Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Heatr5b'

553979

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

045225-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78831434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 93 (D93G)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097281] [ENSMUST00000170759]

AlphaFold

Q8C547

Predicted Effect

probably damaging
Transcript: ENSMUST00000097281
AA Change: D93G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: D93G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170759

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668

Domain	Start	End	E-Value	Type
G_patch	71	117	5.8e-14	SMART
DUF4187	195	263	1.51e-25	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,388,312	Y14F	probably damaging	Het
2410131K14Rik	A	G	5: 118,255,694	N46D	probably benign	Het
4930563D23Rik	T	C	16: 92,320,987	K138E	probably benign	Het
Acly	A	G	11: 100,483,782	V805A	possibly damaging	Het
AF366264	T	A	8: 13,837,996	I32L	probably benign	Het
Apcdd1	T	C	18: 62,951,845	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,465,930	F127I	probably benign	Het
Ccdc129	T	C	6: 55,897,686	I207T	probably damaging	Het
Ccdc138	T	C	10: 58,538,280	L374P	probably damaging	Het
Ces2b	A	G	8: 104,838,296	Y504C	probably damaging	Het
Ces5a	C	T	8: 93,502,322	G427S	probably damaging	Het
Chd1l	C	T	3: 97,591,316	V256M	probably damaging	Het
Col24a1	C	T	3: 145,315,299	T477M	probably damaging	Het
Dmbt1	T	A	7: 131,066,734	C573*	probably null	Het
Emcn	A	T	3: 137,417,094	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,071,144	M1R	probably null	Het
Fam83h	C	A	15: 76,005,167	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,755,675	K664E	probably benign	Het
Fzd9	A	G	5: 135,249,690	V447A	probably benign	Het
Gm21964	G	T	8: 110,109,416	R119I	probably benign	Het
Hmcn1	T	C	1: 150,686,854	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,902	L258Q	probably damaging	Het
Kmo	T	A	1: 175,651,602	C235S	probably damaging	Het
Lamc2	G	A	1: 153,185,984	P2S	probably benign	Het
Lman2	G	A	13: 55,352,949	P146S	probably benign	Het
Mars2	T	C	1: 55,237,514	I92T	probably damaging	Het
Msh3	A	G	13: 92,354,822	F27L	probably benign	Het
Myom2	T	C	8: 15,084,577	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,295,107	*214R	probably null	Het
Nsd2	T	C	5: 33,885,511	F1040L	possibly damaging	Het
Olfr374	T	A	8: 72,110,157	I197N	possibly damaging	Het
Osm	T	A	11: 4,239,936	I240N	probably benign	Het
Pard3b	T	A	1: 62,440,032	D884E	probably benign	Het
Pex5	T	G	6: 124,405,272	D150A	probably benign	Het
Pfkfb4	T	C	9: 109,027,608	V394A	probably damaging	Het
Pjvk	A	G	2: 76,658,487	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Prpf4b	T	G	13: 34,894,472	N688K	probably benign	Het
R3hcc1	T	C	14: 69,705,552	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,719,119	G207*	probably null	Het
Rhobtb3	G	T	13: 75,910,887	T264K	probably benign	Het
Rpl27	A	G	11: 101,442,406		probably benign	Het
Rxfp3	C	T	15: 11,036,777	V170I	possibly damaging	Het
Samd4	T	A	14: 47,016,683	S201R	probably benign	Het
Sell	A	G	1: 164,065,607	I131V	possibly damaging	Het
Sirpb1c	A	T	3: 15,833,059	Y205*	probably null	Het
Smc3	A	T	19: 53,641,895	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,479,355	V185L	probably benign	Het
Spata4	A	C	8: 54,602,550	I159L	probably benign	Het
Tekt2	A	G	4: 126,322,381	I373T	probably benign	Het
Tomm20l	T	C	12: 71,117,539	V65A	probably benign	Het
Trabd2b	A	G	4: 114,409,350	D187G	probably damaging	Het
Trrap	A	G	5: 144,821,803	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,008	C440*	probably null	Het
Ube3b	A	C	5: 114,406,252	N570T	probably damaging	Het
Uevld	A	G	7: 46,950,976	I70T	probably damaging	Het
Usp10	C	T	8: 119,936,550	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,713,022	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,765,216	V601A	probably benign	Het
Wdr81	G	C	11: 75,446,002	N401K		Het
Ythdc2	G	T	18: 44,833,122	V142F	probably benign	Het
Zfp346	T	C	13: 55,105,450	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,542,239	V301M	possibly damaging	Het
Zim1	T	C	7: 6,678,221	K148E	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
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
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'- TATAGTTCAGGTTCCACCACATG -3'
(R):5'- AGACTGGATCATTTCTTACTGAGG -3'

Sequencing Primer
(F):5'- CACATGGGTGGGGTCTTTATGATATG -3'
(R):5'- TGTGAGTTACGCTTAATGAATACAG -3'

Posted On

2019-05-15