Mutagenetix > Incidental Mutation

Incidental Mutation 'R2043:Heatr3'

225205

Institutional Source

Beutler Lab

Gene Symbol

Heatr3

Ensembl Gene

ENSMUSG00000031657

Gene Name

HEAT repeat containing 3

Synonyms

C030036P15Rik

MMRRC Submission

040050-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R2043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88864483-88898655 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 88874322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034079] [ENSMUST00000121949]

AlphaFold

Q8BQM4

Predicted Effect

probably benign
Transcript: ENSMUST00000034079

SMART Domains

Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657

Domain	Start	End	E-Value	Type
Pfam:HEAT_EZ	41	106	2.5e-11	PFAM
Blast:ARM	111	171	2e-25	BLAST
Blast:ARM	172	215	1e-15	BLAST
low complexity region	357	366	N/A	INTRINSIC
low complexity region	375	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121949

SMART Domains

Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657

Domain	Start	End	E-Value	Type
Blast:ARM	1	54	7e-20	BLAST
Blast:ARM	55	98	8e-16	BLAST
low complexity region	240	249	N/A	INTRINSIC
low complexity region	258	276	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	G	8: 25,486,669 (GRCm39)		probably null	Het
Adnp2	A	C	18: 80,171,541 (GRCm39)	M956R	probably damaging	Het
Aldh1l1	T	A	6: 90,534,314 (GRCm39)	D36E	probably benign	Het
Ankmy1	T	C	1: 92,804,249 (GRCm39)		probably benign	Het
Apaf1	T	C	10: 90,872,890 (GRCm39)	D718G	probably damaging	Het
Ascc3	C	T	10: 50,576,616 (GRCm39)	P857L	probably damaging	Het
Atp8b1	T	C	18: 64,738,271 (GRCm39)	K60R	possibly damaging	Het
Bub1	A	T	2: 127,646,140 (GRCm39)	C947S	probably damaging	Het
Cacna1c	C	T	6: 118,573,049 (GRCm39)	G2017D	probably benign	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc110	T	C	8: 46,395,864 (GRCm39)	M585T	probably benign	Het
Cep85l	A	T	10: 53,234,224 (GRCm39)	N51K	possibly damaging	Het
Cftr	T	C	6: 18,320,934 (GRCm39)	F1415L	probably benign	Het
Cln5	T	C	14: 103,313,380 (GRCm39)	S211P	probably damaging	Het
Dcaf5	A	T	12: 80,386,991 (GRCm39)	D378E	probably benign	Het
Dhx57	A	G	17: 80,560,509 (GRCm39)		probably benign	Het
Dsn1	G	A	2: 156,847,273 (GRCm39)	S55L	possibly damaging	Het
Eif5b	T	C	1: 38,080,900 (GRCm39)	F747S	probably damaging	Het
Entrep3	A	G	3: 89,092,874 (GRCm39)	Y251C	probably damaging	Het
Fbxo25	A	G	8: 13,971,905 (GRCm39)	I86V	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glcci1	T	A	6: 8,582,590 (GRCm39)	I130K	probably damaging	Het
Gm5424	A	G	10: 61,906,990 (GRCm39)		noncoding transcript	Het
Gsdma	G	A	11: 98,557,046 (GRCm39)	V54M	possibly damaging	Het
H3c3	A	G	13: 23,929,278 (GRCm39)	F68S	probably damaging	Het
Hspa13	A	G	16: 75,555,156 (GRCm39)	L310S	probably benign	Het
Il6st	A	C	13: 112,616,753 (GRCm39)	Q100P	probably benign	Het
Ly6g6e	G	A	17: 35,296,840 (GRCm39)	R27Q	possibly damaging	Het
Mis18bp1	A	T	12: 65,196,192 (GRCm39)	I524K	probably damaging	Het
Myo18a	T	C	11: 77,714,189 (GRCm39)	I761T	probably damaging	Het
Mypop	T	C	7: 18,734,944 (GRCm39)		probably benign	Het
Or51ag1	A	G	7: 103,156,150 (GRCm39)	M1T	probably null	Het
Pcdh20	G	A	14: 88,704,591 (GRCm39)	T903I	probably benign	Het
Pdk4	A	T	6: 5,485,502 (GRCm39)	C396S	probably benign	Het
Piwil2	A	G	14: 70,628,919 (GRCm39)	V699A	probably benign	Het
Plekha5	T	C	6: 140,498,530 (GRCm39)		probably benign	Het
Ralgapa1	T	A	12: 55,723,811 (GRCm39)	I1572L	probably damaging	Het
Rasgrf2	T	A	13: 92,167,351 (GRCm39)	M241L	possibly damaging	Het
Ryr1	C	T	7: 28,759,056 (GRCm39)	R3374H	probably damaging	Het
Slc24a2	A	T	4: 86,914,882 (GRCm39)	M519K	probably damaging	Het
Smg9	T	A	7: 24,105,001 (GRCm39)	I67N	possibly damaging	Het
Spart	G	A	3: 55,034,969 (GRCm39)	A452T	probably damaging	Het
Ush2a	T	A	1: 188,648,453 (GRCm39)	F4686Y	probably benign	Het
Zfp146	T	C	7: 29,861,664 (GRCm39)	K126R	possibly damaging	Het
Zfp386	T	A	12: 116,022,781 (GRCm39)	D131E	probably benign	Het
Zfp423	T	C	8: 88,509,246 (GRCm39)	D366G	probably damaging	Het
Zfp729a	T	C	13: 67,769,291 (GRCm39)	K313E	probably damaging	Het
Zfp955a	G	A	17: 33,461,527 (GRCm39)	H202Y	possibly damaging	Het

