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?

Possibly non essential (E-score: 0.293) question?

Stock #

R8326 (G1)

Quality Score

108.491

Status

Not validated

Chromosome

Chromosomal Location

51875871-51971321 bp(-) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA to AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA at 51887919 bp (GRCm38)

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: 148,827,554	T35A		Het
Adgrv1	C	T	13: 81,445,343	R4175H	probably damaging	Het
AI314180	G	T	4: 58,847,093	Q490K	probably damaging	Het
Akt3	T	C	1: 177,050,045	N386D	possibly damaging	Het
Aox2	A	T	1: 58,295,887	H282L	probably benign	Het
Asb7	G	T	7: 66,659,927	N180K	possibly damaging	Het
Cdh23	T	C	10: 60,438,812	S500G	possibly damaging	Het
Cubn	C	T	2: 13,306,463	E3084K	probably benign	Het
Cyp2r1	G	A	7: 114,553,170	T184I	probably damaging	Het
Dclk3	A	G	9: 111,467,534	R49G	probably damaging	Het
Dcp1a	C	T	14: 30,519,570	Q446*	probably null	Het
Dnah9	A	G	11: 66,117,626	I791T	probably benign	Het
Dock10	A	T	1: 80,606,175	V189D	possibly damaging	Het
Dsg4	A	G	18: 20,449,731	E142G	probably benign	Het
Dsp	A	T	13: 38,191,635	D1132V	probably damaging	Het
Dync2h1	A	G	9: 7,147,771	M953T	probably benign	Het
Ero1l	T	C	14: 45,294,348	H251R	probably damaging	Het
Fer1l5	A	G	1: 36,376,760	Y124C	probably benign	Het
Frmpd2	C	A	14: 33,511,035	P404Q	probably damaging	Het
Gpr87	G	T	3: 59,194,974		probably benign	Het
Gse1	T	C	8: 120,578,580	Y1217H	unknown	Het
Irf9	T	A	14: 55,605,753	D137E	probably benign	Het
Jup	G	T	11: 100,381,745	N280K	probably benign	Het
Kcna7	T	C	7: 45,409,341	F351L	probably damaging	Het
Klk13	A	T	7: 43,726,712	R270S	probably benign	Het
Msh6	C	T	17: 87,986,912	R1032C	probably damaging	Het
Myo5a	T	C	9: 75,217,989	V1855A	probably damaging	Het
Neb	T	C	2: 52,221,702	T138A	probably damaging	Het
Nfkbie	C	A	17: 45,559,308	T193K	probably damaging	Het
Nlrp4b	A	G	7: 10,718,544	K613E	probably benign	Het
Obox6	T	C	7: 15,833,556	E322G	possibly damaging	Het
Olfr111	T	G	17: 37,530,579	S201A	probably benign	Het
Olfr632	A	G	7: 103,937,602	D74G	probably damaging	Het
Olfr883	T	C	9: 38,026,718	M304T	probably benign	Het
Parn	A	T	16: 13,665,971	N36K	probably benign	Het
Ppp6r2	A	G	15: 89,280,447	E618G	probably benign	Het
Prdm13	A	G	4: 21,679,557	L311P	unknown	Het
Prkaa2	T	C	4: 105,036,298	T485A	possibly damaging	Het
Prmt2	G	T	10: 76,217,413	T256K	probably benign	Het
Rspry1	T	C	8: 94,639,589	Y362H	probably damaging	Het
Slc16a14	A	T	1: 84,912,345	I413N	possibly damaging	Het
Slc8a1	T	C	17: 81,408,106	T821A	probably damaging	Het
Spock2	A	T	10: 60,126,955	K276N	probably damaging	Het
Synj1	A	T	16: 90,988,196	N257K	probably benign	Het
Taar7f	T	C	10: 24,049,913	L135P	possibly damaging	Het
Tmem132b	T	C	5: 125,787,554	F908S	probably damaging	Het
Tmem202	A	T	9: 59,519,217	V222D	probably benign	Het
Trim33	T	A	3: 103,311,454	C302*	probably null	Het
Tuba4a	G	A	1: 75,218,621	S1L		Het
Tyrp1	G	A	4: 80,850,684	E472K	probably benign	Het
V1ra8	A	G	6: 90,203,264	I150V	possibly damaging	Het
Vmn2r87	A	T	10: 130,472,311	M686K	possibly damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Heatr5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Heatr5a	APN	12	51888901	missense	probably damaging	0.99
IGL01397:Heatr5a	APN	12	51894369	missense	possibly damaging	0.89
IGL01481:Heatr5a	APN	12	51955425	missense	probably damaging	1.00
IGL01684:Heatr5a	APN	12	51955511	missense	probably benign	0.36
IGL01766:Heatr5a	APN	12	51889664	missense	probably benign	0.15
IGL01799:Heatr5a	APN	12	51897835	missense	probably benign	0.17
IGL02007:Heatr5a	APN	12	51916158	missense	probably damaging	1.00
IGL02093:Heatr5a	APN	12	51916075	missense	possibly damaging	0.68
IGL02205:Heatr5a	APN	12	51877337	missense	probably damaging	1.00
IGL02450:Heatr5a	APN	12	51945430	missense	probably benign	0.02
IGL02565:Heatr5a	APN	12	51951099	missense	possibly damaging	0.54
IGL02707:Heatr5a	APN	12	51921366	missense	probably benign	0.01
IGL02735:Heatr5a	APN	12	51915021	missense	probably damaging	0.99
IGL03160:Heatr5a	APN	12	51884496	splice site	probably benign
F5770:Heatr5a	UTSW	12	51881278	splice site	probably benign
