Mutagenetix > Incidental Mutations

Incidental Mutation 'R6899:Heatr5b'

541042

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R6899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78803509 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 970 (Y970F)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097281
AA Change: Y970F

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: Y970F

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: 100.0%
3x: 99.9%
10x: 99.0%
20x: 95.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	T	C	10: 43,532,784	E121G	possibly damaging	Het
Abca16	A	G	7: 120,527,041	Y1140C	probably damaging	Het
Actl9	G	A	17: 33,433,559	G198S	probably damaging	Het
Adcy2	A	T	13: 68,982,381	M129K	probably damaging	Het
Apmap	T	A	2: 150,594,308	I107F	probably benign	Het
Arrdc3	T	C	13: 80,889,211	I162T	probably damaging	Het
Asprv1	T	C	6: 86,628,760	L196P	probably damaging	Het
Bag2	A	G	1: 33,746,831	S137P	possibly damaging	Het
Borcs5	T	A	6: 134,710,210	M177K	probably benign	Het
C8b	A	T	4: 104,786,874	K246M	probably benign	Het
Cdo1	A	G	18: 46,723,340	C76R	probably damaging	Het
Ces2b	T	A	8: 104,836,766		probably null	Het
Csf2rb	G	A	15: 78,340,702	S194N	probably benign	Het
Dap3	A	G	3: 88,933,600	F77L	probably benign	Het
Dars	A	G	1: 128,413,746	V44A	possibly damaging	Het
Dhtkd1	T	A	2: 5,917,965	D461V	possibly damaging	Het
Ero1l	A	C	14: 45,292,939	H345Q	probably benign	Het
Fam173b	A	G	15: 31,617,111	S163G	probably benign	Het
Fzd8	T	A	18: 9,214,729	S604T	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gramd1c	T	A	16: 44,040,142	Y64F	probably benign	Het
Hoxc10	A	G	15: 102,967,507	E217G	possibly damaging	Het
Hsd17b14	A	T	7: 45,562,928	H128L	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ifna9	A	G	4: 88,592,063	F108S	probably damaging	Het
Ikbke	A	G	1: 131,275,762	V58A	probably damaging	Het
Inpp5e	G	A	2: 26,400,048	R462C	possibly damaging	Het
Junb	A	G	8: 84,977,724	F236L	probably benign	Het
Klhl36	T	C	8: 119,870,142	V194A	probably benign	Het
Lsg1	A	T	16: 30,582,088	D134E	probably benign	Het
Megf8	G	T	7: 25,360,713	C2343F	probably damaging	Het
Myom3	G	A	4: 135,803,292	G1172R	probably damaging	Het
Nasp	A	T	4: 116,604,333	V548E	probably damaging	Het
Nubpl	T	A	12: 52,310,753	S317T	probably benign	Het
Nup210l	A	G	3: 90,167,897	D838G	possibly damaging	Het
Oxsr1	C	T	9: 119,247,122	A373T	probably benign	Het
Psat1	C	T	19: 15,918,205		probably null	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Slain1	C	T	14: 103,650,779	P45L	possibly damaging	Het
Slc16a8	A	G	15: 79,253,749	V20A	possibly damaging	Het
Slc22a13	A	T	9: 119,196,407	M145K	probably damaging	Het
Slc22a4	G	A	11: 53,988,913	T440I	probably damaging	Het
Slc39a12	C	T	2: 14,389,541	P74L	probably damaging	Het
Sod3	A	G	5: 52,368,708	T250A	unknown	Het
Syne2	A	G	12: 76,095,729		probably null	Het
Tctn1	A	G	5: 122,248,956	Y299H	probably damaging	Het
Tfcp2l1	A	G	1: 118,675,575	M448V	probably benign	Het
Tfpi	C	T	2: 84,444,809	G152S	probably damaging	Het
Thap4	A	G	1: 93,750,969	S32P	probably damaging	Het
Tmem132c	T	A	5: 127,551,680	W549R	probably damaging	Het
Vmn2r29	T	C	7: 7,241,642	E411G	probably damaging	Het
Washc4	C	A	10: 83,576,055	D683E	probably benign	Het
Wdr3	A	T	3: 100,149,901	V462D	possibly damaging	Het
Wdr5b	T	C	16: 36,041,780	S90P	probably damaging	Het
Zfp407	A	G	18: 84,561,434	L518P	possibly damaging	Het
Zfp53	A	G	17: 21,508,445	I247V	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
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
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
X0022:Heatr5b	UTSW	17	78760545	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CAGGCACTTTCTTTAACTTGAGATG -3'
(R):5'- CATTCCTGGAGGCACATGAGAG -3'

Sequencing Primer
(F):5'- GAGATGAATTTGCTTACCCTGCAGC -3'
(R):5'- AAGTTCAAGGCCAGCCCAGG -3'

Posted On

2018-11-28