Mutagenetix > Incidental Mutation

Incidental Mutation 'R5060:Heatr9'

386572

Institutional Source

Beutler Lab

Gene Symbol

Heatr9

Ensembl Gene

ENSMUSG00000018925

Gene Name

HEAT repeat containing 9

Synonyms

Gm11435

MMRRC Submission

042650-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5060 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83402562-83413001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83403258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 427 (E427G)

Ref Sequence

ENSEMBL: ENSMUSP00000019069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019069]

AlphaFold

Q5QNV8

Predicted Effect

probably benign
Transcript: ENSMUST00000019069
AA Change: E427G

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000019069
Gene: ENSMUSG00000018925
AA Change: E427G

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	111	461	2e-13	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,474,107 (GRCm39)	L17Q	probably damaging	Het
Abca6	A	G	11: 110,110,430 (GRCm39)	V573A	possibly damaging	Het
Abcc9	A	G	6: 142,571,836 (GRCm39)		probably benign	Het
Actg1	A	G	11: 120,237,839 (GRCm39)	S234P	probably benign	Het
Acvr2a	A	G	2: 48,780,311 (GRCm39)	D177G	probably damaging	Het
Adamts12	T	C	15: 11,300,054 (GRCm39)	C914R	probably damaging	Het
Adprhl1	A	G	8: 13,298,621 (GRCm39)	I103T	possibly damaging	Het
Als2cl	C	T	9: 110,713,205 (GRCm39)	L32F	probably damaging	Het
Ank2	T	C	3: 126,739,570 (GRCm39)		probably benign	Het
Ankrd52	T	A	10: 128,225,710 (GRCm39)	S959R	possibly damaging	Het
Bnc2	C	A	4: 84,449,872 (GRCm39)	A122S	probably benign	Het
Cert1	A	T	13: 96,739,663 (GRCm39)	K226N	probably benign	Het
Cfap54	C	T	10: 92,875,013 (GRCm39)	V443M	probably damaging	Het
Cilk1	C	T	9: 78,060,978 (GRCm39)	T208I	probably benign	Het
Clca4b	T	A	3: 144,617,267 (GRCm39)	R794S	probably damaging	Het
Cyp2c65	T	C	19: 39,049,514 (GRCm39)	L14P	unknown	Het
Ggt5	T	C	10: 75,440,608 (GRCm39)	M243T	probably benign	Het
Gmds	A	G	13: 32,124,482 (GRCm39)	I292T	probably benign	Het
Gpcpd1	A	T	2: 132,386,355 (GRCm39)	V341E	probably damaging	Het
Grm3	A	G	5: 9,620,167 (GRCm39)	F359S	probably damaging	Het
Hcn1	A	T	13: 118,010,441 (GRCm39)	K340*	probably null	Het
Kif26b	G	A	1: 178,358,195 (GRCm39)	G102D	unknown	Het
Mark3	T	C	12: 111,584,760 (GRCm39)	F119L	probably damaging	Het
Melk	T	C	4: 44,350,959 (GRCm39)	V500A	probably benign	Het
Mrpl41	A	G	2: 24,864,295 (GRCm39)	F126L	probably damaging	Het
Or10c1	C	A	17: 37,522,307 (GRCm39)	A146S	probably benign	Het
Or6c3b	C	T	10: 129,527,699 (GRCm39)	M70I	probably benign	Het
Pax7	A	T	4: 139,506,928 (GRCm39)	S372T	probably benign	Het
Pax7	A	T	4: 139,556,906 (GRCm39)	I118N	probably damaging	Het
Plcl1	G	T	1: 55,735,671 (GRCm39)	M337I	possibly damaging	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Rabgef1	A	G	5: 130,240,844 (GRCm39)	Y321C	probably damaging	Het
Rhobtb3	A	C	13: 76,061,389 (GRCm39)	L252R	probably benign	Het
Rlf	A	G	4: 121,004,063 (GRCm39)	V1639A	probably benign	Het
Tff1	A	G	17: 31,381,682 (GRCm39)	V65A	probably damaging	Het
Trpm4	G	T	7: 44,971,258 (GRCm39)	D222E	probably damaging	Het
Ttn	A	T	2: 76,643,741 (GRCm39)	D13162E	probably damaging	Het
Unc5d	A	T	8: 29,209,723 (GRCm39)	S466T	probably benign	Het
Vmn1r73	A	G	7: 11,490,683 (GRCm39)	Y167C	probably damaging	Het
Vwde	C	T	6: 13,208,323 (GRCm39)		probably null	Het
Xpr1	T	C	1: 155,204,430 (GRCm39)		probably null	Het
Zbtb40	A	G	4: 136,728,604 (GRCm39)	V413A	possibly damaging	Het

Other mutations in Heatr9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Heatr9	APN	11	83,409,651 (GRCm39)	missense	probably benign	0.00
IGL02832:Heatr9	APN	11	83,409,672 (GRCm39)	splice site	probably benign
IGL03325:Heatr9	APN	11	83,404,085 (GRCm39)	splice site	probably null
R0084:Heatr9	UTSW	11	83,403,721 (GRCm39)	splice site	probably benign
R0243:Heatr9	UTSW	11	83,404,164 (GRCm39)	missense	possibly damaging	0.69
R0326:Heatr9	UTSW	11	83,405,365 (GRCm39)	missense	probably damaging	1.00
R0589:Heatr9	UTSW	11	83,405,516 (GRCm39)	splice site	probably benign
R1386:Heatr9	UTSW	11	83,409,651 (GRCm39)	missense	probably benign	0.00
R1914:Heatr9	UTSW	11	83,409,035 (GRCm39)	missense	possibly damaging	0.74
R1915:Heatr9	UTSW	11	83,409,035 (GRCm39)	missense	possibly damaging	0.74
R4078:Heatr9	UTSW	11	83,403,254 (GRCm39)	missense	probably benign	0.24
R4756:Heatr9	UTSW	11	83,407,475 (GRCm39)	missense	probably damaging	1.00
R4789:Heatr9	UTSW	11	83,410,018 (GRCm39)	missense	probably benign	0.06
R4999:Heatr9	UTSW	11	83,409,618 (GRCm39)	missense	possibly damaging	0.93
R5506:Heatr9	UTSW	11	83,405,592 (GRCm39)	missense	possibly damaging	0.86
R5874:Heatr9	UTSW	11	83,405,426 (GRCm39)	missense	probably benign	0.36
R5922:Heatr9	UTSW	11	83,403,193 (GRCm39)	critical splice donor site	probably null
R6322:Heatr9	UTSW	11	83,407,538 (GRCm39)	missense	possibly damaging	0.51
R7007:Heatr9	UTSW	11	83,411,446 (GRCm39)	missense	possibly damaging	0.85
R7431:Heatr9	UTSW	11	83,410,094 (GRCm39)	missense	probably damaging	1.00
R7790:Heatr9	UTSW	11	83,409,019 (GRCm39)	missense	probably damaging	1.00
R7911:Heatr9	UTSW	11	83,403,234 (GRCm39)	missense	probably damaging	1.00
R8154:Heatr9	UTSW	11	83,402,703 (GRCm39)	missense	possibly damaging	0.87
R9248:Heatr9	UTSW	11	83,409,281 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CCCAAGGAATCAAGCCAGTG -3'
(R):5'- ACAGAAAAGGTCTCCACTCTG -3'

Sequencing Primer
(F):5'- CAAGCCAGTGATTCTTCAGGTCAG -3'
(R):5'- GGTCTCCACTCTGATAAACATTGGG -3'

Posted On

2016-06-06