Mutagenetix > Incidental Mutation

Incidental Mutation 'R2402:Heatr3'

248750

Institutional Source

Beutler Lab

Gene Symbol

Heatr3

Ensembl Gene

ENSMUSG00000031657

Gene Name

HEAT repeat containing 3

Synonyms

C030036P15Rik

MMRRC Submission

040368-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R2402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88864483-88898655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88871200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 185 (C185R)

Ref Sequence

ENSEMBL: ENSMUSP00000034079 (fasta)

Gene Model

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

AlphaFold

Q8BQM4

Predicted Effect

probably benign
Transcript: ENSMUST00000034079
AA Change: C185R

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: C185R

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
AA Change: C68R

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: C68R

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.6%
20x: 92.5%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,235,770 (GRCm39)	D1199V	probably damaging	Het
Abcc6	A	T	7: 45,664,999 (GRCm39)	S277R	probably benign	Het
Acvrl1	A	G	15: 101,035,280 (GRCm39)	S269G	probably damaging	Het
Akap10	T	C	11: 61,806,048 (GRCm39)	S227G	probably benign	Het
Angptl8	T	C	9: 21,747,112 (GRCm39)		probably null	Het
Arsi	T	C	18: 61,049,539 (GRCm39)	S141P	possibly damaging	Het
Atic	T	A	1: 71,608,216 (GRCm39)	Y303*	probably null	Het
Bbs9	C	T	9: 22,557,359 (GRCm39)	P510L	probably benign	Het
Bcl2a1b	A	G	9: 89,081,795 (GRCm39)	N128S	probably benign	Het
Bcl2a1d	A	T	9: 88,613,549 (GRCm39)	M75K	probably damaging	Het
Carm1	T	A	9: 21,494,836 (GRCm39)	L324Q	probably damaging	Het
Caskin1	T	A	17: 24,722,782 (GRCm39)	L550Q	probably damaging	Het
Cd302	A	G	2: 60,087,412 (GRCm39)	I142T	probably benign	Het
Cep350	A	T	1: 155,738,882 (GRCm39)	D2320E	probably benign	Het
Cgnl1	A	G	9: 71,632,461 (GRCm39)	S297P	probably damaging	Het
Cr1l	T	A	1: 194,789,210 (GRCm39)	Y398F	probably benign	Het
Ctsa	A	T	2: 164,676,813 (GRCm39)	D145V	probably benign	Het
Ctsj	C	T	13: 61,148,388 (GRCm39)	G303D	probably damaging	Het
Dnah17	T	C	11: 118,016,800 (GRCm39)	I250M	probably benign	Het
Doc2a	C	A	7: 126,447,919 (GRCm39)	C54*	probably null	Het
Dpy19l2	T	C	9: 24,492,544 (GRCm39)	T685A	probably damaging	Het
Dtna	T	A	18: 23,728,535 (GRCm39)	C243*	probably null	Het
Exoc3l4	A	G	12: 111,388,690 (GRCm39)	T60A	possibly damaging	Het
Exph5	C	A	9: 53,286,225 (GRCm39)	S1102*	probably null	Het
Fhl3	T	C	4: 124,599,481 (GRCm39)	Y19H	probably damaging	Het
Flt4	A	G	11: 49,528,646 (GRCm39)	E1012G	possibly damaging	Het
Flvcr2	A	G	12: 85,829,777 (GRCm39)	N262S	probably benign	Het
Gon4l	G	T	3: 88,766,350 (GRCm39)	C463F	probably damaging	Het
H2-T10	A	T	17: 36,428,631 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,792,317 (GRCm39)	V2474A	probably benign	Het
Htr3a	C	T	9: 48,812,795 (GRCm39)	E215K	probably damaging	Het
Ica1l	T	C	1: 60,045,451 (GRCm39)	T271A	probably benign	Het
Klra2	A	G	6: 131,220,864 (GRCm39)	I66T	probably benign	Het
Neto2	T	C	8: 86,417,541 (GRCm39)	K21R	probably benign	Het
Niban1	A	G	1: 151,565,365 (GRCm39)	T232A	probably benign	Het
Nisch	T	A	14: 30,906,971 (GRCm39)		probably benign	Het
Nr4a1	G	T	15: 101,169,618 (GRCm39)	R296L	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or7g19	T	A	9: 18,856,496 (GRCm39)	I184N	probably damaging	Het
Or8b50	T	C	9: 38,518,397 (GRCm39)	V212A	probably benign	Het
Pcsk5	A	T	19: 17,452,198 (GRCm39)	C1102*	probably null	Het
Phip	C	T	9: 82,757,358 (GRCm39)	A1605T	probably benign	Het
Pstpip2	T	A	18: 77,942,564 (GRCm39)	M105K	possibly damaging	Het
Qprt	C	T	7: 126,707,532 (GRCm39)	V219I	probably benign	Het
Ralgapa2	A	T	2: 146,195,112 (GRCm39)	N1271K	probably damaging	Het
Reg3g	A	T	6: 78,444,475 (GRCm39)	L106H	probably damaging	Het
Rhobtb1	G	A	10: 69,106,254 (GRCm39)	G273D	probably benign	Het
Rimbp2	T	C	5: 128,861,952 (GRCm39)	D771G	probably damaging	Het
Sos2	T	C	12: 69,643,573 (GRCm39)	I935V	possibly damaging	Het
Tcf12	A	T	9: 71,763,792 (GRCm39)	N397K	probably damaging	Het
Tgtp2	T	C	11: 48,949,957 (GRCm39)	Q205R	probably benign	Het
Tle5	T	A	10: 81,400,712 (GRCm39)	C89S	possibly damaging	Het
Tubb2b	T	C	13: 34,312,209 (GRCm39)	N195D	probably benign	Het
Unc13b	A	G	4: 43,095,843 (GRCm39)	T84A	probably benign	Het
Usb1	T	A	8: 96,069,759 (GRCm39)	F102L	probably benign	Het
Vmn2r61	A	G	7: 41,949,529 (GRCm39)	T650A	possibly damaging	Het
Zbtb41	A	C	1: 139,350,923 (GRCm39)	D12A	probably benign	Het
Zbtb41	G	T	1: 139,350,925 (GRCm39)	E13*	probably null	Het
Zfp821	C	T	8: 110,447,872 (GRCm39)	S71F	probably 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
R2043:Heatr3	UTSW	8	88,874,322 (GRCm39)	splice site	probably benign
R2079:Heatr3	UTSW	8	88,868,404 (GRCm39)	missense	probably damaging	0.99
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'- ACTGAGAGATCCCAGTGTGAAG -3'
(R):5'- AAGTTCCCTGGACATTTACAGCTAG -3'

Sequencing Primer
(F):5'- GGAATGAATCCCTGATAGCTTGTC -3'
(R):5'- CATTTACAGCTAGTAACAGTCGGGC -3'

Posted On

2014-11-11