Mutagenetix > Incidental Mutation

Incidental Mutation 'R8326:Heatr5a'

644123

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

MMRRC Submission

067726-MU

Accession Numbers

Essential gene?

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

Stock #

R8326 (G1)

Quality Score

108.491

Status

Not validated

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA to AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA at 51934702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

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

AlphaFold

Q5PRF0

Predicted Effect

probably benign
Transcript: ENSMUST00000040583

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,533,190 (GRCm39)	T35A		Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Akt3	T	C	1: 176,877,611 (GRCm39)	N386D	possibly damaging	Het
Aox1	A	T	1: 58,335,046 (GRCm39)	H282L	probably benign	Het
Asb7	G	T	7: 66,309,675 (GRCm39)	N180K	possibly damaging	Het
Cdh23	T	C	10: 60,274,591 (GRCm39)	S500G	possibly damaging	Het
Cubn	C	T	2: 13,311,274 (GRCm39)	E3084K	probably benign	Het
Cyp2r1	G	A	7: 114,152,405 (GRCm39)	T184I	probably damaging	Het
Dclk3	A	G	9: 111,296,602 (GRCm39)	R49G	probably damaging	Het
Dcp1a	C	T	14: 30,241,527 (GRCm39)	Q446*	probably null	Het
Dnah9	A	G	11: 66,008,452 (GRCm39)	I791T	probably benign	Het
Dock10	A	T	1: 80,583,892 (GRCm39)	V189D	possibly damaging	Het
Dsg4	A	G	18: 20,582,788 (GRCm39)	E142G	probably benign	Het
Dsp	A	T	13: 38,375,611 (GRCm39)	D1132V	probably damaging	Het
Dync2h1	A	G	9: 7,147,771 (GRCm39)	M953T	probably benign	Het
Ecpas	G	T	4: 58,847,093 (GRCm39)	Q490K	probably damaging	Het
Ero1a	T	C	14: 45,531,805 (GRCm39)	H251R	probably damaging	Het
Fer1l5	A	G	1: 36,415,841 (GRCm39)	Y124C	probably benign	Het
Frmpd2	C	A	14: 33,232,992 (GRCm39)	P404Q	probably damaging	Het
Gpr87	G	T	3: 59,102,395 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,305,319 (GRCm39)	Y1217H	unknown	Het
Irf9	T	A	14: 55,843,210 (GRCm39)	D137E	probably benign	Het
Jup	G	T	11: 100,272,571 (GRCm39)	N280K	probably benign	Het
Kcna7	T	C	7: 45,058,765 (GRCm39)	F351L	probably damaging	Het
Klk13	A	T	7: 43,376,136 (GRCm39)	R270S	probably benign	Het
Msh6	C	T	17: 88,294,340 (GRCm39)	R1032C	probably damaging	Het
Myo5a	T	C	9: 75,125,271 (GRCm39)	V1855A	probably damaging	Het
Neb	T	C	2: 52,111,714 (GRCm39)	T138A	probably damaging	Het
Nfkbie	C	A	17: 45,870,234 (GRCm39)	T193K	probably damaging	Het
Nlrp4b	A	G	7: 10,452,471 (GRCm39)	K613E	probably benign	Het
Obox6	T	C	7: 15,567,481 (GRCm39)	E322G	possibly damaging	Het
Or51ai2	A	G	7: 103,586,809 (GRCm39)	D74G	probably damaging	Het
Or5v1b	T	G	17: 37,841,470 (GRCm39)	S201A	probably benign	Het
Or8b36	T	C	9: 37,938,014 (GRCm39)	M304T	probably benign	Het
Parn	A	T	16: 13,483,835 (GRCm39)	N36K	probably benign	Het
Ppp6r2	A	G	15: 89,164,650 (GRCm39)	E618G	probably benign	Het
Prdm13	A	G	4: 21,679,557 (GRCm39)	L311P	unknown	Het
Prkaa2	T	C	4: 104,893,495 (GRCm39)	T485A	possibly damaging	Het
Prmt2	G	T	10: 76,053,247 (GRCm39)	T256K	probably benign	Het
Rspry1	T	C	8: 95,366,217 (GRCm39)	Y362H	probably damaging	Het
Slc16a14	A	T	1: 84,890,066 (GRCm39)	I413N	possibly damaging	Het
Slc8a1	T	C	17: 81,715,535 (GRCm39)	T821A	probably damaging	Het
Spock2	A	T	10: 59,962,777 (GRCm39)	K276N	probably damaging	Het
Synj1	A	T	16: 90,785,084 (GRCm39)	N257K	probably benign	Het
Taar7f	T	C	10: 23,925,811 (GRCm39)	L135P	possibly damaging	Het
Tmem132b	T	C	5: 125,864,618 (GRCm39)	F908S	probably damaging	Het
Tmem202	A	T	9: 59,426,500 (GRCm39)	V222D	probably benign	Het
Trim33	T	A	3: 103,218,770 (GRCm39)	C302*	probably null	Het
Tuba4a	G	A	1: 75,195,265 (GRCm39)	S1L		Het
Tyrp1	G	A	4: 80,768,921 (GRCm39)	E472K	probably benign	Het
V1ra8	A	G	6: 90,180,246 (GRCm39)	I150V	possibly damaging	Het
Vmn2r87	A	T	10: 130,308,180 (GRCm39)	M686K	possibly damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	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
R5548:Heatr5a	UTSW	12	52,005,734 (GRCm39)	nonsense	probably null
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
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'- TTCTTCTAGGACAGTGGCTGGC -3'
(R):5'- AAAGCCGAAGACCCTGTTG -3'

Sequencing Primer
(F):5'- CCCACTGTGGACTGTATATCAGG -3'
(R):5'- CCGAAGACCCTGTTGGAGGAG -3'

Posted On

2020-09-02