Mutagenetix > Incidental Mutation

Incidental Mutation 'R9289:Heatr1'

704163

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 #

R9289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12447608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1767 (V1767A)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: V1767A

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: V1767A

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
AA Change: V367A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1645

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,333 (GRCm39)	T306I	probably benign	Het
Aurkb	T	C	11: 68,941,175 (GRCm39)	I250T	probably damaging	Het
C1qtnf1	A	G	11: 118,334,672 (GRCm39)	T51A	probably benign	Het
C1rb	G	T	6: 124,552,272 (GRCm39)	R330L	possibly damaging	Het
Cd8b1	G	A	6: 71,306,777 (GRCm39)		probably null	Het
Cep57l1	A	T	10: 41,607,082 (GRCm39)	D160E	probably damaging	Het
Ces1f	C	T	8: 93,992,491 (GRCm39)	S320N	probably benign	Het
Cfap54	A	G	10: 92,656,936 (GRCm39)	S3039P	possibly damaging	Het
Chia1	A	T	3: 106,022,502 (GRCm39)		probably benign	Het
Chka	T	G	19: 3,935,953 (GRCm39)	F220V	possibly damaging	Het
Cmtm2b	A	G	8: 105,048,980 (GRCm39)		probably benign	Het
Dgcr8	C	T	16: 18,098,079 (GRCm39)		probably benign	Het
Dhx30	T	C	9: 109,920,603 (GRCm39)	T304A	possibly damaging	Het
Dhx30	A	T	9: 109,922,189 (GRCm39)	D164E	probably benign	Het
Dip2b	A	T	15: 100,071,152 (GRCm39)	K661I	probably damaging	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dop1b	T	A	16: 93,568,681 (GRCm39)	L1581H	probably damaging	Het
Fam219a	C	A	4: 41,521,942 (GRCm39)	G46V	probably damaging	Het
Fer1l6	G	A	15: 58,490,766 (GRCm39)	V1028M	probably damaging	Het
Glb1	C	A	9: 114,249,558 (GRCm39)	A129E	probably damaging	Het
Ift88	T	A	14: 57,718,199 (GRCm39)	S591T	probably benign	Het
Itgb4	A	G	11: 115,885,187 (GRCm39)	K1023R	probably benign	Het
Mfng	C	A	15: 78,643,457 (GRCm39)	S250I	probably damaging	Het
Mmp9	A	G	2: 164,796,800 (GRCm39)	T723A	probably benign	Het
Mzf1	T	A	7: 12,785,534 (GRCm39)	H299L	probably benign	Het
Naa40	T	C	19: 7,211,485 (GRCm39)	K47E	possibly damaging	Het
Ncdn	A	C	4: 126,643,903 (GRCm39)	F306L	possibly damaging	Het
Notch3	A	G	17: 32,377,254 (GRCm39)	C246R	probably damaging	Het
Npc1l1	A	T	11: 6,168,355 (GRCm39)	Y945*	probably null	Het
Or2av9	T	A	11: 58,380,745 (GRCm39)	I279L	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2y14	C	T	11: 49,404,635 (GRCm39)	P57S	probably damaging	Het
Or52n5	T	C	7: 104,587,816 (GRCm39)	W28R	probably damaging	Het
Pcnx1	C	A	12: 82,028,853 (GRCm39)	D1044E		Het
Pgm2l1	T	A	7: 99,919,629 (GRCm39)	I575K	probably damaging	Het
Plat	T	C	8: 23,272,100 (GRCm39)	I553T	probably damaging	Het
Prrc2c	A	G	1: 162,507,130 (GRCm39)	V2513A	probably benign	Het
Qser1	A	T	2: 104,617,593 (GRCm39)	V983E	possibly damaging	Het
Ring1	A	G	17: 34,241,547 (GRCm39)	S190P	possibly damaging	Het
Rnf150	A	G	8: 83,716,982 (GRCm39)	E163G	probably benign	Het
Scgb2b12	T	C	7: 32,026,060 (GRCm39)	H44R	probably benign	Het
Septin4	T	A	11: 87,459,792 (GRCm39)	C513*	probably null	Het
Shtn1	T	C	19: 58,998,257 (GRCm39)	K379E	probably damaging	Het
Slc52a2	G	T	15: 76,424,475 (GRCm39)	V238L	probably benign	Het
Smg1	T	C	7: 117,744,639 (GRCm39)	H3171R	possibly damaging	Het
Tada3	A	G	6: 113,347,264 (GRCm39)	V342A	possibly damaging	Het
Tbc1d20	T	C	2: 152,153,262 (GRCm39)	V264A	probably damaging	Het
Tmco5	G	A	2: 116,710,745 (GRCm39)	A22T	probably benign	Het
Tmem63b	A	G	17: 45,975,697 (GRCm39)	F549S	probably benign	Het
Trav16d-dv11	T	C	14: 53,285,086 (GRCm39)	F54S	probably benign	Het
Trim7	A	T	11: 48,736,281 (GRCm39)	K5*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zfp78	T	C	7: 6,381,367 (GRCm39)	I139T	probably benign	Het
Zfp839	T	A	12: 110,834,878 (GRCm39)	V711D	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
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'- TGTAGCAAACACAGCTGGC -3'
(R):5'- AGAGGTACATGTTCAACAGACAC -3'

Sequencing Primer
(F):5'- AACACAGCTGGCTGAGAGTTTTTC -3'
(R):5'- AGACACACACCTCTGTTTGG -3'

Posted On

2022-03-25