Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Heatr5b'

26233

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R0335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78827946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 252 (P252L)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably benign
Transcript: ENSMUST00000097281
AA Change: P252L

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: P252L

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

0.1080

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830406C13Rik	A	G	14: 12,301,266	E124G	possibly damaging	Het
4932438A13Rik	T	C	3: 36,969,152	V2210A	probably damaging	Het
Adamts12	G	T	15: 11,311,058	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,236,828	T460A	probably benign	Het
Amer3	A	C	1: 34,579,300		probably benign	Het
Arhgap22	C	T	14: 33,359,108		probably benign	Het
Arhgap32	T	G	9: 32,259,760	S1279A	probably benign	Het
Bcas1	G	A	2: 170,418,681	T26M	probably damaging	Het
Begain	A	T	12: 109,038,934	F256I	probably damaging	Het
Cabin1	A	T	10: 75,657,049	I1804N	probably damaging	Het
Cad	G	A	5: 31,073,985		probably benign	Het
Carmil1	G	A	13: 24,073,983	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,492,977	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,549		probably null	Het
Clip2	T	A	5: 134,535,215		probably benign	Het
Cmip	T	C	8: 117,445,366	I480T	probably damaging	Het
Cnot1	A	T	8: 95,772,000	I203K	probably benign	Het
Col18a1	G	A	10: 77,059,363	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956		probably benign	Het
Crybg3	A	T	16: 59,544,140	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 24,887,877	I935F	probably damaging	Het
Dapl1	T	A	2: 59,496,594	D61E	possibly damaging	Het
Def6	A	G	17: 28,228,069	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,069,399		probably benign	Het
Dvl2	G	A	11: 70,001,035		probably benign	Het
Ecd	A	C	14: 20,320,734	V639G	probably benign	Het
Epg5	C	T	18: 77,986,472	T1350M	probably benign	Het
Erbb4	C	A	1: 68,259,259	M657I	probably benign	Het
Evi5	T	C	5: 107,812,411	R431G	probably benign	Het
Fbxo11	G	A	17: 88,015,613	A115V	possibly damaging	Het
Fgfr2	T	C	7: 130,196,249	T192A	probably benign	Het
Gas7	C	T	11: 67,662,052	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,356,182	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048	Q41H	probably null	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm7535	A	G	17: 17,911,112		probably benign	Het
Gstm1	T	A	3: 108,012,696	N193I	possibly damaging	Het
Hmgb1	A	G	5: 149,050,631	V36A	probably benign	Het
Hrh1	G	T	6: 114,480,232	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,406,674	M53V	probably benign	Het
Iqgap2	T	A	13: 95,635,633	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,587,737	N433K	possibly damaging	Het
Kif1a	T	A	1: 93,052,566		probably benign	Het
Lctl	C	A	9: 64,118,887	Q75K	probably benign	Het
Ldb3	T	A	14: 34,578,651	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,677,095	L156Q	probably damaging	Het
Mark2	G	T	19: 7,281,828	T83K	probably benign	Het
Ms4a15	A	T	19: 10,980,210	D170E	probably damaging	Het
Msantd2	A	G	9: 37,522,760	S99G	possibly damaging	Het
Nemf	G	T	12: 69,353,803	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,394,136	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,804,773	I567V	probably benign	Het
Olfr111	A	C	17: 37,530,642	I222L	probably benign	Het
Olfr1340	A	G	4: 118,727,170	I308V	probably null	Het
Olfr323	T	C	11: 58,625,740	Y102C	probably damaging	Het
Olfr828	T	A	9: 18,815,994	Q100L	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pdk4	T	C	6: 5,491,138	E209G	probably benign	Het
Plch1	T	C	3: 63,710,978	Q712R	probably damaging	Het
Pnpla1	T	A	17: 28,886,878	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,719,258	D134V	probably damaging	Het
Ptov1	T	A	7: 44,864,622	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,708,728	I314V	probably benign	Het
Rabl2	T	C	15: 89,583,966	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,682,091	W191R	probably damaging	Het
Sec22b	T	A	3: 97,921,256	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,688,715		probably null	Het
Sept2	T	C	1: 93,495,599	S51P	probably damaging	Het
Serpinb1a	T	C	13: 32,848,656	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,743,863	T206I	probably benign	Het
Slc25a19	C	A	11: 115,624,206	R42L	probably damaging	Het
St14	G	A	9: 31,091,324		probably benign	Het
Stxbp1	C	T	2: 32,802,905		probably benign	Het
Tas2r131	C	T	6: 132,957,829	V6I	probably benign	Het
Tdo2	T	A	3: 81,964,000	M235L	probably benign	Het
Tenm3	T	G	8: 48,232,105	H2432P	probably damaging	Het
Tmprss15	C	T	16: 79,024,742		probably benign	Het
Tmx1	A	G	12: 70,453,256	N30D	probably benign	Het
Tom1	A	G	8: 75,064,392		probably null	Het
Top2a	T	C	11: 99,022,955	N20S	probably benign	Het
Ttc23l	T	A	15: 10,539,963	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 90,022,659	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,797,451		probably null	Het
Vps11	T	C	9: 44,353,838	Q641R	probably null	Het
Wapl	T	A	14: 34,692,324	I381N	probably damaging	Het
Zmym6	G	A	4: 127,122,808	G794E	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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGGTCTACATACCAGAAACTGAAGG -3'
(R):5'- tgttgctgaccctgttTCTTGTGTTATT -3'

Sequencing Primer
(F):5'- GATGCCAGACTCCTATAAGCATTAC -3'
(R):5'- ttccccagttttagttgtatttactc -3'

Posted On

2013-04-16