Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01317:Heatr1'

73897

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 #

IGL01317

Quality Score

Status

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12413908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 162 (W162R)

Ref Sequence

ENSEMBL: ENSMUSP00000152410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059270] [ENSMUST00000221046] [ENSMUST00000223324]

AlphaFold

G3X9B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059270
AA Change: W162R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: W162R

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 damaging
Transcript: ENSMUST00000221046
AA Change: W162R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222817

Predicted Effect

probably benign
Transcript: ENSMUST00000223324

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,362,597 (GRCm39)	D609E	probably damaging	Het
Aldh3b1	T	C	19: 3,968,104 (GRCm39)	I352V	probably benign	Het
Apeh	A	T	9: 107,963,406 (GRCm39)	S605R	probably benign	Het
Arhgap32	A	G	9: 32,168,260 (GRCm39)	K748E	probably benign	Het
Avpr1a	T	C	10: 122,285,472 (GRCm39)	S255P	probably benign	Het
Cadps2	T	A	6: 23,314,172 (GRCm39)	D1124V	possibly damaging	Het
Cask	C	T	X: 13,388,499 (GRCm39)	E83K	probably damaging	Het
Cep170b	A	G	12: 112,704,078 (GRCm39)	Y670C	probably damaging	Het
Chd3	A	G	11: 69,244,037 (GRCm39)	Y1343H	probably damaging	Het
Cit	T	A	5: 116,046,775 (GRCm39)	V396D	probably benign	Het
Cldn18	T	C	9: 99,578,135 (GRCm39)	T203A	probably benign	Het
Dido1	A	C	2: 180,313,550 (GRCm39)	N907K	probably benign	Het
Dmbt1	T	A	7: 130,642,921 (GRCm39)	D246E	probably damaging	Het
Dph1	T	C	11: 75,071,486 (GRCm39)	H303R	probably benign	Het
Dspp	T	A	5: 104,321,914 (GRCm39)	Y8N	probably damaging	Het
Efhc2	C	T	X: 17,071,198 (GRCm39)		probably benign	Het
Fam171a1	T	A	2: 3,203,663 (GRCm39)	V215E	probably damaging	Het
Fhip1a	T	C	3: 85,580,153 (GRCm39)	D684G	probably benign	Het
Foxm1	T	A	6: 128,344,316 (GRCm39)	M22K	probably damaging	Het
Gdpd4	A	C	7: 97,647,465 (GRCm39)	M371L	possibly damaging	Het
Hdac9	T	C	12: 34,479,488 (GRCm39)		probably benign	Het
Hydin	A	T	8: 111,053,078 (GRCm39)	D250V	probably damaging	Het
Itga4	T	A	2: 79,153,005 (GRCm39)	C897*	probably null	Het
Itprid1	G	T	6: 55,944,790 (GRCm39)	A504S	possibly damaging	Het
Kcnd2	T	C	6: 21,727,339 (GRCm39)	*631Q	probably null	Het
Kcnn2	A	G	18: 45,693,694 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,125,696 (GRCm39)	E2951V	probably damaging	Het
Lyst	A	G	13: 13,845,455 (GRCm39)	Q1944R	probably benign	Het
Mmp14	A	G	14: 54,673,247 (GRCm39)	T52A	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,372 (GRCm39)	N102K	probably benign	Het
Mrpl28	G	A	17: 26,344,489 (GRCm39)	G205D	probably damaging	Het
Mtmr4	T	C	11: 87,493,230 (GRCm39)		probably benign	Het
Oog2	A	G	4: 143,921,837 (GRCm39)	N249S	probably benign	Het
Or4f57	T	A	2: 111,790,620 (GRCm39)	H266L	possibly damaging	Het
Ppp6r2	T	A	15: 89,170,131 (GRCm39)	V882E	possibly damaging	Het
Qser1	A	C	2: 104,617,324 (GRCm39)	Y1073D	probably damaging	Het
Rbl2	C	A	8: 91,826,685 (GRCm39)	D480E	probably damaging	Het
Rfx7	G	A	9: 72,525,818 (GRCm39)	G1003S	probably damaging	Het
Rrh	A	C	3: 129,616,074 (GRCm39)	F20V	possibly damaging	Het
Rwdd3	A	G	3: 120,965,282 (GRCm39)	I15T	possibly damaging	Het
Sestd1	A	T	2: 77,022,889 (GRCm39)	M493K	possibly damaging	Het
Slc17a8	T	A	10: 89,456,666 (GRCm39)	L32F	probably benign	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Tbc1d10a	A	T	11: 4,162,826 (GRCm39)	Y223F	probably benign	Het
Tbx20	A	G	9: 24,681,051 (GRCm39)	V147A	probably damaging	Het
Tmem63c	A	T	12: 87,118,770 (GRCm39)		probably benign	Het
Tmtc2	C	A	10: 105,249,646 (GRCm39)	R29L	probably damaging	Het
Ttc21b	T	A	2: 66,018,700 (GRCm39)	M1236L	probably benign	Het
Unc119	T	A	11: 78,238,052 (GRCm39)	C12S	probably damaging	Het
Vcan	A	G	13: 89,839,787 (GRCm39)	M1919T	probably benign	Het
Zmat4	C	A	8: 24,392,185 (GRCm39)	T47K	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
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
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

2013-10-07