Incidental Mutation 'R1859:Heatr1'
ID |
204253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr1
|
Ensembl Gene |
ENSMUSG00000050244 |
Gene Name |
HEAT repeat containing 1 |
Synonyms |
B130016L12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R1859 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
12410256-12453774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12418040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 324
(L324S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059270]
[ENSMUST00000221046]
|
AlphaFold |
G3X9B1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059270
AA Change: L324S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054084 Gene: ENSMUSG00000050244 AA Change: L324S
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
Pfam:U3snoRNP10
|
238 |
354 |
7e-30 |
PFAM |
SCOP:d1qbkb_
|
919 |
1795 |
3e-8 |
SMART |
low complexity region
|
1805 |
1814 |
N/A |
INTRINSIC |
BP28CT
|
1856 |
2009 |
2.25e-77 |
SMART |
Blast:BP28CT
|
2015 |
2061 |
2e-15 |
BLAST |
coiled coil region
|
2109 |
2137 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000221046
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,637,268 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,349,530 (GRCm39) |
E467G |
probably damaging |
Het |
Alkbh8 |
A |
G |
9: 3,385,499 (GRCm39) |
D597G |
probably benign |
Het |
Alpk1 |
T |
A |
3: 127,474,749 (GRCm39) |
H418L |
possibly damaging |
Het |
Ano5 |
G |
T |
7: 51,196,581 (GRCm39) |
V138L |
probably damaging |
Het |
Aspg |
T |
A |
12: 112,087,606 (GRCm39) |
I319K |
possibly damaging |
Het |
Atp9b |
T |
C |
18: 80,793,135 (GRCm39) |
T970A |
possibly damaging |
Het |
Brd10 |
A |
C |
19: 29,732,323 (GRCm39) |
C230G |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,954,527 (GRCm39) |
M881L |
probably benign |
Het |
Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
Cdca5 |
T |
C |
19: 6,140,124 (GRCm39) |
V95A |
possibly damaging |
Het |
Cds2 |
A |
G |
2: 132,144,115 (GRCm39) |
Y297C |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,303,946 (GRCm39) |
G2371S |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,825,341 (GRCm39) |
V1213A |
possibly damaging |
Het |
Chd5 |
T |
A |
4: 152,464,980 (GRCm39) |
I1557N |
probably benign |
Het |
Cntn5 |
C |
T |
9: 9,972,839 (GRCm39) |
E266K |
probably damaging |
Het |
Crtam |
G |
A |
9: 40,884,900 (GRCm39) |
T363M |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,328,712 (GRCm39) |
S3298P |
probably damaging |
Het |
Dok1 |
A |
T |
6: 83,009,226 (GRCm39) |
Y209N |
probably damaging |
Het |
Dpp10 |
T |
C |
1: 123,281,333 (GRCm39) |
D561G |
possibly damaging |
Het |
Drosha |
A |
G |
15: 12,878,804 (GRCm39) |
K710R |
probably benign |
Het |
Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,248,735 (GRCm39) |
S429P |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,069,306 (GRCm39) |
V521E |
probably damaging |
Het |
Fbxl7 |
A |
T |
15: 26,543,279 (GRCm39) |
L456Q |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
Foxc2 |
G |
T |
8: 121,843,364 (GRCm39) |
R4L |
probably damaging |
Het |
Glyctk |
C |
T |
9: 106,034,731 (GRCm39) |
V112I |
probably benign |
Het |
Guf1 |
G |
T |
5: 69,725,803 (GRCm39) |
G481* |
probably null |
Het |
Hectd1 |
A |
G |
12: 51,853,350 (GRCm39) |
L57P |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,532,944 (GRCm39) |
C3080S |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifit1 |
T |
A |
19: 34,624,944 (GRCm39) |
F27I |
probably benign |
Het |
Ift20 |
G |
T |
11: 78,430,860 (GRCm39) |
E68* |
probably null |
Het |
Itsn1 |
A |
G |
16: 91,686,042 (GRCm39) |
|
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,553,006 (GRCm39) |
L38Q |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,907,078 (GRCm39) |
M2361K |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Map3k9 |
A |
T |
