Mutagenetix > Incidental Mutation

Incidental Mutation 'R0537:Heatr6'

49510

Institutional Source

Beutler Lab

Gene Symbol

Heatr6

Ensembl Gene

ENSMUSG00000000976

Gene Name

HEAT repeat containing 6

Synonyms

MMRRC Submission

038729-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.670) question?

Stock #

R0537 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83753696-83783754 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 83779464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 948 (E948*)

Ref Sequence

ENSEMBL: ENSMUSP00000001002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001002]

AlphaFold

Q6P1G0

Predicted Effect

probably null
Transcript: ENSMUST00000001002
AA Change: E948*

SMART Domains

Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: E948*

Domain	Start	End	E-Value	Type
low complexity region	160	174	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC
low complexity region	329	348	N/A	INTRINSIC
low complexity region	391	402	N/A	INTRINSIC
Pfam:DUF4042	421	602	9.6e-73	PFAM
low complexity region	603	627	N/A	INTRINSIC
low complexity region	634	647	N/A	INTRINSIC
low complexity region	1078	1091	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136572

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	T	14: 36,096,700	K218N	probably benign	Het
Acot11	T	C	4: 106,762,455	E156G	probably benign	Het
Arhgef28	A	T	13: 97,957,716	N973K	probably damaging	Het
B4galt3	T	C	1: 171,274,251		probably benign	Het
Bmpr1a	T	C	14: 34,443,812		probably benign	Het
Camkmt	A	T	17: 85,394,659	I184F	probably benign	Het
Ccdc33	T	C	9: 58,117,454	Y163C	probably damaging	Het
Ccdc9	A	G	7: 16,280,776		probably benign	Het
Dars2	A	T	1: 161,060,748	C201S	possibly damaging	Het
Dnajc1	A	T	2: 18,307,956	S194R	possibly damaging	Het
Dock8	A	G	19: 25,171,577	D1473G	probably benign	Het
Dpm2	T	A	2: 32,572,949		probably null	Het
Dsg4	T	C	18: 20,458,571	S456P	probably damaging	Het
Gm10260	A	T	13: 97,760,563	F9Y	probably benign	Het
Gys1	T	C	7: 45,440,001	S195P	probably damaging	Het
Itgal	G	A	7: 127,311,273	R518Q	possibly damaging	Het
Klhdc8b	G	C	9: 108,449,223	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Lrrtm4	A	T	6: 80,022,120	T172S	probably benign	Het
Lypd1	A	G	1: 125,912,867		probably benign	Het
Mei1	T	C	15: 82,091,361	F121S	possibly damaging	Het
Mtor	C	T	4: 148,538,360	R1966W	probably damaging	Het
Myh7	A	G	14: 54,990,799	F247L	possibly damaging	Het
Nebl	G	T	2: 17,404,215	D392E	possibly damaging	Het
Notch2	C	A	3: 98,116,741	N840K	possibly damaging	Het
Nubp1	T	C	16: 10,422,814		probably benign	Het
Olfr1140	A	T	2: 87,746,673	Q159L	probably benign	Het
Olfr832	T	C	9: 18,945,148	S167P	probably damaging	Het
Pcdh17	T	A	14: 84,447,457	S455T	probably damaging	Het
Picalm	C	A	7: 90,130,668	H32Q	probably benign	Het
Pold1	T	C	7: 44,535,092	E828G	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rala	A	T	13: 17,888,648	N119K	probably benign	Het
Rasal2	A	T	1: 157,147,792	V1149E	possibly damaging	Het
Rd3	A	G	1: 191,983,540	Y92C	probably damaging	Het
Sart1	A	T	19: 5,381,724	D635E	probably damaging	Het
Sec16b	A	G	1: 157,537,546	T335A	possibly damaging	Het
Slc11a2	C	T	15: 100,405,798	G185R	probably damaging	Het
Slc2a12	G	A	10: 22,665,068	R274H	probably damaging	Het
Spag17	T	C	3: 100,125,302	V2276A	probably damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tenm2	T	C	11: 36,163,730	D601G	probably damaging	Het
Tmem168	C	A	6: 13,603,361	C2F	probably damaging	Het
Tmem80	A	G	7: 141,333,696	Y13C	probably damaging	Het
Try4	T	A	6: 41,304,362	N79K	probably benign	Het
Vldlr	C	A	19: 27,247,918	N798K	probably damaging	Het
Wdr41	A	G	13: 94,995,305		probably benign	Het
Zfp30	A	T	7: 29,792,735	E138V	probably damaging	Het
Zfp366	A	C	13: 99,229,278	T316P	probably damaging	Het
Zfp563	A	T	17: 33,104,685	S85C	possibly damaging	Het
Znfx1	T	C	2: 167,041,701	H162R	probably damaging	Het

