Incidental Mutation 'R0571:Heatr1'
| ID |
46481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heatr1
|
| Ensembl Gene |
ENSMUSG00000050244 |
| Gene Name |
HEAT repeat containing 1 |
| Synonyms |
B130016L12Rik |
| MMRRC Submission |
038762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R0571 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
12410256-12453774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 12445121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1581
(S1581R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059270]
|
| AlphaFold |
G3X9B1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059270
AA Change: S1581R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: S1581R
| 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 |
noncoding transcript
Transcript: ENSMUST00000221051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221839
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222091
AA Change: S181R
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
C |
T |
14: 54,500,706 (GRCm39) |
T165I |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,277,343 (GRCm39) |
|
probably benign |
Het |
| Actl6b |
C |
A |
5: 137,565,046 (GRCm39) |
|
probably benign |
Het |
| Atg13 |
T |
C |
2: 91,509,063 (GRCm39) |
|
probably benign |
Het |
| Cabyr |
A |
G |
18: 12,883,909 (GRCm39) |
E132G |
probably damaging |
Het |
| Cadps2 |
C |
T |
6: 23,583,411 (GRCm39) |
V389I |
probably damaging |
Het |
| Capn2 |
C |
T |
1: 182,298,325 (GRCm39) |
V647I |
probably benign |
Het |
| Card10 |
G |
T |
15: 78,671,601 (GRCm39) |
P621Q |
possibly damaging |
Het |
| Catsperb |
C |
G |
12: 101,569,033 (GRCm39) |
H902D |
possibly damaging |
Het |
| Cers3 |
A |
G |
7: 66,435,805 (GRCm39) |
M255V |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,030,071 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
C |
11: 69,252,495 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
G |
T |
5: 24,795,425 (GRCm39) |
R316L |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,713,550 (GRCm39) |
N694Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,289,277 (GRCm39) |
D2909G |
unknown |
Het |
| Ctbp2 |
G |
A |
7: 132,616,534 (GRCm39) |
L44F |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,381,102 (GRCm39) |
M1365V |
probably benign |
Het |
| D130052B06Rik |
G |
A |
11: 33,573,922 (GRCm39) |
R173H |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,203 (GRCm39) |
F406L |
probably damaging |
Het |
| Ddx43 |
T |
A |
9: 78,321,145 (GRCm39) |
N384K |
possibly damaging |
Het |
| Drd5 |
G |
A |
5: 38,477,270 (GRCm39) |
V88M |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,274,881 (GRCm39) |
F361Y |
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,717,215 (GRCm39) |
D313G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,748,580 (GRCm39) |
M104T |
probably damaging |
Het |
| Fabp7 |
A |
T |
10: 57,661,637 (GRCm39) |
T37S |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,184,834 (GRCm39) |
T30A |
probably benign |
Het |
| Fam83d |
G |
A |
2: 158,627,611 (GRCm39) |
W433* |
probably null |
Het |
| Fmnl2 |
A |
T |
2: 52,944,503 (GRCm39) |
T161S |
probably benign |
Het |
| Ghsr |
C |
T |
3: 27,426,165 (GRCm39) |
R74C |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,722 (GRCm39) |
|
probably benign |
Het |
| Hamp2 |
A |
G |
7: 30,623,511 (GRCm39) |
L17P |
possibly damaging |
Het |
| Hpf1 |
T |
C |
8: 61,353,147 (GRCm39) |
V176A |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,240,735 (GRCm39) |
|
probably null |
Het |
| Ighg2c |
G |
A |
12: 113,252,382 (GRCm39) |
Q57* |
probably null |
Het |
| Itgb4 |
A |
G |
11: 115,870,594 (GRCm39) |
N141S |
possibly damaging |
Het |
| Kif13b |
G |
T |
14: 64,988,977 (GRCm39) |
R786L |
probably damaging |
Het |
| Lhx3 |
C |
A |
2: 26,091,136 (GRCm39) |
W391L |
probably damaging |
Het |
| Map1s |
T |
A |
8: 71,365,551 (GRCm39) |
V152D |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,865,834 (GRCm39) |
M608T |
probably benign |
Het |
| Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
| Mfn1 |
T |
C |
3: 32,615,621 (GRCm39) |
I328T |
probably damaging |
Het |
| Mif-ps9 |
G |
A |
19: 56,743,675 (GRCm39) |
|
noncoding transcript |
Het |
| Myh4 |
A |
T |
11: 67,141,157 (GRCm39) |
I740F |
possibly damaging |
Het |
| Neo1 |
A |
G |
9: 58,893,069 (GRCm39) |
V191A |
probably benign |
Het |
| Nfatc4 |
T |
C |
14: 56,067,485 (GRCm39) |
V565A |
probably damaging |
Het |
| Nrxn2 |
G |
C |
19: 6,523,563 (GRCm39) |
E525D |
probably damaging |
Het |
| Or12k8 |
T |
C |
2: 36,975,346 (GRCm39) |
H138R |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,261 (GRCm39) |
D469V |
probably damaging |
Het |
| Pcdhb6 |
G |
T |
18: 37,468,167 (GRCm39) |
V363L |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,808,957 (GRCm39) |
T78A |
probably benign |
Het |
| Primpol |
T |
G |
8: 47,034,674 (GRCm39) |
D418A |
probably damaging |
Het |
| Rbm12b1 |
G |
A |
4: 12,146,248 (GRCm39) |
S740N |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,305,986 (GRCm39) |
L15P |
probably damaging |
Het |
| Rxrb |
CGCGGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGCGGC |
17: 34,251,106 (GRCm39) |
|
probably benign |
Het |
| Sectm1a |
A |
G |
11: 120,959,928 (GRCm39) |
|
probably benign |
Het |
| Sft2d1 |
C |
A |
17: 8,545,782 (GRCm39) |
|
probably benign |
Het |
| Slc22a18 |
A |
G |
7: 143,045,598 (GRCm39) |
|
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,332,405 (GRCm39) |
|
probably null |
Het |
| Smc4 |
T |
C |
3: 68,931,622 (GRCm39) |
V572A |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,080,855 (GRCm39) |
I33N |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,458,403 (GRCm39) |
C678S |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,797,539 (GRCm39) |
V1362A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,570,326 (GRCm39) |
K25110E |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,148,793 (GRCm39) |
S15G |
possibly damaging |
Het |
| Upf3a |
T |
A |
8: 13,842,184 (GRCm39) |
I200K |
probably damaging |
Het |
| Vill |
G |
C |
9: 118,899,701 (GRCm39) |
G295A |
possibly damaging |
Het |
| Vmn1r191 |
A |
T |
13: 22,363,217 (GRCm39) |
V179D |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,629 (GRCm39) |
T670A |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,643,166 (GRCm39) |
T654A |
possibly damaging |
Het |
| Zfp646 |
A |
G |
7: 127,481,138 (GRCm39) |
E1105G |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,117,239 (GRCm39) |
Y334N |
probably damaging |
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 |
|
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 |
|
R1859:Heatr1
|
UTSW |
13 |
12,418,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGTTTTCCAGGCAGGATAACCAGTG -3'
(R):5'- CCTGAGGTGGCAGACATTTCCATAC -3'
Sequencing Primer
(F):5'- AGTGCTGACCCGTCCTC -3'
(R):5'- GGCCATGTCCTAATTTCAAGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation