Mutagenetix > Incidental Mutation

Incidental Mutation 'R6888:Heatr3'

537054

Institutional Source

Beutler Lab

Gene Symbol

Heatr3

Ensembl Gene

ENSMUSG00000031657

Gene Name

HEAT repeat containing 3

Synonyms

C030036P15Rik

MMRRC Submission

044982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R6888 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88137855-88172027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88170884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 531 (Y531C)

Ref Sequence

ENSEMBL: ENSMUSP00000112812 (fasta)

Gene Model

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

AlphaFold

Q8BQM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034079
AA Change: Y648C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: Y648C

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 damaging
Transcript: ENSMUST00000121949
AA Change: Y531C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: Y531C

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	G	2: 91,421,894	Y41H	probably damaging	Het
Actg1	T	C	11: 120,347,315	Y190C	probably damaging	Het
Adgrv1	A	G	13: 81,508,669	I2902T	probably damaging	Het
AI429214	G	A	8: 36,993,833	G45D	possibly damaging	Het
Ambra1	A	G	2: 91,769,027	D164G	probably damaging	Het
Ap3b1	A	T	13: 94,408,791	Q184L	probably benign	Het
Arhgef17	T	C	7: 100,930,820	D307G	possibly damaging	Het
AY761185	A	T	8: 20,944,555	Y52*	probably null	Het
Bfsp1	A	G	2: 143,826,719	S647P	probably benign	Het
C130073F10Rik	A	G	4: 101,890,256	V192A	probably benign	Het
Cacna1g	T	A	11: 94,459,207	D604V	probably benign	Het
Ccdc170	T	C	10: 4,546,854	V458A	possibly damaging	Het
Ccdc187	G	A	2: 26,289,734	R238W	probably damaging	Het
Cdh1	A	G	8: 106,658,314	S380G	probably benign	Het
Cdk5rap3	T	C	11: 96,916,192	H4R	probably benign	Het
Cftr	G	A	6: 18,313,730		probably null	Het
Dnajc16	A	G	4: 141,776,992	V219A	probably benign	Het
Drd3	A	T	16: 43,817,139	I266F	probably benign	Het
Dut	A	G	2: 125,257,124	D177G	probably benign	Het
Esr1	A	G	10: 4,857,076	I331V	probably benign	Het
Fam129c	G	T	8: 71,603,739	R361L	probably benign	Het
Gm11110	A	G	17: 57,102,143		probably benign	Het
Grm7	G	T	6: 111,358,353	G575V	possibly damaging	Het
Igfn1	A	G	1: 135,982,480	V122A	probably benign	Het
Igsf21	T	C	4: 140,034,743	D208G	probably benign	Het
Kntc1	T	C	5: 123,811,310	Y1915H	probably damaging	Het
Lamc1	A	T	1: 153,262,492	D205E	probably damaging	Het
Limch1	C	T	5: 67,021,926	T713I	probably benign	Het
Lrp1b	A	G	2: 41,471,126	I555T	probably benign	Het
Lrp2	A	T	2: 69,524,141	F448I	probably damaging	Het
March6	T	C	15: 31,459,233	K896E	probably benign	Het
Mpp6	T	G	6: 50,180,277		probably null	Het
Mroh4	T	C	15: 74,613,249	Y469C	possibly damaging	Het
Nos3	T	C	5: 24,383,335	V1060A	possibly damaging	Het
Nr1h4	A	G	10: 89,456,542	I406T	probably damaging	Het
Odf2l	T	C	3: 145,148,618		probably null	Het
Olfr1162	A	G	2: 88,050,264	M120T	probably damaging	Het
Olfr1387	A	T	11: 49,460,260	T194S	probably damaging	Het
Pbx2	A	G	17: 34,594,107	Y119C	possibly damaging	Het
Pdcd6ip	C	A	9: 113,671,837	A526S	probably benign	Het
Prx	G	A	7: 27,519,634	D1187N	possibly damaging	Het
Ptpro	G	A	6: 137,380,200	V230I	probably benign	Het
Rtn3	C	T	19: 7,457,249	M440I	probably benign	Het
Sar1b	T	C	11: 51,788,192	I96T	probably damaging	Het
Sds	T	C	5: 120,480,900		probably null	Het
Secisbp2	A	G	13: 51,679,941	T706A	probably benign	Het
Sorcs3	A	T	19: 48,693,824	M433L	possibly damaging	Het
Sppl2a	A	G	2: 126,904,992	V472A	probably damaging	Het
Tbc1d9	A	G	8: 83,271,588	E1258G	possibly damaging	Het
Tbxas1	C	A	6: 38,952,074		probably benign	Het
Tg	T	C	15: 66,696,246	I1333T	probably damaging	Het
Tmem108	C	T	9: 103,499,716	G178D	probably damaging	Het
Tmem174	A	G	13: 98,637,061	L87P	probably damaging	Het
Tmppe	T	A	9: 114,404,701	S23T	probably damaging	Het
Ttn	G	A	2: 76,761,103	T21074I	probably benign	Het
Tub	A	G	7: 109,029,298	M338V	probably null	Het
Vmn1r160	A	T	7: 22,872,106	R295*	probably null	Het
Vps52	T	C	17: 33,963,206	V518A	probably benign	Het
Wdr59	A	G	8: 111,451,043	V909A	probably benign	Het
Wnk1	T	C	6: 119,948,781	T1241A	probably benign	Het
Zfp882	G	A	8: 71,914,286	C319Y	probably benign	Het
Znfx1	A	T	2: 167,038,940	I308N	possibly damaging	Het

