Mutagenetix > Incidental Mutation

Incidental Mutation 'R4725:Heatr1'

358424

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

041960-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R4725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12395027-12440289 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 12424662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1374 (Q1374*)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably null
Transcript: ENSMUST00000059270
AA Change: Q1374*

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: Q1374*

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: ENSMUST00000221839

Predicted Effect

probably benign
Transcript: ENSMUST00000222091

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (64/67)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,577,703		probably benign	Het
Adamts20	T	C	15: 94,351,762	E458G	probably damaging	Het
Adgrl3	T	C	5: 81,766,205	I1220T	possibly damaging	Het
Aldh1a1	T	A	19: 20,640,081	M459K	probably benign	Het
Arntl	C	A	7: 113,304,359	P454Q	possibly damaging	Het
Camta1	A	G	4: 151,148,496	V240A	probably benign	Het
Ccdc88b	C	T	19: 6,857,113	G149R	probably damaging	Het
Ceacam5	T	C	7: 17,760,677	V870A	probably benign	Het
Cep192	A	C	18: 67,816,766	Q307P	probably benign	Het
Cep63	T	C	9: 102,590,556		probably benign	Het
Cldn12	A	G	5: 5,508,385	F14S	probably damaging	Het
Ctdsp1	G	A	1: 74,394,664	V135I	possibly damaging	Het
Dcaf10	G	A	4: 45,372,769	R394Q	possibly damaging	Het
Dchs1	T	C	7: 105,755,253	D2694G	probably damaging	Het
Dchs1	C	G	7: 105,765,552	G761A	probably damaging	Het
Dennd5b	A	G	6: 149,044,779	Y445H	probably damaging	Het
Dock1	T	A	7: 134,745,014	L225*	probably null	Het
Drd3	G	T	16: 43,822,801	E467*	probably null	Het
Dysf	A	T	6: 84,097,756	N527I	probably damaging	Het
Erbb2	A	G	11: 98,425,144	T358A	possibly damaging	Het
Fhad1	A	T	4: 141,928,378		probably null	Het
Ganc	T	C	2: 120,435,273	I434T	probably damaging	Het
Gm15448	A	C	7: 3,821,548	S611A	probably benign	Het
Gm5830	T	A	1: 78,967,832		noncoding transcript	Het
Gm6096	G	T	7: 34,251,059	E8*	probably null	Het
Gne	A	G	4: 44,066,806	F63S	probably benign	Het
Gpat2	T	C	2: 127,431,982	V315A	possibly damaging	Het
Gpr33	A	G	12: 52,024,109	L49P	probably damaging	Het
Hivep1	A	G	13: 42,163,411	I2032V	probably benign	Het
Igkv2-112	A	C	6: 68,220,466	I40L	probably benign	Het
Kcnab3	A	G	11: 69,330,468	N204D	probably benign	Het
Kcnj10	T	A	1: 172,369,159	F80Y	probably damaging	Het
Lcmt2	C	G	2: 121,139,430	V171L	probably benign	Het
Loxhd1	T	A	18: 77,395,457	Y1245N	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408		probably benign	Het
Mast1	A	G	8: 84,929,006	S170P	possibly damaging	Het
Mroh4	A	G	15: 74,616,107	L322P	probably damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Nudcd3	A	T	11: 6,193,475	V1D	probably damaging	Het
Pah	T	A	10: 87,554,376	L25Q	probably damaging	Het
Pik3cg	A	T	12: 32,193,597		probably null	Het
Plekha6	C	A	1: 133,283,320	S625Y	probably damaging	Het
Rtn4	T	A	11: 29,708,362	S839T	probably damaging	Het
Rusc1	A	G	3: 89,091,429	S349P	possibly damaging	Het
Samsn1	A	T	16: 75,945,329		noncoding transcript	Het
Scimp	A	G	11: 70,800,713	V30A	probably damaging	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Sgip1	A	G	4: 102,966,222	D680G	probably damaging	Het
Slc44a2	G	A	9: 21,348,395	V613M	probably damaging	Het
Smpdl3b	T	C	4: 132,745,178	T95A	probably damaging	Het
Spag6l	A	T	16: 16,792,531	L85H	probably damaging	Het
Sucla2	T	A	14: 73,568,989	Y167N	possibly damaging	Het
Svop	G	T	5: 114,065,485		probably benign	Het
Tnxb	A	T	17: 34,699,067	D2318V	probably damaging	Het
Trbv14	A	G	6: 41,135,398	D43G	probably benign	Het
Ubn2	A	G	6: 38,522,305		probably benign	Het
Ufsp1	T	C	5: 137,295,307	I173T	probably damaging	Het
Zbtb40	A	G	4: 137,018,761		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
IGL01973:Heatr1	APN	13	12429799	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCTAGAACAACCGGAAAAGTTC -3'
(R):5'- TTTCTCCATAAGCAGCCACCAG -3'

Sequencing Primer
(F):5'- CTAGAACAACCGGAAAAGTTCATAAG -3'
(R):5'- GACTAGCTGAACAAGGATG -3'

Posted On

2015-11-11