Mutagenetix > Incidental Mutation

Incidental Mutation 'R4939:Heatr5b'

382962

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

A230048G03Rik, D330050P16Rik, 2010013B10Rik

MMRRC Submission

042538-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79060327-79142793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79069689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1686 (E1686G)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably benign
Transcript: ENSMUST00000097281
AA Change: E1686G

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: E1686G

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,161,962 (GRCm39)	Y365F	possibly damaging	Het
Atp2a1	T	C	7: 126,049,288 (GRCm39)	M585V	probably benign	Het
Brca1	A	G	11: 101,398,876 (GRCm39)	V1572A	probably benign	Het
C1ql4	A	T	15: 98,985,521 (GRCm39)	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,822,502 (GRCm39)		probably null	Het
Cdk6	A	T	5: 3,394,377 (GRCm39)	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Clic4	T	C	4: 134,950,852 (GRCm39)	E113G	probably benign	Het
Creld1	C	A	6: 113,465,140 (GRCm39)	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,104,873 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,530,144 (GRCm39)	S246R	probably damaging	Het
Dnah12	A	T	14: 26,613,481 (GRCm39)	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,683 (GRCm39)	D446V	probably damaging	Het
Dock8	A	T	19: 25,099,764 (GRCm39)	Y629F	probably damaging	Het
Duxf4	T	C	10: 58,071,425 (GRCm39)	N263S	probably benign	Het
E2f8	A	T	7: 48,521,886 (GRCm39)	N405K	probably benign	Het
Flg	A	G	3: 93,187,154 (GRCm39)	N202S	probably benign	Het
Glyatl3	A	G	17: 41,220,914 (GRCm39)		probably null	Het
Gm38999	A	G	7: 43,077,885 (GRCm39)	T63A	possibly damaging	Het
Grap	A	G	11: 61,551,124 (GRCm39)	Y52C	probably damaging	Het
Haus2	T	A	2: 120,449,517 (GRCm39)	I187K	probably damaging	Het
Herc2	A	G	7: 55,856,484 (GRCm39)	D3944G	probably damaging	Het
Hexd	A	T	11: 121,098,542 (GRCm39)	M9L	probably benign	Het
Hoxa3	T	C	6: 52,147,656 (GRCm39)		probably benign	Het
Hspg2	A	T	4: 137,235,342 (GRCm39)	I126F	probably damaging	Het
Itpr1	T	A	6: 108,417,519 (GRCm39)	C123*	probably null	Het
Jmjd1c	T	A	10: 67,081,916 (GRCm39)	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,967,135 (GRCm39)	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,865,245 (GRCm39)	S747R	possibly damaging	Het
Krt26	T	C	11: 99,225,522 (GRCm39)	M320V	probably benign	Het
Lama1	T	G	17: 68,044,470 (GRCm39)	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,002,582 (GRCm39)	D1103G	probably damaging	Het
Lepr	A	T	4: 101,590,635 (GRCm39)	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,600,805 (GRCm39)		probably null	Het
Mcoln2	A	T	3: 145,897,996 (GRCm39)	H39L	probably benign	Het
Mtrex	T	C	13: 113,046,426 (GRCm39)	D308G	possibly damaging	Het
Myh11	T	A	16: 14,057,371 (GRCm39)	T315S	probably benign	Het
Ncapd3	T	C	9: 26,975,165 (GRCm39)		probably null	Het
Nlrp9b	G	T	7: 19,758,421 (GRCm39)	V553F	probably damaging	Het
Nubpl	A	G	12: 52,227,878 (GRCm39)	N129S	probably damaging	Het
Nup214	C	A	2: 31,873,171 (GRCm39)	T255K	probably benign	Het
Or10j3	T	C	1: 173,031,030 (GRCm39)	Y36H	possibly damaging	Het
Or2t46	G	T	11: 58,472,037 (GRCm39)	M122I	probably damaging	Het
Or2y17	A	G	11: 49,231,376 (GRCm39)	T6A	probably benign	Het
Or4d1	G	T	11: 87,804,950 (GRCm39)	P261T	probably damaging	Het
Or52z14	T	C	7: 103,253,458 (GRCm39)	V199A	probably benign	Het
Or5b3	T	A	19: 13,388,219 (GRCm39)	N95K	probably benign	Het
Orc3	G	A	4: 34,593,126 (GRCm39)	Q256*	probably null	Het
Pbrm1	A	G	14: 30,783,580 (GRCm39)	M566V	probably damaging	Het
Pde6b	A	G	5: 108,569,363 (GRCm39)	I357V	probably benign	Het
Pkdrej	A	G	15: 85,704,484 (GRCm39)	I484T	possibly damaging	Het
Plvap	A	G	8: 71,964,083 (GRCm39)	V93A	probably benign	Het
Plxna4	T	C	6: 32,142,697 (GRCm39)	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,255,817 (GRCm39)	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,665,335 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,169,223 (GRCm39)	N997S	probably benign	Het
Rpap2	G	T	5: 107,751,491 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,116,131 (GRCm39)	V683A	probably benign	Het
Ruvbl1	A	G	6: 88,460,021 (GRCm39)		probably null	Het
Sh3pxd2a	A	G	19: 47,266,843 (GRCm39)	Y277H	probably damaging	Het
Shank1	C	T	7: 43,975,586 (GRCm39)	P477S	unknown	Het
Shtn1	T	C	19: 59,010,633 (GRCm39)	E278G	probably benign	Het
Skap2	T	A	6: 51,899,303 (GRCm39)	I109F	possibly damaging	Het
Slc28a3	A	C	13: 58,706,395 (GRCm39)	I615M	probably benign	Het
Slc4a11	A	G	2: 130,526,788 (GRCm39)	L780P	probably damaging	Het
Slc5a4b	T	C	10: 75,917,301 (GRCm39)	E245G	probably benign	Het
Slfn8	C	T	11: 82,894,111 (GRCm39)	A843T	probably benign	Het
Sncaip	A	T	18: 53,040,335 (GRCm39)	Q843L	possibly damaging	Het
Spidr	T	A	16: 15,958,610 (GRCm39)	K51*	probably null	Het
Spopfm2	A	T	3: 94,083,540 (GRCm39)	Y90*	probably null	Het
Tas2r123	T	C	6: 132,824,808 (GRCm39)	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,278,335 (GRCm39)	D757G	probably benign	Het
Tmem132d	A	T	5: 127,873,139 (GRCm39)	V490D	probably damaging	Het
Top2a	T	A	11: 98,900,918 (GRCm39)	H557L	probably damaging	Het
Trafd1	A	G	5: 121,513,254 (GRCm39)	I328T	probably benign	Het
Trappc11	G	A	8: 47,972,700 (GRCm39)	A291V	probably damaging	Het
Tuba1c	A	G	15: 98,935,835 (GRCm39)	Y432C	probably damaging	Het
Utp11	T	G	4: 124,577,043 (GRCm39)	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,542,316 (GRCm39)	T239P	probably damaging	Het
Vwce	A	T	19: 10,622,414 (GRCm39)	N239Y	probably damaging	Het
Yes1	T	C	5: 32,802,457 (GRCm39)		probably null	Het
Zfand6	A	C	7: 84,265,030 (GRCm39)	*224G	probably null	Het
Zfp408	A	T	2: 91,475,450 (GRCm39)	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,795,244 (GRCm39)		probably null	Het
Zfp946	T	C	17: 22,674,418 (GRCm39)	F391L	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGATCCGAGAGAATGGCCAC -3'
(R):5'- GGTGAAATGGATTGCTCATGGC -3'

Sequencing Primer
(F):5'- ACAGCTGAGTTTTCATGGCC -3'
(R):5'- CTTTCAAGGAGGGGTCATCTAGCC -3'

Posted On

2016-04-27