Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Heatr5b'

279644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78817514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 603 (T603I)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably damaging
Transcript: ENSMUST00000097281
AA Change: T603I

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

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: T603I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	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
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
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

Posted On

2015-04-16