Mutagenetix > Incidental Mutation

Incidental Mutation 'R1988:Heatr3'

222857

Institutional Source

Beutler Lab

Gene Symbol

Heatr3

Ensembl Gene

ENSMUSG00000031657

Gene Name

HEAT repeat containing 3

Synonyms

C030036P15Rik

MMRRC Submission

040000-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R1988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88137855-88172027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88150317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 329 (I329T)

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: I329T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: I329T

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: I212T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: I212T

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

0.0717

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,896	D216V	possibly damaging	Het
2610021A01Rik	C	T	7: 41,626,657	R595*	probably null	Het
Adgrl3	A	G	5: 81,688,567	D724G	probably damaging	Het
Akap6	T	C	12: 53,140,795	F1664S	possibly damaging	Het
Akt1	T	C	12: 112,655,151	I404V	probably benign	Het
Anxa13	T	A	15: 58,341,948		noncoding transcript	Het
Atoh1	T	C	6: 64,729,633	V104A	probably benign	Het
Brwd1	T	C	16: 96,021,237	D1256G	probably damaging	Het
C9	ATTTT	ATTT	15: 6,483,138		probably null	Het
Cd164	A	G	10: 41,523,181	T89A	probably benign	Het
Cep350	G	C	1: 155,933,104	N575K	possibly damaging	Het
Chrm5	A	G	2: 112,480,252	V173A	probably damaging	Het
Cnot1	A	G	8: 95,741,944	V1417A	possibly damaging	Het
Cntnap3	T	C	13: 64,758,390	T801A	probably damaging	Het
Cntnap5b	A	C	1: 100,072,140	K208Q	possibly damaging	Het
Crx	A	T	7: 15,869,347	V107D	possibly damaging	Het
Csrnp2	A	G	15: 100,489,440	F49S	probably damaging	Het
Ctbp1	A	G	5: 33,250,904	L228P	possibly damaging	Het
Ctdp1	A	T	18: 80,449,401	D626E	possibly damaging	Het
Cyp1a2	T	C	9: 57,682,286	T82A	possibly damaging	Het
Dnah3	T	A	7: 119,967,570	T2478S	possibly damaging	Het
Dnah3	T	G	7: 119,967,959	D2348A	probably damaging	Het
Dnah5	T	C	15: 28,343,591	I2379T	probably damaging	Het
Dnah6	A	G	6: 73,092,192	I2504T	probably damaging	Het
Dnase1l2	A	C	17: 24,441,651	W138G	probably damaging	Het
Dopey2	T	A	16: 93,766,173	I855N	probably damaging	Het
Dsc3	T	A	18: 19,965,846	N759Y	possibly damaging	Het
Dtx2	C	T	5: 136,032,293	R510*	probably null	Het
Fat4	G	T	3: 38,887,115	M52I	probably benign	Het
Fat4	G	A	3: 38,996,090	E4034K	probably damaging	Het
Fezf2	T	C	14: 12,344,350	K279R	probably damaging	Het
Fsip2	G	T	2: 82,976,517	W1060L	possibly damaging	Het
G6pc	T	A	11: 101,367,942	I49N	probably damaging	Het
Gars	A	G	6: 55,077,772	E688G	probably null	Het
Gdf11	T	C	10: 128,885,242	N361S	probably benign	Het
Gli3	A	C	13: 15,726,380	M1451L	probably benign	Het
Herc3	T	G	6: 58,884,975		probably null	Het
Hrnr	A	G	3: 93,332,604	N3383S	unknown	Het
Igsf3	A	T	3: 101,431,296	I309F	probably benign	Het
Kif21b	C	T	1: 136,152,264	R513W	probably damaging	Het
Kif7	G	T	7: 79,699,241	H1195Q	probably benign	Het
Lpcat4	T	C	2: 112,242,542	V182A	possibly damaging	Het
Map3k21	T	A	8: 125,927,555	I371N	probably benign	Het
Mns1	G	A	9: 72,448,759		probably null	Het
Myo3a	A	G	2: 22,578,128	T465A	possibly damaging	Het
Nlrc4	A	T	17: 74,426,943	S992T	probably benign	Het
Notch4	G	A	17: 34,587,588	G1833E	possibly damaging	Het
Olfr160	A	T	9: 37,711,697	I194K	possibly damaging	Het
Olfr467	A	T	7: 107,814,700	I39L	probably benign	Het
Olfr600	T	A	7: 103,346,109	Y273F	possibly damaging	Het
Olfr666	T	C	7: 104,892,903	T242A	probably damaging	Het
Olfr998	G	A	2: 85,590,641	V34I	probably benign	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Pik3cd	T	A	4: 149,663,203	T28S	probably damaging	Het
Pkd1	G	T	17: 24,576,592		probably null	Het
Plk4	A	T	3: 40,805,817	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,643,989	L77P	probably damaging	Het
Ppm1f	T	C	16: 16,923,666	S335P	probably damaging	Het
Prr16	C	T	18: 51,303,277	P276L	probably damaging	Het
Rilp	A	G	11: 75,510,933		probably null	Het
Rspry1	A	G	8: 94,632,054		probably null	Het
Serpinb9b	T	C	13: 33,029,559	V33A	probably benign	Het
Slc4a10	C	A	2: 62,268,204	Q561K	probably damaging	Het
Smyd5	T	C	6: 85,438,136	I42T	possibly damaging	Het
Stk17b	T	C	1: 53,761,082	N246D	probably damaging	Het
Suco	T	C	1: 161,818,811		probably null	Het
Tcrg-C3	C	A	13: 19,260,994	F37L	probably damaging	Het
Tecpr1	C	T	5: 144,204,697	V785M	possibly damaging	Het
Telo2	C	T	17: 25,101,668	V756I	probably benign	Het
Tgm1	C	T	14: 55,705,577	R602H	probably benign	Het
Timeless	A	G	10: 128,244,187	T402A	probably damaging	Het
Tnfaip2	T	A	12: 111,449,891		probably null	Het
Trim5	A	G	7: 104,265,621	S414P	probably damaging	Het
Txnip	A	G	3: 96,559,750	T247A	possibly damaging	Het
Vmn1r174	A	T	7: 23,754,625	T239S	probably damaging	Het
Vmn1r231	T	A	17: 20,889,950	E234D	probably damaging	Het
Zranb3	A	T	1: 127,959,743	N982K	probably benign	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
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
R6888:Heatr3	UTSW	8	88170884	missense	probably damaging	1.00
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'- CATTAATGCCATCCTAGGTGCC -3'
(R):5'- GCTAAGGAAGCCTGCTGAAG -3'

Sequencing Primer
(F):5'- CATCCTAGGTGCCTTGTCTGAAG -3'
(R):5'- TTCAGAGGGCCACATTCAATTC -3'

Posted On

2014-08-25