Incidental Mutation 'R2106:Heatr1'
ID |
231002 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heatr1
|
Ensembl Gene |
ENSMUSG00000050244 |
Gene Name |
HEAT repeat containing 1 |
Synonyms |
B130016L12Rik |
MMRRC Submission |
040110-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R2106 (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 12426939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 688
(V688A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059270]
|
AlphaFold |
G3X9B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059270
AA Change: V688A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000054084 Gene: ENSMUSG00000050244 AA Change: V688A
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: ENSMUST00000221746
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl2 |
T |
C |
2: 26,992,837 (GRCm39) |
F650S |
probably benign |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
Ankrd61 |
A |
T |
5: 143,828,564 (GRCm39) |
L95Q |
probably damaging |
Het |
Atp11a |
A |
G |
8: 12,885,228 (GRCm39) |
T22A |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
Ccdc40 |
G |
T |
11: 119,155,123 (GRCm39) |
R1121L |
probably damaging |
Het |
Cdhr4 |
A |
C |
9: 107,874,693 (GRCm39) |
S588R |
possibly damaging |
Het |
Cfap69 |
T |
C |
5: 5,645,979 (GRCm39) |
N517D |
probably benign |
Het |
Chrm2 |
T |
C |
6: 36,500,382 (GRCm39) |
Y80H |
probably damaging |
Het |
Cimip2a |
A |
G |
2: 25,110,663 (GRCm39) |
Y157C |
probably damaging |
Het |
Csgalnact2 |
G |
T |
6: 118,086,090 (GRCm39) |
Y534* |
probably null |
Het |
Defb35 |
A |
G |
8: 22,430,809 (GRCm39) |
E61G |
unknown |
Het |
Dhx15 |
A |
T |
5: 52,327,428 (GRCm39) |
D95E |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,582,792 (GRCm39) |
V271A |
probably damaging |
Het |
Dlg1 |
T |
C |
16: 31,631,574 (GRCm39) |
S444P |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,825,686 (GRCm39) |
N406K |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,810,230 (GRCm39) |
|
probably benign |
Het |
Epb41 |
A |
G |
4: 131,717,152 (GRCm39) |
I56T |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,034,578 (GRCm39) |
Y1442* |
probably null |
Het |
Fat2 |
T |
C |
11: 55,147,390 (GRCm39) |
T3951A |
probably benign |
Het |
Fryl |
A |
G |
5: 73,255,674 (GRCm39) |
S786P |
probably damaging |
Het |
Fyb2 |
A |
G |
4: 104,802,769 (GRCm39) |
T224A |
probably benign |
Het |
Ginm1 |
A |
T |
10: 7,651,090 (GRCm39) |
F105L |
probably damaging |
Het |
Hnmt |
T |
G |
2: 23,909,130 (GRCm39) |
Q94H |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,753,741 (GRCm39) |
Y782H |
probably benign |
Het |
Immt |
T |
C |
6: 71,848,499 (GRCm39) |
V418A |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
Krt84 |
T |
C |
15: 101,439,301 (GRCm39) |
N248D |
probably damaging |
Het |
Lig1 |
C |
A |
7: 13,039,863 (GRCm39) |
R692S |
probably damaging |
Het |
Lvrn |
G |
T |
18: 47,011,356 (GRCm39) |
A438S |
probably damaging |
Het |
Mast4 |
C |
T |
13: 102,887,054 (GRCm39) |
V1204I |
probably damaging |
Het |
Med21 |
G |
T |
6: 146,550,710 (GRCm39) |
D74Y |
probably damaging |
Het |
Nat8 |
T |
C |
6: 85,807,506 (GRCm39) |
D209G |
probably benign |
Het |
Nipal1 |
