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

2700008B19Rik

MMRRC Submission

040968-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83644522-83674580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83646599 bp (GRCm39)

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: 148,029,449 (GRCm39)	D473G	probably damaging	Het
Abca1	T	A	4: 53,044,144 (GRCm39)	Q1826L	probably damaging	Het
Apob	G	A	12: 8,065,390 (GRCm39)	V4087I	probably benign	Het
Atp10b	G	A	11: 43,150,363 (GRCm39)	A1354T	probably benign	Het
Baz1a	A	G	12: 54,976,404 (GRCm39)	V424A	probably benign	Het
Cdc20b	G	A	13: 113,200,819 (GRCm39)	D180N	probably benign	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Ddb1	A	G	19: 10,605,171 (GRCm39)	D1053G	probably benign	Het
Ddx39a	T	A	8: 84,448,863 (GRCm39)	M246K	probably benign	Het
Dip2a	G	A	10: 76,114,441 (GRCm39)	T1013M	probably damaging	Het
Edar	G	T	10: 58,445,769 (GRCm39)	T265N	possibly damaging	Het
Fcgbpl1	T	C	7: 27,852,410 (GRCm39)	V1311A	possibly damaging	Het
Gbp8	T	A	5: 105,179,104 (GRCm39)	I132F	probably damaging	Het
Gga1	A	G	15: 78,775,691 (GRCm39)	D382G	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm10518	C	A	1: 179,631,378 (GRCm39)		probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
H2-Eb1	T	A	17: 34,533,342 (GRCm39)	L188Q	probably damaging	Het
Hnf1a	T	A	5: 115,108,633 (GRCm39)	N91Y	probably damaging	Het
Ints10	C	T	8: 69,280,003 (GRCm39)	S710F	probably damaging	Het
Kazn	C	T	4: 141,834,215 (GRCm39)	E614K	unknown	Het
Kif26a	T	A	12: 112,146,350 (GRCm39)	M1812K	probably benign	Het
Lmo7	A	T	14: 102,139,713 (GRCm39)	K488*	probably null	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Met	A	G	6: 17,533,983 (GRCm39)	T645A	probably benign	Het
Mpp4	T	C	1: 59,185,903 (GRCm39)		probably null	Het
Mycl	A	T	4: 122,890,632 (GRCm39)		probably null	Het
Ncbp1	G	A	4: 46,147,483 (GRCm39)	R110H	probably damaging	Het
Nfasc	G	T	1: 132,538,043 (GRCm39)		probably benign	Het
Nup35	A	G	2: 80,486,320 (GRCm39)	I212V	probably benign	Het
Or2y8	T	G	11: 52,035,961 (GRCm39)	Y132S	probably damaging	Het
Or4p20	A	G	2: 88,253,967 (GRCm39)	M134T	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcgf5	G	A	19: 36,420,311 (GRCm39)	S181N	probably damaging	Het
Plk2	C	T	13: 110,536,400 (GRCm39)	T617I	probably damaging	Het
Polq	A	T	16: 36,913,182 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Pramel24	T	C	4: 143,453,692 (GRCm39)	S267P	probably benign	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Prune1	T	C	3: 95,169,542 (GRCm39)	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,004,840 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall3	G	A	18: 81,014,697 (GRCm39)	A1005V	probably benign	Het
Samd15	T	G	12: 87,247,406 (GRCm39)	N30K	probably benign	Het
Scn8a	A	T	15: 100,911,294 (GRCm39)	K905*	probably null	Het
Scrib	G	A	15: 75,923,322 (GRCm39)	R1245W	possibly damaging	Het
Skint4	C	T	4: 111,981,811 (GRCm39)	S260L	probably benign	Het
Slc29a2	A	T	19: 5,079,481 (GRCm39)	M339L	possibly damaging	Het
Slx9	T	C	10: 77,350,164 (GRCm39)	R75G	possibly damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Synpo2	T	C	3: 122,907,927 (GRCm39)	D463G	possibly damaging	Het
Taf4	C	A	2: 179,573,805 (GRCm39)	G688C	probably damaging	Het
Tasor2	A	G	13: 3,623,507 (GRCm39)	S2148P	probably benign	Het
Tpte	T	A	8: 22,856,000 (GRCm39)	V600E	probably damaging	Het
Ttn	A	G	2: 76,651,510 (GRCm39)	V10953A	probably benign	Het
Vav2	T	C	2: 27,178,691 (GRCm39)	Y333C	probably benign	Het
Vav2	A	G	2: 27,181,415 (GRCm39)	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,327,000 (GRCm39)	M1R	probably null	Het
Zfp26	G	A	9: 20,353,525 (GRCm39)	P88L	probably benign	Het
Zfp324	T	C	7: 12,704,794 (GRCm39)	F328L	probably damaging	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
R3019:Heatr6	UTSW	11	83,669,658 (GRCm39)	splice site	probably null
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'- GTGTGGAACAGTCAGTGAGC -3'
(R):5'- ACTGACTTGGGTGTAGCAAC -3'

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

Posted On

2015-04-30