Mutagenetix > Incidental Mutation

Incidental Mutation 'R9530:Heatr1'

719453

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R9530 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12395027-12440289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12424726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1395 (R1395H)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059270
AA Change: R1395H

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

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: R1395H

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 benign
Transcript: ENSMUST00000222091

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,624,741 (GRCm38)	N96S	possibly damaging	Het
4931406P16Rik	A	G	7: 34,263,644 (GRCm38)	V201A	probably benign	Het
Acsl6	C	T	11: 54,329,957 (GRCm38)	T301I	probably damaging	Het
Ankrd7	C	A	6: 18,868,259 (GRCm38)	Q127K	probably benign	Het
Ap1s1	T	C	5: 137,035,758 (GRCm38)	M155V	probably benign	Het
Appbp2	A	C	11: 85,216,480 (GRCm38)	C61W	probably damaging	Het
Ccng1	A	G	11: 40,754,058 (GRCm38)	V4A	probably benign	Het
Cd163	G	T	6: 124,317,532 (GRCm38)	E550*	probably null	Het
Cdh2	A	G	18: 16,650,409 (GRCm38)	Y88H	probably damaging	Het
Cyp2c69	A	G	19: 39,859,867 (GRCm38)	S304P	possibly damaging	Het
Erbb3	T	C	10: 128,574,422 (GRCm38)	I656V	probably benign	Het
Fam214b	C	T	4: 43,034,753 (GRCm38)	R322Q	probably damaging	Het
Fhod3	T	A	18: 25,115,853 (GRCm38)	I1363K	probably damaging	Het
Herc4	T	C	10: 63,290,603 (GRCm38)	I578T	probably benign	Het
Herc6	T	A	6: 57,625,914 (GRCm38)	L526*	probably null	Het
Ighv5-9	A	G	12: 113,662,057 (GRCm38)	M22T	probably benign	Het
Klhl36	A	G	8: 119,865,069 (GRCm38)	E17G	possibly damaging	Het
Mast2	A	C	4: 116,312,338 (GRCm38)	L766R	probably damaging	Het
Megf8	G	A	7: 25,330,699 (GRCm38)	V420M	probably benign	Het
Met	T	C	6: 17,558,832 (GRCm38)	V1153A	probably damaging	Het
Mrpl21	T	A	19: 3,290,998 (GRCm38)	I196N	possibly damaging	Het
Olfr836	G	A	9: 19,121,755 (GRCm38)	V264I	probably benign	Het
Polrmt	C	T	10: 79,738,711 (GRCm38)	A883T	probably benign	Het
Prkcg	G	A	7: 3,327,449 (GRCm38)	D537N	possibly damaging	Het
Rpap3	A	T	15: 97,681,774 (GRCm38)	D452E	probably benign	Het
Slc8a2	A	G	7: 16,145,344 (GRCm38)	D585G	probably null	Het
St18	T	A	1: 6,802,773 (GRCm38)	I244N	probably benign	Het
Stat1	T	A	1: 52,148,001 (GRCm38)		probably null	Het
Stk39	A	G	2: 68,368,411 (GRCm38)	Y288H	probably damaging	Het
Tas2r140	G	A	6: 133,055,531 (GRCm38)	S88F	probably benign	Het
Tbc1d32	T	C	10: 56,196,411 (GRCm38)	E308G	probably damaging	Het
Tcf7l1	T	C	6: 72,627,704 (GRCm38)	T486A	probably benign	Het
Tie1	T	C	4: 118,486,620 (GRCm38)	T42A	possibly damaging	Het
Tnnt2	A	G	1: 135,852,055 (GRCm38)	T297A	possibly damaging	Het
Triobp	G	C	15: 79,002,121 (GRCm38)	G1867R	probably damaging	Het
Vmn1r234	A	G	17: 21,228,842 (GRCm38)	H6R	probably damaging	Het
Vmn2r93	T	A	17: 18,298,300 (GRCm38)	I7N	probably damaging	Het
Vwa8	T	A	14: 78,935,199 (GRCm38)	S294T	probably benign	Het
Wdr60	A	G	12: 116,211,791 (GRCm38)	I922T	possibly damaging	Het
Yjefn3	A	G	8: 69,887,983 (GRCm38)	V197A	probably benign	Het
Zcchc4	CAGAG	CAG	5: 52,796,226 (GRCm38)		probably null	Het
Zfhx3	A	G	8: 108,800,378 (GRCm38)	E969G	probably damaging	Het
Zfp112	G	T	7: 24,125,240 (GRCm38)	C215F	probably benign	Het
Zfp994	A	T	17: 22,201,533 (GRCm38)	L145Q	probably damaging	Het

