Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00786:Heatr5b'

13529

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: 0.350) question?

Stock #

IGL00786

Quality Score

Status

Chromosome

Chromosomal Location

79060327-79142793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79132063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 347 (H347N)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097281
AA Change: H347N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: H347N

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,265,851 (GRCm39)	N242S	probably benign	Het
Akap9	C	A	5: 4,120,522 (GRCm39)	A3646E	probably damaging	Het
Akt1	C	A	12: 112,624,105 (GRCm39)	G233V	probably damaging	Het
B3gat3	A	G	19: 8,904,149 (GRCm39)	E320G	probably benign	Het
Bltp3a	T	A	17: 28,098,266 (GRCm39)	I136N	probably damaging	Het
Bpifa5	G	A	2: 154,009,172 (GRCm39)	C238Y	probably damaging	Het
Camkmt	T	C	17: 85,403,919 (GRCm39)	V47A	probably damaging	Het
Ccnl2	C	T	4: 155,905,337 (GRCm39)	R284W	probably damaging	Het
Chl1	G	T	6: 103,652,106 (GRCm39)	V341F	probably damaging	Het
Cst3	A	T	2: 148,714,797 (GRCm39)	C93*	probably null	Het
Ctsh	T	C	9: 89,946,291 (GRCm39)	V119A	probably damaging	Het
Dmap1	C	T	4: 117,533,593 (GRCm39)	R225Q	possibly damaging	Het
Ehbp1	A	G	11: 22,050,460 (GRCm39)	S479P	possibly damaging	Het
Eml2	A	G	7: 18,936,507 (GRCm39)	Y528C	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
G6pc3	A	G	11: 102,083,931 (GRCm39)	M186V	probably benign	Het
Gpr37	A	G	6: 25,669,317 (GRCm39)	V509A	possibly damaging	Het
Idh1	A	G	1: 65,205,402 (GRCm39)	S188P	probably damaging	Het
Mphosph8	T	C	14: 56,910,001 (GRCm39)	V118A	probably benign	Het
Mthfsd	C	T	8: 121,831,207 (GRCm39)	R91Q	probably damaging	Het
Otor	G	A	2: 142,921,846 (GRCm39)	V86I	probably damaging	Het
Pdk2	T	A	11: 94,922,761 (GRCm39)	T140S	probably benign	Het
Pnliprp2	A	G	19: 58,748,929 (GRCm39)	N78S	probably benign	Het
Rimbp3	C	T	16: 17,029,552 (GRCm39)	T992M	probably damaging	Het
Sdad1	A	T	5: 92,451,632 (GRCm39)		probably null	Het
Sidt2	A	G	9: 45,861,101 (GRCm39)	S71P	possibly damaging	Het
Slc44a2	T	A	9: 21,257,231 (GRCm39)	V390E	probably damaging	Het
Tmem168	T	C	6: 13,602,674 (GRCm39)	I231V	probably benign	Het
Vim	T	C	2: 13,583,321 (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
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
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

2012-12-06