Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02965:Heatr5b'

365516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

A230048G03Rik, D330050P16Rik, 2010013B10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.461) question?

Stock #

IGL02965

Quality Score

Status

Chromosome

Chromosomal Location

79060327-79142793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79060502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 2058 (H2058Y)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably benign
Transcript: ENSMUST00000097281
AA Change: H2058Y

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: H2058Y

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,071,439 (GRCm39)	K1471R	probably benign	Het
Add1	A	G	5: 34,777,467 (GRCm39)	S77G	probably damaging	Het
Atm	G	T	9: 53,364,863 (GRCm39)	N2642K	probably damaging	Het
Atp6v0a2	T	A	5: 124,767,267 (GRCm39)	M10K	possibly damaging	Het
Btd	T	A	14: 31,389,193 (GRCm39)	S305T	probably damaging	Het
Cmya5	C	T	13: 93,229,065 (GRCm39)	V2008I	probably benign	Het
Cpd	T	G	11: 76,681,814 (GRCm39)		probably benign	Het
Dis3l	A	G	9: 64,217,766 (GRCm39)	F772L	probably damaging	Het
Dlg5	A	T	14: 24,222,091 (GRCm39)	I517N	probably damaging	Het
Fig4	G	A	10: 41,161,661 (GRCm39)	T34M	probably damaging	Het
Flna	C	T	X: 73,270,816 (GRCm39)	V2235I	probably damaging	Het
Flot2	T	C	11: 77,950,031 (GRCm39)	I371T	possibly damaging	Het
Fsip2	G	A	2: 82,813,398 (GRCm39)	S3239N	probably benign	Het
Gbp3	A	G	3: 142,273,343 (GRCm39)	I297V	probably benign	Het
Gcnt3	T	C	9: 69,942,235 (GRCm39)	E111G	probably benign	Het
Gdi1	G	T	X: 73,351,331 (GRCm39)	A148S	probably benign	Het
Hsp90aa1	A	G	12: 110,662,113 (GRCm39)	M1T	probably null	Het
Il22b	A	G	10: 118,130,762 (GRCm39)	S45P	probably damaging	Het
Inppl1	C	A	7: 101,477,478 (GRCm39)	V715F	possibly damaging	Het
Kansl1	T	C	11: 104,225,991 (GRCm39)	Y975C	probably damaging	Het
Kif18b	A	G	11: 102,807,338 (GRCm39)		probably benign	Het
Krt40	T	A	11: 99,432,492 (GRCm39)	R175W	probably damaging	Het
Map3k19	T	C	1: 127,751,803 (GRCm39)	D516G	probably damaging	Het
Mfsd3	A	G	15: 76,587,352 (GRCm39)	H345R	probably benign	Het
Mlkl	A	T	8: 112,058,469 (GRCm39)	I162N	probably benign	Het
Mtnr1a	A	T	8: 45,522,419 (GRCm39)	N58I	probably damaging	Het
Nsmf	T	C	2: 24,951,774 (GRCm39)	V499A	probably damaging	Het
Nudt6	A	G	3: 37,473,655 (GRCm39)	L22P	probably damaging	Het
Nxf7	T	G	X: 134,490,159 (GRCm39)	E35A	probably damaging	Het
Or11h23	A	C	14: 50,948,653 (GRCm39)	I289L	probably damaging	Het
Paf1	T	C	7: 28,095,629 (GRCm39)		probably null	Het
Pcdhb11	G	T	18: 37,557,021 (GRCm39)	V784L	probably benign	Het
Pglyrp2	T	C	17: 32,637,560 (GRCm39)	D156G	probably benign	Het
Pnpt1	A	G	11: 29,106,939 (GRCm39)	D670G	probably damaging	Het
Polr1b	T	A	2: 128,967,443 (GRCm39)	H945Q	probably benign	Het
Ptk6	C	T	2: 180,840,861 (GRCm39)		probably benign	Het
Rftn1	C	T	17: 50,362,280 (GRCm39)	E273K	probably benign	Het
Rnf125	A	G	18: 21,116,168 (GRCm39)	I117V	probably benign	Het
Robo4	A	G	9: 37,321,765 (GRCm39)	K742R	possibly damaging	Het
Sez6l	T	C	5: 112,623,440 (GRCm39)	E37G	probably damaging	Het
Skint4	A	T	4: 111,993,218 (GRCm39)	I306L	probably benign	Het
Sntb1	A	T	15: 55,506,081 (GRCm39)	Y497*	probably null	Het
Snx27	C	A	3: 94,489,733 (GRCm39)	V42L	probably damaging	Het
Sorbs1	T	A	19: 40,365,187 (GRCm39)	T199S	probably benign	Het
Sorcs2	A	G	5: 36,235,301 (GRCm39)	Y72H	probably benign	Het
Spef2	G	T	15: 9,725,192 (GRCm39)		probably benign	Het
Sucla2	G	T	14: 73,816,871 (GRCm39)	V204L	probably benign	Het
Tescl	C	A	7: 24,033,098 (GRCm39)	V76F	probably damaging	Het
Tnxb	T	A	17: 34,928,628 (GRCm39)	Y2681N	possibly damaging	Het
Usp42	T	C	5: 143,713,769 (GRCm39)	T2A	probably damaging	Het
Vdac3-ps1	T	A	13: 18,205,431 (GRCm39)		noncoding transcript	Het
Wapl	T	A	14: 34,461,181 (GRCm39)		probably benign	Het

