Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01973:Heatr1'

182576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL01973

Quality Score

Status

Chromosome

Chromosomal Location

12395027-12440289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12429799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1543 (H1543Q)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059270]

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: H1543Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: H1543Q

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: H143Q

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,011,171	W59R	probably damaging	Het
Adam17	C	T	12: 21,349,943	R154K	probably damaging	Het
Atp9b	A	T	18: 80,758,303	F791I	probably benign	Het
Atr	T	G	9: 95,871,674	S776R	probably damaging	Het
AW554918	A	T	18: 25,419,999	T487S	probably damaging	Het
Bckdhb	T	A	9: 83,991,736	F217Y	probably benign	Het
Cacna1i	G	A	15: 80,382,033	A1574T	probably damaging	Het
Ccdc150	G	A	1: 54,300,488		probably null	Het
Clca4c-ps	A	T	3: 144,879,832		noncoding transcript	Het
Clec4a1	T	C	6: 122,930,721	S123P	probably damaging	Het
Col6a4	T	C	9: 106,062,894	Y1279C	probably damaging	Het
Cox8c	T	A	12: 102,899,367	M1K	probably null	Het
Crat	G	T	2: 30,405,481	S370Y	probably damaging	Het
Cts7	A	T	13: 61,355,600	D183E	probably benign	Het
Cyp1a2	C	A	9: 57,682,395	W45C	probably damaging	Het
Eml5	T	A	12: 98,863,280	I492L	probably benign	Het
Fbxl4	T	G	4: 22,422,766	L456R	probably damaging	Het
Flt1	G	T	5: 147,683,889	H148Q	probably benign	Het
Galnt3	T	C	2: 66,084,262	M604V	probably benign	Het
Gatb	T	C	3: 85,611,424	V279A	probably damaging	Het
Gm6904	A	G	14: 59,251,129	V73A	probably benign	Het
Gm996	G	T	2: 25,579,572	S109*	probably null	Het
Ighg2b	C	T	12: 113,307,685	V83I	unknown	Het
Jcad	A	G	18: 4,675,514	Q1092R	probably benign	Het
Kirrel3	A	G	9: 35,016,468	E6G	probably damaging	Het
Klhl22	A	G	16: 17,792,711	S609G	probably benign	Het
Kntc1	A	G	5: 123,765,958	Y346C	probably damaging	Het
Maneal	T	C	4: 124,859,155	D233G	probably benign	Het
Mcm3ap	T	C	10: 76,471,117	S355P	probably benign	Het
Mettl11b	A	G	1: 163,717,120	I98T	probably benign	Het
Mtus2	C	T	5: 148,303,476		probably benign	Het
Muc4	A	G	16: 32,754,265	T1380A	probably benign	Het
Nedd4	T	A	9: 72,736,934	M661K	possibly damaging	Het
Nomo1	T	C	7: 46,083,227		probably benign	Het
Ntsr2	T	A	12: 16,656,774	W268R	probably benign	Het
Nup188	A	C	2: 30,339,850	Q1360P	possibly damaging	Het
Olfr15	A	T	16: 3,839,777	Q268L	probably damaging	Het
Olfr231	A	G	1: 174,117,533	F161S	probably damaging	Het
Pabpc1	A	T	15: 36,599,275	V392E	probably benign	Het
Pcdhb11	C	A	18: 37,423,512	R632S	probably damaging	Het
Pnpla6	T	A	8: 3,517,619	M87K	probably damaging	Het
Prkd1	C	T	12: 50,366,379	G670R	probably damaging	Het
Raf1	G	A	6: 115,676,569		probably benign	Het
Rapgef2	T	A	3: 79,091,809		probably null	Het
Rnf215	A	T	11: 4,136,615	H164L	probably damaging	Het
Slc24a3	T	C	2: 145,245,027	V19A	probably benign	Het
Tbc1d16	A	T	11: 119,156,707	V396E	probably benign	Het
Tecpr1	T	C	5: 144,197,988		probably benign	Het
Thap12	T	A	7: 98,716,499	Y625N	possibly damaging	Het
Tshz2	A	T	2: 169,884,683	M400L	probably damaging	Het
Ttc28	A	G	5: 111,224,235	Y850C	possibly damaging	Het
Ugt1a7c	A	G	1: 88,095,134	D5G	probably benign	Het
Vmn2r10	C	T	5: 108,995,677	M802I	probably damaging	Het
Washc4	T	C	10: 83,556,109	Y220H	probably damaging	Het
Zfhx3	T	A	8: 108,947,193	M1625K	probably damaging	Het
Zfp677	T	A	17: 21,396,907	N75K	probably damaging	Het
Zzz3	T	C	3: 152,428,370	V355A	probably benign	Het