Other mutations in Heatr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Heatr3	APN	8	88,868,367 (GRCm39)	missense	possibly damaging	0.95
IGL00780:Heatr3	APN	8	88,897,568 (GRCm39)	missense	probably benign	0.01
IGL01105:Heatr3	APN	8	88,888,521 (GRCm39)	missense	probably benign	0.04
IGL01653:Heatr3	APN	8	88,871,245 (GRCm39)	missense	probably benign
IGL02129:Heatr3	APN	8	88,884,899 (GRCm39)	splice site	probably benign
IGL02145:Heatr3	APN	8	88,871,227 (GRCm39)	missense	probably benign	0.40
IGL02177:Heatr3	APN	8	88,883,351 (GRCm39)	missense	probably benign
IGL02309:Heatr3	APN	8	88,893,700 (GRCm39)	missense	probably damaging	1.00
IGL02675:Heatr3	APN	8	88,871,185 (GRCm39)	missense	possibly damaging	0.91
IGL03379:Heatr3	APN	8	88,876,738 (GRCm39)	missense	probably benign	0.13
R0763:Heatr3	UTSW	8	88,884,869 (GRCm39)	missense	probably damaging	1.00
R1244:Heatr3	UTSW	8	88,868,367 (GRCm39)	missense	possibly damaging	0.95
R1883:Heatr3	UTSW	8	88,871,221 (GRCm39)	missense	possibly damaging	0.95
R1988:Heatr3	UTSW	8	88,876,945 (GRCm39)	missense	probably benign	0.02
R2079:Heatr3	UTSW	8	88,868,404 (GRCm39)	missense	probably damaging	0.99
R2402:Heatr3	UTSW	8	88,871,200 (GRCm39)	missense	probably benign	0.33
R3916:Heatr3	UTSW	8	88,876,999 (GRCm39)	critical splice donor site	probably null
R3917:Heatr3	UTSW	8	88,876,999 (GRCm39)	critical splice donor site	probably null
R4127:Heatr3	UTSW	8	88,864,939 (GRCm39)	missense	probably damaging	0.99
R4182:Heatr3	UTSW	8	88,897,630 (GRCm39)	utr 3 prime	probably benign
R4190:Heatr3	UTSW	8	88,864,888 (GRCm39)	unclassified	probably benign
R4769:Heatr3	UTSW	8	88,868,411 (GRCm39)	critical splice donor site	probably null
R6046:Heatr3	UTSW	8	88,866,582 (GRCm39)	missense	probably damaging	1.00
R6073:Heatr3	UTSW	8	88,864,768 (GRCm39)	missense	probably benign	0.01
R6888:Heatr3	UTSW	8	88,897,512 (GRCm39)	missense	probably damaging	1.00
R7284:Heatr3	UTSW	8	88,883,402 (GRCm39)	missense	possibly damaging	0.69
R8278:Heatr3	UTSW	8	88,883,361 (GRCm39)	missense	possibly damaging	0.50
R9076:Heatr3	UTSW	8	88,876,827 (GRCm39)	missense	probably benign
R9262:Heatr3	UTSW	8	88,883,097 (GRCm39)	missense	probably benign	0.32
RF025:Heatr3	UTSW	8	88,883,084 (GRCm39)	critical splice acceptor site	probably benign
RF031:Heatr3	UTSW	8	88,883,085 (GRCm39)	critical splice acceptor site	probably benign
RF033:Heatr3	UTSW	8	88,883,084 (GRCm39)	critical splice acceptor site	probably benign
RF040:Heatr3	UTSW	8	88,883,085 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CAATTCACAGGTTTCTAATTGTTGG -3'
(R):5'- GCGTTTCTATATGAGACAAACAGTG -3'

Sequencing Primer
(F):5'- CACAGGTTTCTAATTGTTGGTTCTTG -3'
(R):5'- GCATTGTAGAGCTGGGAA -3'

Posted On

2014-08-25