Mutagenetix > Incidental Mutation

Incidental Mutation 'R8205:Heatr1'

635881

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

067628-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R8205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12430928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1008 (Y1008H)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: Y1008H

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

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: Y1008H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,080 (GRCm39)	V157A	probably benign	Het
Adamtsl1	A	G	4: 86,117,650 (GRCm39)	*204W	probably null	Het
Add2	A	G	6: 86,063,899 (GRCm39)	E66G	probably damaging	Het
Adgrd1	A	G	5: 129,192,175 (GRCm39)	T114A	possibly damaging	Het
Aldh7a1	A	T	18: 56,678,070 (GRCm39)	I247N	probably damaging	Het
Ankrd13d	A	T	19: 4,331,009 (GRCm39)	M166K	probably damaging	Het
Brd7	A	G	8: 89,070,243 (GRCm39)	F388L	probably damaging	Het
Cap2	G	A	13: 46,768,739 (GRCm39)	V182M	probably damaging	Het
Col22a1	A	T	15: 71,732,918 (GRCm39)	V1100E	unknown	Het
Cracdl	T	C	1: 37,664,047 (GRCm39)	D617G	probably benign	Het
Crisp2	T	C	17: 41,095,969 (GRCm39)	E63G	possibly damaging	Het
Dst	T	G	1: 34,253,685 (GRCm39)	W2304G	probably damaging	Het
Eif2a	A	C	3: 58,456,156 (GRCm39)	N385T	probably damaging	Het
Eif4ebp2	A	T	10: 61,270,704 (GRCm39)	H108Q	probably benign	Het
Fgd3	T	C	13: 49,449,823 (GRCm39)	D142G	probably benign	Het
Gbp8	T	A	5: 105,198,846 (GRCm39)	H23L	probably benign	Het
Glt1d1	A	G	5: 127,768,080 (GRCm39)	E229G	probably benign	Het
Gpatch8	T	C	11: 102,371,213 (GRCm39)	D775G	unknown	Het
Heatr5a	T	A	12: 52,005,792 (GRCm39)	N61I	probably benign	Het
Hydin	A	T	8: 111,319,270 (GRCm39)	H4391L	possibly damaging	Het
Ifi206	T	C	1: 173,309,450 (GRCm39)	E182G		Het
Mbtps1	A	G	8: 120,247,077 (GRCm39)	S789P	probably damaging	Het
Mex3a	T	C	3: 88,444,159 (GRCm39)	S412P	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,542 (GRCm39)	V318I	possibly damaging	Het
Mup2	T	A	4: 60,137,659 (GRCm39)	D128V	probably benign	Het
Ndufaf7	G	A	17: 79,254,461 (GRCm39)	C418Y	probably benign	Het
Nlrp4a	A	G	7: 26,150,219 (GRCm39)	S609G	probably benign	Het
Obscn	T	A	11: 58,898,697 (GRCm39)	Y6554F	unknown	Het
Odf2l	A	G	3: 144,856,495 (GRCm39)		probably benign	Het
Or14j2	A	T	17: 37,885,892 (GRCm39)	C141S	probably damaging	Het
Or1o11	T	C	17: 37,757,180 (GRCm39)	V245A	probably damaging	Het
Or4c104	A	T	2: 88,587,016 (GRCm39)	M1K	probably null	Het
Plod2	G	T	9: 92,424,371 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,541,418 (GRCm39)	V30A	probably benign	Het
Pxdn	T	G	12: 30,056,566 (GRCm39)	L1259R	probably damaging	Het
Rnf6	A	G	5: 146,147,714 (GRCm39)	S435P	probably damaging	Het
Sacm1l	G	A	9: 123,415,724 (GRCm39)		probably null	Het
Scgb2b26	T	C	7: 33,643,833 (GRCm39)	T36A	probably benign	Het
Slc1a7	A	G	4: 107,865,508 (GRCm39)	N332S	probably benign	Het
Slfn5	T	C	11: 82,851,544 (GRCm39)	F614L	probably benign	Het
Smad7	C	A	18: 75,527,119 (GRCm39)	Q322K	probably damaging	Het
Smap1	T	C	1: 23,888,507 (GRCm39)	T253A	probably benign	Het
Socs5	G	T	17: 87,441,138 (GRCm39)	R26L	probably benign	Het
Steap4	A	T	5: 8,026,795 (GRCm39)	I253F	possibly damaging	Het
Tacc1	G	A	8: 25,672,803 (GRCm39)	H142Y	probably benign	Het
Tent5c	A	G	3: 100,380,138 (GRCm39)	F206S	probably benign	Het
Tmem117	G	A	15: 94,992,679 (GRCm39)	M446I	probably benign	Het
Trav7-6	G	A	14: 53,954,550 (GRCm39)	D47N	probably benign	Het
Trim2	C	A	3: 84,100,646 (GRCm39)	A162S	probably damaging	Het
Ttc28	A	G	5: 111,373,596 (GRCm39)	I1011V	possibly damaging	Het
Vmn2r98	T	C	17: 19,301,425 (GRCm39)	V809A	probably damaging	Het
Wfikkn1	T	A	17: 26,097,071 (GRCm39)	T418S	probably benign	Het
Zbtb41	T	A	1: 139,356,919 (GRCm39)	D391E	possibly damaging	Het
Zfp109	G	A	7: 23,928,635 (GRCm39)	S266F	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
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
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'- TTCAAAGTGAGCTAGCTTTTGG -3'
(R):5'- TCGTGAAGAACATCATCCCC -3'

Sequencing Primer
(F):5'- CAAAGTGAGCTAGCTTTTGGATACTG -3'
(R):5'- GTGAAGAACATCATCCCCCTGGG -3'

Posted On

2020-07-13