Mutagenetix > Incidental Mutation

Incidental Mutation 'R4797:Heatr1'

369158

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

042421-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R4797 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12426929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 685 (E685K)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

probably benign
Transcript: ENSMUST00000059270
AA Change: E685K

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: E685K

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

noncoding transcript
Transcript: ENSMUST00000221746

Meta Mutation Damage Score

0.1492

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,008,945 (GRCm39)	T1195A	probably benign	Het
Apobr	G	A	7: 126,186,756 (GRCm39)	E756K	probably benign	Het
Arpc3	A	G	5: 122,542,215 (GRCm39)	E77G	possibly damaging	Het
Atp2b2	A	T	6: 113,766,847 (GRCm39)	M464K	possibly damaging	Het
Atxn7l2	A	G	3: 108,111,866 (GRCm39)	S379P	probably damaging	Het
Ccdc91	A	T	6: 147,493,641 (GRCm39)	E344D	unknown	Het
Cdc42bpg	G	A	19: 6,370,477 (GRCm39)	R1190Q	probably damaging	Het
Cdh17	C	A	4: 11,810,390 (GRCm39)	Q694K	probably benign	Het
Chordc1	G	T	9: 18,203,672 (GRCm39)		probably benign	Het
Copg1	A	G	6: 87,880,450 (GRCm39)		probably benign	Het
Dcbld1	T	C	10: 52,160,223 (GRCm39)	V37A	probably damaging	Het
Ddb2	A	G	2: 91,067,163 (GRCm39)		probably benign	Het
Dok5	A	T	2: 170,672,042 (GRCm39)	R115*	probably null	Het
Drc7	T	C	8: 95,800,925 (GRCm39)	I649T	probably damaging	Het
Efr3a	A	G	15: 65,729,437 (GRCm39)	T713A	probably damaging	Het
Epg5	G	A	18: 78,073,614 (GRCm39)	D2494N	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Glb1l3	T	C	9: 26,739,742 (GRCm39)	D356G	probably damaging	Het
Gm1818	A	T	12: 48,602,393 (GRCm39)		noncoding transcript	Het
Gsta5	A	T	9: 78,211,679 (GRCm39)	Y147F	probably benign	Het
Hcrtr2	C	A	9: 76,161,816 (GRCm39)	M191I	probably damaging	Het
Hsd3b2	A	T	3: 98,618,979 (GRCm39)	L322Q	probably damaging	Het
Hsd3b9	T	A	3: 98,363,747 (GRCm39)	R62*	probably null	Het
Htra4	T	C	8: 25,523,675 (GRCm39)	T297A	probably damaging	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Ints1	G	A	5: 139,757,631 (GRCm39)	T324M	possibly damaging	Het
Ints15	A	G	5: 143,297,504 (GRCm39)	F181S	probably benign	Het
Ints7	T	C	1: 191,329,045 (GRCm39)	V268A	probably damaging	Het
Kctd20	G	A	17: 29,185,766 (GRCm39)	V370I	probably damaging	Het
Lama1	T	A	17: 68,023,770 (GRCm39)	M55K	probably benign	Het
Larp1	C	A	11: 57,938,806 (GRCm39)	S494*	probably null	Het
Ldb3	A	T	14: 34,277,470 (GRCm39)	H262Q	possibly damaging	Het
Lepr	C	A	4: 101,637,244 (GRCm39)	T711K	possibly damaging	Het
Mon2	T	C	10: 122,852,422 (GRCm39)	I984V	probably benign	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Oasl1	A	G	5: 115,066,217 (GRCm39)	M112V	probably benign	Het
Or2d2b	A	T	7: 106,705,234 (GRCm39)	M278K	probably benign	Het
Or6c214	A	T	10: 129,590,390 (GRCm39)	S310T	probably benign	Het
Or7c19	G	T	8: 85,957,567 (GRCm39)	A148S	probably benign	Het
P2ry1	T	A	3: 60,910,881 (GRCm39)	S7T	probably benign	Het
Pidd1	G	T	7: 141,022,899 (GRCm39)	R98S	possibly damaging	Het
Pkd1l1	A	C	11: 8,911,340 (GRCm39)	F312L	unknown	Het
Pla2r1	A	T	2: 60,334,524 (GRCm39)	M416K	possibly damaging	Het
Pold1	T	C	7: 44,191,325 (GRCm39)	E194G	possibly damaging	Het
Poldip2	T	A	11: 78,404,813 (GRCm39)	Y77N	probably damaging	Het
Ppp2r3d	G	T	9: 101,089,179 (GRCm39)	N381K	probably benign	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsu1	A	G	2: 13,221,537 (GRCm39)		probably benign	Het
Selenoi	T	A	5: 30,457,740 (GRCm39)	W90R	probably damaging	Het
Spag17	T	A	3: 99,891,795 (GRCm39)	D216E	possibly damaging	Het
Spata31	C	A	13: 65,070,556 (GRCm39)	Y901*	probably null	Het
Ssrp1	T	A	2: 84,876,066 (GRCm39)	Y607*	probably null	Het
Stk10	T	A	11: 32,548,471 (GRCm39)	N346K	probably benign	Het
Surf1	G	T	2: 26,806,358 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,084,163 (GRCm39)	E283V	probably damaging	Het
Tg	G	A	15: 66,629,855 (GRCm39)		probably null	Het
Traf1	A	T	2: 34,846,289 (GRCm39)	D42E	probably benign	Het
Ttn	T	C	2: 76,571,209 (GRCm39)	I26561M	probably damaging	Het
Ubp1	T	C	9: 113,785,070 (GRCm39)	Y128H	probably damaging	Het
Vmn1r216	T	A	13: 23,283,506 (GRCm39)	I63K	probably benign	Het
Vmn1r49	T	A	6: 90,049,612 (GRCm39)	H130L	probably benign	Het
Vmn2r90	C	T	17: 17,932,567 (GRCm39)	T158I	probably damaging	Het
Vps13d	T	C	4: 144,780,725 (GRCm39)	S885G	probably damaging	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
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
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'- GGTCTGTGGGTTAAATGCATAAAC -3'
(R):5'- GTGTTATTTTACCCAACACCCAAC -3'

Sequencing Primer
(F):5'- CTGTGGGTTAAATGCATAAACTTGTC -3'
(R):5'- ACAGCAGTGATGACGCTTTTGAG -3'

Posted On

2016-02-04