Mutagenetix > Incidental Mutation

Incidental Mutation 'R2018:Heatr1'

223500

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

040027-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R2018 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12395027-12440289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12414478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 890 (Q890K)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059270
AA Change: Q890K

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: Q890K

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,458,065	F252L	possibly damaging	Het
4921501E09Rik	T	C	17: 33,066,967	N287S	probably benign	Het
4930447A16Rik	T	G	15: 37,440,498		probably benign	Het
Abca14	A	T	7: 120,216,185	M219L	probably benign	Het
Abi3bp	A	G	16: 56,677,796	T918A	probably damaging	Het
Acss3	C	T	10: 106,936,207	S669N	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adamtsl4	A	G	3: 95,681,102	Y559H	probably damaging	Het
Adgrg5	T	A	8: 94,934,480	M106K	probably damaging	Het
Akt1	T	C	12: 112,659,625	N71S	probably damaging	Het
Amer2	A	C	14: 60,378,445	K30Q	probably damaging	Het
Anapc5	T	C	5: 122,800,524	K383E	probably damaging	Het
Ano1	A	G	7: 144,654,250	L258P	probably damaging	Het
Arhgef10l	A	G	4: 140,544,384	S560P	probably damaging	Het
Arhgef40	T	A	14: 52,003,705	L1395Q	probably damaging	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
C77080	A	G	4: 129,222,355	S884P	probably damaging	Het
Ces2h	T	C	8: 105,018,398	L388P	probably damaging	Het
Cfap54	T	A	10: 93,016,604	N880I	probably benign	Het
Cryz	T	C	3: 154,621,683	V116A	probably damaging	Het
Csrp1	G	A	1: 135,750,628	A159T	probably damaging	Het
Cttnbp2	A	G	6: 18,434,518	F447S	probably damaging	Het
Cyp4a12a	A	T	4: 115,327,505	I328F	probably damaging	Het
Cyth4	T	G	15: 78,608,171	H133Q	probably damaging	Het
Ddah2	A	G	17: 35,060,426	I88V	possibly damaging	Het
Dmbt1	T	G	7: 131,110,989	I1563S	possibly damaging	Het
Dnajc22	T	C	15: 99,101,233	S100P	probably benign	Het
Fam172a	A	G	13: 77,999,637	T321A	possibly damaging	Het
Fancl	T	A	11: 26,422,459	D123E	probably damaging	Het
Fbxo30	A	G	10: 11,291,028	Q498R	probably damaging	Het
Fgd4	T	C	16: 16,435,960	H581R	probably benign	Het
Gm2663	T	C	6: 40,997,966	Q57R	probably benign	Het
Gm5065	A	G	7: 5,359,574	D68G	probably benign	Het
Gm7247	A	T	14: 51,365,347	M47L	possibly damaging	Het
Gsdmc2	T	A	15: 63,828,126		probably null	Het
Hc	A	C	2: 35,013,528	F1038C	probably damaging	Het
Hipk4	C	A	7: 27,529,004	T293K	probably damaging	Het
Hp1bp3	C	A	4: 138,221,632	A2E	probably damaging	Het
Il6	T	C	5: 30,014,947		probably null	Het
Itga6	A	G	2: 71,818,484	D104G	probably benign	Het
Krt24	A	G	11: 99,282,451	S293P	probably damaging	Het
Krt4	C	T	15: 101,920,651	R309Q	probably damaging	Het
Krt40	A	T	11: 99,540,087	W199R	probably damaging	Het
Lamc1	T	C	1: 153,242,632	E931G	probably benign	Het
Lamp3	A	T	16: 19,701,211	M74K	probably benign	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
March7	T	A	2: 60,229,040	Y37*	probably null	Het
Mrpl36	A	G	13: 73,331,568	K66E	probably damaging	Het
Mrps35	G	T	6: 147,061,484	E229*	probably null	Het
Mtmr6	T	C	14: 60,298,992	M557T	probably benign	Het
Myocd	A	T	11: 65,187,028	I647N	probably damaging	Het
Myom2	A	C	8: 15,131,151	L1350F	probably damaging	Het
