Mutagenetix > Incidental Mutation

Incidental Mutation 'R5470:Heatr5b'

433501

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

043031-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R5470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 78821579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably null
Transcript: ENSMUST00000097281

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,168,941	I813F	probably damaging	Het
Aqr	G	A	2: 114,157,575	L169F	probably damaging	Het
Atp6v1d	G	A	12: 78,845,284	R182C	probably benign	Het
Bcl2l13	G	T	6: 120,862,872	A44S	probably benign	Het
Brip1	T	C	11: 86,148,542	K389E	possibly damaging	Het
C530025M09Rik	G	A	2: 149,831,125		probably benign	Het
Ccdc7b	T	A	8: 129,072,600	S53T	possibly damaging	Het
Chd8	A	G	14: 52,212,609	F154L	probably damaging	Het
Cop1	A	T	1: 159,266,860		probably benign	Het
Cyp2c39	A	G	19: 39,513,530	K121R	possibly damaging	Het
Cyp3a57	A	G	5: 145,372,619	M256V	probably benign	Het
Deup1	T	C	9: 15,582,620		probably null	Het
Dnah10	A	G	5: 124,753,168	N709D	probably benign	Het
Dthd1	A	G	5: 62,818,766	Y261C	probably damaging	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
En2	C	T	5: 28,166,924	T133M	probably benign	Het
Endou	A	G	15: 97,718,955	F229S	probably damaging	Het
Etl4	A	T	2: 20,529,980	H79L	probably damaging	Het
Fah	C	T	7: 84,593,185		probably null	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fignl1	T	A	11: 11,802,640	E138D	probably benign	Het
Fndc3a	A	G	14: 72,574,568	L311P	possibly damaging	Het
Gdf9	T	A	11: 53,436,754	V179E	probably benign	Het
Gm14129	G	T	2: 148,927,817		noncoding transcript	Het
Gorab	A	G	1: 163,392,509	I188T	probably damaging	Het
Gpr152	G	A	19: 4,143,129	C223Y	probably damaging	Het
Hsd17b3	G	T	13: 64,073,899	T104N	probably damaging	Het
Il6ra	C	T	3: 89,885,995	V283M	probably benign	Het
Klk1b16	A	T	7: 44,137,331	I5F	probably damaging	Het
Krt74	G	A	15: 101,754,465		noncoding transcript	Het
Lrch3	T	A	16: 32,998,590	N650K	probably damaging	Het
Ly96	A	T	1: 16,709,486	E126D	probably benign	Het
Mgarp	C	A	3: 51,391,285	R66L	possibly damaging	Het
Naalad2	T	A	9: 18,330,851	T586S	probably damaging	Het
Ndufaf3	T	C	9: 108,566,444		probably benign	Het
Neb	A	G	2: 52,249,438	M3055T	possibly damaging	Het
Neo1	G	T	9: 58,931,067	A478D	probably damaging	Het
Nmrk1	A	T	19: 18,639,884		probably null	Het
Nsl1	T	C	1: 191,080,540	M184T	probably benign	Het
Nup133	T	C	8: 123,930,966	N410S	probably benign	Het
Olfr23	T	C	11: 73,940,870	I208T	probably benign	Het
Olfr399	A	G	11: 74,053,907	I284T	possibly damaging	Het
Olfr610	T	G	7: 103,506,509	I146L	probably benign	Het
Opalin	A	G	19: 41,066,531	S75P	probably benign	Het
Palb2	C	A	7: 122,114,351	C903F	probably damaging	Het
Pcm1	T	A	8: 41,287,683	W989R	probably damaging	Het
Pfkfb4	T	A	9: 109,027,593	I389N	probably damaging	Het
Pitrm1	T	C	13: 6,553,270	C119R	probably benign	Het
Plekha1	T	C	7: 130,908,376	V45A	probably damaging	Het
Pold2	G	A	11: 5,873,048	P376S	probably damaging	Het
Rcan2	A	G	17: 43,836,283	D4G	probably benign	Het
Slc12a1	A	T	2: 125,170,714	T299S	probably damaging	Het
Slc22a29	A	T	19: 8,161,516	H527Q	probably benign	Het
Slc22a8	G	A	19: 8,607,870	R261H	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slco4a1	T	C	2: 180,474,114	F681S	probably benign	Het
Sorcs2	A	T	5: 36,031,183	H860Q	probably benign	Het
Strn	A	T	17: 78,656,945	H530Q	probably benign	Het
Tex14	A	G	11: 87,551,604	R179G	probably damaging	Het
Tjp3	T	C	10: 81,279,547	D350G	probably benign	Het
Tnrc6b	G	T	15: 80,916,711	R1406L	possibly damaging	Het
Tnxb	A	G	17: 34,716,973	D2666G	probably null	Het
Ttn	A	T	2: 76,729,864	Y27652N	probably benign	Het
Utp20	T	A	10: 88,817,896	E287D	probably benign	Het
Vmn1r45	T	C	6: 89,933,716	I91V	probably benign	Het
Wdr72	A	T	9: 74,139,699	K76*	probably null	Het
Zfp689	C	T	7: 127,444,253	A402T	probably damaging	Het
Zfpm1	A	G	8: 122,333,793	E207G	probably damaging	Het
Zhx2	G	T	15: 57,823,074	R613L	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
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
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
X0022:Heatr5b	UTSW	17	78760545	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- GTACCTATGGACGCTTCCTG -3'
(R):5'- TCTGTTCAACAGCGTTTTAATGTCC -3'

Sequencing Primer
(F):5'- CCTATGGACGCTTCCTGAATAAGAG -3'
(R):5'- CGAAGCTTCATGACCTGAGTTCAG -3'

Posted On

2016-10-06