C |
A |
5: 72,820,902 (GRCm39) |
F132L |
probably damaging |
Het |
Npr2 |
A |
T |
4: 43,644,329 (GRCm39) |
I613F |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,617,073 (GRCm39) |
T706A |
probably benign |
Het |
Or5w1b |
A |
G |
2: 87,475,895 (GRCm39) |
S191P |
probably damaging |
Het |
Or8w1 |
T |
C |
2: 87,465,503 (GRCm39) |
E196G |
probably benign |
Het |
Pam |
A |
G |
1: 97,759,215 (GRCm39) |
V823A |
probably damaging |
Het |
Pdik1l |
A |
T |
4: 134,011,565 (GRCm39) |
Y93N |
probably damaging |
Het |
Perm1 |
T |
C |
4: 156,303,336 (GRCm39) |
W627R |
probably damaging |
Het |
Pofut1 |
G |
A |
2: 153,101,713 (GRCm39) |
|
probably null |
Het |
Prmt5 |
T |
C |
14: 54,745,374 (GRCm39) |
I598V |
probably benign |
Het |
Rab11fip5 |
T |
C |
6: 85,351,369 (GRCm39) |
I48V |
probably damaging |
Het |
Rad51d |
T |
A |
11: 82,770,134 (GRCm39) |
K261N |
probably damaging |
Het |
Rapgef6 |
T |
G |
11: 54,559,512 (GRCm39) |
I1050S |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,468,474 (GRCm39) |
E4688G |
probably damaging |
Het |
Siva1 |
G |
T |
12: 112,613,440 (GRCm39) |
R96L |
probably damaging |
Het |
Slc13a4 |
T |
C |
6: 35,264,799 (GRCm39) |
N140S |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,028,542 (GRCm39) |
D342V |
probably damaging |
Het |
Slfn9 |
A |
G |
11: 82,878,506 (GRCm39) |
S208P |
possibly damaging |
Het |
Sspo |
C |
A |
6: 48,443,250 (GRCm39) |
T1899N |
possibly damaging |
Het |
Sytl1 |
T |
C |
4: 132,984,774 (GRCm39) |
D200G |
probably benign |
Het |
Tas2r118 |
T |
C |
6: 23,969,569 (GRCm39) |
N164S |
probably benign |
Het |
Tbc1d17 |
A |
G |
7: 44,497,692 (GRCm39) |
|
probably null |
Het |
Tex14 |
T |
C |
11: 87,377,076 (GRCm39) |
M140T |
possibly damaging |
Het |
Tm6sf2 |
T |
C |
8: 70,532,396 (GRCm39) |
F352S |
probably benign |
Het |
Tmem88 |
A |
G |
11: 69,288,685 (GRCm39) |
L78P |
probably benign |
Het |
Trafd1 |
A |
G |
5: 121,511,274 (GRCm39) |
S515P |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,790,714 (GRCm39) |
E583V |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,547,342 (GRCm39) |
C91R |
probably damaging |
Het |
Ubap1l |
T |
C |
9: 65,281,089 (GRCm39) |
S256P |
probably benign |
Het |
Vmn1r26 |
T |
G |
6: 57,985,710 (GRCm39) |
S160R |
possibly damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,168,100 (GRCm39) |
S785G |
probably damaging |
Het |
Wdr27 |
T |
G |
17: 15,141,116 (GRCm39) |
R278S |
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,911,109 (GRCm39) |
S834P |
probably damaging |
Het |
Zdhhc12 |
C |
T |
2: 29,981,814 (GRCm39) |
C116Y |
probably damaging |
Het |
Zfp946 |
T |
C |
17: 22,672,466 (GRCm39) |
F22L |
probably benign |
Het |
Zfp948 |
G |
T |
17: 21,807,953 (GRCm39) |
E382* |
probably null |
Het |
Zfp956 |
T |
A |
6: 47,941,359 (GRCm39) |
*573K |
probably null |
Het |
Zim1 |
T |
G |
7: 6,681,073 (GRCm39) |
T197P |
probably benign |
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 |
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'- GGTCTGTGGGTTAAATGCATAAAC -3'
(R):5'- GTGACCATCAGACCACAGTG -3'
Sequencing Primer
(F):5'- CTGTGGGTTAAATGCATAAACTTGTC -3'
(R):5'- GACCACAGTGTTATTTTACCCAAC -3'
|
Posted On |
2014-09-18 |