Mutagenetix > Incidental Mutation

Incidental Mutation 'R5153:Heatr5b'

395571

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

042735-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R5153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 78795107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1281 (R1281*)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097281]

AlphaFold

Q8C547

Predicted Effect

probably null
Transcript: ENSMUST00000097281
AA Change: R1281*

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: R1281*

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	46	491	4e-6	SMART
SCOP:d1qbkb_	846	1338	2e-16	SMART
low complexity region	1641	1650	N/A	INTRINSIC
low complexity region	2039	2057	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,837,247	C257S	unknown	Het
4930596D02Rik	C	A	14: 35,810,255	R121L	probably benign	Het
5330417C22Rik	A	T	3: 108,472,747	Y349N	possibly damaging	Het
8030411F24Rik	A	G	2: 148,783,440	Q98R	probably benign	Het
9430007A20Rik	T	A	4: 144,522,267	M68K	probably benign	Het
Acin1	A	G	14: 54,645,613	V194A	probably benign	Het
Acsm1	T	C	7: 119,640,727	I298T	possibly damaging	Het
Aoc1	A	G	6: 48,908,747	N729D	probably benign	Het
Apobr	C	T	7: 126,587,732	T20I	possibly damaging	Het
Arsb	A	G	13: 93,940,598	E491G	probably benign	Het
AW209491	C	G	13: 14,637,179	Q206E	probably benign	Het
Camsap1	A	T	2: 25,933,618	N1473K	probably damaging	Het
Casp8	A	G	1: 58,844,845	Q457R	probably benign	Het
Ccdc154	G	A	17: 25,168,341	A350T	probably damaging	Het
Cecr2	A	G	6: 120,734,560	E183G	probably benign	Het
Cep295	A	T	9: 15,357,629	S39T	probably benign	Het
Cep350	A	T	1: 155,935,946	I416K	probably damaging	Het
Cidea	C	T	18: 67,367,420	T184M	probably damaging	Het
Cnot10	G	A	9: 114,613,735	A468V	probably damaging	Het
Defb22	A	T	2: 152,485,802	N154K	unknown	Het
Dnah17	A	T	11: 118,082,974	C1915*	probably null	Het
Dnah2	T	C	11: 69,520,933	T288A	possibly damaging	Het
Dopey2	T	A	16: 93,774,003	M1512K	probably damaging	Het
Dsp	T	G	13: 38,182,306	I572S	probably damaging	Het
Eepd1	A	G	9: 25,586,753	H378R	probably benign	Het
Emilin2	A	G	17: 71,273,502	M743T	possibly damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
F2rl2	A	G	13: 95,697,112	T17A	probably benign	Het
Fbxl8	T	G	8: 105,267,107	C32G	probably damaging	Het
Fbxw17	A	G	13: 50,419,861	T38A	probably damaging	Het
Flii	A	T	11: 60,716,686	L882Q	possibly damaging	Het
Focad	T	G	4: 88,359,884	S1197A	unknown	Het
Gm6970	A	G	19: 47,170,917	V73A	probably damaging	Het
Khdc3	A	G	9: 73,103,438	Q190R	probably benign	Het
Krt9	T	A	11: 100,191,242	D244V	probably damaging	Het
Ldhd	T	C	8: 111,627,092	E463G	probably benign	Het
Lig4	A	T	8: 9,973,003	V259E	possibly damaging	Het
Luc7l3	A	T	11: 94,295,980		probably benign	Het
Man1a2	T	C	3: 100,656,263	E22G	probably damaging	Het
Mmp23	T	G	4: 155,651,340	D258A	probably damaging	Het
Msantd2	C	T	9: 37,523,213	R250*	probably null	Het
Mynn	T	C	3: 30,611,589	S457P	probably benign	Het
Nectin1	C	T	9: 43,803,498	H50Y	probably damaging	Het
Olfr1256	G	A	2: 89,835,234	T237I	possibly damaging	Het
Olfr516	T	C	7: 108,845,699	I104V	probably benign	Het
Olfr709-ps1	C	T	7: 106,926,569	V297M	possibly damaging	Het
Olfr804	A	G	10: 129,705,157	N93S	probably benign	Het
Pfkfb2	G	A	1: 130,701,790	T303M	probably damaging	Het
Pkhd1l1	A	G	15: 44,505,309	D841G	probably benign	Het
Plxna4	A	T	6: 32,224,159		probably null	Het
Podnl1	C	T	8: 84,130,643	H294Y	probably benign	Het
Ppig	T	A	2: 69,749,650	D509E	unknown	Het
Ppp1r16a	T	A	15: 76,694,396	Y433*	probably null	Het
Prdm1	A	C	10: 44,450,225	V134G	possibly damaging	Het
Prx	T	C	7: 27,518,476	S940P	probably damaging	Het
Ptprd	C	T	4: 76,012,102	V731I	probably damaging	Het
Qk	A	G	17: 10,238,891		probably null	Het
Rassf6	T	C	5: 90,606,840	K206R	possibly damaging	Het
Rdh16f2	G	A	10: 127,876,255	E194K	possibly damaging	Het
Rims1	C	A	1: 22,483,247	G457*	probably null	Het
Ripk1	T	G	13: 34,013,296	I123R	probably damaging	Het
Rnf111	A	T	9: 70,476,140	S170R	probably benign	Het
Shc3	A	T	13: 51,461,377	F181L	probably damaging	Het
Siglec1	A	C	2: 131,085,577	V103G	probably damaging	Het
Slc26a11	G	T	11: 119,377,259	A488S	possibly damaging	Het
Smoc2	A	T	17: 14,336,579	T97S	probably damaging	Het
Son	T	C	16: 91,655,022	I219T	possibly damaging	Het
Sptbn1	A	T	11: 30,121,510	I1474N	possibly damaging	Het
Syt16	A	T	12: 74,222,768	D127V	possibly damaging	Het
Tet1	G	T	10: 62,878,578	N479K	possibly damaging	Het
Thsd7a	G	A	6: 12,338,655	A1192V	probably benign	Het
Tmed3	G	A	9: 89,699,772	R213*	probably null	Het
Traj57	A	G	14: 54,158,559		probably benign	Het
Trpv1	G	T	11: 73,238,516	R86S	probably benign	Het
Usp48	T	A	4: 137,616,362	F434L	possibly damaging	Het
Vmn2r59	A	C	7: 42,042,410		probably null	Het
Vmn2r71	T	A	7: 85,619,222	I211N	possibly damaging	Het
Vps13b	T	A	15: 35,422,453	D186E	probably damaging	Het
Vps33a	A	G	5: 123,558,628	S321P	probably damaging	Het
Wdr12	A	T	1: 60,094,511	D19E	probably benign	Het
Zc3h12c	A	G	9: 52,126,647	F278L	probably damaging	Het
Zpld1	T	C	16: 55,246,644	T183A	probably damaging	Het
Zswim2	G	T	2: 83,939,666	T68K	possibly damaging	Het