Other mutations in Heatr5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Heatr5b	APN	17	79,110,863 (GRCm39)	missense	probably damaging	1.00
IGL00418:Heatr5b	APN	17	79,060,570 (GRCm39)	missense	probably damaging	1.00
IGL00786:Heatr5b	APN	17	79,132,063 (GRCm39)	missense	possibly damaging	0.95
IGL00840:Heatr5b	APN	17	79,072,866 (GRCm39)	missense	probably damaging	1.00
IGL01362:Heatr5b	APN	17	79,123,767 (GRCm39)	splice site	probably benign
IGL01419:Heatr5b	APN	17	79,103,939 (GRCm39)	missense	probably benign	0.19
IGL01447:Heatr5b	APN	17	79,137,026 (GRCm39)	missense	probably benign	0.00
IGL01591:Heatr5b	APN	17	79,115,901 (GRCm39)	missense	probably benign	0.01
IGL01743:Heatr5b	APN	17	79,132,069 (GRCm39)	nonsense	probably null
IGL01860:Heatr5b	APN	17	79,115,909 (GRCm39)	missense	probably damaging	0.98
IGL01862:Heatr5b	APN	17	79,103,914 (GRCm39)	missense	possibly damaging	0.96
IGL01984:Heatr5b	APN	17	79,103,926 (GRCm39)	missense	possibly damaging	0.63
IGL02045:Heatr5b	APN	17	79,115,855 (GRCm39)	missense	probably damaging	1.00
IGL02097:Heatr5b	APN	17	79,124,943 (GRCm39)	missense	probably damaging	1.00
IGL02168:Heatr5b	APN	17	79,139,020 (GRCm39)	unclassified	probably benign
IGL02399:Heatr5b	APN	17	79,135,396 (GRCm39)	missense	probably damaging	0.99
IGL02540:Heatr5b	APN	17	79,081,001 (GRCm39)	missense	probably damaging	1.00
IGL02719:Heatr5b	APN	17	79,122,969 (GRCm39)	missense	probably damaging	1.00
IGL02824:Heatr5b	APN	17	79,081,109 (GRCm39)	missense	probably damaging	1.00
IGL03032:Heatr5b	APN	17	79,067,928 (GRCm39)	missense	probably benign	0.45
IGL03243:Heatr5b	APN	17	79,070,509 (GRCm39)	splice site	probably benign
IGL03259:Heatr5b	APN	17	79,098,985 (GRCm39)	missense	probably damaging	1.00
IGL03349:Heatr5b	APN	17	79,062,749 (GRCm39)	missense	probably benign	0.01
R5470_heatr5b_501	UTSW	17	79,129,008 (GRCm39)	splice site	probably null
R0124:Heatr5b	UTSW	17	79,133,646 (GRCm39)	splice site	probably benign
R0285:Heatr5b	UTSW	17	79,115,882 (GRCm39)	missense	probably benign	0.05
R0335:Heatr5b	UTSW	17	79,135,375 (GRCm39)	missense	probably benign	0.15
R0412:Heatr5b	UTSW	17	79,128,283 (GRCm39)	missense	probably benign	0.04
R0601:Heatr5b	UTSW	17	79,075,974 (GRCm39)	missense	probably benign
R0725:Heatr5b	UTSW	17	79,103,825 (GRCm39)	missense	probably benign	0.03
R1178:Heatr5b	UTSW	17	79,120,698 (GRCm39)	missense	probably damaging	1.00
R1444:Heatr5b	UTSW	17	79,062,856 (GRCm39)	splice site	probably benign
R1444:Heatr5b	UTSW	17	79,060,622 (GRCm39)	missense	probably benign	0.17
R1453:Heatr5b	UTSW	17	79,124,992 (GRCm39)	missense	probably damaging	1.00
R1469:Heatr5b	UTSW	17	79,115,813 (GRCm39)	missense	probably damaging	1.00
R1469:Heatr5b	UTSW	17	79,115,813 (GRCm39)	missense	probably damaging	1.00
R1506:Heatr5b	UTSW	17	79,060,576 (GRCm39)	missense	probably damaging	1.00
