Mutagenetix > Incidental Mutation

Incidental Mutation 'R5922:Heatr9'

461641

Institutional Source

Beutler Lab

Gene Symbol

Heatr9

Ensembl Gene

ENSMUSG00000018925

Gene Name

HEAT repeat containing 9

Synonyms

Gm11435

MMRRC Submission

043240-MU

Accession Numbers

Essential gene?

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

Stock #

R5922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83402562-83413001 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 83403193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019069 (fasta)

Gene Model

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

AlphaFold

Q5QNV8

Predicted Effect

probably null
Transcript: ENSMUST00000019069

SMART Domains

Protein: ENSMUSP00000019069
Gene: ENSMUSG00000018925

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atr	A	G	9: 95,785,735 (GRCm39)	D1429G	probably benign	Het
Brinp2	A	T	1: 158,076,925 (GRCm39)	V390D	possibly damaging	Het
Cpn1	T	C	19: 43,974,532 (GRCm39)	S66G	probably damaging	Het
Dnal1	C	A	12: 84,173,746 (GRCm39)	L55M	probably damaging	Het
Dus2	G	A	8: 106,780,037 (GRCm39)	R453Q	possibly damaging	Het
Efcab5	T	C	11: 77,079,570 (GRCm39)	T59A	probably benign	Het
Elmo1	A	G	13: 20,789,339 (GRCm39)	D685G	probably damaging	Het
Ern1	T	C	11: 106,312,556 (GRCm39)	E275G	probably damaging	Het
Etnk2	A	G	1: 133,291,623 (GRCm39)		probably null	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Gjb2	A	G	14: 57,337,755 (GRCm39)	M151T	probably benign	Het
Herpud2	G	A	9: 25,020,280 (GRCm39)	L359F	probably benign	Het
Hpx	C	T	7: 105,244,831 (GRCm39)	R118H	probably damaging	Het
Hyal2	A	G	9: 107,448,106 (GRCm39)	Y253C	probably damaging	Het
Igkv14-130	T	C	6: 67,768,206 (GRCm39)	C22R	probably damaging	Het
Ms4a6b	T	A	19: 11,497,743 (GRCm39)	I14N	possibly damaging	Het
Myb	T	A	10: 21,028,826 (GRCm39)	I91F	probably damaging	Het
Myh6	C	T	14: 55,183,931 (GRCm39)	D1668N	probably damaging	Het
Noc2l	C	T	4: 156,325,770 (GRCm39)	Q182*	probably null	Het
Nsd1	A	G	13: 55,395,288 (GRCm39)	N1066S	probably benign	Het
Nup98	A	G	7: 101,803,224 (GRCm39)	Y659H	probably damaging	Het
Nutm1	T	C	2: 112,079,659 (GRCm39)	E752G	possibly damaging	Het
Paqr6	G	T	3: 88,273,544 (GRCm39)	A154S	probably benign	Het
Pdlim7	G	T	13: 55,656,768 (GRCm39)	T62K	probably damaging	Het
Pibf1	A	G	14: 99,374,524 (GRCm39)	D321G	probably benign	Het
Plrg1	T	A	3: 82,964,155 (GRCm39)	N29K	possibly damaging	Het
Scimp	A	C	11: 70,691,642 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,305,651 (GRCm39)	N2251S	probably benign	Het
Sec61a2	A	T	2: 5,879,134 (GRCm39)	D291E	possibly damaging	Het
Serpina3i	A	G	12: 104,232,766 (GRCm39)	K224E	probably benign	Het
Spz1	A	T	13: 92,712,106 (GRCm39)	D123E	possibly damaging	Het
St14	A	T	9: 31,041,200 (GRCm39)		probably benign	Het
Ush1c	A	T	7: 45,853,552 (GRCm39)		probably null	Het
Usp54	T	C	14: 20,602,139 (GRCm39)		probably null	Het
Zfhx3	C	T	8: 109,673,330 (GRCm39)	T1460M	probably damaging	Het
Zfp712	G	T	13: 67,189,668 (GRCm39)	N286K	probably benign	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
R5060:Heatr9	UTSW	11	83,403,258 (GRCm39)	missense	probably benign	0.20
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
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'- TTGTGCTCAGGCTGGGAAAG -3'
(R):5'- CCGCATCGCTCTATAGGTAATC -3'

Sequencing Primer
(F):5'- CTCAGGCTGGGAAAGGAATTAGC -3'
(R):5'- GCATCGCTCTATAGGTAATCAGGTC -3'

Posted On

2017-02-28