Other mutations in Heatr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Heatr3	APN	8	88141739	missense	possibly damaging	0.95
IGL00780:Heatr3	APN	8	88170940	missense	probably benign	0.01
IGL01105:Heatr3	APN	8	88161893	missense	probably benign	0.04
IGL01653:Heatr3	APN	8	88144617	missense	probably benign
IGL02129:Heatr3	APN	8	88158271	splice site	probably benign
IGL02145:Heatr3	APN	8	88144599	missense	probably benign	0.40
IGL02177:Heatr3	APN	8	88156723	missense	probably benign
IGL02309:Heatr3	APN	8	88167072	missense	probably damaging	1.00
IGL02675:Heatr3	APN	8	88144557	missense	possibly damaging	0.91
IGL03379:Heatr3	APN	8	88150110	missense	probably benign	0.13
R0763:Heatr3	UTSW	8	88158241	missense	probably damaging	1.00
R1244:Heatr3	UTSW	8	88141739	missense	possibly damaging	0.95
R1883:Heatr3	UTSW	8	88144593	missense	possibly damaging	0.95
R1988:Heatr3	UTSW	8	88150317	missense	probably benign	0.02
R2043:Heatr3	UTSW	8	88147694	splice site	probably benign
R2079:Heatr3	UTSW	8	88141776	missense	probably damaging	0.99
R2402:Heatr3	UTSW	8	88144572	missense	probably benign	0.33
R3916:Heatr3	UTSW	8	88150371	critical splice donor site	probably null
R3917:Heatr3	UTSW	8	88150371	critical splice donor site	probably null
R4127:Heatr3	UTSW	8	88138311	missense	probably damaging	0.99
R4182:Heatr3	UTSW	8	88171002	utr 3 prime	probably benign
R4190:Heatr3	UTSW	8	88138260	unclassified	probably benign
R4769:Heatr3	UTSW	8	88141783	critical splice donor site	probably null
R6046:Heatr3	UTSW	8	88139954	missense	probably damaging	1.00
R6073:Heatr3	UTSW	8	88138140	missense	probably benign	0.01
R7284:Heatr3	UTSW	8	88156774	missense	possibly damaging	0.69
R8278:Heatr3	UTSW	8	88156733	missense	possibly damaging	0.50
R9076:Heatr3	UTSW	8	88150199	missense	probably benign
R9262:Heatr3	UTSW	8	88156469	missense	probably benign	0.32
RF025:Heatr3	UTSW	8	88156456	critical splice acceptor site	probably benign
RF031:Heatr3	UTSW	8	88156457	critical splice acceptor site	probably benign
RF033:Heatr3	UTSW	8	88156456	critical splice acceptor site	probably benign
RF040:Heatr3	UTSW	8	88156457	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCTCACTGACAATGGAAAAG -3'
(R):5'- TCCTCAGGAACTAGGGATAGAC -3'

Sequencing Primer
(F):5'- AAAATGGCCACATTCTCATTTTCC -3'
(R):5'- ATAGACCCAGGGCTGTTGTGC -3'

Posted On

2018-10-18