Mutagenetix > Incidental Mutation

Incidental Mutation 'R5527:Heatr1'

431943

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

043085-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12419829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 384 (I384T)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: I384T

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

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: I384T

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: ENSMUST00000221046

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,278,842 (GRCm39)	Y1051N	probably benign	Het
Bach1	T	C	16: 87,516,433 (GRCm39)	S325P	probably benign	Het
Baz2a	T	C	10: 127,960,786 (GRCm39)	S1529P	probably damaging	Het
Bicd1	T	C	6: 149,396,134 (GRCm39)	L168P	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,730,401 (GRCm39)	M426T	probably benign	Het
Cdk7	C	T	13: 100,866,980 (GRCm39)	V38I	probably damaging	Het
Cenpj	T	C	14: 56,764,440 (GRCm39)	Y1324C	probably damaging	Het
Cplane2	C	A	4: 140,947,303 (GRCm39)	A228D	probably damaging	Het
Ddx47	C	A	6: 134,988,657 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,328,014 (GRCm39)	Q3370*	probably null	Het
Dnah6	C	T	6: 73,136,212 (GRCm39)	V976I	probably benign	Het
Dock7	C	T	4: 98,842,105 (GRCm39)		probably benign	Het
Dpy19l3	A	T	7: 35,413,555 (GRCm39)	I362N	possibly damaging	Het
Fam118a	A	T	15: 84,942,999 (GRCm39)	T343S	probably benign	Het
Fcgbp	T	A	7: 27,793,060 (GRCm39)	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,883,746 (GRCm39)	Y83C	probably damaging	Het
Flt4	T	C	11: 49,525,581 (GRCm39)	I709T	probably damaging	Het
Gga3	G	T	11: 115,478,262 (GRCm39)	A510D	probably damaging	Het
Hes2	T	C	4: 152,244,849 (GRCm39)	V106A	probably benign	Het
Igf1r	T	A	7: 67,857,569 (GRCm39)	M1083K	probably damaging	Het
Il7r	A	T	15: 9,513,010 (GRCm39)	D166E	probably benign	Het
Ipo4	G	A	14: 55,869,507 (GRCm39)		probably null	Het
Klk1b26	T	C	7: 43,662,187 (GRCm39)	I15T	probably benign	Het
Krt42	T	C	11: 100,154,121 (GRCm39)		probably benign	Het
Lag3	T	C	6: 124,885,592 (GRCm39)	T263A	probably damaging	Het
Lilra6	T	A	7: 3,917,586 (GRCm39)		probably benign	Het
Lrrc31	T	A	3: 30,745,377 (GRCm39)	H90L	probably damaging	Het
Lvrn	G	A	18: 47,006,870 (GRCm39)	D331N	probably damaging	Het
Me2	A	T	18: 73,924,187 (GRCm39)	W342R	probably damaging	Het
Mob2	A	G	7: 141,563,147 (GRCm39)	F220S	probably damaging	Het
Mroh4	A	G	15: 74,486,865 (GRCm39)	I342T	probably damaging	Het
Naa15	T	C	3: 51,349,368 (GRCm39)	Y46H	probably damaging	Het
Neb	A	G	2: 52,224,465 (GRCm39)	V10A	unknown	Het
Nlrc5	A	G	8: 95,217,044 (GRCm39)	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,041,921 (GRCm39)	T2A	possibly damaging	Het
Nrros	T	C	16: 31,963,288 (GRCm39)	N207S	probably damaging	Het
Or52m2	A	T	7: 102,263,768 (GRCm39)	S143T	probably benign	Het
Or7c70	C	T	10: 78,683,609 (GRCm39)	V47M	probably benign	Het
Pcare	A	T	17: 72,059,635 (GRCm39)	V14D	probably damaging	Het
Ptprz1	C	T	6: 23,000,052 (GRCm39)	T714I	possibly damaging	Het
Rp1	T	C	1: 4,416,616 (GRCm39)	T1499A	possibly damaging	Het
Rubcn	T	C	16: 32,647,081 (GRCm39)	K771E	probably damaging	Het
Sbds	T	C	5: 130,275,247 (GRCm39)	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,384,801 (GRCm39)	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Spef1	T	A	2: 131,014,661 (GRCm39)	D87V	probably damaging	Het
Supv3l1	C	T	10: 62,265,608 (GRCm39)	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,889,769 (GRCm39)	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,226,739 (GRCm39)	L176P	probably damaging	Het
Tma16	A	G	8: 66,936,776 (GRCm39)	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,143,847 (GRCm39)		probably null	Het
Ube2j1	C	T	4: 33,045,164 (GRCm39)	P146S	probably benign	Het
Ubr4	T	A	4: 139,208,099 (GRCm39)	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,919,987 (GRCm39)	D224G	probably damaging	Het
Uxs1	T	C	1: 43,819,240 (GRCm39)	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,234,483 (GRCm39)	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,507,575 (GRCm39)	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,165,981 (GRCm39)	N524D	probably benign	Het
Xrn2	A	T	2: 146,871,675 (GRCm39)	I366L	probably benign	Het
Zfp236	A	T	18: 82,676,159 (GRCm39)	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261 (GRCm39)	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,046,725 (GRCm39)	E415Q	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	12,417,641 (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

Predicted Primers

Posted On

2016-10-05