Other mutations in Heatr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Heatr1	APN	13	12410450	missense	probably benign	0.00
IGL00863:Heatr1	APN	13	12435128	missense	probably benign	0.02
IGL00899:Heatr1	APN	13	12435176	missense	probably benign	0.31
IGL01147:Heatr1	APN	13	12437912	missense	probably damaging	0.99
IGL01317:Heatr1	APN	13	12399027	missense	probably damaging	1.00
IGL01323:Heatr1	APN	13	12398938	missense	possibly damaging	0.86
IGL01625:Heatr1	APN	13	12413528	missense	probably damaging	0.98
IGL02803:Heatr1	APN	13	12433986	missense	probably damaging	0.96
IGL02830:Heatr1	APN	13	12426212	missense	possibly damaging	0.57
IGL02956:Heatr1	APN	13	12416059	missense	possibly damaging	0.53
IGL03000:Heatr1	APN	13	12434411	missense	probably damaging	0.99
IGL03024:Heatr1	APN	13	12407509	unclassified	probably benign
IGL03035:Heatr1	APN	13	12413219	splice site	probably benign
IGL03301:Heatr1	APN	13	12434205	missense	probably damaging	1.00
hasan	UTSW	13	12417447	splice site	probably benign
H8562:Heatr1	UTSW	13	12408713	missense	probably benign	0.13
R0226:Heatr1	UTSW	13	12410562	missense	probably damaging	1.00
R0571:Heatr1	UTSW	13	12430240	missense	probably damaging	0.98
R0722:Heatr1	UTSW	13	12406037	missense	probably benign	0.14
R1264:Heatr1	UTSW	13	12424610	unclassified	probably benign
R1371:Heatr1	UTSW	13	12417632	missense	possibly damaging	0.80
R1388:Heatr1	UTSW	13	12417447	splice site	probably benign
R1396:Heatr1	UTSW	13	12406046	missense	possibly damaging	0.86
R1519:Heatr1	UTSW	13	12412159	missense	probably benign
R1689:Heatr1	UTSW	13	12424625	missense	probably benign	0.00
R1696:Heatr1	UTSW	13	12423721	missense	possibly damaging	0.96
R1756:Heatr1	UTSW	13	12396460	missense	probably benign	0.01
R1859:Heatr1	UTSW	13	12403159	missense	probably damaging	1.00
R1932:Heatr1	UTSW	13	12435185	missense	probably damaging	1.00
R1957:Heatr1	UTSW	13	12396538	missense	probably damaging	1.00
R2018:Heatr1	UTSW	13	12414478	missense	possibly damaging	0.68
R2106:Heatr1	UTSW	13	12412058	missense	probably benign	0.03
R2119:Heatr1	UTSW	13	12432646	missense	probably null	1.00
R2121:Heatr1	UTSW	13	12403264	missense	probably benign	0.10
R2122:Heatr1	UTSW	13	12403264	missense	probably benign	0.10
R2367:Heatr1	UTSW	13	12433724	missense	probably damaging	1.00
R3777:Heatr1	UTSW	13	12413348	missense	possibly damaging	0.92
R3783:Heatr1	UTSW	13	12434460	missense	probably damaging	1.00
R3784:Heatr1	UTSW	13	12434460	missense	probably damaging	1.00
R3786:Heatr1	UTSW	13	12434460	missense	probably damaging	1.00
R3787:Heatr1	UTSW	13	12434460	missense	probably damaging	1.00
R3843:Heatr1	UTSW	13	12435121	missense	probably benign	0.00
R4533:Heatr1	UTSW	13	12434511	missense	probably benign	0.05
R4725:Heatr1	UTSW	13	12424662	nonsense	probably null
R4763:Heatr1	UTSW	13	12430930	missense	possibly damaging	0.65
R4793:Heatr1	UTSW	13	12431837	missense	probably benign	0.00
R4797:Heatr1	UTSW	13	12412048	missense	probably benign	0.36
