Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03000:Heatr1'

407259

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: 0.965) question?

Stock #

IGL03000

Quality Score

Status

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12449292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1930 (D1930G)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059270
AA Change: D1930G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: D1930G

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: ENSMUST00000221051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221616

Predicted Effect

unknown
Transcript: ENSMUST00000222091
AA Change: D530G

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,360,959 (GRCm39)	S445G	probably benign	Het
Abca5	C	T	11: 110,208,640 (GRCm39)	V226I	probably benign	Het
Ankrd34c	A	T	9: 89,611,239 (GRCm39)	D367E	probably benign	Het
Bmp6	G	T	13: 38,682,887 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,401,397 (GRCm39)		probably null	Het
Cblb	T	G	16: 52,024,905 (GRCm39)	D933E	probably damaging	Het
Ccny	A	G	18: 9,353,489 (GRCm39)	S95P	probably benign	Het
Cep192	A	G	18: 67,985,115 (GRCm39)	I1658V	probably damaging	Het
Cntn6	A	T	6: 104,781,347 (GRCm39)	T478S	probably damaging	Het
Cpne7	T	C	8: 123,853,435 (GRCm39)	F247L	probably benign	Het
Csf1r	A	G	18: 61,242,724 (GRCm39)	E29G	probably damaging	Het
Dctn3	T	A	4: 41,719,912 (GRCm39)	I65F	possibly damaging	Het
Dock1	A	G	7: 134,390,969 (GRCm39)	E743G	probably benign	Het
Dus2	C	A	8: 106,775,316 (GRCm39)	T281N	probably damaging	Het
Gbx1	G	T	5: 24,709,924 (GRCm39)	T307K	probably benign	Het
Gtf2ird2	A	T	5: 134,223,745 (GRCm39)	N93I	probably benign	Het
Hif3a	T	C	7: 16,782,564 (GRCm39)	I334V	probably benign	Het
Ints1	G	T	5: 139,752,261 (GRCm39)	N756K	probably benign	Het
Kcnn2	T	C	18: 45,693,635 (GRCm39)	F404L	probably damaging	Het
Kmt2c	G	A	5: 25,489,170 (GRCm39)	R4590W	probably damaging	Het
Limk1	A	T	5: 134,699,355 (GRCm39)	V134E	probably damaging	Het
Mep1a	A	G	17: 43,785,881 (GRCm39)	V736A	probably benign	Het
Mex3a	T	A	3: 88,443,602 (GRCm39)	I226N	probably damaging	Het
Mgl2	A	T	11: 70,025,026 (GRCm39)	K16*	probably null	Het
Mms22l	G	T	4: 24,581,161 (GRCm39)	V864L	probably damaging	Het
Mroh4	T	A	15: 74,487,963 (GRCm39)	M320L	probably benign	Het
Mylk3	G	A	8: 86,085,806 (GRCm39)	P243S	probably damaging	Het
Nbea	A	C	3: 55,912,048 (GRCm39)	D1246E	possibly damaging	Het
Ndnf	A	G	6: 65,680,299 (GRCm39)	T193A	possibly damaging	Het
Nfasc	T	C	1: 132,549,247 (GRCm39)		probably benign	Het
Or6k8-ps1	A	G	1: 173,979,126 (GRCm39)	T15A	probably benign	Het
Ptprq	A	T	10: 107,378,518 (GRCm39)	F2008I	probably damaging	Het
Rhag	A	G	17: 41,139,413 (GRCm39)	K116R	probably benign	Het
Rictor	T	A	15: 6,798,721 (GRCm39)		probably benign	Het
Slc35f5	C	A	1: 125,502,479 (GRCm39)	T277N	probably damaging	Het
Sorcs2	A	G	5: 36,222,675 (GRCm39)		probably benign	Het
Ssh2	T	A	11: 77,312,032 (GRCm39)		probably benign	Het
Togaram2	T	C	17: 72,024,365 (GRCm39)	S830P	probably benign	Het
Trim30d	T	C	7: 104,122,476 (GRCm39)	T112A	probably benign	Het
Ttc34	T	C	4: 154,949,888 (GRCm39)	V947A	probably damaging	Het
Ttn	A	G	2: 76,642,953 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 38,025,096 (GRCm39)	V560D	probably damaging	Het
Ush2a	A	T	1: 188,282,053 (GRCm39)	E1856V	possibly damaging	Het
Zfp142	T	C	1: 74,612,777 (GRCm39)	M457V	probably benign	Het
Zfp711	C	T	X: 111,534,555 (GRCm39)	Q137*	probably null	Het
Zkscan17	T	C	11: 59,377,986 (GRCm39)	Y399C	probably damaging	Het
Zswim6	T	G	13: 107,863,649 (GRCm39)		noncoding transcript	Het
Zswim6	T	A	13: 107,863,650 (GRCm39)		noncoding transcript	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
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

2016-08-02