
S524T |
probably benign |
Het |
| Pno1 |
T |
C |
11: 17,161,127 (GRCm39) |
E69G |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,191,139 (GRCm39) |
V231M |
probably benign |
Het |
| Poli |
A |
G |
18: 70,655,802 (GRCm39) |
S248P |
probably damaging |
Het |
| Ppox |
C |
T |
1: 171,107,126 (GRCm39) |
S138N |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,419,901 (GRCm39) |
E6G |
probably null |
Het |
| Rbmx |
C |
T |
X: 56,436,926 (GRCm39) |
|
probably null |
Het |
| Rln1 |
T |
A |
19: 29,309,336 (GRCm39) |
K148* |
probably null |
Het |
| Rnf213 |
C |
T |
11: 119,305,347 (GRCm39) |
T526I |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,531,290 (GRCm39) |
V904E |
probably null |
Het |
| Sf3b2 |
T |
A |
19: 5,333,700 (GRCm39) |
I633F |
probably damaging |
Het |
| Sfswap |
T |
A |
5: 129,584,253 (GRCm39) |
I189N |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,669,649 (GRCm39) |
Y973* |
probably null |
Het |
| Spink5 |
G |
A |
18: 44,136,265 (GRCm39) |
D559N |
probably benign |
Het |
| Spty2d1 |
C |
T |
7: 46,647,322 (GRCm39) |
V536I |
possibly damaging |
Het |
| Tbx3 |
T |
C |
5: 119,813,627 (GRCm39) |
I221T |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,736,501 (GRCm39) |
D1650V |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,358,701 (GRCm39) |
K45R |
probably benign |
Het |
| Tirap |
A |
G |
9: 35,100,490 (GRCm39) |
S65P |
probably benign |
Het |
| Trim25 |
C |
T |
11: 88,890,466 (GRCm39) |
P51L |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,467,069 (GRCm39) |
N64S |
probably benign |
Het |
| Twf1 |
T |
A |
15: 94,478,948 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
C |
4: 139,172,573 (GRCm39) |
T1692P |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,469,863 (GRCm39) |
M86T |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,543,362 (GRCm39) |
D1762G |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,265 (GRCm39) |
S625G |
probably damaging |
Het |
| Vmn2r90 |
G |
A |
17: 17,947,139 (GRCm39) |
W472* |
probably null |
Het |
| Vrk2 |
C |
A |
11: 26,500,046 (GRCm39) |
A56S |
probably damaging |
Het |
| Yeats2 |
C |
T |
16: 20,022,435 (GRCm39) |
P620S |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,751,713 (GRCm39) |
D171N |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,766,808 (GRCm39) |
I440F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
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 |
|
|
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'- TCCATCACCAGGCAGAGTGGTAAC -3'
(R):5'- TGTGTCCAGCCTATTAATGCACTAACG -3'
Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- TCTAGACTGAGACTGAGTATCACC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation