Mutagenetix > Incidental Mutation

Incidental Mutation 'R5548:Heatr5a'

435003

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R5548 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 52005734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 80 (Y80*)

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040583]

AlphaFold

Q5PRF0

Predicted Effect

probably null
Transcript: ENSMUST00000040583
AA Change: Y80*

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: Y80*

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
SCOP:d1qbkb_	112	658	6e-13	SMART
low complexity region	1063	1078	N/A	INTRINSIC
low complexity region	1081	1095	N/A	INTRINSIC
low complexity region	1110	1120	N/A	INTRINSIC
low complexity region	1122	1135	N/A	INTRINSIC
low complexity region	1496	1507	N/A	INTRINSIC
low complexity region	1722	1735	N/A	INTRINSIC
low complexity region	1925	1936	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218254

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,849,863 (GRCm39)	D191G	probably benign	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Cdh12	C	T	15: 21,492,740 (GRCm39)	T253I	probably damaging	Het
Cox4i2	C	T	2: 152,599,011 (GRCm39)	T56I	possibly damaging	Het
Cpsf1	A	C	15: 76,481,527 (GRCm39)	D1141E	possibly damaging	Het
Dennd5b	T	C	6: 148,920,847 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,128,672 (GRCm39)	D1194E	probably damaging	Het
Dst	C	A	1: 34,228,409 (GRCm39)	H1676N	probably benign	Het
Eif4a3l1	T	C	6: 136,306,568 (GRCm39)	V343A	probably damaging	Het
Fitm1	A	G	14: 55,813,154 (GRCm39)	T6A	probably benign	Het
Galnt5	T	A	2: 57,904,922 (GRCm39)	V495E	probably damaging	Het
Gtf2h2	C	A	13: 100,617,544 (GRCm39)	R206L	possibly damaging	Het
Il17ra	A	G	6: 120,455,434 (GRCm39)	R348G	probably benign	Het
Mmp28	A	T	11: 83,334,733 (GRCm39)	Y340*	probably null	Het
Mrgprb8	A	T	7: 48,038,778 (GRCm39)	T150S	probably benign	Het
Ms4a10	A	T	19: 10,945,484 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Mybbp1a	T	C	11: 72,336,998 (GRCm39)	L578P	probably damaging	Het
N4bp2l1	G	A	5: 150,496,420 (GRCm39)	R65*	probably null	Het
Nhsl3	GGTG	GGTGTG	4: 129,117,773 (GRCm39)		probably null	Het
Nup188	T	A	2: 30,216,505 (GRCm39)	Y770N	probably damaging	Het
Or8b3b	T	C	9: 38,584,600 (GRCm39)	I60V	probably benign	Het
Or8s5	T	A	15: 98,238,253 (GRCm39)	T206S	probably benign	Het
Pbrm1	T	A	14: 30,827,381 (GRCm39)	C1257S	probably damaging	Het
Pcdh8	T	C	14: 80,004,942 (GRCm39)	T1028A	probably damaging	Het
Pramel16	C	T	4: 143,676,550 (GRCm39)	E185K	probably benign	Het
Qars1	C	T	9: 108,390,117 (GRCm39)	P348S	possibly damaging	Het
Qrfpr	T	A	3: 36,276,075 (GRCm39)	Q105L	possibly damaging	Het
Slc10a5	A	T	3: 10,399,377 (GRCm39)	Y428N	probably benign	Het
Slc16a5	A	T	11: 115,360,630 (GRCm39)	Y271F	probably benign	Het
Slc1a4	T	A	11: 20,254,429 (GRCm39)	Q479L	possibly damaging	Het
Slc38a1	C	T	15: 96,488,355 (GRCm39)	G143S	probably damaging	Het
Susd1	G	A	4: 59,369,577 (GRCm39)	T364M	probably benign	Het
Tmem132c	T	A	5: 127,628,587 (GRCm39)	Y496*	probably null	Het
Tmem63b	A	G	17: 45,975,884 (GRCm39)	I523T	probably damaging	Het
Tnrc6c	T	C	11: 117,651,669 (GRCm39)	S1731P	possibly damaging	Het
Ttll3	T	A	6: 113,370,078 (GRCm39)	W139R	probably damaging	Het
Ubr4	C	T	4: 139,187,401 (GRCm39)	T3823M	probably damaging	Het
Vangl1	T	A	3: 102,091,762 (GRCm39)	D108V	possibly damaging	Het
Vmn1r120	T	C	7: 20,787,482 (GRCm39)	I76M	probably benign	Het
Wdr17	A	G	8: 55,156,886 (GRCm39)	Y17H	probably damaging	Het
Xkr4	C	T	1: 3,287,153 (GRCm39)	A346T	probably damaging	Het
Zfp267	C	G	3: 36,219,640 (GRCm39)	H554Q	possibly damaging	Het
Zfp600	T	A	4: 146,133,019 (GRCm39)	S562R	possibly damaging	Het

