Mutagenetix > Incidental Mutation

Incidental Mutation 'R9242:Heatr1'

701060

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

068988-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12448806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1840 (M1840I)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: M1840I

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

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: M1840I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	C	A	5: 8,949,677 (GRCm39)	T79K	probably damaging	Het
Ackr3	G	T	1: 90,142,558 (GRCm39)	G339V	probably damaging	Het
Agpat4	G	T	17: 12,429,186 (GRCm39)	R146L	probably damaging	Het
Ampd1	C	T	3: 102,998,936 (GRCm39)	R364C	probably damaging	Het
Atrnl1	A	G	19: 57,645,660 (GRCm39)	T507A	probably benign	Het
Cand2	C	G	6: 115,768,923 (GRCm39)	R578G	probably benign	Het
Capg	C	T	6: 72,532,869 (GRCm39)	P111L	probably damaging	Het
Carm1	C	T	9: 21,494,350 (GRCm39)	T289I	probably damaging	Het
Ccr6	A	G	17: 8,474,965 (GRCm39)	I57V	probably benign	Het
Cdk5rap2	T	C	4: 70,255,583 (GRCm39)	I434V	possibly damaging	Het
Chrdl2	C	T	7: 99,655,743 (GRCm39)		probably benign	Het
Cntnap5a	A	G	1: 116,220,109 (GRCm39)	T640A	probably benign	Het
Ctsd	T	C	7: 141,937,280 (GRCm39)		probably null	Het
D17H6S53E	G	T	17: 35,346,536 (GRCm39)	R149L	possibly damaging	Het
Dync1i1	A	G	6: 5,769,706 (GRCm39)	T77A	probably benign	Het
Emc2	T	C	15: 43,358,639 (GRCm39)	M100T	probably benign	Het
Esrra	A	G	19: 6,889,863 (GRCm39)	V290A	probably benign	Het
Fbl	T	C	7: 27,876,620 (GRCm39)	I207T	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gcc1	T	A	6: 28,420,375 (GRCm39)	N314I	possibly damaging	Het
Gzmm	A	T	10: 79,530,354 (GRCm39)	D175V	probably damaging	Het
Helz	T	C	11: 107,523,153 (GRCm39)	L779P	probably damaging	Het
Impg1	T	A	9: 80,289,064 (GRCm39)	N331I	probably damaging	Het
Inmt	C	T	6: 55,150,270 (GRCm39)		probably null	Het
Inpp5a	C	T	7: 139,061,634 (GRCm39)	T102M	probably damaging	Het
Lamc3	A	G	2: 31,788,323 (GRCm39)	Y161C	probably benign	Het
Lpin2	A	G	17: 71,553,966 (GRCm39)	*932W	probably null	Het
Lrp3	C	T	7: 34,901,934 (GRCm39)	R649H	probably benign	Het
Madd	G	A	2: 90,973,949 (GRCm39)	T1464I	probably damaging	Het
Nceh1	C	A	3: 27,293,777 (GRCm39)	Y178*	probably null	Het
Or5ae2	A	T	7: 84,506,086 (GRCm39)	K172*	probably null	Het
Or5b96	T	A	19: 12,867,989 (GRCm39)		probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptchd4	A	T	17: 42,627,604 (GRCm39)	R22*	probably null	Het
Ptpru	C	T	4: 131,530,341 (GRCm39)	G560S	probably damaging	Het
Ralgapb	G	T	2: 158,277,386 (GRCm39)	R250L	probably benign	Het
Rcor1	T	A	12: 111,076,228 (GRCm39)	Y395*	probably null	Het
Slc35f6	G	T	5: 30,805,410 (GRCm39)		probably benign	Het
Slc40a1	A	G	1: 45,950,129 (GRCm39)	V441A	probably benign	Het
Slc6a13	T	A	6: 121,295,228 (GRCm39)	F77Y	probably damaging	Het
Slc6a15	T	A	10: 103,229,406 (GRCm39)	C148*	probably null	Het
Sox10	T	C	15: 79,040,640 (GRCm39)	Y300C	probably damaging	Het
Tomm70a	T	A	16: 56,958,383 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,537 (GRCm39)	V122A	probably benign	Het
Tpi1	T	C	6: 124,791,138 (GRCm39)	Q33R	probably benign	Het
Unk	T	C	11: 115,940,184 (GRCm39)	V179A	probably benign	Het
Ush2a	G	T	1: 188,365,787 (GRCm39)	G2214C	probably damaging	Het
Vmn1r159	T	A	7: 22,542,912 (GRCm39)	Y40F	probably benign	Het
Wbp2nl	T	C	15: 82,192,748 (GRCm39)	V144A	probably benign	Het
Wdpcp	A	G	11: 21,835,040 (GRCm39)	E681G	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
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
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'- TAACATTCGCCTGACAGCTC -3'
(R):5'- AATGACAGCTTCAGGGCCTG -3'

Sequencing Primer
(F):5'- GAGTCCTACTGCCAGCCATTAG -3'
(R):5'- CTTCAGGGCCTGGGGAGTG -3'

Posted On

2022-03-25