Other mutations in Heatr5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Heatr5b	APN	17	78803434	missense	probably damaging	1.00
IGL00418:Heatr5b	APN	17	78753141	missense	probably damaging	1.00
IGL00786:Heatr5b	APN	17	78824634	missense	possibly damaging	0.95
IGL00840:Heatr5b	APN	17	78765437	missense	probably damaging	1.00
IGL01362:Heatr5b	APN	17	78816338	splice site	probably benign
IGL01419:Heatr5b	APN	17	78796510	missense	probably benign	0.19
IGL01447:Heatr5b	APN	17	78829597	missense	probably benign	0.00
IGL01591:Heatr5b	APN	17	78808472	missense	probably benign	0.01
IGL01743:Heatr5b	APN	17	78824640	nonsense	probably null
IGL01860:Heatr5b	APN	17	78808480	missense	probably damaging	0.98
IGL01862:Heatr5b	APN	17	78796485	missense	possibly damaging	0.96
IGL01984:Heatr5b	APN	17	78796497	missense	possibly damaging	0.63
IGL02045:Heatr5b	APN	17	78808426	missense	probably damaging	1.00
IGL02097:Heatr5b	APN	17	78817514	missense	probably damaging	1.00
IGL02168:Heatr5b	APN	17	78831591	unclassified	probably benign
IGL02399:Heatr5b	APN	17	78827967	missense	probably damaging	0.99
IGL02540:Heatr5b	APN	17	78773572	missense	probably damaging	1.00
IGL02719:Heatr5b	APN	17	78815540	missense	probably damaging	1.00
IGL02824:Heatr5b	APN	17	78773680	missense	probably damaging	1.00
IGL02965:Heatr5b	APN	17	78753073	missense	probably benign	0.37
IGL03032:Heatr5b	APN	17	78760499	missense	probably benign	0.45
IGL03243:Heatr5b	APN	17	78763080	splice site	probably benign
IGL03259:Heatr5b	APN	17	78791556	missense	probably damaging	1.00
IGL03349:Heatr5b	APN	17	78755320	missense	probably benign	0.01
R5470_heatr5b_501	UTSW	17	78821579	splice site	probably null
R0124:Heatr5b	UTSW	17	78826217	splice site	probably benign
R0285:Heatr5b	UTSW	17	78808453	missense	probably benign	0.05
R0335:Heatr5b	UTSW	17	78827946	missense	probably benign	0.15
R0412:Heatr5b	UTSW	17	78820854	missense	probably benign	0.04
R0601:Heatr5b	UTSW	17	78768545	missense	probably benign
R0725:Heatr5b	UTSW	17	78796396	missense	probably benign	0.03
R1178:Heatr5b	UTSW	17	78813269	missense	probably damaging	1.00
R1444:Heatr5b	UTSW	17	78753193	missense	probably benign	0.17
R1444:Heatr5b	UTSW	17	78755427	splice site	probably benign
R1453:Heatr5b	UTSW	17	78817563	missense	probably damaging	1.00
R1469:Heatr5b	UTSW	17	78808384	missense	probably damaging	1.00
R1469:Heatr5b	UTSW	17	78808384	missense	probably damaging	1.00
R1506:Heatr5b	UTSW	17	78753147	missense	probably damaging	1.00
R1819:Heatr5b	UTSW	17	78791511	missense	probably damaging	0.98
R1835:Heatr5b	UTSW	17	78773563	missense	probably damaging	1.00
R1837:Heatr5b	UTSW	17	78820751	missense	possibly damaging	0.54
R1934:Heatr5b	UTSW	17	78795918	missense	possibly damaging	0.93
R2014:Heatr5b	UTSW	17	78814184	missense	probably damaging	1.00
R2037:Heatr5b	UTSW	17	78829505	nonsense	probably null
R2154:Heatr5b	UTSW	17	78831444	missense	probably benign	0.00
R2190:Heatr5b	UTSW	17	78801756	missense	probably damaging	1.00
R2191:Heatr5b	UTSW	17	78773677	missense	probably damaging	1.00
R2413:Heatr5b	UTSW	17	78756861	critical splice donor site	probably null
R3424:Heatr5b	UTSW	17	78768404	missense	possibly damaging	0.58
R3607:Heatr5b	UTSW	17	78834217	missense	probably damaging	1.00
R3759:Heatr5b	UTSW	17	78824540	missense	possibly damaging	0.94
R3761:Heatr5b	UTSW	17	78829642	missense	probably damaging	1.00
R4127:Heatr5b	UTSW	17	78753174	missense	possibly damaging	0.48
R4242:Heatr5b	UTSW	17	78756922	missense	probably benign	0.00
R4345:Heatr5b	UTSW	17	78760511	missense	possibly damaging	0.94
R4534:Heatr5b	UTSW	17	78810596	missense	possibly damaging	0.91
R4623:Heatr5b	UTSW	17	78795119	missense	possibly damaging	0.52
