Mutagenetix > Incidental Mutation

Incidental Mutation 'R3019:Heatr6'

257714

Institutional Source

Beutler Lab

Gene Symbol

Heatr6

Ensembl Gene

ENSMUSG00000000976

Gene Name

HEAT repeat containing 6

Synonyms

2700008B19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.886) question?

Stock #

R3019 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83644522-83674580 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 83669658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001002 (fasta)

Gene Model

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

AlphaFold

Q6P1G0

Predicted Effect

probably null
Transcript: ENSMUST00000001002

SMART Domains

Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976

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

probably null
Transcript: ENSMUST00000001002

SMART Domains

Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976

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

probably null
Transcript: ENSMUST00000001002

SMART Domains

Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	C	A	9: 95,787,871 (GRCm39)	A1488E	possibly damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Birc2	C	T	9: 7,857,390 (GRCm39)		probably null	Het
Cntnap5a	T	C	1: 116,029,299 (GRCm39)	L251P	probably benign	Het
Fryl	G	T	5: 73,240,193 (GRCm39)	H1406N	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Lamb3	T	C	1: 193,013,717 (GRCm39)		probably null	Het
Lhx5	G	T	5: 120,578,070 (GRCm39)	A297S	probably benign	Het
Med18	G	A	4: 132,187,128 (GRCm39)	R124C	probably damaging	Het
Synpo2	A	G	3: 122,907,228 (GRCm39)	V696A	probably damaging	Het
Tgfbr3	C	A	5: 107,285,412 (GRCm39)	R563L	possibly damaging	Het
Tm6sf1	A	G	7: 81,525,813 (GRCm39)	T207A	probably benign	Het
Vmn1r56	C	A	7: 5,199,061 (GRCm39)	M185I	probably benign	Het
Vmn1r64	A	G	7: 5,887,226 (GRCm39)	S106P	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het

Other mutations in Heatr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Heatr6	APN	11	83,650,135 (GRCm39)	missense	probably damaging	1.00
IGL01681:Heatr6	APN	11	83,655,826 (GRCm39)	missense	probably benign	0.08
IGL01905:Heatr6	APN	11	83,672,538 (GRCm39)	missense	probably benign	0.06
IGL02037:Heatr6	APN	11	83,655,708 (GRCm39)	splice site	probably benign
IGL02313:Heatr6	APN	11	83,669,718 (GRCm39)	missense	probably damaging	1.00
IGL02652:Heatr6	APN	11	83,660,558 (GRCm39)	missense	probably damaging	1.00
IGL03004:Heatr6	APN	11	83,648,205 (GRCm39)	missense	probably benign	0.01
IGL03229:Heatr6	APN	11	83,672,271 (GRCm39)	missense	probably benign	0.01
IGL03386:Heatr6	APN	11	83,650,203 (GRCm39)	missense	probably damaging	1.00
IGL02802:Heatr6	UTSW	11	83,651,762 (GRCm39)	missense	probably damaging	1.00
R0537:Heatr6	UTSW	11	83,670,290 (GRCm39)	nonsense	probably null
R1658:Heatr6	UTSW	11	83,649,193 (GRCm39)	missense	probably damaging	1.00
R1864:Heatr6	UTSW	11	83,660,056 (GRCm39)	missense	probably damaging	0.97
R1893:Heatr6	UTSW	11	83,648,140 (GRCm39)	missense	probably benign	0.33
R1944:Heatr6	UTSW	11	83,660,046 (GRCm39)	missense	probably damaging	1.00
R2115:Heatr6	UTSW	11	83,648,281 (GRCm39)	unclassified	probably benign
R4050:Heatr6	UTSW	11	83,646,599 (GRCm39)	missense	probably damaging	0.99
R4532:Heatr6	UTSW	11	83,660,498 (GRCm39)	missense	probably damaging	1.00
R4576:Heatr6	UTSW	11	83,655,826 (GRCm39)	missense	probably benign	0.08
R4724:Heatr6	UTSW	11	83,670,374 (GRCm39)	nonsense	probably null
R4825:Heatr6	UTSW	11	83,649,148 (GRCm39)	missense	probably damaging	1.00
R5489:Heatr6	UTSW	11	83,665,258 (GRCm39)	missense	probably damaging	1.00
R5970:Heatr6	UTSW	11	83,644,544 (GRCm39)	unclassified	probably benign
R6136:Heatr6	UTSW	11	83,663,329 (GRCm39)	missense	possibly damaging	0.94
R6145:Heatr6	UTSW	11	83,656,962 (GRCm39)	missense	probably damaging	1.00
R6649:Heatr6	UTSW	11	83,650,191 (GRCm39)	missense	probably benign	0.01
R6653:Heatr6	UTSW	11	83,650,191 (GRCm39)	missense	probably benign	0.01
R6791:Heatr6	UTSW	11	83,649,167 (GRCm39)	missense	probably benign
R6865:Heatr6	UTSW	11	83,659,966 (GRCm39)	missense	probably damaging	1.00
R7154:Heatr6	UTSW	11	83,668,067 (GRCm39)	missense	probably benign	0.05
R7385:Heatr6	UTSW	11	83,650,161 (GRCm39)	missense	probably damaging	0.96
R7473:Heatr6	UTSW	11	83,672,217 (GRCm39)	missense	probably damaging	1.00
R7959:Heatr6	UTSW	11	83,672,189 (GRCm39)	nonsense	probably null
R8034:Heatr6	UTSW	11	83,644,735 (GRCm39)	missense	probably benign	0.01
R8202:Heatr6	UTSW	11	83,650,234 (GRCm39)	missense	possibly damaging	0.53
R8398:Heatr6	UTSW	11	83,672,164 (GRCm39)	missense	probably benign	0.01
R8472:Heatr6	UTSW	11	83,656,679 (GRCm39)	missense	probably benign	0.34
R8704:Heatr6	UTSW	11	83,668,104 (GRCm39)	missense	probably benign	0.09
R9604:Heatr6	UTSW	11	83,668,188 (GRCm39)	missense	probably damaging	0.99
X0014:Heatr6	UTSW	11	83,672,076 (GRCm39)	missense	probably damaging	0.97
Z1177:Heatr6	UTSW	11	83,672,208 (GRCm39)	missense	probably damaging	1.00
Z1177:Heatr6	UTSW	11	83,656,907 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGGAACTGCAGGATTGACAC -3'
(R):5'- CAGAGCTTCCGTGAACACAG -3'

Sequencing Primer
(F):5'- TGAGCTCTGTAATGAAGCCC -3'
(R):5'- TTCCGTGAACACAGGACGG -3'

Posted On

2015-01-11