Incidental Mutation 'R8992:Heatr1'
ID |
684498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr1
|
Ensembl Gene |
ENSMUSG00000050244 |
Gene Name |
HEAT repeat containing 1 |
Synonyms |
B130016L12Rik |
MMRRC Submission |
068823-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R8992 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
12410256-12453774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12415995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 189
(M189T)
|
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: M189T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000054084 Gene: ENSMUSG00000050244 AA Change: M189T
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 |
probably damaging
Transcript: ENSMUST00000221046
AA Change: M189T
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.6302 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14b |
A |
G |
9: 106,328,817 (GRCm39) |
D146G |
probably benign |
Het |
Abhd6 |
T |
A |
14: 8,028,282 (GRCm38) |
D4E |
probably benign |
Het |
Atp5if1 |
T |
C |
4: 132,260,685 (GRCm39) |
D34G |
probably benign |
Het |
Bcr |
T |
C |
10: 74,967,404 (GRCm39) |
F546S |
probably damaging |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc141 |
A |
T |
2: 76,844,739 (GRCm39) |
W1443R |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,839,589 (GRCm39) |
D1375G |
probably damaging |
Het |
Chi3l1 |
A |
T |
1: 134,115,662 (GRCm39) |
Q223H |
probably benign |
Het |
Clcn2 |
A |
T |
16: 20,531,080 (GRCm39) |
F260I |
probably damaging |
Het |
Cpq |
A |
T |
15: 33,594,381 (GRCm39) |
D464V |
probably benign |
Het |
Crygb |
T |
C |
1: 65,121,300 (GRCm39) |
D9G |
probably damaging |
Het |
Cyp2b10 |
A |
G |
7: 25,624,815 (GRCm39) |
K438E |
unknown |
Het |
Cyp46a1 |
A |
T |
12: 108,324,366 (GRCm39) |
D381V |
possibly damaging |
Het |
Dhx40 |
A |
C |
11: 86,667,582 (GRCm39) |
|
probably benign |
Het |
Dnase2b |
G |
T |
3: 146,292,717 (GRCm39) |
P152Q |
probably damaging |
Het |
Duox1 |
A |
T |
2: 122,175,186 (GRCm39) |
H1328L |
probably damaging |
Het |
Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
Fam168b |
A |
G |
1: 34,858,862 (GRCm39) |
F102L |
probably benign |
Het |
Fam3b |
T |
A |
16: 97,277,594 (GRCm39) |
D128V |
probably damaging |
Het |
Galnt11 |
T |
G |
5: 25,469,983 (GRCm39) |
H527Q |
possibly damaging |
Het |
Gbp2b |
A |
T |
3: 142,316,730 (GRCm39) |
R460S |
probably benign |
Het |
Hdhd2 |
A |
C |
18: 77,058,366 (GRCm39) |
S246R |
possibly damaging |
Het |
Ift70a1 |
A |
T |
2: 75,810,251 (GRCm39) |
C611S |
probably benign |
Het |
Ino80 |
A |
G |
2: 119,210,059 (GRCm39) |
S1411P |
possibly damaging |
Het |
Jakmip1 |
A |
G |
5: 37,274,882 (GRCm39) |
T467A |
probably benign |
Het |
Kcnh2 |
A |
G |
5: 24,536,868 (GRCm39) |
S239P |
probably benign |
Het |
Lct |
T |
A |
1: 128,228,299 (GRCm39) |
T1065S |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,787,227 (GRCm39) |
D41G |
probably benign |
Het |
Mfsd2b |
A |
T |
12: 4,921,490 (GRCm39) |
D26E |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,096,607 (GRCm39) |
M333L |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,798,958 (GRCm39) |
V855A |
possibly damaging |
Het |
Nfkb2 |
T |
A |
19: 46,295,304 (GRCm39) |
V80D |
probably damaging |
Het |
Nop9 |
T |
C |
14: 55,983,438 (GRCm39) |
S70P |
possibly damaging |
