Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Heatr1'

729237

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: 0.967) question?

Stock #

R9695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12395027-12440289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12423743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1353 (V1353A)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059270
AA Change: V1353A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: V1353A

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: ENSMUST00000222091

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,182,307	T1A		Het
Adgrl1	G	A	8: 83,938,431	R1249Q	probably damaging	Het
Apeh	G	A	9: 108,086,284	R580C	probably damaging	Het
Armc12	T	A	17: 28,531,019	C46S	probably benign	Het
Avpr1a	C	T	10: 122,448,940	R46C	probably damaging	Het
Cbln4	C	G	2: 172,037,549	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,427,344	N254S	probably benign	Het
Cd96	T	A	16: 46,099,047	I204F	probably damaging	Het
Cel	G	T	2: 28,560,949	L101I	probably damaging	Het
Crtap	A	T	9: 114,386,310	Y170*	probably null	Het
Ctxn3	A	G	18: 57,477,113	M1V	probably null	Het
Cwf19l1	G	T	19: 44,112,986	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,438,127	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,399,332	T478A	probably damaging	Het
Dvl2	G	A	11: 70,009,150	R590Q	possibly damaging	Het
Elovl7	C	A	13: 108,279,708	Q211K	probably damaging	Het
Fech	A	G	18: 64,467,732	I233T	probably damaging	Het
Fsip2	A	T	2: 82,975,882	Q848H	probably benign	Het
Gna15	A	G	10: 81,523,918	C13R	probably damaging	Het
Gstt4	A	T	10: 75,821,238	S65T	probably benign	Het
Hip1r	A	T	5: 124,001,853	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,538,390	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,473,683	T810A	unknown	Het
Ighv1-69	T	C	12: 115,623,367	T49A	probably benign	Het
Il4i1	A	T	7: 44,839,609	D266V	probably damaging	Het
Itga3	A	T	11: 95,055,694		probably null	Het
Itpr1	A	G	6: 108,401,350	N1279S	probably damaging	Het
Madd	T	C	2: 91,162,584	T997A	probably benign	Het
Mal	C	T	2: 127,640,388	V32I	probably benign	Het
Map9	T	A	3: 82,376,985	S289T	probably benign	Het
Mmp15	G	T	8: 95,370,786	R461L	possibly damaging	Het
Nelfcd	T	A	2: 174,425,130	I395N	probably benign	Het
Neurog2	T	A	3: 127,634,045	V106E	probably damaging	Het
Nup160	T	A	2: 90,708,142	N761K	probably damaging	Het
Oasl1	G	A	5: 114,935,995	R321Q	probably damaging	Het
Olfr1076	T	C	2: 86,508,756	V99A	probably benign	Het
Olfr1412	A	G	1: 92,588,873	D181G	probably benign	Het
Olfr437	A	T	6: 43,167,576	I173L	probably benign	Het
Olfr837	A	G	9: 19,137,875	N294S	probably damaging	Het
Oosp2	T	C	19: 11,651,630	T36A		Het
Otx2	T	G	14: 48,662,495	S16R	probably damaging	Het
Phactr2	A	G	10: 13,474,164	S39P	unknown	Het
Piwil2	A	G	14: 70,389,900	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,206,121	Y949S	probably benign	Het
Prss35	A	G	9: 86,755,708	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,197,921	I934T	probably damaging	Het
Rictor	T	G	15: 6,786,529	V1094G	probably benign	Het
Riok1	A	G	13: 38,058,700	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,617,336	R12W	possibly damaging	Het
Slc44a5	T	A	3: 154,250,951	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,547,663	L205S	probably benign	Het
Slco2a1	A	G	9: 103,084,940	R604G	possibly damaging	Het
Slmap	T	A	14: 26,462,341	T296S	probably damaging	Het
Snrk	T	C	9: 122,166,574	V473A	probably benign	Het
Spg20	A	G	3: 55,126,534	T394A	probably benign	Het
Stil	T	C	4: 115,024,181	S641P	probably damaging	Het
Syne1	A	G	10: 5,318,461	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,902,360	A336V	probably null	Het
Tespa1	T	C	10: 130,362,416	S436P	probably benign	Het
Thumpd3	G	T	6: 113,047,661	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,665,435	E43A	probably benign	Het
Vars	A	G	17: 35,012,588	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,604,225	H991L	probably benign	Het
Zfp160	A	G	17: 21,025,484	K99E	possibly damaging	Het
Zfp759	G	A	13: 67,139,134	V250I	possibly damaging	Het
Zmym6	T	C	4: 127,122,547	V707A	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
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
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'- CCTTTGCCTGTTCTTGAGGAAG -3'
(R):5'- TACACTACTAGAGTTCAGTGAAACCAC -3'

Sequencing Primer
(F):5'- CAGGATAAAGTTCTTCACAAC -3'
(R):5'- AGAGTTCAGTGAAACCACATTTAAC -3'

Posted On

2022-10-06