Other mutations in Heatr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Heatr1	APN	13	12,410,450 (GRCm38)	missense	probably benign	0.00
IGL00863:Heatr1	APN	13	12,435,128 (GRCm38)	missense	probably benign	0.02
IGL00899:Heatr1	APN	13	12,435,176 (GRCm38)	missense	probably benign	0.31
IGL01147:Heatr1	APN	13	12,437,912 (GRCm38)	missense	probably damaging	0.99
IGL01317:Heatr1	APN	13	12,399,027 (GRCm38)	missense	probably damaging	1.00
IGL01323:Heatr1	APN	13	12,398,938 (GRCm38)	missense	possibly damaging	0.86
IGL01625:Heatr1	APN	13	12,413,528 (GRCm38)	missense	probably damaging	0.98
IGL01973:Heatr1	APN	13	12,429,799 (GRCm38)	missense	probably benign
IGL02803:Heatr1	APN	13	12,433,986 (GRCm38)	missense	probably damaging	0.96
IGL02830:Heatr1	APN	13	12,426,212 (GRCm38)	missense	possibly damaging	0.57
IGL02956:Heatr1	APN	13	12,416,059 (GRCm38)	missense	possibly damaging	0.53
IGL03000:Heatr1	APN	13	12,434,411 (GRCm38)	missense	probably damaging	0.99
IGL03024:Heatr1	APN	13	12,407,509 (GRCm38)	unclassified	probably benign
IGL03035:Heatr1	APN	13	12,413,219 (GRCm38)	splice site	probably benign
IGL03301:Heatr1	APN	13	12,434,205 (GRCm38)	missense	probably damaging	1.00
hasan	UTSW	13	12,417,447 (GRCm38)	splice site	probably benign
H8562:Heatr1	UTSW	13	12,408,713 (GRCm38)	missense	probably benign	0.13
R0226:Heatr1	UTSW	13	12,410,562 (GRCm38)	missense	probably damaging	1.00
R0571:Heatr1	UTSW	13	12,430,240 (GRCm38)	missense	probably damaging	0.98
R0722:Heatr1	UTSW	13	12,406,037 (GRCm38)	missense	probably benign	0.14
R1264:Heatr1	UTSW	13	12,424,610 (GRCm38)	unclassified	probably benign
R1371:Heatr1	UTSW	13	12,417,632 (GRCm38)	missense	possibly damaging	0.80
R1388:Heatr1	UTSW	13	12,417,447 (GRCm38)	splice site	probably benign
R1396:Heatr1	UTSW	13	12,406,046 (GRCm38)	missense	possibly damaging	0.86
R1519:Heatr1	UTSW	13	12,412,159 (GRCm38)	missense	probably benign
R1689:Heatr1	UTSW	13	12,424,625 (GRCm38)	missense	probably benign	0.00
R1696:Heatr1	UTSW	13	12,423,721 (GRCm38)	missense	possibly damaging	0.96
R1756:Heatr1	UTSW	13	12,396,460 (GRCm38)	missense	probably benign	0.01
R1859:Heatr1	UTSW	13	12,403,159 (GRCm38)	missense	probably damaging	1.00
R1932:Heatr1	UTSW	13	12,435,185 (GRCm38)	missense	probably damaging	1.00
R1957:Heatr1	UTSW	13	12,396,538 (GRCm38)	missense	probably damaging	1.00
R2018:Heatr1	UTSW	13	12,414,478 (GRCm38)	missense	possibly damaging	0.68
R2106:Heatr1	UTSW	13	12,412,058 (GRCm38)	missense	probably benign	0.03
R2119:Heatr1	UTSW	13	12,432,646 (GRCm38)	missense	probably null	1.00
R2121:Heatr1	UTSW	13	12,403,264 (GRCm38)	missense	probably benign	0.10
R2122:Heatr1	UTSW	13	12,403,264 (GRCm38)	missense	probably benign	0.10
R2367:Heatr1	UTSW	13	12,433,724 (GRCm38)	missense	probably damaging	1.00
R3777:Heatr1	UTSW	13	12,413,348 (GRCm38)	missense	possibly damaging	0.92
R3783:Heatr1	UTSW	13	12,434,460 (GRCm38)	missense	probably damaging	1.00
R3784:Heatr1	UTSW	13	12,434,460 (GRCm38)	missense	probably damaging	1.00
R3786:Heatr1	UTSW	13	12,434,460 (GRCm38)	missense	probably damaging	1.00
R3787:Heatr1	UTSW	13	12,434,460 (GRCm38)	missense	probably damaging	1.00
R3843:Heatr1	UTSW	13	12,435,121 (GRCm38)	missense	probably benign	0.00
R4533:Heatr1	UTSW	13	12,434,511 (GRCm38)	missense	probably benign	0.05
R4725:Heatr1	UTSW	13	12,424,662 (GRCm38)	nonsense	probably null
R4763:Heatr1	UTSW	13	12,430,930 (GRCm38)	missense	possibly damaging	0.65
R4793:Heatr1	UTSW	13	12,431,837 (GRCm38)	missense	probably benign	0.00
R4797:Heatr1	UTSW	13	12,412,048 (GRCm38)	missense	probably benign	0.36
R4798:Heatr1	UTSW	13	12,412,048 (GRCm38)	missense	probably benign	0.36