R0034:Heatr5a	UTSW	12	51925172	missense	probably damaging	1.00
R0127:Heatr5a	UTSW	12	51925405	missense	probably benign
R0184:Heatr5a	UTSW	12	51909969	missense	probably benign	0.00
R0362:Heatr5a	UTSW	12	51888861	missense	probably damaging	1.00
R0567:Heatr5a	UTSW	12	51910089	missense	probably damaging	1.00
R0591:Heatr5a	UTSW	12	51910101	splice site	probably benign
R0736:Heatr5a	UTSW	12	51896561	critical splice donor site	probably null
R1532:Heatr5a	UTSW	12	51952518	missense	probably damaging	0.99
R1914:Heatr5a	UTSW	12	51905467	missense	probably damaging	1.00
R1956:Heatr5a	UTSW	12	51945419	critical splice donor site	probably null
R1978:Heatr5a	UTSW	12	51939658	missense	possibly damaging	0.77
R2044:Heatr5a	UTSW	12	51955403	missense	probably benign	0.19
R2263:Heatr5a	UTSW	12	51916150	missense	probably damaging	0.97
R2265:Heatr5a	UTSW	12	51893745	missense	possibly damaging	0.68
R2267:Heatr5a	UTSW	12	51893745	missense	possibly damaging	0.68
R2268:Heatr5a	UTSW	12	51893745	missense	possibly damaging	0.68
R2269:Heatr5a	UTSW	12	51893745	missense	possibly damaging	0.68
R2842:Heatr5a	UTSW	12	51955478	missense	probably null	1.00
R2842:Heatr5a	UTSW	12	51955477	splice site	probably null
R3033:Heatr5a	UTSW	12	51951038	nonsense	probably null
R4303:Heatr5a	UTSW	12	51956225	missense	probably benign	0.01
R4675:Heatr5a	UTSW	12	51877347	missense	probably benign	0.17
R4718:Heatr5a	UTSW	12	51916163	missense	possibly damaging	0.95
R4807:Heatr5a	UTSW	12	51877520	missense	probably damaging	1.00
R5114:Heatr5a	UTSW	12	51956237	nonsense	probably null
R5229:Heatr5a	UTSW	12	51947978	missense	probably benign	0.33
R5411:Heatr5a	UTSW	12	51888243	missense	probably damaging	1.00
R5548:Heatr5a	UTSW	12	51958951	nonsense	probably null
R5603:Heatr5a	UTSW	12	51877575	missense	probably benign	0.26
R5631:Heatr5a	UTSW	12	51955527	missense	probably benign	0.22
R5742:Heatr5a	UTSW	12	51955552	nonsense	probably null
R5969:Heatr5a	UTSW	12	51959040	missense	probably benign
R6020:Heatr5a	UTSW	12	51884327	missense	probably benign	0.01
R6234:Heatr5a	UTSW	12	51877454	missense	possibly damaging	0.69
R6352:Heatr5a	UTSW	12	51951166	missense	possibly damaging	0.88
R6798:Heatr5a	UTSW	12	51881265	missense	probably benign	0.01
R6815:Heatr5a	UTSW	12	51955508	missense	possibly damaging	0.89
R7059:Heatr5a	UTSW	12	51888234	missense	probably damaging	0.98
R7143:Heatr5a	UTSW	12	51961468	missense	probably benign	0.09
R7178:Heatr5a	UTSW	12	51925142	missense	probably damaging	0.99
R7291:Heatr5a	UTSW	12	51925339	missense	probably damaging	0.97
R7454:Heatr5a	UTSW	12	51961543	missense	probably benign	0.20
R7511:Heatr5a	UTSW	12	51879434	missense	possibly damaging	0.94
R7636:Heatr5a	UTSW	12	51888196	missense	probably damaging	1.00
R7636:Heatr5a	UTSW	12	51952558	missense	probably damaging	1.00
R7665:Heatr5a	UTSW	12	51961530	missense	probably damaging	1.00
R8088:Heatr5a	UTSW	12	51947996	missense	possibly damaging	0.85
R8205:Heatr5a	UTSW	12	51959009	missense	probably benign	0.05
R8212:Heatr5a	UTSW	12	51899229	missense	probably benign	0.00
R8213:Heatr5a	UTSW	12	51891443	missense	probably damaging	0.96
R8323:Heatr5a	UTSW	12	51955506	missense	probably benign	0.02
R8339:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R8395:Heatr5a	UTSW	12	51916178	missense
R8410:Heatr5a	UTSW	12	51938120	missense	probably benign	0.01
R8676:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R8834:Heatr5a	UTSW	12	51909956	critical splice donor site	probably null
R8916:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R9057:Heatr5a	UTSW	12	51939637	missense	probably damaging	1.00
R9248:Heatr5a	UTSW	12	51916243	missense
R9287:Heatr5a	UTSW	12	51920477	missense	probably damaging	0.97
R9332:Heatr5a	UTSW	12	51899285	missense	probably benign	0.33
R9454:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R9515:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R9654:Heatr5a	UTSW	12	51958995	missense	probably damaging	1.00
V7732:Heatr5a	UTSW	12	51905324	missense	possibly damaging	0.65
Z1088:Heatr5a	UTSW	12	51891404	missense	probably damaging	1.00
Z1088:Heatr5a	UTSW	12	51951076	missense	probably benign	0.29

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