Mutagenetix > Incidental Mutation

Incidental Mutation 'R9253:Heatr5b'

701690

Institutional Source

Beutler Lab

Gene Symbol

Heatr5b

Ensembl Gene

ENSMUSG00000039414

Gene Name

HEAT repeat containing 5B

Synonyms

2010013B10Rik, A230048G03Rik, D330050P16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R9253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78752906-78835381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78827994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 236 (V236A)

Ref Sequence

ENSEMBL: ENSMUSP00000094882 (fasta)

Gene Model

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

AlphaFold

Q8C547

Predicted Effect

probably benign
Transcript: ENSMUST00000097281
AA Change: V236A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: V236A

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 58,969,941	N685D	probably damaging	Het
Adh4	A	T	3: 138,424,099	I229F	probably damaging	Het
Aldh3b1	T	A	19: 3,915,315	S399C	probably damaging	Het
Arhgef28	C	T	13: 97,988,271	G501D	probably benign	Het
Asb1	C	A	1: 91,540,829	T6N	unknown	Het
Asb18	C	T	1: 89,954,463	V382I	probably benign	Het
AU041133	T	C	10: 82,151,386	I291T	probably benign	Het
B4galnt2	C	T	11: 95,868,350		silent	Het
Bcl7c	T	C	7: 127,707,231		probably benign	Het
Brinp1	T	C	4: 68,792,846	N375S	possibly damaging	Het
C6	A	G	15: 4,735,197	Q125R	probably benign	Het
Card14	T	C	11: 119,321,933	S108P	probably benign	Het
Clec4a2	C	A	6: 123,123,649	T21N	probably damaging	Het
Cntnap2	C	T	6: 46,001,178	L256F	probably benign	Het
Cobll1	G	A	2: 65,151,159	T29I	probably benign	Het
Coq4	A	T	2: 29,795,421	D149V	probably damaging	Het
Dync1i1	T	C	6: 5,769,698	L91S	probably benign	Het
Fat2	T	A	11: 55,310,571	D559V	probably damaging	Het
Gm4779	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	X: 101,793,311		probably benign	Het
Gm996	T	C	2: 25,577,160	H913R	possibly damaging	Het
Gsdmc	A	T	15: 63,804,558	V12E	probably damaging	Het
H2-Ab1	T	C	17: 34,267,404	S146P	probably damaging	Het
Hfe2	T	C	3: 96,528,394	S323P	probably benign	Het
Hmgcr	C	T	13: 96,660,137	C215Y	probably damaging	Het
L3mbtl1	G	T	2: 162,947,712	A57S	probably benign	Het
Lilr4b	G	A	10: 51,481,767	V186I	probably damaging	Het
Map1a	T	C	2: 121,302,342	V1213A	probably benign	Het
Marf1	T	C	16: 14,117,308	E1532G	probably damaging	Het
Mcm6	T	C	1: 128,351,527	Y174C	probably damaging	Het
Miga2	T	A	2: 30,371,227	V178E	probably benign	Het
Myh11	T	A	16: 14,256,495	I174F		Het
Ndufv1	G	T	19: 4,009,412	A211E	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nrp1	T	C	8: 128,502,663	V874A	possibly damaging	Het
Nsf	C	T	11: 103,913,316	G197S	probably null	Het
Olfr118	A	T	17: 37,672,746	H241L	probably benign	Het
Olfr1395	T	C	11: 49,148,995	M246T	probably damaging	Het
Pacs2	A	G	12: 113,050,517	D196G	probably benign	Het
Pbxip1	A	G	3: 89,443,705	D118G	probably benign	Het
Pcdhb11	A	T	18: 37,421,476		probably benign	Het
Pgk2	C	T	17: 40,208,342	G65D	probably damaging	Het
Plcd3	T	C	11: 103,079,634	D193G	probably benign	Het
Plcl2	T	G	17: 50,608,099	M712R	probably damaging	Het
Plxna1	G	A	6: 89,357,540	Q36*	probably null	Het
Plxnb2	A	G	15: 89,167,812	V68A	probably benign	Het
Polr2b	A	G	5: 77,345,377	I1069V	probably benign	Het
Rbfox1	A	G	16: 7,294,109	T200A	probably benign	Het
Rspry1	T	A	8: 94,622,993	V3D	probably damaging	Het
Serpinb6d	T	C	13: 33,671,222	M293T	probably damaging	Het
Slc4a8	A	G	15: 100,783,032	R72G	probably benign	Het
Smarca5	A	C	8: 80,719,715	L452W	probably damaging	Het
Srcin1	T	C	11: 97,525,551	K952E	probably damaging	Het
Synpo2l	G	T	14: 20,666,670	Q79K	possibly damaging	Het
Tmem174	T	C	13: 98,637,295	E9G	possibly damaging	Het
Tmem270	T	C	5: 134,901,790	T206A	probably damaging	Het
Ttn	T	A	2: 76,732,607	T28668S	possibly damaging	Het
Vmn1r118	A	T	7: 20,911,892	S152R	possibly damaging	Het
Vmn2r25	T	A	6: 123,840,001	Q207L	probably damaging	Het
Vmn2r81	T	A	10: 79,293,748	S824R	probably damaging	Het
Vps54	G	A	11: 21,308,771	V733I	probably benign	Het
Zfp518b	G	T	5: 38,672,258	D801E	probably benign	Het
Zgrf1	C	A	3: 127,598,779	P1316Q	probably damaging	Het
Zzef1	C	A	11: 72,848,637		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
R5706:Heatr5b	UTSW	17	78,766,875 (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
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'- CTAACAATTTAAGTGCCTTTAAAGTGG -3'
(R):5'- TGCTGACCCTGTTTCTTGTGTTA -3'

Sequencing Primer
(F):5'- GTGGCCTCCATGCGTAATAAC -3'
(R):5'- CAGTACCTTGCACAGTGTAGGAC -3'

Posted On

2022-03-25