Mutagenetix > Incidental Mutation

Incidental Mutation 'R8280:Heatr4'

638162

Institutional Source

Beutler Lab

Gene Symbol

Heatr4

Ensembl Gene

ENSMUSG00000090843

Gene Name

HEAT repeat containing 4

Synonyms

Gm17673

MMRRC Submission

067703-MU

Accession Numbers

Essential gene?

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

Stock #

R8280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84001273-84031626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84016670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 532 (E532D)

Ref Sequence

ENSEMBL: ENSMUSP00000129832 (fasta)

Gene Model

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

AlphaFold

E9Q357

Predicted Effect

probably benign
Transcript: ENSMUST00000164935
AA Change: E532D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843
AA Change: E532D

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% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,086,667 (GRCm39)	V248A	possibly damaging	Het
Alpk2	A	G	18: 65,440,274 (GRCm39)	I373T	probably benign	Het
Anxa1	A	T	19: 20,352,650 (GRCm39)	M308K	possibly damaging	Het
Apob	T	C	12: 8,060,851 (GRCm39)	M3111T	possibly damaging	Het
Cacna1e	T	C	1: 154,344,839 (GRCm39)	D1095G	probably damaging	Het
Cacna2d3	C	T	14: 28,704,328 (GRCm39)	V818I	probably benign	Het
Ces1c	T	A	8: 93,825,809 (GRCm39)	H550L	possibly damaging	Het
Cluap1	A	G	16: 3,729,017 (GRCm39)		probably benign	Het
Cped1	G	T	6: 21,986,820 (GRCm39)	R4L	unknown	Het
Cyb561d1	A	G	3: 108,106,532 (GRCm39)	I229T	probably benign	Het
Cyb561d1	A	G	3: 108,106,713 (GRCm39)	C169R	probably damaging	Het
Dip2a	C	T	10: 76,100,610 (GRCm39)	V1522M	possibly damaging	Het
Diras2	A	G	13: 52,661,863 (GRCm39)	M148T	probably benign	Het
Dnah5	G	T	15: 28,408,538 (GRCm39)	A3508S	probably benign	Het
Fam43b	T	C	4: 138,123,281 (GRCm39)	E13G	probably damaging	Het
Farsa	T	G	8: 85,587,808 (GRCm39)	I113S	probably damaging	Het
Fcrl2	G	T	3: 87,166,364 (GRCm39)	S137*	probably null	Het
Fer1l4	T	C	2: 155,891,620 (GRCm39)	D114G	probably damaging	Het
Gm4181	A	T	14: 51,868,015 (GRCm39)	*185R	probably null	Het
Gm5901	G	A	7: 105,027,105 (GRCm39)		probably null	Het
Il10	C	T	1: 130,947,749 (GRCm39)	P34L	possibly damaging	Het
Irag1	T	C	7: 110,522,828 (GRCm39)	E205G	possibly damaging	Het
Lilra6	A	G	7: 3,916,046 (GRCm39)	L271P	probably benign	Het
Mlh1	A	T	9: 111,078,286 (GRCm39)		probably null	Het
Naaa	T	C	5: 92,411,308 (GRCm39)	Y293C	probably damaging	Het
Ndufaf7	G	A	17: 79,251,275 (GRCm39)	G227R	possibly damaging	Het
Nmral1	A	G	16: 4,531,659 (GRCm39)	S199P	probably damaging	Het
Or1o11	T	C	17: 37,756,744 (GRCm39)	F100L	probably benign	Het
Or4c122	A	T	2: 89,079,234 (GRCm39)	I268K	probably damaging	Het
Or4k2	A	C	14: 50,423,723 (GRCm39)	L318*	probably null	Het
Or4x6	C	A	2: 89,949,742 (GRCm39)	V67L	probably benign	Het
Or6b2	T	C	1: 92,407,729 (GRCm39)	I205V	noncoding transcript	Het
Or8b52	T	A	9: 38,576,783 (GRCm39)	Y119F	probably damaging	Het
Or8g21	C	T	9: 38,906,075 (GRCm39)	V219I	probably benign	Het
Paxbp1	G	T	16: 90,831,123 (GRCm39)	H418N	probably benign	Het
Prtg	A	G	9: 72,813,433 (GRCm39)	Y931C	probably damaging	Het
Robo4	T	C	9: 37,315,372 (GRCm39)	S239P	probably benign	Het
Rragd	A	G	4: 32,995,112 (GRCm39)	R76G	probably benign	Het
Samd8	G	A	14: 21,830,219 (GRCm39)	W278*	probably null	Het
Slc22a8	T	A	19: 8,586,627 (GRCm39)	Y379*	probably null	Het
Taar8c	T	A	10: 23,976,835 (GRCm39)	I326F	probably benign	Het
Tmem245	A	T	4: 56,890,884 (GRCm39)	S715T	possibly damaging	Het
Tnnt3	A	G	7: 142,055,359 (GRCm39)	I1M	unknown	Het
Trio	A	G	15: 27,902,996 (GRCm39)	I214T	unknown	Het
Uqcrfs1	A	T	13: 30,729,071 (GRCm39)	S54T	probably benign	Het
Usf3	A	G	16: 44,038,864 (GRCm39)	T1115A	probably benign	Het
Zscan4f	A	T	7: 11,251,599 (GRCm39)	I212F	probably damaging	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
R6527:Heatr4	UTSW	12	84,026,537 (GRCm39)	missense	probably damaging	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
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'- CACAGGTGGCTGTTACTCAC -3'
(R):5'- ATGGAGGTTACTGTAACTAGCTG -3'

Sequencing Primer
(F):5'- GGCTGTTACTCACCCTTTATGAGG -3'
(R):5'- TTGGCTTCGGTACTAGAGACAAG -3'

Posted On

2020-07-28