Mutagenetix > Incidental Mutation

Incidental Mutation 'R6527:Heatr4'

522014

Institutional Source

Beutler Lab

Gene Symbol

Heatr4

Ensembl Gene

ENSMUSG00000090843

Gene Name

HEAT repeat containing 4

Synonyms

Gm17673

MMRRC Submission

044653-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84001273-84031626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84026537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 240 (G240E)

Ref Sequence

ENSEMBL: ENSMUSP00000129832 (fasta)

Gene Model

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

AlphaFold

E9Q357

Predicted Effect

probably damaging
Transcript: ENSMUST00000164935
AA Change: G240E

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

SMART Domains

Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843
AA Change: G240E

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,288 (GRCm39)	T826A	probably damaging	Het
Abca16	T	A	7: 120,076,995 (GRCm39)	I686N	possibly damaging	Het
Abcb6	T	C	1: 75,154,132 (GRCm39)		probably null	Het
Adgrl3	A	C	5: 81,935,364 (GRCm39)	E1299A	probably damaging	Het
Amd2	A	C	10: 35,586,802 (GRCm39)	Y252D	probably damaging	Het
Cfap74	A	G	4: 155,506,722 (GRCm39)		probably null	Het
Dhx29	G	T	13: 113,069,076 (GRCm39)	K135N	probably damaging	Het
Dlg5	T	A	14: 24,240,516 (GRCm39)	D245V	possibly damaging	Het
Dscaml1	C	T	9: 45,623,482 (GRCm39)	Q83*	probably null	Het
Dsp	T	A	13: 38,379,849 (GRCm39)	L1599Q	probably damaging	Het
Duox2	A	G	2: 122,125,095 (GRCm39)	V369A	probably benign	Het
Flacc1	T	C	1: 58,731,572 (GRCm39)	M1V	probably null	Het
Gbe1	T	A	16: 70,230,560 (GRCm39)		probably null	Het
Gm7298	A	G	6: 121,746,669 (GRCm39)	K600R	probably benign	Het
Jakmip2	A	G	18: 43,689,589 (GRCm39)	V651A	possibly damaging	Het
Jam3	C	T	9: 27,066,640 (GRCm39)	R8Q	unknown	Het
Letm2	A	G	8: 26,082,522 (GRCm39)		probably benign	Het
Lmod3	T	C	6: 97,224,339 (GRCm39)	D494G	probably benign	Het
Mast2	T	C	4: 116,172,136 (GRCm39)	D604G	probably damaging	Het
Mif4gd	C	T	11: 115,500,101 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,077,274 (GRCm39)	E112G	possibly damaging	Het
Mtus2	A	G	5: 148,214,408 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,753,433 (GRCm38)	H1103R	probably benign	Het
Nudt14	T	A	12: 112,898,507 (GRCm39)	I198F	possibly damaging	Het
Or11j4	T	A	14: 50,630,885 (GRCm39)	L224*	probably null	Het
Or13p3	T	A	4: 118,567,045 (GRCm39)	F147Y	possibly damaging	Het
Or1n1b	T	C	2: 36,780,594 (GRCm39)	T89A	probably benign	Het
Osbpl8	T	C	10: 111,129,066 (GRCm39)	I884T	probably benign	Het
Podxl2	T	C	6: 88,819,912 (GRCm39)	N550S	probably damaging	Het
Ppp1r9a	A	G	6: 5,045,949 (GRCm39)	Y151C	probably damaging	Het
Prss42	T	C	9: 110,629,924 (GRCm39)	V226A	possibly damaging	Het
Psmd12	A	G	11: 107,379,794 (GRCm39)	I116V	probably damaging	Het
Psme4	A	C	11: 30,782,175 (GRCm39)	I872L	probably benign	Het
Rab11fip1	A	T	8: 27,664,420 (GRCm39)	V65E	probably damaging	Het
Ros1	T	C	10: 52,019,473 (GRCm39)	N700S	possibly damaging	Het
Slc15a4	G	A	5: 127,673,773 (GRCm39)	T547M	probably damaging	Het
Slfn3	T	A	11: 83,103,932 (GRCm39)	C268S	probably benign	Het
Smc5	T	C	19: 23,205,554 (GRCm39)	Q794R	probably benign	Het
Sqor	A	G	2: 122,651,206 (GRCm39)	Y434C	probably damaging	Het
Steap4	T	A	5: 8,028,502 (GRCm39)	L360H	probably damaging	Het
Sycp1	A	G	3: 102,806,203 (GRCm39)	V496A	probably benign	Het
Tmem161b	T	G	13: 84,420,383 (GRCm39)	M128R	probably benign	Het
Tmem59l	T	C	8: 70,938,775 (GRCm39)	E102G	probably damaging	Het
Tnks	A	T	8: 35,340,247 (GRCm39)	V457D	probably benign	Het
Tomt	A	G	7: 101,549,599 (GRCm39)	Y230H	probably damaging	Het
Trim37	A	G	11: 87,080,910 (GRCm39)	N561D	probably damaging	Het
V1ra8	T	A	6: 90,180,295 (GRCm39)	I166K	probably damaging	Het
Vmn1r56	A	G	7: 5,199,575 (GRCm39)	V14A	probably benign	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwa8	A	T	14: 79,184,653 (GRCm39)	S384C	possibly damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp984	T	C	4: 147,840,381 (GRCm39)	N157D	probably benign	Het
Zzef1	G	A	11: 72,765,816 (GRCm39)	D1448N	probably benign	Het

