Mutagenetix > Incidental Mutation

Incidental Mutation 'R7382:Heatr5b'

572833

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

A230048G03Rik, D330050P16Rik, 2010013B10Rik

MMRRC Submission

045464-MU

Accession Numbers

Essential gene?

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

Stock #

R7382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79060327-79142793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79110936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 971 (R971S)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097281
AA Change: R971S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: R971S

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

0.6265

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 78,903,103 (GRCm39)	H404Q	probably damaging	Het
Aadacl2fm2	T	A	3: 59,651,037 (GRCm39)	M53K	probably benign	Het
Adam8	T	A	7: 139,570,020 (GRCm39)	T82S	possibly damaging	Het
Adgrl2	T	G	3: 148,522,919 (GRCm39)	Q435P		Het
Ahr	A	T	12: 35,554,514 (GRCm39)	M535K	probably damaging	Het
Akap6	A	G	12: 53,188,954 (GRCm39)	I2123V	probably benign	Het
Ankrd2	G	T	19: 42,033,411 (GRCm39)	G318C		Het
Ap4e1	T	A	2: 126,850,822 (GRCm39)		probably null	Het
Atp8a2	G	A	14: 59,892,043 (GRCm39)	P1102S	probably benign	Het
Cacna2d4	C	T	6: 119,216,048 (GRCm39)	S105F	probably damaging	Het
Cad	C	A	5: 31,233,173 (GRCm39)	P1872T	probably benign	Het
Catsperg1	A	G	7: 28,904,269 (GRCm39)	F251L	probably benign	Het
Ccdc18	C	A	5: 108,286,873 (GRCm39)	Q136K	probably damaging	Het
Cd163	A	G	6: 124,288,271 (GRCm39)		probably null	Het
Cd209d	A	T	8: 3,927,965 (GRCm39)	Y46*	probably null	Het
Cdk5rap2	A	T	4: 70,208,262 (GRCm39)	M728K	probably benign	Het
Cdon	A	G	9: 35,389,944 (GRCm39)	D866G	probably damaging	Het
Cenpl	A	G	1: 160,906,031 (GRCm39)	H135R	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Clstn2	A	T	9: 97,681,451 (GRCm39)	L63*	probably null	Het
Cpeb4	A	G	11: 31,822,828 (GRCm39)	T181A	probably damaging	Het
Dlgap1	A	G	17: 71,094,169 (GRCm39)	E830G	probably damaging	Het
Endou	T	A	15: 97,616,807 (GRCm39)	K239*	probably null	Het
Ezh2	T	C	6: 47,528,770 (GRCm39)	N263S	possibly damaging	Het
Fbxw2	T	C	2: 34,697,314 (GRCm39)	D351G	probably benign	Het
Fer1l4	A	T	2: 155,862,669 (GRCm39)	Y1720*	probably null	Het
Fmo9	A	T	1: 166,491,229 (GRCm39)		probably null	Het
Frmpd1	T	A	4: 45,278,880 (GRCm39)	V535E	probably benign	Het
Fxr2	T	C	11: 69,532,382 (GRCm39)	V139A	probably benign	Het
Gpr180	T	G	14: 118,400,035 (GRCm39)	V401G	possibly damaging	Het
Igkv8-34	C	A	6: 70,021,103 (GRCm39)	A120S	probably benign	Het
Inpp5b	T	A	4: 124,645,370 (GRCm39)	H219Q	probably benign	Het
Itprid1	G	T	6: 55,955,404 (GRCm39)	G1004V	probably benign	Het
Kremen2	T	C	17: 23,962,526 (GRCm39)		probably null	Het
Mael	G	A	1: 166,029,167 (GRCm39)	P419S	probably benign	Het
Map1a	A	G	2: 121,121,266 (GRCm39)	T102A	probably damaging	Het
