Mutagenetix > Incidental Mutation

Incidental Mutation 'R4533:Heatr1'

333216

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

041773-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R4533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12449392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1963 (D1963E)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059270] [ENSMUST00000099820] [ENSMUST00000099821] [ENSMUST00000124888] [ENSMUST00000135166] [ENSMUST00000143693]

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: D1963E

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: D1963E

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:U3snoRNP10	238	354	7e-30	PFAM
SCOP:d1qbkb_	919	1795	3e-8	SMART
low complexity region	1805	1814	N/A	INTRINSIC
BP28CT	1856	2009	2.25e-77	SMART
Blast:BP28CT	2015	2061	2e-15	BLAST
coiled coil region	2109	2137	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099820

SMART Domains

Protein: ENSMUSP00000097408
Gene: ENSMUSG00000057554

Domain	Start	End	E-Value	Type
GLECT	16	151	3.05e-50	SMART
Gal-bind_lectin	22	150	7.41e-55	SMART
GLECT	184	316	1.38e-48	SMART
Gal-bind_lectin	190	315	1.28e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099821

SMART Domains

Protein: ENSMUSP00000097409
Gene: ENSMUSG00000057554

Domain	Start	End	E-Value	Type
GLECT	16	151	3.05e-50	SMART
Gal-bind_lectin	22	150	7.41e-55	SMART
GLECT	184	316	1.38e-48	SMART
Gal-bind_lectin	190	315	1.28e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124888

SMART Domains

Protein: ENSMUSP00000115094
Gene: ENSMUSG00000057554

Domain	Start	End	E-Value	Type
GLECT	16	151	3.05e-50	SMART
Gal-bind_lectin	22	150	7.41e-55	SMART
GLECT	184	316	1.38e-48	SMART
Gal-bind_lectin	190	315	1.28e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133143

Predicted Effect

probably benign
Transcript: ENSMUST00000135166

SMART Domains

Protein: ENSMUSP00000120210
Gene: ENSMUSG00000057554

Domain	Start	End	E-Value	Type
Pfam:Gal-bind_lectin	1	57	4e-16	PFAM
GLECT	91	223	1.38e-48	SMART
Gal-bind_lectin	97	222	1.28e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143693

SMART Domains

Protein: ENSMUSP00000118925
Gene: ENSMUSG00000057554

Domain	Start	End	E-Value	Type
Pfam:Gal-bind_lectin	1	57	4e-16	PFAM
GLECT	91	223	1.38e-48	SMART
Gal-bind_lectin	97	222	1.28e-49	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000222091
AA Change: D563E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221616