R1819:Heatr5b	UTSW	17	79,098,940 (GRCm39)	missense	probably damaging	0.98
R1835:Heatr5b	UTSW	17	79,080,992 (GRCm39)	missense	probably damaging	1.00
R1837:Heatr5b	UTSW	17	79,128,180 (GRCm39)	missense	possibly damaging	0.54
R1934:Heatr5b	UTSW	17	79,103,347 (GRCm39)	missense	possibly damaging	0.93
R2014:Heatr5b	UTSW	17	79,121,613 (GRCm39)	missense	probably damaging	1.00
R2037:Heatr5b	UTSW	17	79,136,934 (GRCm39)	nonsense	probably null
R2154:Heatr5b	UTSW	17	79,138,873 (GRCm39)	missense	probably benign	0.00
R2190:Heatr5b	UTSW	17	79,109,185 (GRCm39)	missense	probably damaging	1.00
R2191:Heatr5b	UTSW	17	79,081,106 (GRCm39)	missense	probably damaging	1.00
R2413:Heatr5b	UTSW	17	79,064,290 (GRCm39)	critical splice donor site	probably null
R3424:Heatr5b	UTSW	17	79,075,833 (GRCm39)	missense	possibly damaging	0.58
R3607:Heatr5b	UTSW	17	79,141,646 (GRCm39)	missense	probably damaging	1.00
R3759:Heatr5b	UTSW	17	79,131,969 (GRCm39)	missense	possibly damaging	0.94
R3761:Heatr5b	UTSW	17	79,137,071 (GRCm39)	missense	probably damaging	1.00
R4127:Heatr5b	UTSW	17	79,060,603 (GRCm39)	missense	possibly damaging	0.48
R4242:Heatr5b	UTSW	17	79,064,351 (GRCm39)	missense	probably benign	0.00
R4345:Heatr5b	UTSW	17	79,067,940 (GRCm39)	missense	possibly damaging	0.94
R4534:Heatr5b	UTSW	17	79,118,025 (GRCm39)	missense	possibly damaging	0.91
R4623:Heatr5b	UTSW	17	79,102,548 (GRCm39)	missense	possibly damaging	0.52
R4654:Heatr5b	UTSW	17	79,128,130 (GRCm39)	missense	possibly damaging	0.95
R4939:Heatr5b	UTSW	17	79,069,689 (GRCm39)	missense	probably benign	0.18
R4960:Heatr5b	UTSW	17	79,139,013 (GRCm39)	missense	probably benign	0.01
R5037:Heatr5b	UTSW	17	79,131,939 (GRCm39)	missense	probably benign	0.00
R5051:Heatr5b	UTSW	17	79,102,703 (GRCm39)	missense	probably damaging	1.00
R5153:Heatr5b	UTSW	17	79,102,536 (GRCm39)	nonsense	probably null
R5328:Heatr5b	UTSW	17	79,133,791 (GRCm39)	missense	possibly damaging	0.94
R5346:Heatr5b	UTSW	17	79,135,415 (GRCm39)	missense	probably benign	0.44
R5426:Heatr5b	UTSW	17	79,081,142 (GRCm39)	missense	probably damaging	1.00
R5470:Heatr5b	UTSW	17	79,129,008 (GRCm39)	splice site	probably null
R5472:Heatr5b	UTSW	17	79,109,089 (GRCm39)	missense	probably damaging	1.00
R5553:Heatr5b	UTSW	17	79,060,780 (GRCm39)	splice site	probably null
R5706:Heatr5b	UTSW	17	79,074,304 (GRCm39)	splice site	probably null
R5804:Heatr5b	UTSW	17	79,138,951 (GRCm39)	missense	probably damaging	0.97
R5978:Heatr5b	UTSW	17	79,113,465 (GRCm39)	missense	probably damaging	0.99
R6122:Heatr5b	UTSW	17	79,120,602 (GRCm39)	missense	possibly damaging	0.96
R6153:Heatr5b	UTSW	17	79,138,870 (GRCm39)	missense	possibly damaging	0.56
R6220:Heatr5b	UTSW	17	79,081,106 (GRCm39)	missense	probably damaging	1.00
R6221:Heatr5b	UTSW	17	79,074,383 (GRCm39)	missense	probably benign	0.05
R6255:Heatr5b	UTSW	17	79,110,863 (GRCm39)	missense	probably damaging	1.00