Mfsd2a	A	T	4: 122,845,916 (GRCm39)	I119N	possibly damaging	Het
Muc5b	T	C	7: 141,412,685 (GRCm39)	V1877A	unknown	Het
Myo5c	A	C	9: 75,211,332 (GRCm39)	S1733R	probably damaging	Het
Nelfcd	T	C	2: 174,265,176 (GRCm39)	V248A	probably benign	Het
Npc1	A	T	18: 12,334,763 (GRCm39)	I663N	probably damaging	Het
Olig3	T	A	10: 19,232,413 (GRCm39)	S13T	unknown	Het
Or1j17	G	T	2: 36,578,046 (GRCm39)	E11*	probably null	Het
Or8k39	T	C	2: 86,563,129 (GRCm39)	I276V	probably benign	Het
Piezo2	A	C	18: 63,150,590 (GRCm39)		probably null	Het
Pkd1l2	G	T	8: 117,781,610 (GRCm39)	L812M	possibly damaging	Het
Plcd1	G	A	9: 118,903,759 (GRCm39)	T387I	probably damaging	Het
Ppara	C	T	15: 85,671,429 (GRCm39)	S110L	probably damaging	Het
Ranbp9	C	T	13: 43,578,590 (GRCm39)	R161Q	probably damaging	Het
Rufy2	G	T	10: 62,833,748 (GRCm39)	R270L	probably benign	Het
Septin12	C	T	16: 4,806,346 (GRCm39)	E272K	probably damaging	Het
Sgms1	T	C	19: 32,137,182 (GRCm39)	E128G	possibly damaging	Het
Sh3bgr	G	A	16: 96,007,093 (GRCm39)	S21N	probably benign	Het
Sil1	A	T	18: 35,458,466 (GRCm39)	D176E	probably benign	Het
Slc13a2	A	T	11: 78,295,621 (GRCm39)	Y82N	probably damaging	Het
Slc41a1	C	T	1: 131,774,370 (GRCm39)	P479L	probably damaging	Het
Smarca4	A	G	9: 21,570,229 (GRCm39)	K744R	probably damaging	Het
Stxbp1	T	C	2: 32,688,180 (GRCm39)	D495G	probably damaging	Het
Sugp2	T	C	8: 70,695,494 (GRCm39)	S156P	probably benign	Het
Syt3	A	T	7: 44,042,170 (GRCm39)	D343V	probably damaging	Het
Tbl3	G	T	17: 24,924,265 (GRCm39)	T164N	probably benign	Het
Tbpl2	A	T	2: 23,977,326 (GRCm39)		probably null	Het
Tcf7l2	T	A	19: 55,915,172 (GRCm39)	W461R	unknown	Het
Tmprss11c	A	T	5: 86,379,723 (GRCm39)	F395Y	probably benign	Het
Tnc	A	T	4: 63,932,280 (GRCm39)	Y711*	probably null	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc41	A	G	10: 86,612,374 (GRCm39)	K1216E	probably damaging	Het
Ube2q2	A	C	9: 55,070,298 (GRCm39)	D80A	probably damaging	Het
Ube2u	A	T	4: 100,389,379 (GRCm39)	K227*	probably null	Het
Uhrf2	T	C	19: 30,048,788 (GRCm39)	Y265H	possibly damaging	Het
Vmn1r208	T	G	13: 22,956,756 (GRCm39)	Y247S	probably damaging	Het
Vmn2r27	A	G	6: 124,174,276 (GRCm39)	C525R	probably damaging	Het
Vps13a	T	C	19: 16,596,849 (GRCm39)	T3090A	probably damaging	Het
Whrn	T	C	4: 63,336,573 (GRCm39)	K674R	probably benign	Het
Zfp202	G	T	9: 40,122,801 (GRCm39)	R521I	probably damaging	Het
Zfp433	T	C	10: 81,556,659 (GRCm39)	V387A	probably benign	Het
Zpld1	T	C	16: 55,067,046 (GRCm39)		probably null	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
IGL02965:Heatr5b	APN	17	79,060,502 (GRCm39)	missense	probably benign	0.37
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
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

Predicted Primers

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

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

Posted On

2019-09-13