Mutagenetix > Incidental Mutations

Incidental Mutation 'R6575:Heatr5b'

523420

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.394) question?

Stock #

R6575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78762989 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1665 (V1665E)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097281
AA Change: V1665E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: V1665E

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,182,817	Y1177C	probably damaging	Het
4933402N22Rik	A	T	5: 11,920,645	K62*	probably null	Het
Acnat1	A	G	4: 49,450,785	Y109H	possibly damaging	Het
Adgrf3	T	A	5: 30,196,524	K835N	possibly damaging	Het
Afg1l	T	C	10: 42,318,716	D360G	probably damaging	Het
Ap3s1	C	T	18: 46,754,381	T27M	probably benign	Het
Atp8b4	A	G	2: 126,414,364	L225P	probably damaging	Het
Bicra	G	A	7: 15,979,131	T997I	probably benign	Het
Bod1l	T	C	5: 41,838,068	R112G	probably damaging	Het
Cabin1	T	C	10: 75,725,701	T989A	possibly damaging	Het
Cog1	C	A	11: 113,656,061	Q494K	probably benign	Het
Cyb5rl	T	C	4: 107,085,353	Y160H	probably benign	Het
Dnajb8	A	G	6: 88,223,075	N198D	probably damaging	Het
Eif3l	C	A	15: 79,086,578	Q351K	possibly damaging	Het
Esr1	T	C	10: 4,966,301		probably benign	Het
Fam3c	G	T	6: 22,329,608	A40D	probably damaging	Het
Fcrla	A	G	1: 170,922,228	S87P	probably damaging	Het
Glra1	A	G	11: 55,520,996	Y246H	probably damaging	Het
Gm2056	T	C	12: 88,027,347	I115T	probably damaging	Het
Gm45871	T	A	18: 90,591,720	C361S	probably damaging	Het
Greb1l	A	G	18: 10,547,347	N1522D	possibly damaging	Het
Hcn4	T	C	9: 58,824,152	M214T	unknown	Het
Hemgn	C	A	4: 46,395,990	M415I	possibly damaging	Het
Hibadh	G	A	6: 52,547,028	T295I	probably damaging	Het
Iars	T	C	13: 49,725,269	L947P	probably damaging	Het
Icam2	G	A	11: 106,378,759	T178I	probably damaging	Het
Lbr	A	G	1: 181,836,198	S86P	probably damaging	Het
Lipe	G	A	7: 25,383,324	T801I	probably benign	Het
Lrp6	T	C	6: 134,541,971	T44A	possibly damaging	Het
Malrd1	A	G	2: 15,842,628	H1193R	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Myh10	A	G	11: 68,808,850	I1671V	probably benign	Het
Olfr15	A	G	16: 3,839,030	D19G	probably benign	Het
Osbpl9	T	C	4: 109,072,932	D334G	possibly damaging	Het
Pdcd11	A	G	19: 47,109,678	D801G	probably damaging	Het
Pfdn4	C	A	2: 170,516,636	D16E	probably benign	Het
Pmp22	C	T	11: 63,158,273	A114V	probably damaging	Het
Rrp9	C	T	9: 106,483,579	T253I	probably damaging	Het
Tcrg-V4	T	A	13: 19,185,080	C34S	probably benign	Het
Tnrc6a	A	G	7: 123,169,910	T308A	probably damaging	Het
Trhr	A	G	15: 44,229,206	M280V	possibly damaging	Het
Trp53bp1	G	A	2: 121,228,603	H926Y	probably damaging	Het
Trpv5	A	T	6: 41,675,969	I90K	probably benign	Het
Ttn	T	C	2: 76,888,915		probably benign	Het
Vav1	A	C	17: 57,305,280	R513S	probably damaging	Het
Vmn2r100	A	T	17: 19,521,409	T128S	probably benign	Het
Zfp687	T	C	3: 95,008,389	Y1024C	probably damaging	Het
Zfp938	C	A	10: 82,225,326	G487*	probably null	Het
Znrf2	A	G	6: 54,878,445	Y73C	probably 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
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
R5153:Heatr5b	UTSW	17	78795107	nonsense	probably null
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
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
X0022:Heatr5b	UTSW	17	78760545	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGACACCTTTGAATGGACGAAG -3'
(R):5'- AAATCTTATAGGACAAAGTGTGACC -3'

Sequencing Primer
(F):5'- ACAGGTCCTCTATCTGGTGATGAAC -3'
(R):5'- GTACCCATCTGTCATTTGAAA -3'

Posted On

2018-06-22