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,062,761 (GRCm39)	Y405C	probably damaging	Het
Ago3	A	T	4: 126,239,356 (GRCm39)	S832T	probably damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Anapc5	T	C	5: 122,929,798 (GRCm39)	E561G	possibly damaging	Het
Art5	T	C	7: 101,747,545 (GRCm39)	H78R	probably benign	Het
Blvra	T	A	2: 126,932,304 (GRCm39)		probably null	Het
Ccdc171	A	G	4: 83,575,579 (GRCm39)	T488A	possibly damaging	Het
Crtc3	A	T	7: 80,239,543 (GRCm39)	M603K	probably damaging	Het
Csmd1	T	C	8: 15,981,037 (GRCm39)		probably null	Het
Dbh	C	A	2: 27,067,343 (GRCm39)	H409Q	possibly damaging	Het
Gm12185	T	C	11: 48,798,747 (GRCm39)	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,798,921 (GRCm39)	N524S	possibly damaging	Het
Gm7356	A	C	17: 14,221,672 (GRCm39)	I119R	probably damaging	Het
Ighv1-37	A	T	12: 114,860,147 (GRCm39)	V21D	probably damaging	Het
Itga3	T	G	11: 94,948,119 (GRCm39)	Q602P	probably benign	Het
Kcmf1	G	A	6: 72,826,574 (GRCm39)	R152C	probably damaging	Het
Lin54	T	C	5: 100,633,262 (GRCm39)	I141V	possibly damaging	Het
Mast1	T	A	8: 85,647,990 (GRCm39)	H497L	probably damaging	Het
Mrpl44	T	C	1: 79,753,971 (GRCm39)	F41S	possibly damaging	Het
Myo18b	T	C	5: 112,840,891 (GRCm39)	R2301G	probably damaging	Het
Nek1	A	T	8: 61,460,247 (GRCm39)	M58L	possibly damaging	Het
Or4k15c	T	C	14: 50,321,156 (GRCm39)		probably null	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
P3h3	A	G	6: 124,831,371 (GRCm39)	V338A	possibly damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcdha7	T	C	18: 37,108,460 (GRCm39)	V495A	possibly damaging	Het
Plcb3	T	C	19: 6,933,640 (GRCm39)	E895G	probably benign	Het
Plekha5	A	G	6: 140,516,057 (GRCm39)	E770G	probably damaging	Het
Ptchd3	C	T	11: 121,727,257 (GRCm39)	S377F	probably damaging	Het
Ptprj	C	T	2: 90,270,299 (GRCm39)	D1266N	probably damaging	Het
Raly	A	T	2: 154,707,853 (GRCm39)	E291V	probably damaging	Het
Rnf217	C	A	10: 31,484,759 (GRCm39)	C141F	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a3	A	G	8: 95,083,714 (GRCm39)	M914V	probably null	Het
Tbc1d9	A	G	8: 83,997,547 (GRCm39)	T1035A	probably damaging	Het
Tex14	C	T	11: 87,427,655 (GRCm39)	R36*	probably null	Het
Tiparp	A	G	3: 65,453,768 (GRCm39)	D172G	probably benign	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Uap1	A	T	1: 169,970,994 (GRCm39)	I466N	probably damaging	Het
Ubr1	T	C	2: 120,772,963 (GRCm39)	T426A	possibly damaging	Het
Vmn1r77	T	A	7: 11,775,756 (GRCm39)	H177Q	probably benign	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Vwc2l	G	A	1: 70,921,298 (GRCm39)	C151Y	probably damaging	Het
Wdr12	T	C	1: 60,117,354 (GRCm39)	Y414C	probably benign	Het
Zfp609	A	C	9: 65,610,890 (GRCm39)	V691G	probably benign	Het
Zmiz1	T	C	14: 25,646,084 (GRCm39)	Y254H	probably damaging	Het

