Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Heatr1'

577248

Institutional Source

Beutler Lab

Gene Symbol

Heatr1

Ensembl Gene

ENSMUSG00000050244

Gene Name

HEAT repeat containing 1

Synonyms

B130016L12Rik

MMRRC Submission

045521-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12410256-12453774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12445919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 1632 (W1632L)

Ref Sequence

ENSEMBL: ENSMUSP00000054084 (fasta)

Gene Model

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

AlphaFold

G3X9B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059270
AA Change: W1632L

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: W1632L

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

Meta Mutation Damage Score

0.2091

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,962 (GRCm39)	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,793,553 (GRCm39)	C29S	probably damaging	Het
Acsbg3	G	A	17: 57,189,973 (GRCm39)	R333Q	possibly damaging	Het
Ank3	A	G	10: 69,827,954 (GRCm39)	T2208A		Het
Ap4s1	T	C	12: 51,785,424 (GRCm39)	L132P	probably damaging	Het
Ascl4	C	T	10: 85,764,364 (GRCm39)	R4C	probably benign	Het
Brd7	A	T	8: 89,088,336 (GRCm39)	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 28,780,575 (GRCm39)	S648P	possibly damaging	Het
Camta1	C	T	4: 151,228,748 (GRCm39)	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,516,400 (GRCm39)	F53L	probably benign	Het
Chaf1a	A	G	17: 56,369,170 (GRCm39)	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,429,260 (GRCm39)	R126H	possibly damaging	Het
Cog5	T	G	12: 31,969,671 (GRCm39)	S730R	possibly damaging	Het
Col11a1	A	T	3: 113,987,578 (GRCm39)	E1374D	unknown	Het
Csmd1	A	G	8: 16,208,268 (GRCm39)	I1229T	possibly damaging	Het
Degs1l	A	G	1: 180,882,577 (GRCm39)	N113S	possibly damaging	Het
Dnajc30	T	C	5: 135,093,232 (GRCm39)	L43P	probably damaging	Het
Eif3f	C	T	7: 108,533,865 (GRCm39)	T76M	unknown	Het
Ermap	G	A	4: 119,045,907 (GRCm39)	T42I	unknown	Het
Gpd1l	C	T	9: 114,749,742 (GRCm39)	G25S	probably damaging	Het
Ice1	T	C	13: 70,744,286 (GRCm39)	D29G		Het
Ipo8	T	C	6: 148,691,315 (GRCm39)	D685G	probably benign	Het
Klra10	T	C	6: 130,252,819 (GRCm39)	T152A	probably benign	Het
Lmntd1	T	A	6: 145,375,693 (GRCm39)	S82C	probably damaging	Het
Maip1	T	C	1: 57,446,190 (GRCm39)	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,025,256 (GRCm39)	S3P	unknown	Het
Mei4	A	G	9: 81,772,292 (GRCm39)	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,280,336 (GRCm39)	K741Q	probably benign	Het
Mtcl3	T	C	10: 29,072,999 (GRCm39)	S764P	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncapg2	A	G	12: 116,382,888 (GRCm39)	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914 (GRCm39)	M145K	probably damaging	Het
Nmur2	A	G	11: 55,923,766 (GRCm39)	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,994,576 (GRCm39)	E164G	probably benign	Het
Or2ag1	A	G	7: 106,472,549 (GRCm39)	L301S	possibly damaging	Het
Or4c58	T	A	2: 89,674,616 (GRCm39)	T234S	probably damaging	Het
Or6c5b	A	T	10: 129,245,754 (GRCm39)	D173V	probably benign	Het
P3h2	T	A	16: 25,803,815 (GRCm39)	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,190,644 (GRCm39)	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,368,661 (GRCm39)	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,283,801 (GRCm39)	D131G	probably benign	Het
Ppl	T	C	16: 4,906,932 (GRCm39)	D1121G	probably damaging	Het
Prkra	T	C	2: 76,463,942 (GRCm39)	D240G	probably benign	Het
Ptgs1	C	A	2: 36,135,222 (GRCm39)	N395K	probably benign	Het
Ptprq	A	T	10: 107,426,820 (GRCm39)	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,304,227 (GRCm39)	H326L	probably benign	Het
Rapgef5	A	G	12: 117,719,704 (GRCm39)	D778G	probably benign	Het
Rbm46	T	A	3: 82,771,517 (GRCm39)	E366V	probably damaging	Het
Rnd1	G	T	15: 98,568,550 (GRCm39)	H209Q	probably benign	Het
Rnf122	A	T	8: 31,608,528 (GRCm39)	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,105,881 (GRCm39)	P446S	probably benign	Het
Slco1a5	C	A	6: 142,204,734 (GRCm39)	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,597,543 (GRCm39)	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,445,526 (GRCm39)	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,062,757 (GRCm39)	H81Q	probably damaging	Het
Stk16	T	C	1: 75,190,296 (GRCm39)	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122 (GRCm39)	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,502,471 (GRCm39)	A463T	probably benign	Het
Tmem117	T	C	15: 94,612,799 (GRCm39)	F112L	probably benign	Het
Tmem72	A	G	6: 116,675,291 (GRCm39)	I67T	probably benign	Het
Tnik	A	G	3: 28,718,058 (GRCm39)		probably null	Het
Trav14-2	A	G	14: 53,878,515 (GRCm39)	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,598,276 (GRCm39)	D677V	probably damaging	Het
Vgll4	C	T	6: 114,839,157 (GRCm39)	S278N	unknown	Het
Wdfy4	C	T	14: 32,792,575 (GRCm39)	W2157*	probably null	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
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'- TGTCTTACAGAGTTGAGTTCTCC -3'
(R):5'- TGATCCATACAGTGTCCCGG -3'

Sequencing Primer
(F):5'- CTTACAGAGTTGAGTTCTCCTTTTTG -3'
(R):5'- CTTAGCACATCTCTAGCATGAGGAG -3'

Posted On

2019-10-07