Mutagenetix > Incidental Mutation

Incidental Mutation 'R9010:Heatr5b'

685603

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

A230048G03Rik, D330050P16Rik, 2010013B10Rik

MMRRC Submission

068840-MU

Accession Numbers

Essential gene?

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

Stock #

R9010 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79060327-79142793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79081139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1371 (S1371I)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably damaging
Transcript: ENSMUST00000097281
AA Change: S1371I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: S1371I

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,119,504 (GRCm39)	M87K	possibly damaging	Het
Angel1	T	C	12: 86,770,153 (GRCm39)	S36G	possibly damaging	Het
Apol6	A	G	15: 76,935,697 (GRCm39)	H322R	unknown	Het
Arfgef2	G	A	2: 166,701,284 (GRCm39)	R694Q	probably damaging	Het
Bank1	A	T	3: 135,761,559 (GRCm39)	N748K	probably benign	Het
Bptf	A	T	11: 106,964,576 (GRCm39)	D1539E	probably damaging	Het
Bst1	T	C	5: 43,982,695 (GRCm39)	I180T	possibly damaging	Het
Cabin1	C	A	10: 75,570,892 (GRCm39)	E795*	probably null	Het
Ccdc168	A	G	1: 44,100,633 (GRCm39)	V155A	possibly damaging	Het
Cckar	T	A	5: 53,857,163 (GRCm39)	T416S	probably damaging	Het
Ccng2	G	T	5: 93,416,616 (GRCm39)	E46*	probably null	Het
Ceacam9	T	C	7: 16,455,916 (GRCm39)	S8P	probably benign	Het
Cercam	G	A	2: 29,766,071 (GRCm39)	D317N	possibly damaging	Het
Cfap54	T	A	10: 92,734,921 (GRCm39)	M2377L	unknown	Het
Cgnl1	A	T	9: 71,558,631 (GRCm39)	L914H	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clec2g	T	A	6: 128,925,688 (GRCm39)	F32L	unknown	Het
Cntnap5c	A	T	17: 58,671,159 (GRCm39)	M1116L	probably benign	Het
Col11a2	C	A	17: 34,283,760 (GRCm39)	F1516L	unknown	Het
Crb2	A	G	2: 37,680,698 (GRCm39)	E542G	probably benign	Het
Crisp1	A	T	17: 40,616,101 (GRCm39)		probably benign	Het
Crybg3	G	A	16: 59,374,702 (GRCm39)	T470M	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif1ad	T	A	19: 5,418,726 (GRCm39)	V93D	possibly damaging	Het
Entpd3	T	C	9: 120,384,825 (GRCm39)	I134T	probably benign	Het
Garre1	A	T	7: 33,938,491 (GRCm39)	C1015S	probably benign	Het
Gm19410	A	G	8: 36,282,011 (GRCm39)	M1865V	probably benign	Het
Gpat2	A	G	2: 127,277,146 (GRCm39)	E728G	probably benign	Het
Ighv1-4	A	T	12: 114,450,949 (GRCm39)	M53K	possibly damaging	Het
Itch	A	T	2: 155,020,991 (GRCm39)	T169S	probably benign	Het
Kifc2	A	G	15: 76,550,885 (GRCm39)	N587S	possibly damaging	Het
Klk1b16	A	T	7: 43,790,177 (GRCm39)	D149V	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lefty2	T	A	1: 180,722,172 (GRCm39)	I170N	probably damaging	Het
Lrrc14b	A	G	13: 74,509,151 (GRCm39)	F419L	possibly damaging	Het
Mkrn2	T	A	6: 115,591,583 (GRCm39)	V302E	possibly damaging	Het
Msh4	T	C	3: 153,595,819 (GRCm39)	K271R	probably benign	Het
Muc6	T	C	7: 141,226,351 (GRCm39)	T1559A	unknown	Het
Naa16	T	G	14: 79,607,482 (GRCm39)	R289S	probably benign	Het
Nab1	T	A	1: 52,529,610 (GRCm39)	I96F	possibly damaging	Het
Ntn4	T	C	10: 93,480,506 (GRCm39)	C77R		Het
Nusap1	A	G	2: 119,479,456 (GRCm39)	T424A	possibly damaging	Het
Or1p1	G	T	11: 74,180,305 (GRCm39)	V278F	probably damaging	Het
Or2w6	A	G	13: 21,842,681 (GRCm39)	Y271H	probably damaging	Het
Or4e2	T	A	14: 52,688,556 (GRCm39)	S229T	possibly damaging	Het
Otog	A	G	7: 45,949,894 (GRCm39)	D267G	probably benign	Het
P2ry2	A	C	7: 100,647,358 (GRCm39)	F316V	probably benign	Het
Padi2	A	G	4: 140,663,924 (GRCm39)	T426A	probably damaging	Het
Pakap	A	T	4: 57,883,192 (GRCm39)	D845V	probably damaging	Het
Plxna2	T	C	1: 194,471,217 (GRCm39)	F996S	possibly damaging	Het
Ppp4r3a	T	C	12: 101,024,591 (GRCm39)	M303V	possibly damaging	Het
Prelid2	A	T	18: 42,065,781 (GRCm39)	W85R	probably damaging	Het
Rabep1	G	A	11: 70,810,034 (GRCm39)	R532H	probably damaging	Het
Rabgap1l	G	A	1: 160,528,443 (GRCm39)	R388W	possibly damaging	Het
Rad51ap2	G	T	12: 11,508,675 (GRCm39)	V866L	probably benign	Het
Rassf3	C	A	10: 121,311,991 (GRCm39)	E9*	probably null	Het
Rbbp4	A	C	4: 129,216,180 (GRCm39)	L189R	probably benign	Het
Rims2	T	A	15: 39,315,786 (GRCm39)	C597*	probably null	Het
Rrp12	T	A	19: 41,871,929 (GRCm39)	I452F	probably benign	Het
Snx29	G	A	16: 11,449,391 (GRCm39)	A279T	probably benign	Het
Tdh	C	T	14: 63,737,704 (GRCm39)	S17N	probably benign	Het
Tgm5	T	C	2: 120,879,371 (GRCm39)	D555G	possibly damaging	Het
Thbs1	A	C	2: 117,953,045 (GRCm39)	D885A	probably damaging	Het
Tmprss9	C	A	10: 80,733,701 (GRCm39)	A921E	unknown	Het
Trrap	T	A	5: 144,783,226 (GRCm39)	F3340I	probably damaging	Het
Vmn1r72	A	T	7: 11,404,145 (GRCm39)	M101K	possibly damaging	Het
Vmn2r117	A	G	17: 23,679,445 (GRCm39)	L593P	probably benign	Het
Washc2	G	A	6: 116,198,823 (GRCm39)	G295E	probably damaging	Het
Zfp273	A	T	13: 67,974,177 (GRCm39)	H435L	probably damaging	Het
Zfp395	A	G	14: 65,623,948 (GRCm39)	E139G	possibly damaging	Het
Zfp512b	G	A	2: 181,230,011 (GRCm39)	A552V	possibly 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
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
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'- TGCTAAGGACAGTTGTAACACAC -3'
(R):5'- TGTCTCAGACAGGCAACCAGAG -3'

Sequencing Primer
(F):5'- GTTGTAACACACAGAGGGTTCTCC -3'
(R):5'- GAGTGGAAACTCAGTGCTGCTC -3'

Posted On

2021-10-11