Other mutations in Heatr5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Heatr5a	APN	12	51,935,684 (GRCm39)	missense	probably damaging	0.99
IGL01397:Heatr5a	APN	12	51,941,152 (GRCm39)	missense	possibly damaging	0.89
IGL01481:Heatr5a	APN	12	52,002,208 (GRCm39)	missense	probably damaging	1.00
IGL01684:Heatr5a	APN	12	52,002,294 (GRCm39)	missense	probably benign	0.36
IGL01766:Heatr5a	APN	12	51,936,447 (GRCm39)	missense	probably benign	0.15
IGL01799:Heatr5a	APN	12	51,944,618 (GRCm39)	missense	probably benign	0.17
IGL02007:Heatr5a	APN	12	51,962,941 (GRCm39)	missense	probably damaging	1.00
IGL02093:Heatr5a	APN	12	51,962,858 (GRCm39)	missense	possibly damaging	0.68
IGL02205:Heatr5a	APN	12	51,924,120 (GRCm39)	missense	probably damaging	1.00
IGL02450:Heatr5a	APN	12	51,992,213 (GRCm39)	missense	probably benign	0.02
IGL02565:Heatr5a	APN	12	51,997,882 (GRCm39)	missense	possibly damaging	0.54
IGL02707:Heatr5a	APN	12	51,968,149 (GRCm39)	missense	probably benign	0.01
IGL02735:Heatr5a	APN	12	51,961,804 (GRCm39)	missense	probably damaging	0.99
IGL03160:Heatr5a	APN	12	51,931,279 (GRCm39)	splice site	probably benign
F5770:Heatr5a	UTSW	12	51,928,061 (GRCm39)	splice site	probably benign
R0034:Heatr5a	UTSW	12	51,971,955 (GRCm39)	missense	probably damaging	1.00
R0127:Heatr5a	UTSW	12	51,972,188 (GRCm39)	missense	probably benign
R0184:Heatr5a	UTSW	12	51,956,752 (GRCm39)	missense	probably benign	0.00
R0362:Heatr5a	UTSW	12	51,935,644 (GRCm39)	missense	probably damaging	1.00
R0567:Heatr5a	UTSW	12	51,956,872 (GRCm39)	missense	probably damaging	1.00
R0591:Heatr5a	UTSW	12	51,956,884 (GRCm39)	splice site	probably benign
R0736:Heatr5a	UTSW	12	51,943,344 (GRCm39)	critical splice donor site	probably null
R1532:Heatr5a	UTSW	12	51,999,301 (GRCm39)	missense	probably damaging	0.99
R1914:Heatr5a	UTSW	12	51,952,250 (GRCm39)	missense	probably damaging	1.00
R1956:Heatr5a	UTSW	12	51,992,202 (GRCm39)	critical splice donor site	probably null
R1978:Heatr5a	UTSW	12	51,986,441 (GRCm39)	missense	possibly damaging	0.77
R2044:Heatr5a	UTSW	12	52,002,186 (GRCm39)	missense	probably benign	0.19
R2263:Heatr5a	UTSW	12	51,962,933 (GRCm39)	missense	probably damaging	0.97
R2265:Heatr5a	UTSW	12	51,940,528 (GRCm39)	missense	possibly damaging	0.68
R2267:Heatr5a	UTSW	12	51,940,528 (GRCm39)	missense	possibly damaging	0.68
R2268:Heatr5a	UTSW	12	51,940,528 (GRCm39)	missense	possibly damaging	0.68
R2269:Heatr5a	UTSW	12	51,940,528 (GRCm39)	missense	possibly damaging	0.68
R2842:Heatr5a	UTSW	12	52,002,260 (GRCm39)	splice site	probably null
R2842:Heatr5a	UTSW	12	52,002,261 (GRCm39)	missense	probably null	1.00
R3033:Heatr5a	UTSW	12	51,997,821 (GRCm39)	nonsense	probably null
R4303:Heatr5a	UTSW	12	52,003,008 (GRCm39)	missense	probably benign	0.01
R4675:Heatr5a	UTSW	12	51,924,130 (GRCm39)	missense	probably benign	0.17
R4718:Heatr5a	UTSW	12	51,962,946 (GRCm39)	missense	possibly damaging	0.95
R4807:Heatr5a	UTSW	12	51,924,303 (GRCm39)	missense	probably damaging	1.00
R5114:Heatr5a	UTSW	12	52,003,020 (GRCm39)	nonsense	probably null
R5229:Heatr5a	UTSW	12	51,994,761 (GRCm39)	missense	probably benign	0.33