Other mutations in Heatr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Heatr6	APN	11	83759309	missense	probably damaging	1.00
IGL01681:Heatr6	APN	11	83765000	missense	probably benign	0.08
IGL01905:Heatr6	APN	11	83781712	missense	probably benign	0.06
IGL02037:Heatr6	APN	11	83764882	splice site	probably benign
IGL02313:Heatr6	APN	11	83778892	missense	probably damaging	1.00
IGL02652:Heatr6	APN	11	83769732	missense	probably damaging	1.00
IGL03004:Heatr6	APN	11	83757379	missense	probably benign	0.01
IGL03229:Heatr6	APN	11	83781445	missense	probably benign	0.01
IGL03386:Heatr6	APN	11	83759377	missense	probably damaging	1.00
IGL02802:Heatr6	UTSW	11	83760936	missense	probably damaging	1.00
R1658:Heatr6	UTSW	11	83758367	missense	probably damaging	1.00
R1864:Heatr6	UTSW	11	83769230	missense	probably damaging	0.97
R1893:Heatr6	UTSW	11	83757314	missense	probably benign	0.33
R1944:Heatr6	UTSW	11	83769220	missense	probably damaging	1.00
R2115:Heatr6	UTSW	11	83757455	unclassified	probably benign
R3019:Heatr6	UTSW	11	83778832	splice site	probably null
R4050:Heatr6	UTSW	11	83755773	missense	probably damaging	0.99
R4532:Heatr6	UTSW	11	83769672	missense	probably damaging	1.00
R4576:Heatr6	UTSW	11	83765000	missense	probably benign	0.08
R4724:Heatr6	UTSW	11	83779548	nonsense	probably null
R4825:Heatr6	UTSW	11	83758322	missense	probably damaging	1.00
R5489:Heatr6	UTSW	11	83774432	missense	probably damaging	1.00
R5970:Heatr6	UTSW	11	83753718	unclassified	probably benign
R6136:Heatr6	UTSW	11	83772503	missense	possibly damaging	0.94
R6145:Heatr6	UTSW	11	83766136	missense	probably damaging	1.00
R6649:Heatr6	UTSW	11	83759365	missense	probably benign	0.01
R6653:Heatr6	UTSW	11	83759365	missense	probably benign	0.01
R6791:Heatr6	UTSW	11	83758341	missense	probably benign
R6865:Heatr6	UTSW	11	83769140	missense	probably damaging	1.00
R7154:Heatr6	UTSW	11	83777241	missense	probably benign	0.05
R7385:Heatr6	UTSW	11	83759335	missense	probably damaging	0.96
R7473:Heatr6	UTSW	11	83781391	missense	probably damaging	1.00
R7959:Heatr6	UTSW	11	83781363	nonsense	probably null
R8034:Heatr6	UTSW	11	83753909	missense	probably benign	0.01
R8202:Heatr6	UTSW	11	83759408	missense	possibly damaging	0.53
R8398:Heatr6	UTSW	11	83781338	missense	probably benign	0.01
R8472:Heatr6	UTSW	11	83765853	missense	probably benign	0.34
R8704:Heatr6	UTSW	11	83777278	missense	probably benign	0.09
R9604:Heatr6	UTSW	11	83777362	missense	probably damaging	0.99
X0014:Heatr6	UTSW	11	83781250	missense	probably damaging	0.97
Z1177:Heatr6	UTSW	11	83766081	missense	probably benign	0.00
Z1177:Heatr6	UTSW	11	83781382	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACGGGACATTTAAAAGCATGGG -3'
(R):5'- CCTTTAGCAACAGCACAGACTGGC -3'

Sequencing Primer
(F):5'- CATTTAAAAGCATGGGCTCTGG -3'
(R):5'- GCACAGACTGGCCTACTC -3'

Posted On

2013-06-12