12: 81,771,256 (GRCm39) |
S800R |
possibly damaging |
Het |
Mef2a |
A |
G |
7: 66,915,766 (GRCm39) |
S179P |
probably damaging |
Het |
Micall1 |
A |
G |
15: 79,007,145 (GRCm39) |
|
probably benign |
Het |
Mpg |
A |
G |
11: 32,181,957 (GRCm39) |
|
probably null |
Het |
Mpp7 |
A |
T |
18: 7,350,967 (GRCm39) |
*577K |
probably null |
Het |
Msh4 |
G |
T |
3: 153,611,517 (GRCm39) |
H35Q |
probably benign |
Het |
Mst1 |
G |
A |
9: 107,961,545 (GRCm39) |
V601I |
probably benign |
Het |
Myh10 |
T |
A |
11: 68,636,239 (GRCm39) |
N246K |
probably benign |
Het |
Myom3 |
C |
A |
4: 135,506,707 (GRCm39) |
N493K |
probably benign |
Het |
Mypn |
T |
C |
10: 62,981,969 (GRCm39) |
D537G |
probably benign |
Het |
Ncan |
A |
T |
8: 70,567,998 (GRCm39) |
M38K |
possibly damaging |
Het |
Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
Nos1 |
A |
T |
5: 118,043,527 (GRCm39) |
N601Y |
possibly damaging |
Het |
Nrxn2 |
G |
A |
19: 6,538,825 (GRCm39) |
V794I |
probably benign |
Het |
Or10q12 |
T |
A |
19: 13,746,088 (GRCm39) |
Y127* |
probably null |
Het |
Or13a17 |
T |
A |
7: 140,271,571 (GRCm39) |
V251E |
possibly damaging |
Het |
Or13c7b |
A |
T |
4: 43,820,779 (GRCm39) |
I194N |
possibly damaging |
Het |
Or2y17 |
T |
C |
11: 49,232,211 (GRCm39) |
L284P |
probably damaging |
Het |
Or8h9 |
T |
C |
2: 86,789,425 (GRCm39) |
I126V |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,886,372 (GRCm39) |
V1817A |
unknown |
Het |
Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
Ppp1r3c |
T |
C |
19: 36,711,011 (GRCm39) |
N253S |
probably damaging |
Het |
Prdm5 |
A |
G |
6: 65,808,263 (GRCm39) |
I42V |
probably benign |
Het |
Prom2 |
T |
G |
2: 127,383,017 (GRCm39) |
Q75P |
probably damaging |
Het |
Ptpn23 |
T |
C |
9: 110,217,938 (GRCm39) |
D669G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,474,407 (GRCm39) |
D245G |
probably benign |
Het |
Rpl22l1 |
T |
A |
3: 28,860,747 (GRCm39) |
|
probably null |
Het |
Sars2 |
T |
C |
7: 28,443,737 (GRCm39) |
V113A |
probably damaging |
Het |
Sbno2 |
T |
A |
10: 79,894,473 (GRCm39) |
K1067* |
probably null |
Het |
Sec61g |
A |
G |
11: 16,456,371 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
A |
T |
2: 130,529,932 (GRCm39) |
M282K |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
Sparc |
A |
T |
11: 55,297,334 (GRCm39) |
|
probably null |
Het |
Thra |
T |
A |
11: 98,646,977 (GRCm39) |
C33S |
probably damaging |
Het |
Trrap |
A |
T |
5: 144,767,761 (GRCm39) |
T2293S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,724,989 (GRCm39) |
|
probably benign |
Het |
Vat1l |
T |
A |
8: 114,998,041 (GRCm39) |
V195E |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,549 (GRCm39) |
I184F |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,825,940 (GRCm39) |
I1192T |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,446 (GRCm39) |
S737P |
possibly damaging |
Het |
Zfp553 |
A |
G |
7: 126,834,517 (GRCm39) |
E24G |
probably benign |
Het |
Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Heatr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00666:Heatr1
|
APN |
13 |
12,425,331 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00863:Heatr1
|
APN |
13 |
12,450,009 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00899:Heatr1
|
APN |
13 |
12,450,057 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01147:Heatr1
|
APN |
13 |
12,452,793 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01317:Heatr1
|
APN |
13 |
12,413,908 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01323:Heatr1
|
APN |
13 |
12,413,819 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01625:Heatr1
|
APN |
13 |
12,428,409 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01973:Heatr1
|
APN |
13 |
12,444,680 (GRCm39) |
missense |
probably benign |
|
IGL02803:Heatr1
|
APN |
13 |
12,448,867 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02830:Heatr1
