Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Heatr1'

503738

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

044349-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12395027-12440289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12432664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1746 (T1746I)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: T1746I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: T1746I

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: ENSMUST00000221051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221616

Predicted Effect

unknown
Transcript: ENSMUST00000222091
AA Change: T346I

Meta Mutation Damage Score

0.1023

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,257,627	D488G	probably benign	Het
Adgrv1	C	A	13: 81,524,471		probably null	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alkbh3	G	A	2: 94,008,536		probably benign	Het
Ankrd22	A	T	19: 34,124,169		probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arid2	A	G	15: 96,356,909	D212G	probably benign	Het
Bbx	A	T	16: 50,251,388	S225T	probably benign	Het
Bivm	T	A	1: 44,126,868		probably null	Het
Bpifb3	A	G	2: 153,925,853	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,378,819	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,224,971	S36*	probably null	Het
Ccser2	A	G	14: 36,940,508	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,471,996	S348T	probably benign	Het
Ddx49	C	T	8: 70,297,284	G161D	probably damaging	Het
Dhx16	A	G	17: 35,882,972	E353G	possibly damaging	Het
Etv2	A	G	7: 30,634,611		probably null	Het
Extl1	T	C	4: 134,363,130	T345A	probably benign	Het
Fam163a	A	T	1: 156,078,995	S137T	probably benign	Het
Fermt2	A	T	14: 45,459,881	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742	C388R	probably damaging	Het
Galnt18	A	C	7: 111,513,550	V470G	probably benign	Het
Grin2b	T	A	6: 135,772,399	I602F	probably damaging	Het
Gucy1b1	G	T	3: 82,046,713		probably null	Het
Hace1	T	C	10: 45,618,547	V151A	probably benign	Het
Hadhb	T	A	5: 30,174,931	D258E	probably benign	Het
Hrnr	T	C	3: 93,332,162	S3236P	unknown	Het
Kcnd1	G	C	X: 7,823,909	A23P	probably damaging	Homo
Kiz	C	A	2: 146,889,497	D302E	probably damaging	Het
Kng2	A	T	16: 22,987,593	W619R	probably damaging	Het
Mfap3l	C	A	8: 60,671,807	T361K	probably damaging	Het
Mlec	T	C	5: 115,150,317	H160R	probably benign	Het
Myo16	T	C	8: 10,315,494	L89P	probably benign	Het
Neb	T	C	2: 52,224,552	I4232V	probably benign	Het
Nf1	A	G	11: 79,411,607	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,318,383	F1942V	probably damaging	Het
Olfr1205	T	C	2: 88,831,311	S65P	probably damaging	Het
Olfr1242	C	A	2: 89,493,722	V197F	probably damaging	Het
Olfr642	A	G	7: 104,049,695	Y220H	probably damaging	Het
Olfr699	A	T	7: 106,790,458	I181N	probably benign	Het
Pabpc2	G	T	18: 39,774,719	A346S	probably damaging	Het
Paxip1	T	C	5: 27,766,173	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,731,928	T259S	probably benign	Het
Pfkp	A	T	13: 6,619,188	L253H	probably benign	Het
Piezo1	T	C	8: 122,489,130	D1428G	probably benign	Het
Pih1d3	A	T	1: 31,223,351	D138V	probably damaging	Het
Pkd1l2	T	G	8: 117,081,470	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,880,320		probably benign	Het
Ppfia4	T	C	1: 134,329,183	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,524,022	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,471,413	I381N	probably damaging	Het
Ptx3	T	A	3: 66,224,844	V262E	probably damaging	Het
Rab21	A	T	10: 115,294,926	H158Q	probably benign	Het
Rasa2	A	G	9: 96,544,304	S830P	probably damaging	Het
Rdh1	G	A	10: 127,764,753	S215N	probably benign	Het
Rhot1	G	A	11: 80,251,059	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Sart3	C	T	5: 113,743,206	A938T	probably benign	Het
Selenom	A	T	11: 3,514,915		probably benign	Het
Selenop	T	C	15: 3,279,465	C300R	probably damaging	Het
Skint1	T	A	4: 112,021,482	S204T	probably benign	Het
Ss18l1	A	G	2: 180,061,913	N313S	unknown	Het
Sycp2l	A	G	13: 41,141,724	D289G	probably damaging	Het
Terf1	C	T	1: 15,818,997	H188Y	probably benign	Het
Tmem116	C	T	5: 121,491,108	T188M	probably benign	Het
Trdn	A	G	10: 33,305,069	T357A	probably damaging	Het
Trip11	A	C	12: 101,890,600	M401R	probably benign	Het
Ubald2	A	C	11: 116,434,385	D26A	probably benign	Het
Ube2w	C	G	1: 16,619,284		probably benign	Het
Vmn2r101	T	A	17: 19,591,005	S450R	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
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'- ATGTGTCAGCACTGTTGGC -3'
(R):5'- ACTGAGGGGTGAAACTGTCC -3'

Sequencing Primer
(F):5'- TCAGCACTGTTGGCACCAAG -3'
(R):5'- TGAAACTGTCCCCCTGGC -3'

Posted On

2018-02-27