R4942:Heatr1	UTSW	13	12,413,510 (GRCm38)	critical splice acceptor site	probably null
R4952:Heatr1	UTSW	13	12,410,599 (GRCm38)	missense	probably benign	0.38
R4954:Heatr1	UTSW	13	12,407,516 (GRCm38)	critical splice acceptor site	probably null
R5370:Heatr1	UTSW	13	12,401,522 (GRCm38)	missense	probably benign	0.02
R5464:Heatr1	UTSW	13	12,433,643 (GRCm38)	missense	probably benign	0.00
R5483:Heatr1	UTSW	13	12,398,914 (GRCm38)	missense	probably damaging	1.00
R5497:Heatr1	UTSW	13	12,421,064 (GRCm38)	missense	possibly damaging	0.93
R5504:Heatr1	UTSW	13	12,406,619 (GRCm38)	missense	possibly damaging	0.64
R5527:Heatr1	UTSW	13	12,404,948 (GRCm38)	missense	probably benign
R5527:Heatr1	UTSW	13	12,402,760 (GRCm38)	missense	probably damaging	1.00
R5836:Heatr1	UTSW	13	12,408,736 (GRCm38)	missense	probably damaging	0.99
R5916:Heatr1	UTSW	13	12,434,471 (GRCm38)	missense	probably damaging	1.00
R6018:Heatr1	UTSW	13	12,406,058 (GRCm38)	missense	probably benign	0.26
R6018:Heatr1	UTSW	13	12,404,947 (GRCm38)	missense	probably benign
R6216:Heatr1	UTSW	13	12,432,664 (GRCm38)	missense	probably benign	0.16
R6396:Heatr1	UTSW	13	12,406,097 (GRCm38)	missense	possibly damaging	0.86
R6472:Heatr1	UTSW	13	12,434,230 (GRCm38)	missense	probably benign	0.29
R6922:Heatr1	UTSW	13	12,435,075 (GRCm38)	missense	probably benign	0.00
R7077:Heatr1	UTSW	13	12,418,164 (GRCm38)	missense	possibly damaging	0.63
R7297:Heatr1	UTSW	13	12,421,060 (GRCm38)	nonsense	probably null
R7445:Heatr1	UTSW	13	12,431,038 (GRCm38)	missense	possibly damaging	0.70
R7669:Heatr1	UTSW	13	12,411,262 (GRCm38)	missense	probably benign	0.33
R7672:Heatr1	UTSW	13	12,438,664 (GRCm38)	missense	probably damaging	0.96
R7772:Heatr1	UTSW	13	12,417,641 (GRCm38)	missense	probably benign	0.03
R8205:Heatr1	UTSW	13	12,416,047 (GRCm38)	missense	probably benign
R8518:Heatr1	UTSW	13	12,410,534 (GRCm38)	missense	probably benign
R8754:Heatr1	UTSW	13	12,413,294 (GRCm38)	missense	probably damaging	0.99
R8874:Heatr1	UTSW	13	12,430,912 (GRCm38)	missense	probably damaging	1.00
R8992:Heatr1	UTSW	13	12,401,114 (GRCm38)	missense	probably damaging	0.98
R9045:Heatr1	UTSW	13	12,413,352 (GRCm38)	missense	probably benign	0.00
R9077:Heatr1	UTSW	13	12,413,366 (GRCm38)	missense	probably benign
R9183:Heatr1	UTSW	13	12,421,385 (GRCm38)	missense	probably damaging	0.99
R9186:Heatr1	UTSW	13	12,421,346 (GRCm38)	missense	probably damaging	1.00
R9223:Heatr1	UTSW	13	12,404,921 (GRCm38)	missense	probably benign	0.00
R9242:Heatr1	UTSW	13	12,433,925 (GRCm38)	missense	probably benign
R9267:Heatr1	UTSW	13	12,406,608 (GRCm38)	missense	probably damaging	1.00
R9289:Heatr1	UTSW	13	12,432,727 (GRCm38)	missense	probably benign	0.13
R9310:Heatr1	UTSW	13	12,438,610 (GRCm38)	missense	probably benign
R9312:Heatr1	UTSW	13	12,431,684 (GRCm38)	missense	probably benign
R9358:Heatr1	UTSW	13	12,418,206 (GRCm38)	missense	probably benign	0.09
R9385:Heatr1	UTSW	13	12,406,542 (GRCm38)	missense	probably damaging	1.00
R9532:Heatr1	UTSW	13	12,414,425 (GRCm38)	missense	possibly damaging	0.72
R9647:Heatr1	UTSW	13	12,426,798 (GRCm38)	missense	probably benign	0.00
R9683:Heatr1	UTSW	13	12,434,259 (GRCm38)	missense	probably damaging	1.00
R9695:Heatr1	UTSW	13	12,423,743 (GRCm38)	missense	probably damaging	1.00
RF011:Heatr1	UTSW	13	12,407,544 (GRCm38)	missense	probably benign	0.00
Z1176:Heatr1	UTSW	13	12,399,008 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- ACACACTCACTGAGTTGTCAC -3'
(R):5'- CACTTAAGCTGGCCAGTGTC -3'

Sequencing Primer
(F):5'- TCACTGAGTTGTCACTAAGAGACC -3'
(R):5'- CTTAAGCTGGCCAGTGTCACAAAG -3'

Posted On

2022-07-18