Mutagenetix > Incidental Mutation

Incidental Mutation 'R5470:Heatr5b'

433501

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

043031-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R5470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 78821579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably null
Transcript: ENSMUST00000097281

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414

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

0.9755

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,168,941 (GRCm38)	I813F	probably damaging	Het
Aqr	G	A	2: 114,157,575 (GRCm38)	L169F	probably damaging	Het
Atp6v1d	G	A	12: 78,845,284 (GRCm38)	R182C	probably benign	Het
Bcl2l13	G	T	6: 120,862,872 (GRCm38)	A44S	probably benign	Het
Brip1	T	C	11: 86,148,542 (GRCm38)	K389E	possibly damaging	Het
C530025M09Rik	G	A	2: 149,831,125 (GRCm38)		probably benign	Het
Ccdc7b	T	A	8: 129,072,600 (GRCm38)	S53T	possibly damaging	Het
Chd8	A	G	14: 52,212,609 (GRCm38)	F154L	probably damaging	Het
Cop1	A	T	1: 159,266,860 (GRCm38)		probably benign	Het
Cyp2c39	A	G	19: 39,513,530 (GRCm38)	K121R	possibly damaging	Het
Cyp3a57	A	G	5: 145,372,619 (GRCm38)	M256V	probably benign	Het
Deup1	T	C	9: 15,582,620 (GRCm38)		probably null	Het
Dnah10	A	G	5: 124,753,168 (GRCm38)	N709D	probably benign	Het
Dthd1	A	G	5: 62,818,766 (GRCm38)	Y261C	probably damaging	Het
Ear-ps2	G	A	14: 44,047,060 (GRCm38)		noncoding transcript	Het
En2	C	T	5: 28,166,924 (GRCm38)	T133M	probably benign	Het
Endou	A	G	15: 97,718,955 (GRCm38)	F229S	probably damaging	Het
Etl4	A	T	2: 20,529,980 (GRCm38)	H79L	probably damaging	Het
Fah	C	T	7: 84,593,185 (GRCm38)		probably null	Het
Fetub	C	T	16: 22,932,331 (GRCm38)	R143C	probably damaging	Het
Fignl1	T	A	11: 11,802,640 (GRCm38)	E138D	probably benign	Het
Fndc3a	A	G	14: 72,574,568 (GRCm38)	L311P	possibly damaging	Het
Gdf9	T	A	11: 53,436,754 (GRCm38)	V179E	probably benign	Het
Gm14129	G	T	2: 148,927,817 (GRCm38)		noncoding transcript	Het
Gorab	A	G	1: 163,392,509 (GRCm38)	I188T	probably damaging	Het
Gpr152	G	A	19: 4,143,129 (GRCm38)	C223Y	probably damaging	Het
Hsd17b3	G	T	13: 64,073,899 (GRCm38)	T104N	probably damaging	Het
Il6ra	C	T	3: 89,885,995 (GRCm38)	V283M	probably benign	Het
Klk1b16	A	T	7: 44,137,331 (GRCm38)	I5F	probably damaging	Het
Krt74	G	A	15: 101,754,465 (GRCm38)		noncoding transcript	Het
Lrch3	T	A	16: 32,998,590 (GRCm38)	N650K	probably damaging	Het
Ly96	A	T	1: 16,709,486 (GRCm38)	E126D	probably benign	Het
Mgarp	C	A	3: 51,391,285 (GRCm38)	R66L	possibly damaging	Het
Naalad2	T	A	9: 18,330,851 (GRCm38)	T586S	probably damaging	Het
Ndufaf3	T	C	9: 108,566,444 (GRCm38)		probably benign	Het
Neb	A	G	2: 52,249,438 (GRCm38)	M3055T	possibly damaging	Het
Neo1	G	T	9: 58,931,067 (GRCm38)	A478D	probably damaging	Het
Nmrk1	A	T	19: 18,639,884 (GRCm38)		probably null	Het
Nsl1	T	C	1: 191,080,540 (GRCm38)	M184T	probably benign	Het
Nup133	T	C	8: 123,930,966 (GRCm38)	N410S	probably benign	Het
Olfr23	T	C	11: 73,940,870 (GRCm38)	I208T	probably benign	Het
Olfr399	A	G	11: 74,053,907 (GRCm38)	I284T	possibly damaging	Het
Olfr610	T	G	7: 103,506,509 (GRCm38)	I146L	probably benign	Het
Opalin	A	G	19: 41,066,531 (GRCm38)	S75P	probably benign	Het
Palb2	C	A	7: 122,114,351 (GRCm38)	C903F	probably damaging	Het
Pcm1	T	A	8: 41,287,683 (GRCm38)	W989R	probably damaging	Het
Pfkfb4	T	A	9: 109,027,593 (GRCm38)	I389N	probably damaging	Het
Pitrm1	T	C	13: 6,553,270 (GRCm38)	C119R	probably benign	Het
Plekha1	T	C	7: 130,908,376 (GRCm38)	V45A	probably damaging	Het
Pold2	G	A	11: 5,873,048 (GRCm38)	P376S	probably damaging	Het
Rcan2	A	G	17: 43,836,283 (GRCm38)	D4G	probably benign	Het
Slc12a1	A	T	2: 125,170,714 (GRCm38)	T299S	probably damaging	Het
Slc22a29	A	T	19: 8,161,516 (GRCm38)	H527Q	probably benign	Het
Slc22a8	G	A	19: 8,607,870 (GRCm38)	R261H	probably damaging	Het
Slc35e2	C	T	4: 155,610,026 (GRCm38)	P10L	probably benign	Het
Slco4a1	T	C	2: 180,474,114 (GRCm38)	F681S	probably benign	Het
Sorcs2	A	T	5: 36,031,183 (GRCm38)	H860Q	probably benign	Het
Strn	A	T	17: 78,656,945 (GRCm38)	H530Q	probably benign	Het
Tex14	A	G	11: 87,551,604 (GRCm38)	R179G	probably damaging	Het
Tjp3	T	C	10: 81,279,547 (GRCm38)	D350G	probably benign	Het
Tnrc6b	G	T	15: 80,916,711 (GRCm38)	R1406L	possibly damaging	Het
Tnxb	A	G	17: 34,716,973 (GRCm38)	D2666G	probably null	Het
Ttn	A	T	2: 76,729,864 (GRCm38)	Y27652N	probably benign	Het
Utp20	T	A	10: 88,817,896 (GRCm38)	E287D	probably benign	Het
Vmn1r45	T	C	6: 89,933,716 (GRCm38)	I91V	probably benign	Het
Wdr72	A	T	9: 74,139,699 (GRCm38)	K76*	probably null	Het
Zfp689	C	T	7: 127,444,253 (GRCm38)	A402T	probably damaging	Het
Zfpm1	A	G	8: 122,333,793 (GRCm38)	E207G	probably damaging	Het
Zhx2	G	T	15: 57,823,074 (GRCm38)	R613L	possibly damaging	Het