Other mutations in Heatr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1070:Heatr4	UTSW	12	84,024,841 (GRCm39)	missense	possibly damaging	0.70
R1225:Heatr4	UTSW	12	84,024,820 (GRCm39)	missense	probably benign	0.01
R1398:Heatr4	UTSW	12	84,014,395 (GRCm39)	missense	possibly damaging	0.45
R1467:Heatr4	UTSW	12	84,024,841 (GRCm39)	missense	possibly damaging	0.70
R1467:Heatr4	UTSW	12	84,024,841 (GRCm39)	missense	possibly damaging	0.70
R1626:Heatr4	UTSW	12	84,020,495 (GRCm39)	missense	probably benign	0.00
R1728:Heatr4	UTSW	12	84,014,346 (GRCm39)	missense	probably benign	0.03
R1779:Heatr4	UTSW	12	84,026,934 (GRCm39)	missense	probably benign	0.30
R1784:Heatr4	UTSW	12	84,014,346 (GRCm39)	missense	probably benign	0.03
R1860:Heatr4	UTSW	12	84,026,502 (GRCm39)	nonsense	probably null
R1903:Heatr4	UTSW	12	84,005,221 (GRCm39)	missense	probably damaging	1.00
R1916:Heatr4	UTSW	12	84,002,591 (GRCm39)	missense	probably benign	0.21
R1972:Heatr4	UTSW	12	84,001,794 (GRCm39)	missense	probably damaging	1.00
R2008:Heatr4	UTSW	12	84,026,514 (GRCm39)	missense	probably benign	0.01
R2081:Heatr4	UTSW	12	84,027,096 (GRCm39)	missense	probably damaging	0.99
R2093:Heatr4	UTSW	12	84,021,855 (GRCm39)	missense	possibly damaging	0.63
R2399:Heatr4	UTSW	12	84,027,107 (GRCm39)	missense	probably benign	0.00
R2680:Heatr4	UTSW	12	84,027,237 (GRCm39)	missense	possibly damaging	0.91
R4618:Heatr4	UTSW	12	84,024,841 (GRCm39)	missense	probably damaging	1.00
R6400:Heatr4	UTSW	12	84,001,784 (GRCm39)	missense	probably null	1.00
R6616:Heatr4	UTSW	12	84,026,904 (GRCm39)	missense	probably benign
R6815:Heatr4	UTSW	12	84,026,501 (GRCm39)	missense	probably damaging	0.96
R7070:Heatr4	UTSW	12	84,016,632 (GRCm39)	missense	probably benign
R7219:Heatr4	UTSW	12	84,004,644 (GRCm39)	missense	possibly damaging	0.89
R7329:Heatr4	UTSW	12	84,024,856 (GRCm39)	missense	probably benign	0.00
R7477:Heatr4	UTSW	12	84,026,604 (GRCm39)	missense	probably damaging	0.97
R7570:Heatr4	UTSW	12	84,026,418 (GRCm39)	missense	probably benign	0.10
R7709:Heatr4	UTSW	12	84,004,499 (GRCm39)	missense	probably damaging	0.98
R8280:Heatr4	UTSW	12	84,016,670 (GRCm39)	missense	probably benign
R8423:Heatr4	UTSW	12	84,027,104 (GRCm39)	missense	probably benign	0.04
R8465:Heatr4	UTSW	12	84,024,707 (GRCm39)	critical splice donor site	probably null
R8515:Heatr4	UTSW	12	84,001,478 (GRCm39)	missense	probably damaging	1.00
R8694:Heatr4	UTSW	12	84,027,038 (GRCm39)	missense	probably damaging	1.00
R8947:Heatr4	UTSW	12	84,001,431 (GRCm39)	missense	probably benign
R9585:Heatr4	UTSW	12	84,014,472 (GRCm39)	missense	probably damaging	0.99
R9717:Heatr4	UTSW	12	84,024,829 (GRCm39)	missense	probably damaging	1.00
Z1177:Heatr4	UTSW	12	84,027,252 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACTTTGCCAGGCCTGCTTAAG -3'
(R):5'- ATTTCCTGGACAAAGCCGC -3'

Sequencing Primer
(F):5'- AGGCCAGCCTACCTGAAGTAG -3'
(R):5'- TGGACAAAGCCGCCATCAC -3'

Posted On

2018-06-06