Mutagenetix > Incidental Mutation

Incidental Mutation 'R8515:Heatr4'

656103

Institutional Source

Beutler Lab

Gene Symbol

Heatr4

Ensembl Gene

ENSMUSG00000090843

Gene Name

HEAT repeat containing 4

Synonyms

Gm17673

MMRRC Submission

067847-MU

Accession Numbers

Essential gene?

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

Stock #

R8515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84001273-84031626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84001478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 888 (I888T)

Ref Sequence

ENSEMBL: ENSMUSP00000129832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053744] [ENSMUST00000164935]

AlphaFold

E9Q357

Predicted Effect

probably benign
Transcript: ENSMUST00000053744

SMART Domains

Protein: ENSMUSP00000057984
Gene: ENSMUSG00000046791

Domain	Start	End	E-Value	Type
low complexity region	15	22	N/A	INTRINSIC
low complexity region	44	65	N/A	INTRINSIC
JmjC	266	394	5.07e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164935
AA Change: I888T

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

SMART Domains

Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843
AA Change: I888T

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: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,902,112 (GRCm39)	M94V	possibly damaging	Het
Acss3	A	G	10: 106,784,524 (GRCm39)	I566T	possibly damaging	Het
Adcy3	T	C	12: 4,262,187 (GRCm39)	V1080A	probably damaging	Het
Aldh1b1	C	T	4: 45,803,818 (GRCm39)	T452I	probably damaging	Het
Bptf	A	T	11: 106,946,064 (GRCm39)	S2392T	possibly damaging	Het
Ccnb2	A	G	9: 70,320,382 (GRCm39)		probably null	Het
Clec4a4	T	A	6: 122,980,982 (GRCm39)	Y72N	probably benign	Het
Clk4	G	A	11: 51,166,088 (GRCm39)	R198Q	probably damaging	Het
Coro2a	ACCAGAAGAGCCATCCAG	ACCAG	4: 46,544,117 (GRCm39)		probably null	Het
Ctbs	T	A	3: 146,164,568 (GRCm39)	Y240*	probably null	Het
Cyp2d22	T	C	15: 82,258,113 (GRCm39)	D169G	probably benign	Het
Dnah11	C	T	12: 117,939,533 (GRCm39)	V3196I	probably damaging	Het
Fam110b	T	C	4: 5,799,380 (GRCm39)	V266A	probably benign	Het
Fbxo40	A	G	16: 36,791,015 (GRCm39)	S32P	probably damaging	Het
Gm4787	T	A	12: 81,424,043 (GRCm39)	H705L	probably benign	Het
Grik1	A	T	16: 87,720,170 (GRCm39)	Y702*	probably null	Het
Hao2	A	T	3: 98,790,963 (GRCm39)	N70K	probably benign	Het
Herc4	T	A	10: 63,151,565 (GRCm39)	N935K	probably benign	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Kif3b	C	T	2: 153,158,427 (GRCm39)	T76M	probably damaging	Het
Kmo	A	T	1: 175,474,718 (GRCm39)	H134L	probably damaging	Het
Lama3	C	A	18: 12,544,688 (GRCm39)	Q344K	probably null	Het
Man2a2	A	T	7: 80,018,038 (GRCm39)	F211I	possibly damaging	Het
Mmp19	T	C	10: 128,631,471 (GRCm39)	I189T	probably benign	Het
Muc4	G	A	16: 32,575,629 (GRCm39)	G1710S	unknown	Het
Myo15b	G	A	11: 115,749,610 (GRCm39)	G127S		Het
Naca	T	C	10: 127,880,112 (GRCm39)	S1715P	possibly damaging	Het
Ndufs4	T	C	13: 114,425,339 (GRCm39)	N163S	probably damaging	Het
Nim1k	G	A	13: 120,173,986 (GRCm39)	R303*	probably null	Het
Nkx6-3	A	T	8: 23,643,707 (GRCm39)	Y36F	possibly damaging	Het
Osbpl10	C	A	9: 115,005,136 (GRCm39)	Q188K	probably benign	Het
Pak6	G	T	2: 118,520,478 (GRCm39)	R156S	probably benign	Het
Pcf11	T	A	7: 92,307,998 (GRCm39)	K723N	possibly damaging	Het
Pcnx1	A	G	12: 82,009,490 (GRCm39)	Y546C	possibly damaging	Het
Pik3r6	A	G	11: 68,430,783 (GRCm39)	Y528C	probably damaging	Het
Ppp3cb	T	A	14: 20,581,844 (GRCm39)	N57I	probably benign	Het
Preb	A	G	5: 31,116,722 (GRCm39)	L57P	probably damaging	Het
Prkdc	A	G	16: 15,482,232 (GRCm39)	D425G	probably damaging	Het
Rab35	G	A	5: 115,781,467 (GRCm39)	V90I	probably damaging	Het
Rab3gap2	G	C	1: 184,995,017 (GRCm39)	S852T	probably benign	Het
Rcn1	C	T	2: 105,219,464 (GRCm39)	R243Q	probably null	Het
Rom1	A	G	19: 8,906,465 (GRCm39)	S25P	probably damaging	Het
Shank3	C	A	15: 89,387,775 (GRCm39)	Y286*	probably null	Het
Sis	T	A	3: 72,836,742 (GRCm39)	I837L	probably benign	Het
Ski	T	C	4: 155,245,083 (GRCm39)	S388G	possibly damaging	Het
Skint1	T	C	4: 111,867,921 (GRCm39)	F16S	probably benign	Het
Slc22a21	T	G	11: 53,846,904 (GRCm39)	D323A	possibly damaging	Het
Slc40a1	G	A	1: 45,951,467 (GRCm39)	T230I	probably damaging	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
Spata31h1	T	A	10: 82,124,436 (GRCm39)	D2858V	probably benign	Het
Spdl1	G	A	11: 34,704,252 (GRCm39)	T527I	possibly damaging	Het
Sptb	A	T	12: 76,658,815 (GRCm39)	L1240Q	probably benign	Het
Tef	T	A	15: 81,687,037 (GRCm39)	V18D	possibly damaging	Het
Uckl1	T	C	2: 181,216,280 (GRCm39)	D155G	probably damaging	Het
Vmn1r215	A	G	13: 23,260,037 (GRCm39)	I26V	probably benign	Het
Wac	A	G	18: 7,871,606 (GRCm39)	M46V	probably benign	Het
Wbp1	C	T	6: 83,096,866 (GRCm39)	G146D	probably damaging	Het
Zfand2a	A	C	5: 139,459,546 (GRCm39)	S147A	probably benign	Het
Zfhx4	A	T	3: 5,464,534 (GRCm39)	Y1589F	probably benign	Het
Zfp345	G	C	2: 150,314,348 (GRCm39)	D396E	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
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
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
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'- CCCGAAACTTACTCTCAGAAGGTTTG -3'
(R):5'- GCTTCGAGAGGCTTGCTATTAAG -3'

Sequencing Primer
(F):5'- CTCTCAGAAGGTTTGAATTTCTGAAG -3'
(R):5'- TCAGTTTTTCTGAGACAGATTTGC -3'

Posted On

2020-10-20