Incidental Mutation 'R7143:Heatr5a'
| ID |
553564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr5a
|
| Ensembl Gene |
ENSMUSG00000035181 |
| Gene Name |
HEAT repeat containing 5A |
| Synonyms |
D930036F22Rik |
| MMRRC Submission |
045222-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R7143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
51922654-52018104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52008251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 31
(R31G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040583]
|
| AlphaFold |
Q5PRF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040583
AA Change: R31G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: R31G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
C |
T |
7: 103,708,422 (GRCm39) |
C129Y |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 111,474,333 (GRCm39) |
N374S |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,585,670 (GRCm39) |
S153P |
probably damaging |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Ankrd17 |
C |
A |
5: 90,433,820 (GRCm39) |
A650S |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,739,893 (GRCm39) |
R16G |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,165 (GRCm39) |
L570P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,063,377 (GRCm39) |
F101L |
probably damaging |
Het |
| Cadm4 |
T |
A |
7: 24,198,992 (GRCm39) |
I89N |
possibly damaging |
Het |
| Cadps |
C |
T |
14: 12,491,838 (GRCm38) |
V771I |
probably benign |
Het |
| Cenph |
A |
G |
13: 100,898,285 (GRCm39) |
V206A |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,663,966 (GRCm39) |
T253A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,816,457 (GRCm39) |
G939R |
probably benign |
Het |
| Cfap57 |
G |
A |
4: 118,477,906 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,791,673 (GRCm39) |
I166V |
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,476,961 (GRCm39) |
V144E |
probably benign |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,300 (GRCm39) |
H357L |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,670,151 (GRCm39) |
V12E |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,806,331 (GRCm39) |
I289V |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,133,625 (GRCm39) |
C527R |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,976,956 (GRCm39) |
W1879G |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,645,076 (GRCm39) |
T504A |
possibly damaging |
Het |
| Efl1 |
C |
T |
7: 82,411,888 (GRCm39) |
P759L |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,821,627 (GRCm39) |
I351L |
probably benign |
Het |
| Ercc6 |
G |
A |
14: 32,292,262 (GRCm39) |
E1209K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,351,000 (GRCm39) |
M292K |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,244 (GRCm39) |
V468L |
probably benign |
Het |
| Fhl2 |
G |
T |
1: 43,181,011 (GRCm39) |
H60N |
probably damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Gata4 |
C |
A |
14: 63,442,066 (GRCm39) |
R252L |
probably damaging |
Het |
| Glt8d1 |
T |
A |
14: 30,728,602 (GRCm39) |
I10N |
probably damaging |
Het |
| Gm10803 |
T |
A |
2: 93,394,304 (GRCm39) |
Y25* |
probably null |
Het |
| Gm19345 |
T |
C |
7: 19,591,759 (GRCm39) |
F108S |
unknown |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Gprc6a |
C |
T |
10: 51,490,986 (GRCm39) |
R921H |
probably benign |
Het |
| Hc |
A |
T |
2: 34,940,450 (GRCm39) |
H129Q |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,972,106 (GRCm39) |
K945E |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,884,230 (GRCm39) |
M237I |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,276,519 (GRCm39) |
S361T |
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,568,436 (GRCm39) |
F427L |
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,683,609 (GRCm39) |
M430K |
possibly damaging |
Het |
| Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
| Lamb3 |
A |
G |
1: 192,986,873 (GRCm39) |
E53G |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,202,655 (GRCm39) |
I1266K |
|
Het |
| Nat8 |
A |
T |
6: 85,807,485 (GRCm39) |
I216K |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,156,524 (GRCm39) |
I454V |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,343,120 (GRCm39) |
V153E |
probably damaging |
Het |
| Nlrp4f |
G |
C |
13: 65,347,166 (GRCm39) |
Q9E |
possibly damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,250 (GRCm39) |
I175N |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or1l4b |
A |
G |
2: 37,036,886 (GRCm39) |
T221A |
probably benign |
Het |
| Or4a74 |
T |
C |
2: 89,440,363 (GRCm39) |
M28V |
probably benign |
Het |
| Or52n3 |
C |
T |
7: 104,530,393 (GRCm39) |
P160S |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,708 (GRCm39) |
N154S |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,934 (GRCm39) |
E302D |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,908,836 (GRCm39) |
V5048E |
unknown |
Het |
| Pcnt |
A |
G |
10: 76,224,894 (GRCm39) |
L1870S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,161 (GRCm39) |
Y48H |
probably damaging |
Het |
| Pisd |
C |
T |
5: 32,895,846 (GRCm39) |
V241I |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,033 (GRCm39) |
M3464L |
possibly damaging |
Het |
| Pofut2 |
T |
A |
10: 77,095,260 (GRCm39) |
I35N |
probably benign |
Het |
| Prss27 |
A |
G |
17: 24,264,632 (GRCm39) |
Y265C |
probably damaging |
Het |
| Prss56 |
T |
A |
1: 87,115,875 (GRCm39) |
I583K |
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,211,487 (GRCm39) |
E87G |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 59,007,338 (GRCm39) |
H304R |
probably damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,955,848 (GRCm39) |
I62N |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,703,051 (GRCm39) |
I355F |
probably benign |
Het |
| Snx25 |
T |
C |
8: 46,488,752 (GRCm39) |
I868V |
possibly damaging |
Het |
| Spatc1l |
T |
A |
10: 76,405,765 (GRCm39) |
L323Q |
probably damaging |
Het |
| Speer4a2 |
T |
A |
5: 26,290,674 (GRCm39) |
I166F |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,428,814 (GRCm39) |
V962A |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 133,032,482 (GRCm39) |
I92T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,856,010 (GRCm39) |
Y22* |
probably null |
Het |
| Tti1 |
T |
A |
2: 157,849,596 (GRCm39) |
M548L |
probably benign |
Het |
| Unc93b1 |
T |
C |
19: 3,985,204 (GRCm39) |
V4A |
unknown |
Het |
| Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,722,646 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,648 (GRCm39) |
I30N |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,846 (GRCm39) |
M152L |
probably benign |
Het |
| Wdr20rt |
T |
G |
12: 65,272,692 (GRCm39) |
F52V |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,159,306 (GRCm39) |
H422Q |
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 |
|
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'- CTTCAGAAGGGACAAGGAATCC -3'
(R):5'- GTGTTGTTTCTCCACCGCAG -3'
Sequencing Primer
(F):5'- GGGACAAGGAATCCACCATATTTC -3'
(R):5'- GCAGGCTCGGTTCCTTAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation