Mutagenetix > Incidental Mutation

Incidental Mutation 'R8465:Heatr4'

656790

Institutional Source

Beutler Lab

Gene Symbol

Heatr4

Ensembl Gene

ENSMUSG00000090843

Gene Name

HEAT repeat containing 4

Synonyms

Gm17673

MMRRC Submission

067909-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83954499-83984852 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 83977933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164935]

AlphaFold

E9Q357

Predicted Effect

probably null
Transcript: ENSMUST00000164935

SMART Domains

Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843

Domain	Start	End	E-Value	Type
low complexity region	153	166	N/A	INTRINSIC
low complexity region	261	272	N/A	INTRINSIC
low complexity region	289	303	N/A	INTRINSIC
low complexity region	533	548	N/A	INTRINSIC
internal_repeat_1	577	711	2.78e-6	PROSPERO
Pfam:HEAT_2	776	890	1.8e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,316,464	L23M	possibly damaging	Het
Acot6	A	T	12: 84,106,441		probably null	Het
Adamtsl3	A	T	7: 82,598,122	N1429Y	probably benign	Het
Adk	T	C	14: 21,103,824	S32P	possibly damaging	Het
Akap13	A	T	7: 75,727,038	M2005L	probably benign	Het
Atp10a	A	T	7: 58,828,310	D1367V	probably benign	Het
Bckdhb	A	G	9: 83,988,862	I142V	probably benign	Het
Brap	C	T	5: 121,679,295	Q322*	probably null	Het
Carmil3	A	T	14: 55,496,848	N401I	probably damaging	Het
Cdan1	A	T	2: 120,728,440	S426T	possibly damaging	Het
Cdc27	C	A	11: 104,517,491	S531I	probably benign	Het
Cela3a	A	T	4: 137,403,874	Y184*	probably null	Het
Cep63	T	C	9: 102,613,377	K178R	probably benign	Het
Cfb	G	A	17: 34,857,314	Q152*	probably null	Het
Cnpy2	G	A	10: 128,326,175	V106I	probably benign	Het
Cntn1	GCTGTCTTC	GC	15: 92,339,523		probably null	Het
Ctc1	G	A	11: 69,026,219	G67D	probably damaging	Het
Cwc27	C	A	13: 104,804,268	L194F	possibly damaging	Het
Cwc27	G	T	13: 104,804,264	P196T	probably benign	Het
Cyp2d12	T	G	15: 82,555,177	S11A	possibly damaging	Het
Ddx55	T	A	5: 124,559,121		probably null	Het
Dedd2	G	T	7: 25,218,906	R75S	probably damaging	Het
Fat2	G	A	11: 55,256,704	S3904F	possibly damaging	Het
Fibp	G	A	19: 5,463,187	V177I	probably damaging	Het
Fsip2	A	T	2: 82,979,940	E2201V	probably benign	Het
Gbp11	C	T	5: 105,325,062	D499N	probably benign	Het
Gfm1	A	G	3: 67,431,699	E45G	probably damaging	Het
Gm884	T	A	11: 103,616,121		probably benign	Het
H2-D1	A	G	17: 35,263,511	Y69C	probably damaging	Het
Hcar1	A	G	5: 123,879,046	F194S	probably damaging	Het
Kcnd2	G	A	6: 21,216,696	C133Y	probably damaging	Het
Kcnq1	A	T	7: 143,425,974	Q619L	probably benign	Het
Kctd12	T	A	14: 102,981,465	R326W	probably damaging	Het
Kel	A	G	6: 41,689,538		probably null	Het
Lipk	A	T	19: 34,046,797	I332F	probably benign	Het
Masp2	A	G	4: 148,612,059	D371G	possibly damaging	Het
Met	A	G	6: 17,571,810	E1376G	probably benign	Het
Mup5	A	T	4: 61,833,778	I78K	probably benign	Het
Mynn	A	T	3: 30,616,641	D526V	probably damaging	Het
Naip6	G	T	13: 100,296,915	T1138N	possibly damaging	Het
Neurod1	G	T	2: 79,454,352	P229Q	probably damaging	Het
Npepps	T	G	11: 97,248,259	R162S	probably damaging	Het
Ntrk3	T	A	7: 78,462,883	Q175L	probably damaging	Het
Obsl1	T	C	1: 75,503,388	T310A	probably damaging	Het
Olfr1062	A	T	2: 86,423,631	M15K	probably benign	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1288	A	T	2: 111,479,080	T99S	probably benign	Het
Olfr25	A	T	9: 38,330,114	I176F	possibly damaging	Het
Pigf	G	A	17: 86,997,536	T193I	possibly damaging	Het
Pkp4	T	C	2: 59,342,181	V904A	possibly damaging	Het
Plekha6	C	T	1: 133,270,040	T141M	probably damaging	Het
Rapgef6	G	A	11: 54,691,482	D1407N	probably benign	Het
Rhobtb3	T	C	13: 75,939,622	D82G	probably damaging	Het
Rims1	T	C	1: 22,428,480	N767S	possibly damaging	Het
Ripor2	T	A	13: 24,665,468		probably benign	Het
Sec14l4	T	A	11: 4,043,948	I296N	probably damaging	Het
Serpinb12	G	T	1: 106,956,612	V363F	probably damaging	Het
Serpinb9c	A	G	13: 33,150,033	I342T	probably damaging	Het
Shmt2	A	G	10: 127,520,076	V133A	probably damaging	Het
Slc30a6	A	G	17: 74,415,666	M243V	probably benign	Het
Slfn2	T	A	11: 83,069,661	N155K	probably damaging	Het
Syne2	A	T	12: 75,854,124	D19V	possibly damaging	Het
Tcl1b3	A	T	12: 105,194,477	I116L	probably benign	Het
Tcp11	A	G	17: 28,067,792	I411T	probably damaging	Het
Tctn1	C	T	5: 122,241,796	A560T	probably benign	Het
Tenm3	C	A	8: 48,229,181	Q2471H	probably damaging	Het
Tnr	A	G	1: 159,886,075	D691G	probably benign	Het
Ube3b	C	T	5: 114,390,390	P150S	probably damaging	Het
Ugt2b5	T	C	5: 87,139,659	I216M	possibly damaging	Het
Unc5d	T	A	8: 28,666,849	R789S	probably damaging	Het
Ush2a	G	A	1: 188,415,678	G934D	probably damaging	Het
Usp6nl	A	T	2: 6,394,541	R70S	probably damaging	Het
Vmn1r181	T	C	7: 23,984,884	I258T	possibly damaging	Het
Vmn2r15	C	A	5: 109,297,436	D41Y	probably damaging	Het
Vmn2r17	T	A	5: 109,452,825	I663N	probably damaging	Het
Vnn3	C	A	10: 23,865,882	Q362K	possibly damaging	Het
Wdr72	A	G	9: 74,152,448	D380G	possibly damaging	Het
Wfdc10	G	A	2: 164,657,260	E97K	possibly damaging	Het
Xdh	A	T	17: 73,899,012	C1002*	probably null	Het
Zscan4e	A	C	7: 11,307,651	V126G	probably damaging	Het

Other mutations in Heatr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1070:Heatr4	UTSW	12	83978067	missense	possibly damaging	0.70
R1225:Heatr4	UTSW	12	83978046	missense	probably benign	0.01
R1398:Heatr4	UTSW	12	83967621	missense	possibly damaging	0.45
R1467:Heatr4	UTSW	12	83978067	missense	possibly damaging	0.70
R1467:Heatr4	UTSW	12	83978067	missense	possibly damaging	0.70
R1626:Heatr4	UTSW	12	83973721	missense	probably benign	0.00
R1728:Heatr4	UTSW	12	83967572	missense	probably benign	0.03
R1779:Heatr4	UTSW	12	83980160	missense	probably benign	0.30
R1784:Heatr4	UTSW	12	83967572	missense	probably benign	0.03
R1860:Heatr4	UTSW	12	83979728	nonsense	probably null
R1903:Heatr4	UTSW	12	83958447	missense	probably damaging	1.00
R1916:Heatr4	UTSW	12	83955817	missense	probably benign	0.21
R1972:Heatr4	UTSW	12	83955020	missense	probably damaging	1.00
R2008:Heatr4	UTSW	12	83979740	missense	probably benign	0.01
R2081:Heatr4	UTSW	12	83980322	missense	probably damaging	0.99
R2093:Heatr4	UTSW	12	83975081	missense	possibly damaging	0.63
R2399:Heatr4	UTSW	12	83980333	missense	probably benign	0.00
R2680:Heatr4	UTSW	12	83980463	missense	possibly damaging	0.91
R4618:Heatr4	UTSW	12	83978067	missense	probably damaging	1.00
R6400:Heatr4	UTSW	12	83955010	missense	probably null	1.00
R6527:Heatr4	UTSW	12	83979763	missense	probably damaging	1.00
R6616:Heatr4	UTSW	12	83980130	missense	probably benign
R6815:Heatr4	UTSW	12	83979727	missense	probably damaging	0.96
R7070:Heatr4	UTSW	12	83969858	missense	probably benign
R7219:Heatr4	UTSW	12	83957870	missense	possibly damaging	0.89
R7329:Heatr4	UTSW	12	83978082	missense	probably benign	0.00
R7477:Heatr4	UTSW	12	83979830	missense	probably damaging	0.97
R7570:Heatr4	UTSW	12	83979644	missense	probably benign	0.10
R7709:Heatr4	UTSW	12	83957725	missense	probably damaging	0.98
R8280:Heatr4	UTSW	12	83969896	missense	probably benign
R8423:Heatr4	UTSW	12	83980330	missense	probably benign	0.04
R8515:Heatr4	UTSW	12	83954704	missense	probably damaging	1.00
R8694:Heatr4	UTSW	12	83980264	missense	probably damaging	1.00
R8947:Heatr4	UTSW	12	83954657	missense	probably benign
R9585:Heatr4	UTSW	12	83967698	missense	probably damaging	0.99
R9717:Heatr4	UTSW	12	83978055	missense	probably damaging	1.00
Z1177:Heatr4	UTSW	12	83980478	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGTCCTCCCAAAGTCAGCTG -3'
(R):5'- TACCTGGTTACTCCCCACAAG -3'

Sequencing Primer
(F):5'- TGGGACTCACGAGCCTATC -3'
(R):5'- GTACACACAGCTGAAGCCATGTC -3'

Posted On

2021-01-18