Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Heatr5b'

519580

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

044591-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78753073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 2058 (H2058Y)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably benign
Transcript: ENSMUST00000097281
AA Change: H2058Y

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: H2058Y

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: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110F15Rik	T	A	9: 35,844,055	K3*	probably null	Het
A430078G23Rik	A	T	8: 3,388,753	Y370F	probably benign	Het
Abca1	T	C	4: 53,042,376	R1899G	probably damaging	Het
Abca6	C	T	11: 110,241,581	G296D	probably damaging	Het
Abcb5	A	T	12: 118,890,549		probably null	Het
Adam28	T	G	14: 68,633,208	T339P	probably damaging	Het
Adcy10	C	G	1: 165,518,374	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,252,914		probably null	Het
Alms1	T	A	6: 85,696,657	I3078N	probably damaging	Het
Amtn	A	T	5: 88,380,280	N71Y	probably damaging	Het
Arid4a	T	C	12: 71,075,088	S748P	probably benign	Het
Atp2b1	C	A	10: 99,016,980	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,949	D123G	probably benign	Het
Capn15	A	G	17: 25,965,436	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,739,412	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 128,832,610	V1174M	probably damaging	Het
Cd22	T	A	7: 30,876,153	I155F	probably damaging	Het
Ceacam3	T	C	7: 17,161,938	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,566,836	D370N	possibly damaging	Het
Diexf	G	T	1: 193,128,376	D106E	probably benign	Het
Dlg2	C	A	7: 92,444,508		probably null	Het
Dll4	A	T	2: 119,333,795		probably null	Het
Eif5b	T	C	1: 38,019,027	S137P	probably benign	Het
Epn2	A	T	11: 61,533,641	M250K	probably damaging	Het
Fat2	T	A	11: 55,270,457	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,556,814	S341F	probably benign	Het
Gm15922	T	A	7: 3,738,931	Y150F	probably benign	Het
Gm5141	A	T	13: 62,774,783	C191S	probably damaging	Het
Gm5150	C	T	3: 15,990,651	G137S	probably damaging	Het
Gm5346	T	A	8: 43,626,152	H345L	probably damaging	Het
Gpr75	C	T	11: 30,891,529	R145W	probably damaging	Het
Ina	G	A	19: 47,023,561	E473K	probably benign	Het
Irx6	T	C	8: 92,676,072	S22P	probably benign	Het
Itpr1	T	A	6: 108,417,972	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,226,016	S1383T	probably benign	Het
Lclat1	T	A	17: 73,161,833	S3T	probably damaging	Het
Llgl1	G	A	11: 60,709,660	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239	R708G	probably benign	Het
Mphosph8	T	C	14: 56,688,486	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,464,145	N254Y	probably damaging	Het
Myo7a	C	T	7: 98,073,167	V1184M	probably benign	Het
Myog	G	A	1: 134,290,488	D145N	probably benign	Het
Nat10	T	A	2: 103,739,886	I371F	possibly damaging	Het
Neb	A	T	2: 52,167,644	Y229*	probably null	Het
Nlrp6	T	A	7: 140,927,509	I896K	possibly damaging	Het
Olfr235	T	C	19: 12,268,706	S159P	probably damaging	Het
Olfr551	G	A	7: 102,588,671	A24V	probably benign	Het
Olfr740	A	T	14: 50,453,585	I178L	possibly damaging	Het
Pcdhgc5	A	C	18: 37,821,248	E525A	probably damaging	Het
Pkd2	C	A	5: 104,459,924	D96E	probably benign	Het
Prtg	A	G	9: 72,907,856	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,541,284	M981T	probably benign	Het
Rc3h2	C	A	2: 37,409,470	A183S	probably damaging	Het
Rorb	A	T	19: 18,960,492	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,141,189	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,495,205	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,918,947	I109F	probably damaging	Het
Spen	G	A	4: 141,475,509	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,482,513	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,711,663	W89*	probably null	Het
Tbxas1	T	A	6: 38,952,145		probably benign	Het
Tia1	T	A	6: 86,420,378	I111N	probably damaging	Het
Tlr9	T	A	9: 106,223,999	L163H	probably damaging	Het
Tnn	C	T	1: 160,114,719	V806M	probably damaging	Het
Traf5	G	A	1: 191,999,926	A318V	probably benign	Het
Ttc3	T	A	16: 94,418,623	M1K	probably null	Het
Vmn1r192	T	A	13: 22,187,830	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,748,404	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,683,583	N372Y	probably damaging	Het
Wbp2	A	T	11: 116,079,753	S229R	probably damaging	Het
Wdr18	C	T	10: 79,965,281	T176I	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
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
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
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'- CACTCATGCAAGCTGTCCAC -3'
(R):5'- CATGAGTTTGCACTGCAGAAC -3'

Sequencing Primer
(F):5'- AGAATGTACTGTATGAATGCTCTGTG -3'
(R):5'- TGCACTGCAGAACTTAATGC -3'

Posted On

2018-05-24