Incidental Mutation 'R0127:Heatr5a'
| ID |
21469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr5a
|
| Ensembl Gene |
ENSMUSG00000035181 |
| Gene Name |
HEAT repeat containing 5A |
| Synonyms |
D930036F22Rik |
| MMRRC Submission |
038412-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R0127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
12 |
| Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51972188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 694
(V694A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
| AlphaFold |
Q5PRF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040583
AA Change: V694A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: V694A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
99% (85/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
C |
16: 88,504,342 (GRCm39) |
T152A |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,067,155 (GRCm39) |
I1351V |
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,778,043 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,720,935 (GRCm39) |
L521P |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,510,384 (GRCm39) |
D661G |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,556,112 (GRCm39) |
N262K |
probably damaging |
Het |
| Baz1a |
T |
A |
12: 54,945,491 (GRCm39) |
D1288V |
possibly damaging |
Het |
| Bbs1 |
A |
T |
19: 4,945,057 (GRCm39) |
D371E |
probably benign |
Het |
| Bphl |
A |
G |
13: 34,248,029 (GRCm39) |
|
probably benign |
Het |
| Caskin2 |
C |
A |
11: 115,691,820 (GRCm39) |
R988S |
probably damaging |
Het |
| Cbr1 |
C |
A |
16: 93,406,875 (GRCm39) |
T197N |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,901,999 (GRCm39) |
E1213G |
possibly damaging |
Het |
| Ccna1 |
A |
G |
3: 54,957,169 (GRCm39) |
F83L |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,372,787 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
C |
A |
7: 35,127,687 (GRCm39) |
T543K |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,610,738 (GRCm39) |
M45V |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,946,650 (GRCm39) |
V91E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,845,326 (GRCm39) |
N920S |
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,554,190 (GRCm39) |
|
probably benign |
Het |
| Dao |
T |
A |
5: 114,158,024 (GRCm39) |
H215Q |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,313,617 (GRCm39) |
D885G |
probably benign |
Het |
| Dlx4 |
T |
G |
11: 95,032,055 (GRCm39) |
M240L |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,295,071 (GRCm39) |
P1351L |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,015,717 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,083,491 (GRCm39) |
D139E |
probably benign |
Het |
| Dynlt5 |
T |
C |
4: 102,859,649 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
T |
C |
6: 135,195,821 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,180,112 (GRCm39) |
T1410A |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,815,269 (GRCm39) |
N3667K |
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,057,880 (GRCm39) |
I580V |
probably benign |
Het |
| Hapln1 |
A |
T |
13: 89,755,988 (GRCm39) |
Y264F |
probably benign |
Het |
| Hps1 |
A |
G |
19: 42,759,550 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,245,681 (GRCm39) |
R1216L |
possibly damaging |
Het |
| Il4ra |
G |
T |
7: 125,168,242 (GRCm39) |
C87F |
probably damaging |
Het |
| Kmt5b |
A |
G |
19: 3,836,465 (GRCm39) |
M1V |
probably null |
Het |
| Krit1 |
A |
G |
5: 3,872,178 (GRCm39) |
E401G |
probably damaging |
Het |
| Lamp1 |
T |
C |
8: 13,224,491 (GRCm39) |
V385A |
probably damaging |
Het |
| Ly6g5b |
A |
G |
17: 35,333,567 (GRCm39) |
Y82H |
probably damaging |
Het |
| Mapre2 |
A |
G |
18: 23,937,232 (GRCm39) |
I25V |
probably benign |
Het |
| Mep1a |
A |
G |
17: 43,808,777 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
A |
G |
6: 39,376,209 (GRCm39) |
W466R |
probably benign |
Het |
| Muc2 |
C |
A |
7: 141,302,691 (GRCm39) |
F11L |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,397,794 (GRCm39) |
M501L |
probably benign |
Het |
| Oga |
A |
T |
19: 45,760,327 (GRCm39) |
I277N |
probably damaging |
Het |
| Or11g2 |
A |
G |
14: 50,855,789 (GRCm39) |
I37V |
probably benign |
Het |
| Or4p18 |
A |
G |
2: 88,232,699 (GRCm39) |
V193A |
probably benign |
Het |
| Or5w8 |
A |
G |
2: 87,687,827 (GRCm39) |
I103V |
probably benign |
Het |
| Or8g32 |
A |
G |
9: 39,305,238 (GRCm39) |
I50M |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,776,787 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,418,001 (GRCm39) |
M2886V |
probably damaging |
Het |
| Pop5 |
T |
A |
5: 115,378,230 (GRCm39) |
L58H |
probably damaging |
Het |
| Prkch |
C |
A |
12: 73,768,561 (GRCm39) |
H444N |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,209,134 (GRCm39) |
D1148G |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,458 (GRCm39) |
T120M |
probably damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,977,998 (GRCm39) |
S320C |
probably damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,831,864 (GRCm39) |
R101H |
probably benign |
Het |
| Rtf1 |
G |
A |
2: 119,557,224 (GRCm39) |
R443H |
probably damaging |
Het |
| Serac1 |
G |
T |
17: 6,099,115 (GRCm39) |
L559I |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,061,682 (GRCm39) |
R958G |
probably damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,833,350 (GRCm39) |
W456R |
probably damaging |
Het |
| Slc28a2b |
T |
A |
2: 122,347,550 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
C |
T |
1: 125,503,942 (GRCm39) |
P290L |
probably damaging |
Het |
| Slc35g2 |
C |
T |
9: 100,435,170 (GRCm39) |
R167Q |
probably benign |
Het |
| Spag4 |
T |
C |
2: 155,909,962 (GRCm39) |
V302A |
probably damaging |
Het |
| Spire2 |
A |
C |
8: 124,084,836 (GRCm39) |
|
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,774,772 (GRCm39) |
V142L |
probably damaging |
Het |
| Syt17 |
T |
A |
7: 118,009,164 (GRCm39) |
D352V |
probably damaging |
Het |
| Tars3 |
A |
T |
7: 65,314,717 (GRCm39) |
D425V |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,554,907 (GRCm39) |
S326P |
probably benign |
Het |
| Tnpo2 |
T |
C |
8: 85,767,257 (GRCm39) |
S64P |
probably damaging |
Het |
| Tonsl |
G |
T |
15: 76,517,685 (GRCm39) |
A678D |
probably benign |
Het |
| Trim12c |
A |
G |
7: 103,990,113 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
A |
G |
14: 76,656,421 (GRCm39) |
T885A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,572,542 (GRCm39) |
D26117G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,707,355 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
T |
C |
15: 9,306,342 (GRCm39) |
F164L |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,160 (GRCm39) |
N170S |
probably damaging |
Het |
| Vrk2 |
G |
T |
11: 26,484,313 (GRCm39) |
|
probably benign |
Het |
| Wt1 |
C |
A |
2: 104,963,802 (GRCm39) |
D207E |
probably damaging |
Het |
| Zbtb46 |
G |
A |
2: 181,053,608 (GRCm39) |
A368V |
probably benign |
Het |
| Zc3h13 |
A |
T |
14: 75,560,694 (GRCm39) |
D428V |
unknown |
Het |
| Zcchc8 |
C |
G |
5: 123,845,400 (GRCm39) |
G320A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,886,130 (GRCm39) |
E810G |
possibly 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 |
|
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'- AGCTTGGATGCAGAGCTAATCACAG -3'
(R):5'- GCCTTGGAAGAAGTGGACACACAAC -3'
Sequencing Primer
(F):5'- GGGTCATATTCTAGACTTCCACAGG -3'
(R):5'- GTGGACACACAACTGAGCTATTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation