Mutagenetix > Incidental Mutation

Incidental Mutation 'R5706:Heatr5b'

451996

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

043331-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 78766875 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261 (GRCm38)	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120 (GRCm38)	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330 (GRCm38)	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268 (GRCm38)	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578 (GRCm38)	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357 (GRCm38)	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418 (GRCm38)	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318 (GRCm38)	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695 (GRCm38)	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395 (GRCm38)		probably null	Het
Dnah11	T	G	12: 118,023,935 (GRCm38)	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482 (GRCm38)	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116 (GRCm38)	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023 (GRCm38)	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098 (GRCm38)	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652 (GRCm38)	H322Q	possibly damaging	Het
Iqgap3	A	G	3: 88,115,908 (GRCm38)	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627 (GRCm38)	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638 (GRCm38)		probably null	Het
Mc3r	C	A	2: 172,249,690 (GRCm38)	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604 (GRCm38)	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343 (GRCm38)	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017 (GRCm38)	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432 (GRCm38)	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256 (GRCm38)	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113 (GRCm38)	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890 (GRCm38)	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091 (GRCm38)		probably null	Het
Pde3b	G	A	7: 114,521,692 (GRCm38)	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342 (GRCm38)	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398 (GRCm38)		probably null	Het
Slc22a30	G	A	19: 8,344,393 (GRCm38)	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590 (GRCm38)	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881 (GRCm38)	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289 (GRCm38)	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669 (GRCm38)	K106R	possibly damaging	Het
Tenm1	A	G	X: 43,074,695 (GRCm38)	V107A	possibly damaging	Het
Topaz1	A	T	9: 122,799,485 (GRCm38)	I1546F	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225 (GRCm38)	E78*	probably null	Het
Vars	A	G	17: 35,005,481 (GRCm38)		probably null	Het
Vmn2r109	A	T	17: 20,554,305 (GRCm38)	W263R	probably benign	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
R5470:Heatr5b	UTSW	17	78,821,579 (GRCm38)	splice site	probably null
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
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'- GAATGAACACTGCAGCTAAGC -3'
(R):5'- GATACAGCAAGACTTCACTACAGG -3'

Sequencing Primer
(F):5'- CACTGCAGCTAAGCTTTTAGAG -3'
(R):5'- CAGTGGCACTCTGGTTAAACAGC -3'

Posted On

2017-01-03