Mutagenetix > Incidental Mutation

Incidental Mutation 'R9358:Heatr1'

708547

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: 0.965) question?

Stock #

R9358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12433087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1146 (T1146S)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: T1146S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: T1146S

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: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,474,976 (GRCm39)	K149*	probably null	Het
Ap3m2	G	A	8: 23,280,959 (GRCm39)	S365F	possibly damaging	Het
Apob	T	A	12: 8,060,833 (GRCm39)	I3105K	probably benign	Het
Arfgef3	A	G	10: 18,492,628 (GRCm39)	L1261P	probably damaging	Het
Armc8	A	G	9: 99,450,653 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Cachd1	G	A	4: 100,833,622 (GRCm39)	V800M	probably damaging	Het
Camta1	A	G	4: 151,222,881 (GRCm39)	L892P	probably damaging	Het
Cfap58	C	T	19: 47,962,987 (GRCm39)	R466*	probably null	Het
Cilp	A	G	9: 65,183,269 (GRCm39)	Q391R	probably benign	Het
Cracd	A	T	5: 77,002,836 (GRCm39)	I137F	probably damaging	Het
Ctcfl	T	A	2: 172,960,581 (GRCm39)	M1L	possibly damaging	Het
Dnah14	G	A	1: 181,536,598 (GRCm39)	A2414T	probably benign	Het
Dnah2	A	G	11: 69,406,592 (GRCm39)	L550P	probably damaging	Het
Erich6b	T	A	14: 75,902,668 (GRCm39)	S162T	probably benign	Het
Fbxw7	C	A	3: 84,883,561 (GRCm39)	H578Q		Het
Fer	T	C	17: 64,280,076 (GRCm39)	L418P	possibly damaging	Het
Fndc3b	A	C	3: 27,505,556 (GRCm39)	L904R	possibly damaging	Het
Gabrg1	A	T	5: 70,935,422 (GRCm39)	I249N	possibly damaging	Het
Gbe1	T	A	16: 70,238,127 (GRCm39)	D304E	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpatch4	G	T	3: 87,962,452 (GRCm39)	E222*	probably null	Het
Hrc	A	C	7: 44,985,984 (GRCm39)	E378D	probably benign	Het
Hspg2	G	T	4: 137,244,909 (GRCm39)	R878L	probably damaging	Het
Igkv1-122	A	G	6: 67,993,756 (GRCm39)	M11V	probably benign	Het
Itih3	T	A	14: 30,643,885 (GRCm39)	K75*	probably null	Het
Jag1	A	G	2: 136,924,948 (GRCm39)	V1218A	probably benign	Het
Kif28	C	T	1: 179,563,695 (GRCm39)	D94N	probably benign	Het
Lama2	G	A	10: 27,064,378 (GRCm39)	T1201M	possibly damaging	Het
Lama2	A	G	10: 27,492,761 (GRCm39)	L11P	unknown	Het
Lrfn2	T	C	17: 49,403,530 (GRCm39)	V551A	probably damaging	Het
Lrrc8d	A	G	5: 105,960,358 (GRCm39)	N256S	probably benign	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mon2	A	G	10: 122,868,452 (GRCm39)	S534P	probably benign	Het
Mrps5	T	A	2: 127,437,734 (GRCm39)	I187N	probably benign	Het
Mto1	A	G	9: 78,364,840 (GRCm39)	M360V	probably benign	Het
Muc16	T	G	9: 18,553,520 (GRCm39)	I4258L	probably benign	Het
Myo10	A	G	15: 25,781,520 (GRCm39)	D1005G	possibly damaging	Het
Myo18b	T	A	5: 112,943,269 (GRCm39)	R1645S	possibly damaging	Het
Naip2	A	T	13: 100,298,080 (GRCm39)	V652D	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Ncapd2	A	T	6: 125,163,106 (GRCm39)	M134K	probably benign	Het
Nup107	A	G	10: 117,586,868 (GRCm39)	F893S	probably damaging	Het
Or10j3	A	T	1: 173,031,741 (GRCm39)	R273W	probably damaging	Het
Or11h23	A	G	14: 50,947,802 (GRCm39)	E5G	probably benign	Het
Or1e35	A	T	11: 73,797,451 (GRCm39)	I289N	probably damaging	Het
Or4f14b	A	G	2: 111,775,429 (GRCm39)	V124A	probably benign	Het
Or5p64	C	T	7: 107,854,799 (GRCm39)	C182Y	probably damaging	Het
Pcgf1	G	T	6: 83,056,433 (GRCm39)	R124L	probably benign	Het
Pdcd10	A	T	3: 75,448,533 (GRCm39)	N10K	probably damaging	Het
Pdx1	C	T	5: 147,207,064 (GRCm39)	Q6*	probably null	Het
Plcl1	T	C	1: 55,735,810 (GRCm39)	S384P	probably damaging	Het
Serpina1b	T	A	12: 103,694,653 (GRCm39)	T364S	possibly damaging	Het
Slc5a11	C	T	7: 122,857,775 (GRCm39)	T288I	probably damaging	Het
Slc6a1	A	T	6: 114,291,271 (GRCm39)	S515C	probably damaging	Het
Snca	A	T	6: 60,710,121 (GRCm39)	D119E	probably benign	Het
Sorcs2	T	C	5: 36,200,814 (GRCm39)	D578G	probably damaging	Het
Sulf1	T	A	1: 12,890,729 (GRCm39)	L389Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,826 (GRCm39)	F783L	possibly damaging	Het
Tln1	A	C	4: 43,532,084 (GRCm39)	I2501S	possibly damaging	Het
Tmem191	A	G	16: 17,094,257 (GRCm39)	E27G	probably damaging	Het
Tmem200a	G	T	10: 25,869,677 (GRCm39)	N197K	probably benign	Het
Tmem207	A	T	16: 26,345,434 (GRCm39)	S11T	probably benign	Het
Ttn	T	C	2: 76,564,953 (GRCm39)	T28425A	probably damaging	Het
Ush2a	C	T	1: 188,607,147 (GRCm39)	T4014M	probably benign	Het
Vac14	G	A	8: 111,439,379 (GRCm39)		probably null	Het
Vmn2r32	A	T	7: 7,477,197 (GRCm39)	I398K	probably damaging	Het
Vmn2r77	A	T	7: 86,452,236 (GRCm39)	H472L	probably benign	Het
Vps45	C	T	3: 95,940,976 (GRCm39)		probably null	Het
Wdr26	T	C	1: 181,019,423 (GRCm39)	H334R	probably damaging	Het
Zfp268	A	T	4: 145,349,613 (GRCm39)	Y350F	possibly damaging	Het
Zmynd10	A	G	9: 107,426,249 (GRCm39)	D132G	possibly damaging	Het
Zpbp2	A	G	11: 98,444,774 (GRCm39)	T123A	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
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
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'- TCAGTGAGAACGGATTCCCA -3'
(R):5'- TGGGTTTTGAACTTCTCTAGTACA -3'

Sequencing Primer
(F):5'- GAACGGATTCCCAAAAGTTCTTCTC -3'
(R):5'- GATCCCAAAGGAACACTGTA -3'

Posted On

2022-04-18