|
APN |
13 |
12,441,093 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02956:Heatr1
|
APN |
13 |
12,430,940 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03000:Heatr1
|
APN |
13 |
12,449,292 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03024:Heatr1
|
APN |
13 |
12,422,390 (GRCm39) |
unclassified |
probably benign |
|
IGL03035:Heatr1
|
APN |
13 |
12,428,100 (GRCm39) |
splice site |
probably benign |
|
IGL03301:Heatr1
|
APN |
13 |
12,449,086 (GRCm39) |
missense |
probably damaging |
1.00 |
hasan
|
UTSW |
13 |
12,432,328 (GRCm39) |
splice site |
probably benign |
|
H8562:Heatr1
|
UTSW |
13 |
12,423,594 (GRCm39) |
missense |
probably benign |
0.13 |
R0226:Heatr1
|
UTSW |
13 |
12,425,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R0571:Heatr1
|
UTSW |
13 |
12,445,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R0722:Heatr1
|
UTSW |
13 |
12,420,918 (GRCm39) |
missense |
probably benign |
0.14 |
R1264:Heatr1
|
UTSW |
13 |
12,439,491 (GRCm39) |
unclassified |
probably benign |
|
R1371:Heatr1
|
UTSW |
13 |
12,432,513 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1388:Heatr1
|
UTSW |
13 |
12,432,328 (GRCm39) |
splice site |
probably benign |
|
R1396:Heatr1
|
UTSW |
13 |
12,420,927 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1519:Heatr1
|
UTSW |
13 |
12,427,040 (GRCm39) |
missense |
probably benign |
|
R1689:Heatr1
|
UTSW |
13 |
12,439,506 (GRCm39) |
missense |
probably benign |
0.00 |
R1696:Heatr1
|
UTSW |
13 |
12,438,602 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1756:Heatr1
|
UTSW |
13 |
12,411,341 (GRCm39) |
missense |
probably benign |
0.01 |
R1932:Heatr1
|
UTSW |
13 |
12,450,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Heatr1
|
UTSW |
13 |
12,411,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Heatr1
|
UTSW |
13 |
12,429,359 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2106:Heatr1
|
UTSW |
13 |
12,426,939 (GRCm39) |
missense |
probably benign |
0.03 |
R2119:Heatr1
|
UTSW |
13 |
12,447,527 (GRCm39) |
missense |
probably null |
1.00 |
R2121:Heatr1
|
UTSW |
13 |
12,418,145 (GRCm39) |
missense |
probably benign |
0.10 |
R2122:Heatr1
|
UTSW |
13 |
12,418,145 (GRCm39) |
missense |
probably benign |
0.10 |
R2367:Heatr1
|
UTSW |
13 |
12,448,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R3777:Heatr1
|
UTSW |
13 |
12,428,229 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3783:Heatr1
|
UTSW |
13 |
12,449,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R3784:Heatr1
|
UTSW |
13 |
12,449,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R3786:Heatr1
|
UTSW |
13 |
12,449,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R3787:Heatr1
|
UTSW |
13 |
12,449,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R3843:Heatr1
|
UTSW |
13 |
12,450,002 (GRCm39) |
missense |
probably benign |
0.00 |
R4533:Heatr1
|
UTSW |
13 |
12,449,392 (GRCm39) |
missense |
probably benign |
0.05 |
R4725:Heatr1
|
UTSW |
13 |
12,439,543 (GRCm39) |
nonsense |
probably null |
|
R4763:Heatr1
|
UTSW |
13 |
12,445,811 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4793:Heatr1
|
UTSW |
13 |
12,446,718 (GRCm39) |
missense |
probably benign |
0.00 |
R4797:Heatr1
|
UTSW |
13 |
12,426,929 (GRCm39) |
missense |
probably benign |
0.36 |
R4798:Heatr1
|
UTSW |
13 |
12,426,929 (GRCm39) |
missense |
probably benign |
0.36 |
R4942:Heatr1
|
UTSW |
13 |
12,428,391 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4952:Heatr1
|
UTSW |
13 |
12,425,480 (GRCm39) |
missense |
probably benign |
0.38 |
R4954:Heatr1
|
UTSW |
13 |
12,422,397 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5370:Heatr1
|
UTSW |
13 |
12,416,403 (GRCm39) |
missense |
probably benign |
0.02 |
R5464:Heatr1
|
UTSW |
13 |
12,448,524 (GRCm39) |
missense |
probably benign |
0.00 |
R5483:Heatr1
|
UTSW |