R6291:Heatr5b	UTSW	17	79,069,526 (GRCm39)	missense	probably benign	0.08
R6455:Heatr5b	UTSW	17	79,060,502 (GRCm39)	missense	probably benign	0.37
R6524:Heatr5b	UTSW	17	79,121,535 (GRCm39)	missense	possibly damaging	0.94
R6575:Heatr5b	UTSW	17	79,070,418 (GRCm39)	missense	probably damaging	1.00
R6899:Heatr5b	UTSW	17	79,110,938 (GRCm39)	missense	probably benign	0.03
R7084:Heatr5b	UTSW	17	79,117,992 (GRCm39)	missense	possibly damaging	0.68
R7138:Heatr5b	UTSW	17	79,135,417 (GRCm39)	missense	probably damaging	1.00
R7148:Heatr5b	UTSW	17	79,138,863 (GRCm39)	missense	probably damaging	0.99
R7382:Heatr5b	UTSW	17	79,110,936 (GRCm39)	missense	possibly damaging	0.64
R7420:Heatr5b	UTSW	17	79,115,909 (GRCm39)	missense	probably damaging	1.00
R7436:Heatr5b	UTSW	17	79,075,962 (GRCm39)	missense	probably benign
R7519:Heatr5b	UTSW	17	79,062,646 (GRCm39)	missense	probably benign
R7606:Heatr5b	UTSW	17	79,070,455 (GRCm39)	missense	probably benign
R7673:Heatr5b	UTSW	17	79,103,412 (GRCm39)	missense	probably damaging	0.97
R7782:Heatr5b	UTSW	17	79,103,370 (GRCm39)	missense	probably damaging	0.99
R7790:Heatr5b	UTSW	17	79,126,252 (GRCm39)	missense	probably damaging	0.99
R7922:Heatr5b	UTSW	17	79,067,988 (GRCm39)	missense	probably benign	0.01
R8184:Heatr5b	UTSW	17	79,121,662 (GRCm39)	missense	probably benign	0.03
R8222:Heatr5b	UTSW	17	79,109,130 (GRCm39)	missense	possibly damaging	0.95
R8276:Heatr5b	UTSW	17	79,098,968 (GRCm39)	nonsense	probably null
R8324:Heatr5b	UTSW	17	79,062,793 (GRCm39)	missense	possibly damaging	0.85
R8430:Heatr5b	UTSW	17	79,137,053 (GRCm39)	missense	probably damaging	0.97
R8432:Heatr5b	UTSW	17	79,110,930 (GRCm39)	missense	probably damaging	0.99
R8672:Heatr5b	UTSW	17	79,069,632 (GRCm39)	missense	probably damaging	1.00
R8781:Heatr5b	UTSW	17	79,102,738 (GRCm39)	missense	probably benign	0.19
R8794:Heatr5b	UTSW	17	79,123,015 (GRCm39)	missense	probably benign	0.00
R8808:Heatr5b	UTSW	17	79,072,834 (GRCm39)	missense	possibly damaging	0.92
R8850:Heatr5b	UTSW	17	79,109,188 (GRCm39)	missense	probably benign	0.02
R8893:Heatr5b	UTSW	17	79,069,424 (GRCm39)	splice site	probably benign
R9010:Heatr5b	UTSW	17	79,081,139 (GRCm39)	missense	probably damaging	1.00
R9041:Heatr5b	UTSW	17	79,103,861 (GRCm39)	missense	probably benign	0.12
R9150:Heatr5b	UTSW	17	79,103,448 (GRCm39)	missense	probably benign
R9253:Heatr5b	UTSW	17	79,135,423 (GRCm39)	missense	probably benign	0.13
R9318:Heatr5b	UTSW	17	79,072,831 (GRCm39)	missense	probably benign	0.07
R9448:Heatr5b	UTSW	17	79,068,015 (GRCm39)	missense	probably benign	0.26
R9489:Heatr5b	UTSW	17	79,060,679 (GRCm39)	nonsense	probably null
R9649:Heatr5b	UTSW	17	79,141,524 (GRCm39)	critical splice donor site	probably null
X0022:Heatr5b	UTSW	17	79,067,974 (GRCm39)	missense	probably benign	0.38

Posted On

2015-12-18