R5411:Heatr5a	UTSW	12	51,935,026 (GRCm39)	missense	probably damaging	1.00
R5603:Heatr5a	UTSW	12	51,924,358 (GRCm39)	missense	probably benign	0.26
R5631:Heatr5a	UTSW	12	52,002,310 (GRCm39)	missense	probably benign	0.22
R5742:Heatr5a	UTSW	12	52,002,335 (GRCm39)	nonsense	probably null
R5969:Heatr5a	UTSW	12	52,005,823 (GRCm39)	missense	probably benign
R6020:Heatr5a	UTSW	12	51,931,110 (GRCm39)	missense	probably benign	0.01
R6234:Heatr5a	UTSW	12	51,924,237 (GRCm39)	missense	possibly damaging	0.69
R6352:Heatr5a	UTSW	12	51,997,949 (GRCm39)	missense	possibly damaging	0.88
R6798:Heatr5a	UTSW	12	51,928,048 (GRCm39)	missense	probably benign	0.01
R6815:Heatr5a	UTSW	12	52,002,291 (GRCm39)	missense	possibly damaging	0.89
R7059:Heatr5a	UTSW	12	51,935,017 (GRCm39)	missense	probably damaging	0.98
R7143:Heatr5a	UTSW	12	52,008,251 (GRCm39)	missense	probably benign	0.09
R7178:Heatr5a	UTSW	12	51,971,925 (GRCm39)	missense	probably damaging	0.99
R7291:Heatr5a	UTSW	12	51,972,122 (GRCm39)	missense	probably damaging	0.97
R7454:Heatr5a	UTSW	12	52,008,326 (GRCm39)	missense	probably benign	0.20
R7511:Heatr5a	UTSW	12	51,926,217 (GRCm39)	missense	possibly damaging	0.94
R7636:Heatr5a	UTSW	12	51,999,341 (GRCm39)	missense	probably damaging	1.00
R7636:Heatr5a	UTSW	12	51,934,979 (GRCm39)	missense	probably damaging	1.00
R7665:Heatr5a	UTSW	12	52,008,313 (GRCm39)	missense	probably damaging	1.00
R8088:Heatr5a	UTSW	12	51,994,779 (GRCm39)	missense	possibly damaging	0.85
R8205:Heatr5a	UTSW	12	52,005,792 (GRCm39)	missense	probably benign	0.05
R8212:Heatr5a	UTSW	12	51,946,012 (GRCm39)	missense	probably benign	0.00
R8213:Heatr5a	UTSW	12	51,938,226 (GRCm39)	missense	probably damaging	0.96
R8323:Heatr5a	UTSW	12	52,002,289 (GRCm39)	missense	probably benign	0.02
R8326:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R8339:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R8395:Heatr5a	UTSW	12	51,962,961 (GRCm39)	missense
R8410:Heatr5a	UTSW	12	51,984,903 (GRCm39)	missense	probably benign	0.01
R8676:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R8834:Heatr5a	UTSW	12	51,956,739 (GRCm39)	critical splice donor site	probably null
R8916:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R9057:Heatr5a	UTSW	12	51,986,420 (GRCm39)	missense	probably damaging	1.00
R9248:Heatr5a	UTSW	12	51,963,026 (GRCm39)	missense
R9287:Heatr5a	UTSW	12	51,967,260 (GRCm39)	missense	probably damaging	0.97
R9332:Heatr5a	UTSW	12	51,946,068 (GRCm39)	missense	probably benign	0.33
R9454:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R9515:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R9654:Heatr5a	UTSW	12	52,005,778 (GRCm39)	missense	probably damaging	1.00
V7732:Heatr5a	UTSW	12	51,952,107 (GRCm39)	missense	possibly damaging	0.65
Z1088:Heatr5a	UTSW	12	51,997,859 (GRCm39)	missense	probably benign	0.29
Z1088:Heatr5a	UTSW	12	51,938,187 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCTTAATTTCAAAACCAACTGTC -3'
(R):5'- AACTGTGAGCCCCAGTCAG -3'

Sequencing Primer
(F):5'- ATGTTTAACTTACAGTTTGGTGG -3'
(R):5'- CAGAACAGTGCTGCGTGTTC -3'

Posted On

2016-10-24