Nosip	T	A	7: 45,076,609	S197T	probably benign	Het
Npat	A	G	9: 53,562,491	K528E	probably benign	Het
Nyap2	A	G	1: 81,191,872	T115A	probably benign	Het
Olfr1032	A	T	2: 86,008,223	Y149F	probably damaging	Het
Olfr1214	G	T	2: 88,988,145	P19Q	probably benign	Het
Olfr122	A	G	17: 37,772,576	R317G	probably benign	Het
Olfr1245	A	G	2: 89,575,393	V111A	probably damaging	Het
Olfr65	T	A	7: 103,907,042	V201D	possibly damaging	Het
Olfr972	A	G	9: 39,874,058	Q261R	probably benign	Het
Orc1	T	C	4: 108,590,700	V48A	possibly damaging	Het
Pde6d	T	C	1: 86,546,716	E69G	probably damaging	Het
Pdgfrb	A	T	18: 61,083,334	D1088V	possibly damaging	Het
Peg12	A	G	7: 62,463,638	V237A	probably benign	Het
Piezo1	A	G	8: 122,482,712	F2371L	probably benign	Het
Podn	T	A	4: 108,023,373	S27C	probably damaging	Het
Pom121l2	A	G	13: 21,982,734	M392V	possibly damaging	Het
Ppm1b	A	G	17: 84,994,202	K170R	probably damaging	Het
Rab18	A	T	18: 6,770,113		probably null	Het
Raet1d	G	A	10: 22,371,012	A80T	probably damaging	Het
Rfx7	T	A	9: 72,617,685	V719E	probably benign	Het
Rnf219	T	A	14: 104,522,542	K24M	probably damaging	Het
Ror1	C	T	4: 100,407,841	Q171*	probably null	Het
Rufy4	G	A	1: 74,140,947	V454M	possibly damaging	Het
Ryr2	C	T	13: 11,851,188	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,781,065	N2257K	probably benign	Het
Saal1	A	G	7: 46,699,489	F306S	possibly damaging	Het
Sap18	A	G	14: 57,798,564	N69S	probably damaging	Het
Sar1b	A	T	11: 51,779,687		probably null	Het
Serpina3n	G	T	12: 104,409,214	V182L	probably damaging	Het
Setd3	A	T	12: 108,118,254	H279Q	probably damaging	Het
Slc18a2	C	A	19: 59,276,505	A307E	possibly damaging	Het
Slc4a10	A	T	2: 62,234,381	D193V	probably damaging	Het
Spire2	T	C	8: 123,332,918	C52R	probably damaging	Het
Syne2	A	T	12: 76,074,579	I5940F	probably damaging	Het
Sytl1	C	T	4: 133,256,160	S355N	probably damaging	Het
Tarbp1	C	T	8: 126,428,114	V1424I	probably damaging	Het
Tatdn3	A	T	1: 191,049,280		probably null	Het
Tbpl1	T	A	10: 22,707,677	E131D	probably damaging	Het
Telo2	A	T	17: 25,105,408	M501K	probably damaging	Het
Terb1	A	G	8: 104,452,699	V619A	probably benign	Het
Tmem132e	A	G	11: 82,445,163	T1024A	probably benign	Het
Tmem30a	T	C	9: 79,774,218	D223G	probably damaging	Het
Tmprss11d	A	G	5: 86,339,554	V19A	probably damaging	Het
Tnks	A	T	8: 34,851,106	S872T	probably damaging	Het
Tnxb	A	G	17: 34,671,750	S356G	probably benign	Het
Tob2	T	C	15: 81,851,199	K190E	probably damaging	Het
Togaram1	T	C	12: 65,002,659	V1240A	possibly damaging	Het
Trim13	T	A	14: 61,604,886	C117*	probably null	Het
Trpv4	G	A	5: 114,634,605	R308C	probably damaging	Het
Ttn	C	G	2: 76,755,332	D21987H	probably damaging	Het
Ttn	C	A	2: 76,826,074		probably null	Het
Upp1	A	T	11: 9,133,240	M111L	possibly damaging	Het
Vmn1r206	A	T	13: 22,620,188	V283E	probably damaging	Het
Vmn2r79	G	T	7: 87,002,426	L344F	probably benign	Het
Vmn2r93	T	G	17: 18,326,062	I732S	probably damaging	Het
Vmn2r96	G	T	17: 18,584,001	M504I	probably benign	Het
Vps39	T	C	2: 120,343,227	Y147C	probably damaging	Het
Zbtb20	T	A	16: 43,577,652	C35S	possibly damaging	Het
Zfp871	A	T	17: 32,774,777	C475S	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GTCCAGGGACAGCATATCTGAG -3'
(R):5'- TGCAATCATCACTGACTGAATGC -3'

Sequencing Primer
(F):5'- CTGAGTAAGAACTAGACCTCACTTTG -3'
(R):5'- TCACTGACTGAATGCACAGGTCAG -3'

Posted On

2014-08-25