Het |
Or2t46 |
A |
G |
11: 58,471,738 (GRCm39) |
S23G |
probably benign |
Het |
Pcdhb14 |
G |
T |
18: 37,582,231 (GRCm39) |
D446Y |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
Pdgfa |
G |
T |
5: 138,971,977 (GRCm39) |
Q141K |
probably damaging |
Het |
Plekhh1 |
G |
T |
12: 79,122,307 (GRCm39) |
L1133F |
probably damaging |
Het |
Pole |
A |
T |
5: 110,471,488 (GRCm39) |
N1411Y |
possibly damaging |
Het |
Primpol |
A |
G |
8: 47,034,597 (GRCm39) |
|
probably benign |
Het |
Psmc5 |
T |
G |
11: 106,152,787 (GRCm39) |
V203G |
probably damaging |
Het |
Ptgdr |
C |
T |
14: 45,096,181 (GRCm39) |
C177Y |
probably damaging |
Het |
Ptgir |
A |
T |
7: 16,641,220 (GRCm39) |
I171F |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,154,170 (GRCm38) |
H630Q |
probably benign |
Het |
Ptrh2 |
A |
G |
11: 86,580,907 (GRCm39) |
T175A |
possibly damaging |
Het |
Ralgapb |
A |
G |
2: 158,296,197 (GRCm39) |
T857A |
probably damaging |
Het |
Rnf24 |
A |
G |
2: 131,155,197 (GRCm39) |
F10S |
possibly damaging |
Het |
Rreb1 |
C |
A |
13: 38,114,352 (GRCm39) |
S570R |
probably benign |
Het |
Rttn |
A |
G |
18: 88,995,832 (GRCm39) |
N205S |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,999,365 (GRCm39) |
E139G |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,594,242 (GRCm39) |
N1697S |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,974,907 (GRCm39) |
M209L |
probably damaging |
Het |
Shank3 |
A |
G |
15: 89,432,888 (GRCm39) |
D1211G |
possibly damaging |
Het |
Slc22a12 |
C |
A |
19: 6,592,514 (GRCm39) |
R90L |
possibly damaging |
Het |
Slc6a13 |
G |
A |
6: 121,313,901 (GRCm39) |
W548* |
probably null |
Het |
Srfbp1 |
T |
A |
18: 52,609,392 (GRCm39) |
L59* |
probably null |
Het |
Ss18 |
A |
T |
18: 14,803,380 (GRCm39) |
S73T |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,135,508 (GRCm39) |
K189R |
probably benign |
Het |
Szt2 |
G |
T |
4: 118,239,985 (GRCm39) |
|
probably benign |
Het |
Tbx1 |
T |
A |
16: 18,402,937 (GRCm39) |
H183L |
probably damaging |
Het |
Thop1 |
A |
G |
10: 80,915,972 (GRCm39) |
E385G |
possibly damaging |
Het |
Tmem168 |
C |
A |
6: 13,602,849 (GRCm39) |
M172I |
possibly damaging |
Het |
Tmem67 |
A |
G |
4: 12,058,559 (GRCm39) |
Y513H |
probably damaging |
Het |
Top1 |
A |
G |
2: 160,562,921 (GRCm39) |
D709G |
probably damaging |
Het |
Tprg1l |
A |
C |
4: 154,242,890 (GRCm39) |
S247A |
probably damaging |
Het |
Trim46 |
A |
G |
3: 89,143,692 (GRCm39) |
S602P |
probably damaging |
Het |
Ttc7b |
T |
C |
12: 100,466,433 (GRCm39) |
K60E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,714,815 (GRCm39) |
S8053F |
unknown |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,234,762 (GRCm39) |
H956Q |
probably benign |
Het |
Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
Xpc |
G |
A |
6: 91,477,956 (GRCm39) |
T309I |
possibly damaging |
Het |
Zfp560 |
C |
T |
9: 20,260,895 (GRCm39) |
M129I |
probably benign |
Het |
Zpld2 |
G |
A |
4: 133,929,978 (GRCm39) |
T109I |
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 |
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 |
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'- TTGTCACCTGCTCTTTGGAG -3'
(R):5'- CACTATAGCTGGAATTTGACAACC -3'
Sequencing Primer
(F):5'- CACCTGCTCTTTGGAGTTTCTAAGG -3'
(R):5'- AGCTGGAATTTGACAACCAATAG -3'
|
Posted On |
2021-10-11 |