Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01317:Heatr1'

73897

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: 0.967) question?

Stock #

IGL01317

Quality Score

Status

Chromosome

Chromosomal Location

12395027-12440289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12399027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 162 (W162R)

Ref Sequence

ENSEMBL: ENSMUSP00000152410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059270] [ENSMUST00000221046] [ENSMUST00000223324]

AlphaFold

G3X9B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059270
AA Change: W162R

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

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: W162R

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 damaging
Transcript: ENSMUST00000221046
AA Change: W162R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222817

Predicted Effect

probably benign
Transcript: ENSMUST00000223324

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 24,872,581	D609E	probably damaging	Het
Aldh3b1	T	C	19: 3,918,104	I352V	probably benign	Het
Apeh	A	T	9: 108,086,207	S605R	probably benign	Het
Arhgap32	A	G	9: 32,256,964	K748E	probably benign	Het
Avpr1a	T	C	10: 122,449,567	S255P	probably benign	Het
Cadps2	T	A	6: 23,314,173	D1124V	possibly damaging	Het
Cask	C	T	X: 13,522,260	E83K	probably damaging	Het
Ccdc129	G	T	6: 55,967,805	A504S	possibly damaging	Het
Cep170b	A	G	12: 112,737,644	Y670C	probably damaging	Het
Chd3	A	G	11: 69,353,211	Y1343H	probably damaging	Het
Cit	T	A	5: 115,908,716	V396D	probably benign	Het
Cldn18	T	C	9: 99,696,082	T203A	probably benign	Het
Dido1	A	C	2: 180,671,757	N907K	probably benign	Het
Dmbt1	T	A	7: 131,041,191	D246E	probably damaging	Het
Dph1	T	C	11: 75,180,660	H303R	probably benign	Het
Dspp	T	A	5: 104,174,048	Y8N	probably damaging	Het
Efhc2	C	T	X: 17,204,959		probably benign	Het
Fam160a1	T	C	3: 85,672,846	D684G	probably benign	Het
Fam171a1	T	A	2: 3,202,626	V215E	probably damaging	Het
Foxm1	T	A	6: 128,367,353	M22K	probably damaging	Het
Gdpd4	A	C	7: 97,998,258	M371L	possibly damaging	Het
Hdac9	T	C	12: 34,429,489		probably benign	Het
Hydin	A	T	8: 110,326,446	D250V	probably damaging	Het
Itga4	T	A	2: 79,322,661	C897*	probably null	Het
Kcnd2	T	C	6: 21,727,340	*631Q	probably null	Het
Kcnn2	A	G	18: 45,560,627		probably null	Het
Lama1	A	T	17: 67,818,701	E2951V	probably damaging	Het
Lyst	A	G	13: 13,670,870	Q1944R	probably benign	Het
Mmp14	A	G	14: 54,435,790	T52A	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,624	N102K	probably benign	Het
Mrpl28	G	A	17: 26,125,515	G205D	probably damaging	Het
Mtmr4	T	C	11: 87,602,404		probably benign	Het
Olfr1308	T	A	2: 111,960,275	H266L	possibly damaging	Het
Oog2	A	G	4: 144,195,267	N249S	probably benign	Het
Ppp6r2	T	A	15: 89,285,928	V882E	possibly damaging	Het
Qser1	A	C	2: 104,786,979	Y1073D	probably damaging	Het
Rbl2	C	A	8: 91,100,057	D480E	probably damaging	Het
Rfx7	G	A	9: 72,618,536	G1003S	probably damaging	Het
Rrh	A	C	3: 129,822,425	F20V	possibly damaging	Het
Rwdd3	A	G	3: 121,171,633	I15T	possibly damaging	Het
Sestd1	A	T	2: 77,192,545	M493K	possibly damaging	Het
Slc17a8	T	A	10: 89,620,804	L32F	probably benign	Het
Slc29a4	A	G	5: 142,705,530	D55G	probably benign	Het
Tbc1d10a	A	T	11: 4,212,826	Y223F	probably benign	Het
Tbx20	A	G	9: 24,769,755	V147A	probably damaging	Het
Tmem63c	A	T	12: 87,071,996		probably benign	Het
Tmtc2	C	A	10: 105,413,785	R29L	probably damaging	Het
Ttc21b	T	A	2: 66,188,356	M1236L	probably benign	Het
Unc119	T	A	11: 78,347,226	C12S	probably damaging	Het
Vcan	A	G	13: 89,691,668	M1919T	probably benign	Het
Zmat4	C	A	8: 23,902,169	T47K	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
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
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

2013-10-07