13 |
12,413,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R5497:Heatr1
|
UTSW |
13 |
12,435,945 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5504:Heatr1
|
UTSW |
13 |
12,421,500 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5527:Heatr1
|
UTSW |
13 |
12,419,829 (GRCm39) |
missense |
probably benign |
|
R5527:Heatr1
|
UTSW |
13 |
12,417,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5836:Heatr1
|
UTSW |
13 |
12,423,617 (GRCm39) |
missense |
probably damaging |
0.99 |
R5916:Heatr1
|
UTSW |
13 |
12,449,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R6018:Heatr1
|
UTSW |
13 |
12,420,939 (GRCm39) |
missense |
probably benign |
0.26 |
R6018:Heatr1
|
UTSW |
13 |
12,419,828 (GRCm39) |
missense |
probably benign |
|
R6216:Heatr1
|
UTSW |
13 |
12,447,545 (GRCm39) |
missense |
probably benign |
0.16 |
R6396:Heatr1
|
UTSW |
13 |
12,420,978 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6472:Heatr1
|
UTSW |
13 |
12,449,111 (GRCm39) |
missense |
probably benign |
0.29 |
R6922:Heatr1
|
UTSW |
13 |
12,449,956 (GRCm39) |
missense |
probably benign |
0.00 |
R7077:Heatr1
|
UTSW |
13 |
12,433,045 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7297:Heatr1
|
UTSW |
13 |
12,435,941 (GRCm39) |
nonsense |
probably null |
|
R7445:Heatr1
|
UTSW |
13 |
12,445,919 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7669:Heatr1
|
UTSW |
13 |
12,426,143 (GRCm39) |
missense |
probably benign |
0.33 |
R7672:Heatr1
|
UTSW |
13 |
12,453,545 (GRCm39) |
missense |
probably damaging |
0.96 |
R7772:Heatr1
|
UTSW |
13 |
12,432,522 (GRCm39) |
missense |
probably benign |
0.03 |
R8205:Heatr1
|
UTSW |
13 |
12,430,928 (GRCm39) |
missense |
probably benign |
|
R8518:Heatr1
|
UTSW |
13 |
12,425,415 (GRCm39) |
missense |
probably benign |
|
R8754:Heatr1
|
UTSW |
13 |
12,428,175 (GRCm39) |
missense |
probably damaging |
0.99 |
R8874:Heatr1
|
UTSW |
13 |
12,445,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R8992:Heatr1
|
UTSW |
13 |
12,415,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R9045:Heatr1
|
UTSW |
13 |
12,428,233 (GRCm39) |
missense |
probably benign |
0.00 |
R9077:Heatr1
|
UTSW |
13 |
12,428,247 (GRCm39) |
missense |
probably benign |
|
R9183:Heatr1
|
UTSW |
13 |
12,436,266 (GRCm39) |
missense |
probably damaging |
0.99 |
R9186:Heatr1
|
UTSW |
13 |
12,436,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R9223:Heatr1
|
UTSW |
13 |
12,419,802 (GRCm39) |
missense |
probably benign |
0.00 |
R9242:Heatr1
|
UTSW |
13 |
12,448,806 (GRCm39) |
missense |
probably benign |
|
R9267:Heatr1
|
UTSW |
13 |
12,421,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R9289:Heatr1
|
UTSW |
13 |
12,447,608 (GRCm39) |
missense |
probably benign |
0.13 |
R9310:Heatr1
|
UTSW |
13 |
12,453,491 (GRCm39) |
missense |
probably benign |
|
R9312:Heatr1
|
UTSW |
13 |
12,446,565 (GRCm39) |
missense |
probably benign |
|
R9358:Heatr1
|
UTSW |
13 |
12,433,087 (GRCm39) |
missense |
probably benign |
0.09 |
R9385:Heatr1
|
UTSW |
13 |
12,421,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R9530:Heatr1
|
UTSW |
13 |
12,439,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R9532:Heatr1
|
UTSW |
13 |
12,429,306 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9647:Heatr1
|
UTSW |
13 |
12,441,679 (GRCm39) |
missense |
probably benign |
0.00 |
R9683:Heatr1
|
UTSW |
13 |
12,449,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Heatr1
|
UTSW |
13 |
12,438,624 (GRCm39) |
missense |
probably damaging |
1.00 |
RF011:Heatr1
|
UTSW |
13 |
12,422,425 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Heatr1
|
UTSW |
13 |
12,413,889 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAAGCCAGAGAACCTTGG -3'
(R):5'- GCGTCCCACTTGAAGATAATTGAC -3'
Sequencing Primer
(F):5'- TTAGAGGCCAGTAAAGTACGTATTG -3'
(R):5'- TGACAGGAAGCTTTCAGACTC -3'
|
Posted On |
2014-06-23 |