Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01905:Heatr6'

179647

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Heatr6

Ensembl Gene

ENSMUSG00000000976

Gene Name

HEAT repeat containing 6

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

IGL01905

Quality Score

Status

Chromosome

Chromosomal Location

83753696-83783754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83781712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1182 (S1182L)

Ref Sequence

ENSEMBL: ENSMUSP00000001002 (fasta)

Gene Model

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

AlphaFold

Q6P1G0

Predicted Effect

probably benign
Transcript: ENSMUST00000001002
AA Change: S1182L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: S1182L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 79,067,748	C245S	probably damaging	Het
Apol10b	A	G	15: 77,585,359	I206T	possibly damaging	Het
Bax	A	T	7: 45,466,118	I31N	probably damaging	Het
Ccdc116	C	A	16: 17,142,561	V131L	probably damaging	Het
Ces2b	C	A	8: 104,833,962	N136K	probably damaging	Het
Csnk1d	A	T	11: 120,973,963	I65N	probably damaging	Het
Fam167b	A	G	4: 129,577,099	M152T	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Lpcat4	T	C	2: 112,243,043		probably null	Het
Myh8	T	C	11: 67,284,651	Y311H	possibly damaging	Het
Naaladl1	G	A	19: 6,115,547	D744N	possibly damaging	Het
Pik3r4	C	A	9: 105,644,878	Y214*	probably null	Het
Proca1	A	G	11: 78,204,890	H29R	probably damaging	Het
Prrc2c	T	C	1: 162,705,329		probably benign	Het
Rcor3	G	A	1: 192,101,002	P489S	probably damaging	Het
Rela	A	T	19: 5,645,564	N337I	probably benign	Het
Rnf123	C	T	9: 108,071,370		probably benign	Het
Sept9	T	A	11: 117,218,889	S12T	probably benign	Het
Serpina1c	A	T	12: 103,897,059	L294Q	possibly damaging	Het
Slc12a5	A	G	2: 164,990,381	D740G	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfp473	T	C	7: 44,733,727	K394R	probably benign	Het
Zkscan7	C	T	9: 122,890,761	P171S	possibly damaging	Het
Zmynd19	T	A	2: 24,951,529	F36L	probably benign	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
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
R0537:Heatr6	UTSW	11	83779464	nonsense	probably null
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

Posted On

2014-05-07