Incidental Mutation 'R2119:Heatr1'
ID |
231312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr1
|
Ensembl Gene |
ENSMUSG00000050244 |
Gene Name |
HEAT repeat containing 1 |
Synonyms |
B130016L12Rik |
MMRRC Submission |
040123-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R2119 (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 A
at 12447527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1740
(L1740Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059270]
|
AlphaFold |
G3X9B1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000059270
AA Change: L1740Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054084 Gene: ENSMUSG00000050244 AA Change: L1740Q
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 |
probably damaging
Transcript: ENSMUST00000222091
AA Change: L340Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
A |
4: 62,457,109 (GRCm39) |
L143M |
possibly damaging |
Het |
Actbl2 |
G |
A |
13: 111,391,694 (GRCm39) |
V10I |
probably benign |
Het |
Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
Aifm2 |
G |
A |
10: 61,571,383 (GRCm39) |
V306M |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,866,514 (GRCm39) |
K208E |
probably benign |
Het |
Atxn7l3 |
C |
A |
11: 102,182,807 (GRCm39) |
R278L |
possibly damaging |
Het |
Bcl9 |
A |
G |
3: 97,116,231 (GRCm39) |
L821P |
probably benign |
Het |
Cdh19 |
C |
T |
1: 110,847,320 (GRCm39) |
V430I |
probably benign |
Het |
Clns1a |
T |
A |
7: 97,363,111 (GRCm39) |
|
probably null |
Het |
Col3a1 |
T |
A |
1: 45,385,281 (GRCm39) |
C133S |
probably damaging |
Het |
Csmd1 |
G |
A |
8: 17,266,749 (GRCm39) |
T59I |
probably damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
Cyp2j8 |
A |
T |
4: 96,395,438 (GRCm39) |
D62E |
probably benign |
Het |
Dcbld1 |
A |
T |
10: 52,196,075 (GRCm39) |
M428L |
probably benign |
Het |
Dhx32 |
A |
T |
7: 133,323,976 (GRCm39) |
Y523* |
probably null |
Het |
Dlgap2 |
C |
T |
8: 14,828,206 (GRCm39) |
A538V |
possibly damaging |
Het |
Dlgap3 |
T |
C |
4: 127,129,982 (GRCm39) |
S919P |
probably benign |
Het |
Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
Dsc1 |
A |
T |
18: 20,243,209 (GRCm39) |
H81Q |
probably benign |
Het |
Dusp8 |
A |
T |
7: 141,636,298 (GRCm39) |
S431T |
possibly damaging |
Het |
Dync1i1 |
A |
T |
6: 5,767,096 (GRCm39) |
T59S |
probably damaging |
Het |
Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
Ednrb |
T |
A |
14: 104,059,204 (GRCm39) |
D274V |
probably benign |
Het |
Eef1d |
G |
T |
15: 75,775,062 (GRCm39) |
A199E |
probably benign |
Het |
Eml3 |
T |
A |
19: 8,911,718 (GRCm39) |
|
probably null |
Het |
Enah |
G |
T |
1: 181,749,318 (GRCm39) |
A138E |
probably damaging |
Het |
Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
Gba1 |
A |
T |
3: 89,112,868 (GRCm39) |
E170V |
probably benign |
Het |
Hdac1 |
C |
T |
4: 129,416,157 (GRCm39) |
R212Q |
probably benign |
Het |
Inhbb |
T |
A |
1: 119,348,431 (GRCm39) |
H129L |
probably benign |
Het |
Inpp5b |
T |
A |
4: 124,691,662 (GRCm39) |
H862Q |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,757,025 (GRCm39) |
R1372S |
probably benign |
Het |
Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
Klk1b21 |
A |
T |
7: 43,755,193 (GRCm39) |
T163S |
probably benign |
Het |
Lmo3 |
A |
T |
6: 138,393,492 (GRCm39) |
C43S |
probably damaging |
Het |
Metrn |
C |
T |
17: 26,014,197 (GRCm39) |
V210I |
probably benign |
Het |
Ndufaf7 |
A |
T |
17: 79,252,442 (GRCm39) |
I284F |
possibly damaging |
Het |
Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
Or10a5 |
A |
G |
7: 106,635,938 (GRCm39) |
D192G |
probably damaging |
Het |
Osbpl7 |
T |
C |
11: 96,946,905 (GRCm39) |
S403P |
probably benign |
Het |
Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
Reln |
T |
A |
5: 22,223,998 (GRCm39) |
E917V |
probably damaging |
Het |
Rfc4 |
A |
T |
16: 22,943,314 (GRCm39) |
V61E |
probably damaging |
Het |
Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
Rtn4ip1 |
A |
G |
10: 43,811,993 (GRCm39) |
|
probably null |
Het |
Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
Serhl |
A |
G |
15: 82,999,776 (GRCm39) |
Q252R |
probably benign |
Het |
Sestd1 |
T |
C |
2: 77,042,867 (GRCm39) |
D229G |
probably benign |
Het |
Slc35g1 |
T |
C |
19: 38,391,735 (GRCm39) |
V339A |
probably benign |
Het |
Slc9b2 |
T |
A |
3: 135,034,743 (GRCm39) |
|
probably null |
Het |
Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Tep1 |
T |
G |
14: 51,076,443 (GRCm39) |
K1664Q |
probably benign |
Het |
Tmod2 |
T |
C |
9: 75,493,377 (GRCm39) |
K193E |
possibly damaging |
Het |
Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
Ttc5 |
A |
T |
14: 51,012,822 (GRCm39) |
Y189N |
probably damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,484,430 (GRCm39) |
M198K |
probably damaging |
Het |
Uox |
A |
G |
3: 146,318,297 (GRCm39) |
H66R |
probably benign |
Het |
Usp9y |
A |
T |
Y: 1,303,451 (GRCm39) |
D2487E |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,740,311 (GRCm39) |
G205R |
probably damaging |
Het |
Vps11 |
T |
C |
9: 44,260,294 (GRCm39) |
D856G |
probably benign |
Het |
Zdhhc17 |
T |
C |
10: 110,817,909 (GRCm39) |
N90D |
possibly damaging |
Het |
Zfp105 |
T |
A |
9: 122,758,743 (GRCm39) |
L138* |
probably null |
Het |
Zfp28 |
A |
G |
7: 6,397,875 (GRCm39) |
Y770C |
probably benign |
Het |
Zfp655 |
T |
A |
5: 145,181,594 (GRCm39) |
L484Q |
probably damaging |
Het |
Zfp868 |
C |
A |
8: 70,064,646 (GRCm39) |
E230* |
probably null |
Het |
Zfpm2 |
A |
G |
15: 40,966,419 (GRCm39) |
Y836C |
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 |
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 |
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 |
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'- TCAGCACTGTTGGCACCAAG -3'
(R):5'- GACTGAGGGGTGAAACTGTC -3'
Sequencing Primer
(F):5'- GCATACTGTGGGTTACAG -3'
(R):5'- TGAAACTGTCCCCCTGGC -3'
|
Posted On |
2014-09-18 |