Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Heatr5b'

503980

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78773677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1382 (L1382P)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably damaging
Transcript: ENSMUST00000097281
AA Change: L1382P

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

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: L1382P

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

0.6670

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	T	C	19: 45,846,115	E618G	possibly damaging	Het
Abhd16b	A	G	2: 181,493,785	D160G	probably damaging	Het
Acap1	A	G	11: 69,889,679	F15S	probably damaging	Het
Adam30	A	T	3: 98,161,309	S153C	probably damaging	Het
Afp	A	T	5: 90,504,410	D420V	possibly damaging	Het
Ak9	T	A	10: 41,370,099	H729Q	unknown	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bcr	A	G	10: 75,062,292	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ctns	T	C	11: 73,193,128	T23A	probably benign	Het
Ddx54	T	A	5: 120,620,689	N332K	probably benign	Het
Dysf	T	A	6: 84,149,745	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,134,500	M172L	probably benign	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Filip1l	T	A	16: 57,569,989	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,948	T716K	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm10645	A	G	8: 83,165,757		probably benign	Het
Gm10735	T	C	13: 113,041,496		probably benign	Het
Gm4847	A	T	1: 166,634,972	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,690,790	L388P	probably damaging	Het
Herc1	A	G	9: 66,433,788	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,729,546	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,262,718	N96I	probably damaging	Het
Isl1	T	C	13: 116,303,267	T182A	probably benign	Het
Jph4	T	C	14: 55,110,085	E421G	probably benign	Het
Lrrc45	T	C	11: 120,719,527	I488T	probably benign	Het
Mroh8	A	G	2: 157,233,163	I471T	probably benign	Het
Ms4a2	A	T	19: 11,617,563	D96E	probably damaging	Het
Mst1r	T	A	9: 107,907,348	N68K	probably benign	Het
Myo18b	A	G	5: 112,757,507	M2075T	possibly damaging	Het
Neb	T	C	2: 52,270,972	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,153,971		probably null	Het
Nlrp1a	C	A	11: 71,142,338	S10I	probably benign	Het
Npas2	A	T	1: 39,336,061	T487S	probably benign	Het
Nrxn1	G	C	17: 91,088,476	T84R	probably benign	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,745,251	C921R	probably damaging	Het
Pcdha9	A	G	18: 36,998,478	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,603,203	R315*	probably null	Het
Rasgrp1	C	T	2: 117,284,929	W726*	probably null	Het
Rassf8	G	A	6: 145,817,133	R402H	probably damaging	Het
Rev3l	T	A	10: 39,822,779	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,149,551	V349G	probably damaging	Het
Rps18	A	T	17: 33,955,136	V15E	probably damaging	Het
Rptor	A	T	11: 119,897,442	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 94,658,750	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,729	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,114,329	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,439,021	M295K	possibly damaging	Het
Sv2c	T	C	13: 95,976,626	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,875,201	W252*	probably null	Het
Tes	T	A	6: 17,086,196	C29*	probably null	Het
Thsd4	A	G	9: 59,982,747	W856R	probably damaging	Het
Treml4	A	T	17: 48,264,848	D93V	possibly damaging	Het
Trim66	T	C	7: 109,483,093	T218A	probably damaging	Het
Tssk5	T	C	15: 76,373,773	D128G	probably damaging	Het
Ubr3	T	A	2: 70,020,475	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,053,568	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,479,938	D86E	probably benign	Het
Zfp184	T	G	13: 21,960,207	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,999,404	F341L	probably benign	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
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'- GCTTTGCCAAGGACTGATTG -3'
(R):5'- GGAAACTCAGTGCTGCTCTG -3'

Sequencing Primer
(F):5'- GTTGTAACACACAGAGGGTTCTCC -3'
(R):5'- AAACTCAGTGCTGCTCTGTTTTG -3'

Posted On

2018-02-27