R4798:Heatr1	UTSW	13	12412048	missense	probably benign	0.36
R4942:Heatr1	UTSW	13	12413510	critical splice acceptor site	probably null
R4952:Heatr1	UTSW	13	12410599	missense	probably benign	0.38
R4954:Heatr1	UTSW	13	12407516	critical splice acceptor site	probably null
R5370:Heatr1	UTSW	13	12401522	missense	probably benign	0.02
R5464:Heatr1	UTSW	13	12433643	missense	probably benign	0.00
R5483:Heatr1	UTSW	13	12398914	missense	probably damaging	1.00
R5497:Heatr1	UTSW	13	12421064	missense	possibly damaging	0.93
R5504:Heatr1	UTSW	13	12406619	missense	possibly damaging	0.64
R5527:Heatr1	UTSW	13	12402760	missense	probably damaging	1.00
R5527:Heatr1	UTSW	13	12404948	missense	probably benign
R5836:Heatr1	UTSW	13	12408736	missense	probably damaging	0.99
R5916:Heatr1	UTSW	13	12434471	missense	probably damaging	1.00
R6018:Heatr1	UTSW	13	12404947	missense	probably benign
R6018:Heatr1	UTSW	13	12406058	missense	probably benign	0.26
R6216:Heatr1	UTSW	13	12432664	missense	probably benign	0.16
R6396:Heatr1	UTSW	13	12406097	missense	possibly damaging	0.86
R6472:Heatr1	UTSW	13	12434230	missense	probably benign	0.29
R6922:Heatr1	UTSW	13	12435075	missense	probably benign	0.00
R7077:Heatr1	UTSW	13	12418164	missense	possibly damaging	0.63
R7297:Heatr1	UTSW	13	12421060	nonsense	probably null
R7445:Heatr1	UTSW	13	12431038	missense	possibly damaging	0.70
R7669:Heatr1	UTSW	13	12411262	missense	probably benign	0.33
R7672:Heatr1	UTSW	13	12438664	missense	probably damaging	0.96
R7772:Heatr1	UTSW	13	12417641	missense	probably benign	0.03
R8205:Heatr1	UTSW	13	12416047	missense	probably benign
R8518:Heatr1	UTSW	13	12410534	missense	probably benign
R8754:Heatr1	UTSW	13	12413294	missense	probably damaging	0.99
R8874:Heatr1	UTSW	13	12430912	missense	probably damaging	1.00
R8992:Heatr1	UTSW	13	12401114	missense	probably damaging	0.98
R9045:Heatr1	UTSW	13	12413352	missense	probably benign	0.00
R9077:Heatr1	UTSW	13	12413366	missense	probably benign
R9183:Heatr1	UTSW	13	12421385	missense	probably damaging	0.99
R9186:Heatr1	UTSW	13	12421346	missense	probably damaging	1.00
R9223:Heatr1	UTSW	13	12404921	missense	probably benign	0.00
R9242:Heatr1	UTSW	13	12433925	missense	probably benign
R9267:Heatr1	UTSW	13	12406608	missense	probably damaging	1.00
R9289:Heatr1	UTSW	13	12432727	missense	probably benign	0.13
R9310:Heatr1	UTSW	13	12438610	missense	probably benign
R9312:Heatr1	UTSW	13	12431684	missense	probably benign
R9358:Heatr1	UTSW	13	12418206	missense	probably benign	0.09
R9385:Heatr1	UTSW	13	12406542	missense	probably damaging	1.00
R9530:Heatr1	UTSW	13	12424726	missense	probably damaging	1.00
R9532:Heatr1	UTSW	13	12414425	missense	possibly damaging	0.72
R9647:Heatr1	UTSW	13	12426798	missense	probably benign	0.00
R9683:Heatr1	UTSW	13	12434259	missense	probably damaging	1.00
R9695:Heatr1	UTSW	13	12423743	missense	probably damaging	1.00
RF011:Heatr1	UTSW	13	12407544	missense	probably benign	0.00
Z1176:Heatr1	UTSW	13	12399008	missense	possibly damaging	0.68

Posted On

2014-05-07