Other mutations in Heatr5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Heatr5b	APN	17	78,803,434 (GRCm38)	missense	probably damaging	1.00
IGL00418:Heatr5b	APN	17	78,753,141 (GRCm38)	missense	probably damaging	1.00
IGL00786:Heatr5b	APN	17	78,824,634 (GRCm38)	missense	possibly damaging	0.95
IGL00840:Heatr5b	APN	17	78,765,437 (GRCm38)	missense	probably damaging	1.00
IGL01362:Heatr5b	APN	17	78,816,338 (GRCm38)	splice site	probably benign
IGL01419:Heatr5b	APN	17	78,796,510 (GRCm38)	missense	probably benign	0.19
IGL01447:Heatr5b	APN	17	78,829,597 (GRCm38)	missense	probably benign	0.00
IGL01591:Heatr5b	APN	17	78,808,472 (GRCm38)	missense	probably benign	0.01
IGL01743:Heatr5b	APN	17	78,824,640 (GRCm38)	nonsense	probably null
IGL01860:Heatr5b	APN	17	78,808,480 (GRCm38)	missense	probably damaging	0.98
IGL01862:Heatr5b	APN	17	78,796,485 (GRCm38)	missense	possibly damaging	0.96
IGL01984:Heatr5b	APN	17	78,796,497 (GRCm38)	missense	possibly damaging	0.63
IGL02045:Heatr5b	APN	17	78,808,426 (GRCm38)	missense	probably damaging	1.00
IGL02097:Heatr5b	APN	17	78,817,514 (GRCm38)	missense	probably damaging	1.00
IGL02168:Heatr5b	APN	17	78,831,591 (GRCm38)	unclassified	probably benign
IGL02399:Heatr5b	APN	17	78,827,967 (GRCm38)	missense	probably damaging	0.99
IGL02540:Heatr5b	APN	17	78,773,572 (GRCm38)	missense	probably damaging	1.00
IGL02719:Heatr5b	APN	17	78,815,540 (GRCm38)	missense	probably damaging	1.00
IGL02824:Heatr5b	APN	17	78,773,680 (GRCm38)	missense	probably damaging	1.00
IGL02965:Heatr5b	APN	17	78,753,073 (GRCm38)	missense	probably benign	0.37
IGL03032:Heatr5b	APN	17	78,760,499 (GRCm38)	missense	probably benign	0.45
IGL03243:Heatr5b	APN	17	78,763,080 (GRCm38)	splice site	probably benign
IGL03259:Heatr5b	APN	17	78,791,556 (GRCm38)	missense	probably damaging	1.00
IGL03349:Heatr5b	APN	17	78,755,320 (GRCm38)	missense	probably benign	0.01
R5470_heatr5b_501	UTSW	17	78,821,579 (GRCm38)	splice site	probably null
R0124:Heatr5b	UTSW	17	78,826,217 (GRCm38)	splice site	probably benign
R0285:Heatr5b	UTSW	17	78,808,453 (GRCm38)	missense	probably benign	0.05
R0335:Heatr5b	UTSW	17	78,827,946 (GRCm38)	missense	probably benign	0.15
R0412:Heatr5b	UTSW	17	78,820,854 (GRCm38)	missense	probably benign	0.04
R0601:Heatr5b	UTSW	17	78,768,545 (GRCm38)	missense	probably benign
R0725:Heatr5b	UTSW	17	78,796,396 (GRCm38)	missense	probably benign	0.03
R1178:Heatr5b	UTSW	17	78,813,269 (GRCm38)	missense	probably damaging	1.00
R1444:Heatr5b	UTSW	17	78,755,427 (GRCm38)	splice site	probably benign
R1444:Heatr5b	UTSW	17	78,753,193 (GRCm38)	missense	probably benign	0.17
R1453:Heatr5b	UTSW	17	78,817,563 (GRCm38)	missense	probably damaging	1.00
R1469:Heatr5b	UTSW	17	78,808,384 (GRCm38)	missense	probably damaging	1.00
R1469:Heatr5b	UTSW	17	78,808,384 (GRCm38)	missense	probably damaging	1.00
R1506:Heatr5b	UTSW	17	78,753,147 (GRCm38)	missense	probably damaging	1.00
R1819:Heatr5b	UTSW	17	78,791,511 (GRCm38)	missense	probably damaging	0.98
R1835:Heatr5b	UTSW	17	78,773,563 (GRCm38)	missense	probably damaging	1.00
R1837:Heatr5b	UTSW	17	78,820,751 (GRCm38)	missense	possibly damaging	0.54
R1934:Heatr5b	UTSW	17	78,795,918 (GRCm38)	missense	possibly damaging	0.93
R2014:Heatr5b	UTSW	17	78,814,184 (GRCm38)	missense	probably damaging	1.00
R2037:Heatr5b	UTSW	17	78,829,505 (GRCm38)	nonsense	probably null
R2154:Heatr5b	UTSW	17	78,831,444 (GRCm38)	missense	probably benign	0.00
R2190:Heatr5b	UTSW	17	78,801,756 (GRCm38)	missense	probably damaging	1.00
R2191:Heatr5b	UTSW	17	78,773,677 (GRCm38)	missense	probably damaging	1.00
R2413:Heatr5b	UTSW	17	78,756,861 (GRCm38)	critical splice donor site	probably null
R3424:Heatr5b	UTSW	17	78,768,404 (GRCm38)	missense	possibly damaging	0.58
R3607:Heatr5b	UTSW	17	78,834,217 (GRCm38)	missense	probably damaging	1.00
R3759:Heatr5b	UTSW	17	78,824,540 (GRCm38)	missense	possibly damaging	0.94
R3761:Heatr5b	UTSW	17	78,829,642 (GRCm38)	missense	probably damaging	1.00
R4127:Heatr5b	UTSW	17	78,753,174 (GRCm38)	missense	possibly damaging	0.48
R4242:Heatr5b	UTSW	17	78,756,922 (GRCm38)	missense	probably benign	0.00
R4345:Heatr5b	UTSW	17	78,760,511 (GRCm38)	missense	possibly damaging	0.94
R4534:Heatr5b	UTSW	17	78,810,596 (GRCm38)	missense	possibly damaging	0.91
R4623:Heatr5b	UTSW	17	78,795,119 (GRCm38)	missense	possibly damaging	0.52
R4654:Heatr5b	UTSW	17	78,820,701 (GRCm38)	missense	possibly damaging	0.95
R4939:Heatr5b	UTSW	17	78,762,260 (GRCm38)	missense	probably benign	0.18
R4960:Heatr5b	UTSW	17	78,831,584 (GRCm38)	missense	probably benign	0.01
R5037:Heatr5b	UTSW	17	78,824,510 (GRCm38)	missense	probably benign	0.00
R5051:Heatr5b	UTSW	17	78,795,274 (GRCm38)	missense	probably damaging	1.00
R5153:Heatr5b	UTSW	17	78,795,107 (GRCm38)	nonsense	probably null
R5328:Heatr5b	UTSW	17	78,826,362 (GRCm38)	missense	possibly damaging	0.94
R5346:Heatr5b	UTSW	17	78,827,986 (GRCm38)	missense	probably benign	0.44
R5426:Heatr5b	UTSW	17	78,773,713 (GRCm38)	missense	probably damaging	1.00
R5472:Heatr5b	UTSW	17	78,801,660 (GRCm38)	missense	probably damaging	1.00
R5553:Heatr5b	UTSW	17	78,753,351 (GRCm38)	splice site	probably null
R5706:Heatr5b	UTSW	17	78,766,875 (GRCm38)	splice site	probably null
R5804:Heatr5b	UTSW	17	78,831,522 (GRCm38)	missense	probably damaging	0.97
R5978:Heatr5b	UTSW	17	78,806,036 (GRCm38)	missense	probably damaging	0.99
R6122:Heatr5b	UTSW	17	78,813,173 (GRCm38)	missense	possibly damaging	0.96
R6153:Heatr5b	UTSW	17	78,831,441 (GRCm38)	missense	possibly damaging	0.56
R6220:Heatr5b	UTSW	17	78,773,677 (GRCm38)	missense	probably damaging	1.00
R6221:Heatr5b	UTSW	17	78,766,954 (GRCm38)	missense	probably benign	0.05
R6255:Heatr5b	UTSW	17	78,803,434 (GRCm38)	missense	probably damaging	1.00
R6291:Heatr5b	UTSW	17	78,762,097 (GRCm38)	missense	probably benign	0.08
R6455:Heatr5b	UTSW	17	78,753,073 (GRCm38)	missense	probably benign	0.37
R6524:Heatr5b	UTSW	17	78,814,106 (GRCm38)	missense	possibly damaging	0.94
R6575:Heatr5b	UTSW	17	78,762,989 (GRCm38)	missense	probably damaging	1.00
R6899:Heatr5b	UTSW	17	78,803,509 (GRCm38)	missense	probably benign	0.03
R7084:Heatr5b	UTSW	17	78,810,563 (GRCm38)	missense	possibly damaging	0.68
R7138:Heatr5b	UTSW	17	78,827,988 (GRCm38)	missense	probably damaging	1.00
R7148:Heatr5b	UTSW	17	78,831,434 (GRCm38)	missense	probably damaging	0.99
R7382:Heatr5b	UTSW	17	78,803,507 (GRCm38)	missense	possibly damaging	0.64
R7420:Heatr5b	UTSW	17	78,808,480 (GRCm38)	missense	probably damaging	1.00
R7436:Heatr5b	UTSW	17	78,768,533 (GRCm38)	missense	probably benign
R7519:Heatr5b	UTSW	17	78,755,217 (GRCm38)	missense	probably benign
R7606:Heatr5b	UTSW	17	78,763,026 (GRCm38)	missense	probably benign
R7673:Heatr5b	UTSW	17	78,795,983 (GRCm38)	missense	probably damaging	0.97
R7782:Heatr5b	UTSW	17	78,795,941 (GRCm38)	missense	probably damaging	0.99
R7790:Heatr5b	UTSW	17	78,818,823 (GRCm38)	missense	probably damaging	0.99
R7922:Heatr5b	UTSW	17	78,760,559 (GRCm38)	missense	probably benign	0.01
R8184:Heatr5b	UTSW	17	78,814,233 (GRCm38)	missense	probably benign	0.03
R8222:Heatr5b	UTSW	17	78,801,701 (GRCm38)	missense	possibly damaging	0.95
R8276:Heatr5b	UTSW	17	78,791,539 (GRCm38)	nonsense	probably null
R8324:Heatr5b	UTSW	17	78,755,364 (GRCm38)	missense	possibly damaging	0.85
R8430:Heatr5b	UTSW	17	78,829,624 (GRCm38)	missense	probably damaging	0.97
R8432:Heatr5b	UTSW	17	78,803,501 (GRCm38)	missense	probably damaging	0.99
R8672:Heatr5b	UTSW	17	78,762,203 (GRCm38)	missense	probably damaging	1.00
R8781:Heatr5b	UTSW	17	78,795,309 (GRCm38)	missense	probably benign	0.19
R8794:Heatr5b	UTSW	17	78,815,586 (GRCm38)	missense	probably benign	0.00
R8808:Heatr5b	UTSW	17	78,765,405 (GRCm38)	missense	possibly damaging	0.92
R8850:Heatr5b	UTSW	17	78,801,759 (GRCm38)	missense	probably benign	0.02
R8893:Heatr5b	UTSW	17	78,761,995 (GRCm38)	splice site	probably benign
R9010:Heatr5b	UTSW	17	78,773,710 (GRCm38)	missense	probably damaging	1.00
R9041:Heatr5b	UTSW	17	78,796,432 (GRCm38)	missense	probably benign	0.12
R9150:Heatr5b	UTSW	17	78,796,019 (GRCm38)	missense	probably benign
R9253:Heatr5b	UTSW	17	78,827,994 (GRCm38)	missense	probably benign	0.13
R9318:Heatr5b	UTSW	17	78,765,402 (GRCm38)	missense	probably benign	0.07
R9448:Heatr5b	UTSW	17	78,760,586 (GRCm38)	missense	probably benign	0.26
R9489:Heatr5b	UTSW	17	78,753,250 (GRCm38)	nonsense	probably null
R9649:Heatr5b	UTSW	17	78,834,095 (GRCm38)	critical splice donor site	probably null
X0022:Heatr5b	UTSW	17	78,760,545 (GRCm38)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- GTACCTATGGACGCTTCCTG -3'
(R):5'- TCTGTTCAACAGCGTTTTAATGTCC -3'

Sequencing Primer
(F):5'- CCTATGGACGCTTCCTGAATAAGAG -3'
(R):5'- CGAAGCTTCATGACCTGAGTTCAG -3'

Posted On

2016-10-06