Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Heatr6'

314120

Institutional Source

Beutler Lab

Gene Symbol

Heatr6

Ensembl Gene

ENSMUSG00000000976

Gene Name

HEAT repeat containing 6

Synonyms

MMRRC Submission

040968-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83753696-83783754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83755773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 95 (S95G)

Ref Sequence

ENSEMBL: ENSMUSP00000001002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001002] [ENSMUST00000070832]

AlphaFold

Q6P1G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000001002
AA Change: S95G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: S95G

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 benign
Transcript: ENSMUST00000070832

SMART Domains

Protein: ENSMUSP00000064479
Gene: ENSMUSG00000051748

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
Blast:WAP	23	63	4e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127428

Meta Mutation Damage Score

0.0836

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,944,992	D473G	probably damaging	Het
9530053A07Rik	T	C	7: 28,152,985	V1311A	possibly damaging	Het
Abca1	T	A	4: 53,044,144	Q1826L	probably damaging	Het
Apob	G	A	12: 8,015,390	V4087I	probably benign	Het
Atp10b	G	A	11: 43,259,536	A1354T	probably benign	Het
Baz1a	A	G	12: 54,929,619	V424A	probably benign	Het
Cdc20b	G	A	13: 113,064,285	D180N	probably benign	Het
Cep57l1	G	T	10: 41,729,360	R130S	probably damaging	Het
Ddb1	A	G	19: 10,627,807	D1053G	probably benign	Het
Ddx39	T	A	8: 83,722,234	M246K	probably benign	Het
Dip2a	G	A	10: 76,278,607	T1013M	probably damaging	Het
Edar	G	T	10: 58,609,947	T265N	possibly damaging	Het
Fam207a	T	C	10: 77,514,330	R75G	possibly damaging	Het
Fam208b	A	G	13: 3,573,507	S2148P	probably benign	Het
Gbp8	T	A	5: 105,031,238	I132F	probably damaging	Het
Gga1	A	G	15: 78,891,491	D382G	probably benign	Het
Ggps1	T	C	13: 14,053,699	K300E	probably benign	Het
Gm10518	C	A	1: 179,803,813		probably benign	Het
Gm13078	T	C	4: 143,727,122	S267P	probably benign	Het
Gm8074	G	A	9: 78,322,336		noncoding transcript	Het
H2-Eb1	T	A	17: 34,314,368	L188Q	probably damaging	Het
Hnf1a	T	A	5: 114,970,574	N91Y	probably damaging	Het
Ints10	C	T	8: 68,827,351	S710F	probably damaging	Het
Kazn	C	T	4: 142,106,904	E614K	unknown	Het
Kif26a	T	A	12: 112,179,916	M1812K	probably benign	Het
Lmo7	A	T	14: 101,902,277	K488*	probably null	Het
Mad1l1	A	G	5: 140,132,816	S457P	probably damaging	Het
Met	A	G	6: 17,533,984	T645A	probably benign	Het
Mpp4	T	C	1: 59,146,744		probably null	Het
Mycl	A	T	4: 122,996,839		probably null	Het
Ncbp1	G	A	4: 46,147,483	R110H	probably damaging	Het
Nfasc	G	T	1: 132,610,305		probably benign	Het
Nup35	A	G	2: 80,655,976	I212V	probably benign	Het
Olfr1181	A	G	2: 88,423,623	M134T	probably damaging	Het
Olfr1373	T	G	11: 52,145,134	Y132S	probably damaging	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Pcgf5	G	A	19: 36,442,911	S181N	probably damaging	Het
Plk2	C	T	13: 110,399,866	T617I	probably damaging	Het
Polq	A	T	16: 37,092,820		probably null	Het
Ppp1r1a	A	G	15: 103,532,454	L92P	probably damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Prune1	T	C	3: 95,262,231	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,272,643		probably null	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sall3	G	A	18: 80,971,482	A1005V	probably benign	Het
Samd15	T	G	12: 87,200,632	N30K	probably benign	Het
Scn8a	A	T	15: 101,013,413	K905*	probably null	Het
Scrib	G	A	15: 76,051,473	R1245W	possibly damaging	Het
Skint4	C	T	4: 112,124,614	S260L	probably benign	Het
Slc29a2	A	T	19: 5,029,453	M339L	possibly damaging	Het
Spire1	G	T	18: 67,529,031		probably null	Het
Synpo2	T	C	3: 123,114,278	D463G	possibly damaging	Het
Taf4	C	A	2: 179,932,012	G688C	probably damaging	Het
Tpte	T	A	8: 22,365,984	V600E	probably damaging	Het
Ttn	A	G	2: 76,821,166	V10953A	probably benign	Het
Vav2	T	C	2: 27,288,679	Y333C	probably benign	Het
Vav2	A	G	2: 27,291,403	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,436,988	M1R	probably null	Het
Zfp26	G	A	9: 20,442,229	P88L	probably benign	Het
Zfp324	T	C	7: 12,970,867	F328L	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
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
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'- GTGTGGAACAGTCAGTGAGC -3'
(R):5'- ACTGACTTGGGTGTAGCAAC -3'

Sequencing Primer
(F):5'- AACAGTCAGTGAGCTTTTCCG -3'
(R):5'- CTTGGGTGTAGCAACAAACATCTGC -3'

Posted On

2015-04-30