Other mutations in Heatr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Heatr1	APN	13	12,425,331 (GRCm39)	missense	probably benign	0.00
IGL00863:Heatr1	APN	13	12,450,009 (GRCm39)	missense	probably benign	0.02
IGL00899:Heatr1	APN	13	12,450,057 (GRCm39)	missense	probably benign	0.31
IGL01147:Heatr1	APN	13	12,452,793 (GRCm39)	missense	probably damaging	0.99
IGL01317:Heatr1	APN	13	12,413,908 (GRCm39)	missense	probably damaging	1.00
IGL01323:Heatr1	APN	13	12,413,819 (GRCm39)	missense	possibly damaging	0.86
IGL01625:Heatr1	APN	13	12,428,409 (GRCm39)	missense	probably damaging	0.98
IGL01973:Heatr1	APN	13	12,444,680 (GRCm39)	missense	probably benign
IGL02803:Heatr1	APN	13	12,448,867 (GRCm39)	missense	probably damaging	0.96
IGL02830:Heatr1	APN	13	12,441,093 (GRCm39)	missense	possibly damaging	0.57
IGL02956:Heatr1	APN	13	12,430,940 (GRCm39)	missense	possibly damaging	0.53
IGL03000:Heatr1	APN	13	12,449,292 (GRCm39)	missense	probably damaging	0.99
IGL03024:Heatr1	APN	13	12,422,390 (GRCm39)	unclassified	probably benign
IGL03035:Heatr1	APN	13	12,428,100 (GRCm39)	splice site	probably benign
IGL03301:Heatr1	APN	13	12,449,086 (GRCm39)	missense	probably damaging	1.00
hasan	UTSW	13	12,432,328 (GRCm39)	splice site	probably benign
H8562:Heatr1	UTSW	13	12,423,594 (GRCm39)	missense	probably benign	0.13
R0226:Heatr1	UTSW	13	12,425,443 (GRCm39)	missense	probably damaging	1.00
R0571:Heatr1	UTSW	13	12,445,121 (GRCm39)	missense	probably damaging	0.98
R0722:Heatr1	UTSW	13	12,420,918 (GRCm39)	missense	probably benign	0.14
R1264:Heatr1	UTSW	13	12,439,491 (GRCm39)	unclassified	probably benign
R1371:Heatr1	UTSW	13	12,432,513 (GRCm39)	missense	possibly damaging	0.80
R1388:Heatr1	UTSW	13	12,432,328 (GRCm39)	splice site	probably benign
R1396:Heatr1	UTSW	13	12,420,927 (GRCm39)	missense	possibly damaging	0.86
R1519:Heatr1	UTSW	13	12,427,040 (GRCm39)	missense	probably benign
R1689:Heatr1	UTSW	13	12,439,506 (GRCm39)	missense	probably benign	0.00
R1696:Heatr1	UTSW	13	12,438,602 (GRCm39)	missense	possibly damaging	0.96
R1756:Heatr1	UTSW	13	12,411,341 (GRCm39)	missense	probably benign	0.01
R1859:Heatr1	UTSW	13	12,418,040 (GRCm39)	missense	probably damaging	1.00
R1932:Heatr1	UTSW	13	12,450,066 (GRCm39)	missense	probably damaging	1.00
R1957:Heatr1	UTSW	13	12,411,419 (GRCm39)	missense	probably damaging	1.00
R2018:Heatr1	UTSW	13	12,429,359 (GRCm39)	missense	possibly damaging	0.68
R2106:Heatr1	UTSW	13	12,426,939 (GRCm39)	missense	probably benign	0.03
R2119:Heatr1	UTSW	13	12,447,527 (GRCm39)	missense	probably null	1.00
R2121:Heatr1	UTSW	13	12,418,145 (GRCm39)	missense	probably benign	0.10
R2122:Heatr1	UTSW	13	12,418,145 (GRCm39)	missense	probably benign	0.10
R2367:Heatr1	UTSW	13	12,448,605 (GRCm39)	missense	probably damaging	1.00
R3777:Heatr1	UTSW	13	12,428,229 (GRCm39)	missense	possibly damaging	0.92
R3783:Heatr1	UTSW	13	12,449,341 (GRCm39)	missense	probably damaging	1.00
R3784:Heatr1	UTSW	13	12,449,341 (GRCm39)	missense	probably damaging	1.00
R3786:Heatr1	UTSW	13	12,449,341 (GRCm39)	missense	probably damaging	1.00
R3787:Heatr1	UTSW	13	12,449,341 (GRCm39)	missense	probably damaging	1.00
R3843:Heatr1	UTSW	13	12,450,002 (GRCm39)	missense	probably benign	0.00
R4725:Heatr1	UTSW	13	12,439,543 (GRCm39)	nonsense	probably null
R4763:Heatr1	UTSW	13	12,445,811 (GRCm39)	missense	possibly damaging	0.65
R4793:Heatr1	UTSW	13	12,446,718 (GRCm39)	missense	probably benign	0.00
R4797:Heatr1	UTSW	13	12,426,929 (GRCm39)	missense	probably benign	0.36
R4798:Heatr1	UTSW	13	12,426,929 (GRCm39)	missense	probably benign	0.36
R4942:Heatr1	UTSW	13	12,428,391 (GRCm39)	critical splice acceptor site	probably null