R4654:Heatr5b	UTSW	17	78820701	missense	possibly damaging	0.95
R4939:Heatr5b	UTSW	17	78762260	missense	probably benign	0.18
R4960:Heatr5b	UTSW	17	78831584	missense	probably benign	0.01
R5037:Heatr5b	UTSW	17	78824510	missense	probably benign	0.00
R5051:Heatr5b	UTSW	17	78795274	missense	probably damaging	1.00
R5328:Heatr5b	UTSW	17	78826362	missense	possibly damaging	0.94
R5346:Heatr5b	UTSW	17	78827986	missense	probably benign	0.44
R5426:Heatr5b	UTSW	17	78773713	missense	probably damaging	1.00
R5470:Heatr5b	UTSW	17	78821579	splice site	probably null
R5472:Heatr5b	UTSW	17	78801660	missense	probably damaging	1.00
R5553:Heatr5b	UTSW	17	78753351	splice site	probably null
R5706:Heatr5b	UTSW	17	78766875	splice site	probably null
R5804:Heatr5b	UTSW	17	78831522	missense	probably damaging	0.97
R5978:Heatr5b	UTSW	17	78806036	missense	probably damaging	0.99
R6122:Heatr5b	UTSW	17	78813173	missense	possibly damaging	0.96
R6153:Heatr5b	UTSW	17	78831441	missense	possibly damaging	0.56
R6220:Heatr5b	UTSW	17	78773677	missense	probably damaging	1.00
R6221:Heatr5b	UTSW	17	78766954	missense	probably benign	0.05
R6255:Heatr5b	UTSW	17	78803434	missense	probably damaging	1.00
R6291:Heatr5b	UTSW	17	78762097	missense	probably benign	0.08
R6455:Heatr5b	UTSW	17	78753073	missense	probably benign	0.37
R6524:Heatr5b	UTSW	17	78814106	missense	possibly damaging	0.94
R6575:Heatr5b	UTSW	17	78762989	missense	probably damaging	1.00
R6899:Heatr5b	UTSW	17	78803509	missense	probably benign	0.03
R7084:Heatr5b	UTSW	17	78810563	missense	possibly damaging	0.68
R7138:Heatr5b	UTSW	17	78827988	missense	probably damaging	1.00
R7148:Heatr5b	UTSW	17	78831434	missense	probably damaging	0.99
R7382:Heatr5b	UTSW	17	78803507	missense	possibly damaging	0.64
R7420:Heatr5b	UTSW	17	78808480	missense	probably damaging	1.00
R7436:Heatr5b	UTSW	17	78768533	missense	probably benign
R7519:Heatr5b	UTSW	17	78755217	missense	probably benign
R7606:Heatr5b	UTSW	17	78763026	missense	probably benign
R7673:Heatr5b	UTSW	17	78795983	missense	probably damaging	0.97
R7782:Heatr5b	UTSW	17	78795941	missense	probably damaging	0.99
R7790:Heatr5b	UTSW	17	78818823	missense	probably damaging	0.99
R7922:Heatr5b	UTSW	17	78760559	missense	probably benign	0.01
R8184:Heatr5b	UTSW	17	78814233	missense	probably benign	0.03
R8222:Heatr5b	UTSW	17	78801701	missense	possibly damaging	0.95
R8276:Heatr5b	UTSW	17	78791539	nonsense	probably null
R8324:Heatr5b	UTSW	17	78755364	missense	possibly damaging	0.85
R8430:Heatr5b	UTSW	17	78829624	missense	probably damaging	0.97
R8432:Heatr5b	UTSW	17	78803501	missense	probably damaging	0.99
R8672:Heatr5b	UTSW	17	78762203	missense	probably damaging	1.00
R8781:Heatr5b	UTSW	17	78795309	missense	probably benign	0.19
R8794:Heatr5b	UTSW	17	78815586	missense	probably benign	0.00
R8808:Heatr5b	UTSW	17	78765405	missense	possibly damaging	0.92
R8850:Heatr5b	UTSW	17	78801759	missense	probably benign	0.02
R8893:Heatr5b	UTSW	17	78761995	splice site	probably benign
R9010:Heatr5b	UTSW	17	78773710	missense	probably damaging	1.00
R9041:Heatr5b	UTSW	17	78796432	missense	probably benign	0.12
R9150:Heatr5b	UTSW	17	78796019	missense	probably benign
R9253:Heatr5b	UTSW	17	78827994	missense	probably benign	0.13
R9318:Heatr5b	UTSW	17	78765402	missense	probably benign	0.07
R9448:Heatr5b	UTSW	17	78760586	missense	probably benign	0.26
R9489:Heatr5b	UTSW	17	78753250	nonsense	probably null
R9649:Heatr5b	UTSW	17	78834095	critical splice donor site	probably null
X0022:Heatr5b	UTSW	17	78760545	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- ATCCTGAGGAAATGTAAGCTGC -3'
(R):5'- GACGCCATGTTCACGACACTAG -3'

Sequencing Primer
(F):5'- GGAAATGTAAGCTGCAAACTTTG -3'
(R):5'- CATGTTCACGACACTAGGCGAG -3'

Posted On

2016-06-21