Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02956:Heatr1'

365108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02956

Quality Score

Status

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12430940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1012 (S1012T)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059270]

AlphaFold

G3X9B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059270
AA Change: S1012T

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: S1012T

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

noncoding transcript
Transcript: ENSMUST00000221746

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	C	T	2: 26,873,049 (GRCm39)	A339V	probably benign	Het
Adck2	T	C	6: 39,553,436 (GRCm39)	V349A	probably benign	Het
Akna	G	T	4: 63,304,516 (GRCm39)	T546K	probably benign	Het
Albfm1	A	G	5: 90,727,497 (GRCm39)	I372V	possibly damaging	Het
Ankrd29	T	C	18: 12,393,993 (GRCm39)	K274E	probably damaging	Het
Apc2	A	T	10: 80,142,209 (GRCm39)	N376I	probably damaging	Het
Cadps	A	G	14: 12,418,047 (GRCm38)		probably benign	Het
Cbl	T	C	9: 44,080,331 (GRCm39)	T243A	probably damaging	Het
Cep15	A	G	14: 12,287,326 (GRCm38)	N29S	probably benign	Het
Cfap52	T	C	11: 67,844,901 (GRCm39)	E56G	probably benign	Het
Chd5	C	A	4: 152,464,413 (GRCm39)	P1561Q	probably benign	Het
Dscam	A	G	16: 96,602,472 (GRCm39)	S657P	probably damaging	Het
Ece1	T	C	4: 137,690,149 (GRCm39)	F732L	probably damaging	Het
Eno2	T	C	6: 124,740,082 (GRCm39)	D199G	probably damaging	Het
Enpp3	A	G	10: 24,650,841 (GRCm39)		probably benign	Het
Fbxl15	G	T	19: 46,317,690 (GRCm39)	C124F	probably damaging	Het
Fermt3	T	C	19: 6,979,712 (GRCm39)	S474G	probably benign	Het
Fkbp6	T	C	5: 135,368,350 (GRCm39)	E252G	probably damaging	Het
Gm6625	A	T	8: 89,873,667 (GRCm39)		noncoding transcript	Het
Gnl1	T	C	17: 36,298,504 (GRCm39)	I416T	probably benign	Het
Gp1bb	C	A	16: 18,439,675 (GRCm39)	A140S	probably benign	Het
Grin2c	A	G	11: 115,148,785 (GRCm39)	V271A	possibly damaging	Het
Ighv5-6	T	A	12: 113,589,523 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,562,429 (GRCm39)	E737G	possibly damaging	Het
Lmod2	A	C	6: 24,603,631 (GRCm39)	N202T	probably damaging	Het
Lrp1	C	T	10: 127,380,428 (GRCm39)	V3908I	probably benign	Het
Lrrtm4	T	C	6: 79,998,633 (GRCm39)	V15A	probably benign	Het
Mup4	A	T	4: 59,959,263 (GRCm39)	D77E	probably benign	Het
Myh7b	A	T	2: 155,474,823 (GRCm39)	E1787V	probably damaging	Het
Myh7b	T	A	2: 155,467,874 (GRCm39)	M804K	possibly damaging	Het
Nup133	T	C	8: 124,675,822 (GRCm39)	S32G	probably benign	Het
Or13c7d	T	A	4: 43,770,399 (GRCm39)	N204I	probably benign	Het
Or52h1	T	C	7: 103,829,334 (GRCm39)	I94V	probably damaging	Het
Or7d10	T	C	9: 19,832,348 (GRCm39)	V281A	possibly damaging	Het
Or8b8	A	G	9: 37,809,404 (GRCm39)	K235E	probably damaging	Het
Polr2m	T	C	9: 71,390,911 (GRCm39)	D97G	possibly damaging	Het
Pou2f3	A	G	9: 43,054,100 (GRCm39)		probably benign	Het
Rex1bd	C	A	8: 70,958,552 (GRCm39)	V72F	possibly damaging	Het
Rgp1	A	G	4: 43,581,505 (GRCm39)	T261A	possibly damaging	Het
Satb2	A	G	1: 56,987,334 (GRCm39)	F84L	probably damaging	Het
Sec14l1	G	A	11: 117,043,973 (GRCm39)	D494N	probably benign	Het
Spn	G	A	7: 126,736,432 (GRCm39)	T25M	probably damaging	Het
Trp73	G	A	4: 154,148,920 (GRCm39)		probably benign	Het
Tsc22d2	A	G	3: 58,324,967 (GRCm39)	T620A	unknown	Het
Zfp276	T	C	8: 123,981,483 (GRCm39)	L10P	probably damaging	Het
Zfp93	T	A	7: 23,974,400 (GRCm39)	N128K	probably benign	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
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
R4533:Heatr1	UTSW	13	12,449,392 (GRCm39)	missense	probably benign	0.05
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

Posted On

2015-12-18