R4952:Heatr1	UTSW	13	12,425,480 (GRCm39)	missense	probably benign	0.38
R4954:Heatr1	UTSW	13	12,422,397 (GRCm39)	critical splice acceptor site	probably null
R5370:Heatr1	UTSW	13	12,416,403 (GRCm39)	missense	probably benign	0.02
R5464:Heatr1	UTSW	13	12,448,524 (GRCm39)	missense	probably benign	0.00
R5483:Heatr1	UTSW	13	12,413,795 (GRCm39)	missense	probably damaging	1.00
R5497:Heatr1	UTSW	13	12,435,945 (GRCm39)	missense	possibly damaging	0.93
R5504:Heatr1	UTSW	13	12,421,500 (GRCm39)	missense	possibly damaging	0.64
R5527:Heatr1	UTSW	13	12,419,829 (GRCm39)	missense	probably benign
R5527:Heatr1	UTSW	13	12,417,641 (GRCm39)	missense	probably damaging	1.00
R5836:Heatr1	UTSW	13	12,423,617 (GRCm39)	missense	probably damaging	0.99
R5916:Heatr1	UTSW	13	12,449,352 (GRCm39)	missense	probably damaging	1.00
R6018:Heatr1	UTSW	13	12,420,939 (GRCm39)	missense	probably benign	0.26
R6018:Heatr1	UTSW	13	12,419,828 (GRCm39)	missense	probably benign
R6216:Heatr1	UTSW	13	12,447,545 (GRCm39)	missense	probably benign	0.16
R6396:Heatr1	UTSW	13	12,420,978 (GRCm39)	missense	possibly damaging	0.86
R6472:Heatr1	UTSW	13	12,449,111 (GRCm39)	missense	probably benign	0.29
R6922:Heatr1	UTSW	13	12,449,956 (GRCm39)	missense	probably benign	0.00
R7077:Heatr1	UTSW	13	12,433,045 (GRCm39)	missense	possibly damaging	0.63
R7297:Heatr1	UTSW	13	12,435,941 (GRCm39)	nonsense	probably null
R7445:Heatr1	UTSW	13	12,445,919 (GRCm39)	missense	possibly damaging	0.70
R7669:Heatr1	UTSW	13	12,426,143 (GRCm39)	missense	probably benign	0.33
R7672:Heatr1	UTSW	13	12,453,545 (GRCm39)	missense	probably damaging	0.96
R7772:Heatr1	UTSW	13	12,432,522 (GRCm39)	missense	probably benign	0.03
R8205:Heatr1	UTSW	13	12,430,928 (GRCm39)	missense	probably benign
R8518:Heatr1	UTSW	13	12,425,415 (GRCm39)	missense	probably benign
R8754:Heatr1	UTSW	13	12,428,175 (GRCm39)	missense	probably damaging	0.99
R8874:Heatr1	UTSW	13	12,445,793 (GRCm39)	missense	probably damaging	1.00
R8992:Heatr1	UTSW	13	12,415,995 (GRCm39)	missense	probably damaging	0.98
R9045:Heatr1	UTSW	13	12,428,233 (GRCm39)	missense	probably benign	0.00
R9077:Heatr1	UTSW	13	12,428,247 (GRCm39)	missense	probably benign
R9183:Heatr1	UTSW	13	12,436,266 (GRCm39)	missense	probably damaging	0.99
R9186:Heatr1	UTSW	13	12,436,227 (GRCm39)	missense	probably damaging	1.00
R9223:Heatr1	UTSW	13	12,419,802 (GRCm39)	missense	probably benign	0.00
R9242:Heatr1	UTSW	13	12,448,806 (GRCm39)	missense	probably benign
R9267:Heatr1	UTSW	13	12,421,489 (GRCm39)	missense	probably damaging	1.00
R9289:Heatr1	UTSW	13	12,447,608 (GRCm39)	missense	probably benign	0.13
R9310:Heatr1	UTSW	13	12,453,491 (GRCm39)	missense	probably benign
R9312:Heatr1	UTSW	13	12,446,565 (GRCm39)	missense	probably benign
R9358:Heatr1	UTSW	13	12,433,087 (GRCm39)	missense	probably benign	0.09
R9385:Heatr1	UTSW	13	12,421,423 (GRCm39)	missense	probably damaging	1.00
R9530:Heatr1	UTSW	13	12,439,607 (GRCm39)	missense	probably damaging	1.00
R9532:Heatr1	UTSW	13	12,429,306 (GRCm39)	missense	possibly damaging	0.72
R9647:Heatr1	UTSW	13	12,441,679 (GRCm39)	missense	probably benign	0.00
R9683:Heatr1	UTSW	13	12,449,140 (GRCm39)	missense	probably damaging	1.00
R9695:Heatr1	UTSW	13	12,438,624 (GRCm39)	missense	probably damaging	1.00
RF011:Heatr1	UTSW	13	12,422,425 (GRCm39)	missense	probably benign	0.00
Z1176:Heatr1	UTSW	13	12,413,889 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CAGGGTGAGTAGATGATGTCAC -3'
(R):5'- TGAGTAATAATGCCCACTTTACCC -3'

Sequencing Primer
(F):5'- GAGTAGATGATGTCACTGTTCTCTCC -3'
(R):5'- AATAATGCCCACTTTACCCTTTCTC -3'

Posted On

2015-08-18