Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Heatr1'

702635

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12395027-12440289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12406608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 463 (F463S)

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: F463S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: F463S

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 benign
Transcript: ENSMUST00000221046

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,632,245		probably benign	Het
Abcd2	T	A	15: 91,179,220	T422S	possibly damaging	Het
Acsl3	T	G	1: 78,696,906	I390S	probably damaging	Het
Adad1	T	A	3: 37,084,925		probably benign	Het
Adam3	A	G	8: 24,681,589	V742A	probably benign	Het
Adgra3	A	T	5: 49,998,276	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,992,108	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,599,280	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,032,984	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,389,950	L5Q		Het
Cdh16	C	T	8: 104,615,202	G777D	probably damaging	Het
Cntn2	C	A	1: 132,521,283	V663L	probably benign	Het
Cpne4	T	A	9: 105,007,634	V343E	probably damaging	Het
Dctpp1	A	T	7: 127,257,103	I149N	probably benign	Het
Dlg5	T	C	14: 24,154,677	N1266S	probably damaging	Het
Dst	A	G	1: 34,193,064	D3246G	probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Erbin	T	C	13: 103,850,784	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,417	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 21,963,075	M149V	probably benign	Het
Fbxl18	C	T	5: 142,895,115	G62R	possibly damaging	Het
Fech	A	G	18: 64,458,196	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,707,705		probably null	Het
Fkbp5	A	G	17: 28,410,584	S256P	probably benign	Het
Frem2	A	G	3: 53,657,083	M1T	probably null	Het
Galnt5	T	C	2: 58,035,208	F834L	possibly damaging	Het
Gm3618	G	T	14: 6,314,964	T99N	unknown	Het
Gm884	A	T	11: 103,604,580	D2804E	unknown	Het
Gm9195	T	A	14: 72,463,106	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,346,823	D643G	probably damaging	Het
Grm4	A	G	17: 27,435,209	V589A	possibly damaging	Het
Gskip	T	A	12: 105,698,793	F30L	probably benign	Het
Haus3	T	A	5: 34,154,108		probably null	Het
Hmcn1	G	A	1: 150,597,989	S4851F	probably benign	Het
Il16	A	C	7: 83,722,549	F16L	probably benign	Het
Itga1	C	A	13: 115,049,388	C26F	possibly damaging	Het
Itga6	A	G	2: 71,838,412	E565G	probably benign	Het
Itgb4	A	G	11: 115,979,639	H98R	probably benign	Het
Kidins220	T	A	12: 24,988,559	S37T	probably benign	Het
Lrrk2	C	T	15: 91,700,426	L349F	probably damaging	Het
Malrd1	T	G	2: 16,255,266	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,386,369	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,142	D68E		Het
Mthfd1l	A	G	10: 3,984,154	D162G	probably benign	Het
Nalcn	A	T	14: 123,281,155	D1657E	probably benign	Het
Nbeal2	C	A	9: 110,633,047	V1475F	probably damaging	Het
Nf1	C	A	11: 79,440,890	Q684K	possibly damaging	Het
Olfr1116	T	C	2: 87,268,982	L67P	possibly damaging	Het
Olfr1354	A	G	10: 78,916,969	N43S	probably damaging	Het
Olfr1411	A	T	1: 92,597,272	H251L	probably damaging	Het
Olfr1411	A	T	1: 92,597,274	M252L	probably benign	Het
Olfr348	A	T	2: 36,786,518		probably benign	Het
Opn5	T	A	17: 42,592,902	T181S	probably damaging	Het
Orc4	T	A	2: 48,937,522	R20*	probably null	Het
Pik3ca	T	C	3: 32,438,062	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,811,915	E474G	probably null	Het
Pnmal2	A	T	7: 16,945,234	N48Y	unknown	Het
Pnpla2	A	C	7: 141,456,590		probably benign	Het
Polr1a	G	A	6: 71,965,558	M1127I	probably benign	Het
Ptpre	A	C	7: 135,672,820	D507A	probably damaging	Het
Rab3gap2	T	C	1: 185,251,134	V490A	probably damaging	Het
Rab44	A	T	17: 29,135,364		probably benign	Het
Rchy1	G	T	5: 91,957,972	T39N	probably benign	Het
Ripor1	A	G	8: 105,621,431	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,922,336	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,873,793	F276L	probably benign	Het
Slc8a3	T	A	12: 81,314,434	D537V	possibly damaging	Het
Smc4	T	A	3: 69,034,453	I1263N	probably damaging	Het
Snai2	A	T	16: 14,707,256	T209S	possibly damaging	Het
Stam2	A	T	2: 52,714,891	Y211N	probably damaging	Het
Stxbp1	A	G	2: 32,818,505	S83P	probably damaging	Het
Susd4	T	C	1: 182,888,824	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236	V59A	probably benign	Het
Tnk2	A	G	16: 32,675,671	D469G	probably damaging	Het
Tpx2	A	G	2: 152,890,597	D597G	probably damaging	Het
Ube2w	A	T	1: 16,541,787	S170R		Het
Vmn2r102	A	T	17: 19,676,666	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,052,063	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,337,433	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,590,193	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,354,474	K335*	probably null	Het
Zfp609	T	C	9: 65,701,046	D1184G	possibly 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
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
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'- GTGACAGACTTGATCAATATTAGCC -3'
(R):5'- TAATCATGTGACTGCAGGCCC -3'

Sequencing Primer
(F):5'- GCATGTGTTAAAATTACGTTTCACTC -3'
(R):5'- TGCACTGGTAGATGCACG -3'

Posted On

2022-03-25