Mutagenetix > Incidental Mutation

Incidental Mutation 'R5114:Heatr5a'

394105

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

MMRRC Submission

042702-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R5114 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 52003020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 161 (Q161*)

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040583]

AlphaFold

Q5PRF0

Predicted Effect

probably null
Transcript: ENSMUST00000040583
AA Change: Q161*

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: Q161*

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
SCOP:d1qbkb_	112	658	6e-13	SMART
low complexity region	1063	1078	N/A	INTRINSIC
low complexity region	1081	1095	N/A	INTRINSIC
low complexity region	1110	1120	N/A	INTRINSIC
low complexity region	1122	1135	N/A	INTRINSIC
low complexity region	1496	1507	N/A	INTRINSIC
low complexity region	1722	1735	N/A	INTRINSIC
low complexity region	1925	1936	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218254

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	A	9: 120,406,693 (GRCm39)		probably benign	Het
Ada	G	A	2: 163,572,406 (GRCm39)	R225C	probably benign	Het
Adamts9	T	C	6: 92,867,254 (GRCm39)	K625R	probably benign	Het
Ano1	T	C	7: 144,210,820 (GRCm39)	I182V	possibly damaging	Het
Aoc1l2	A	T	6: 48,908,292 (GRCm39)	M431L	probably benign	Het
Aox4	T	C	1: 58,285,445 (GRCm39)	V643A	possibly damaging	Het
Arcn1	T	C	9: 44,671,441 (GRCm39)	I29V	probably benign	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Asb10	A	T	5: 24,745,740 (GRCm39)	L62Q	probably damaging	Het
Atp23	T	A	10: 126,723,403 (GRCm39)	H233L	possibly damaging	Het
Bglap2	C	T	3: 88,289,432 (GRCm39)		probably benign	Het
Carnmt1	T	C	19: 18,655,098 (GRCm39)	S84P	probably damaging	Het
Ccdc152	A	G	15: 3,312,319 (GRCm39)	I180T	probably damaging	Het
Cdr2l	T	C	11: 115,284,186 (GRCm39)	F174S	probably damaging	Het
Celsr2	C	T	3: 108,301,312 (GRCm39)	V2695I	probably benign	Het
Chd1	C	A	17: 15,948,460 (GRCm39)	S127R	probably benign	Het
Chmp4c	T	A	3: 10,450,646 (GRCm39)	F75L	probably benign	Het
Col13a1	A	C	10: 61,725,880 (GRCm39)	V260G	possibly damaging	Het
Col5a1	A	G	2: 27,915,664 (GRCm39)	N183D	probably damaging	Het
Cpn1	C	T	19: 43,974,634 (GRCm39)	V32M	probably damaging	Het
Cxcl1	A	G	5: 91,039,373 (GRCm39)	M39V	probably benign	Het
Dpep2	T	A	8: 106,712,825 (GRCm39)	D455V	probably damaging	Het
Dpp7	G	A	2: 25,242,749 (GRCm39)	T441I	possibly damaging	Het
Dst	C	A	1: 34,241,640 (GRCm39)	H4001N	probably damaging	Het
Epg5	G	A	18: 78,038,828 (GRCm39)	A1519T	probably benign	Het
Esrp2	C	T	8: 106,858,820 (GRCm39)	V606I	probably benign	Het
Fbxo40	T	C	16: 36,789,236 (GRCm39)	K625E	probably damaging	Het
Gbp2b	A	T	3: 142,303,946 (GRCm39)	I14F	probably damaging	Het
Gpr37l1	G	T	1: 135,094,676 (GRCm39)	F189L	probably damaging	Het
Hspa4l	T	C	3: 40,700,197 (GRCm39)	Y30H	possibly damaging	Het
Hspg2	G	A	4: 137,239,237 (GRCm39)	C388Y	probably damaging	Het
Kcna1	A	G	6: 126,619,330 (GRCm39)	I330T	probably damaging	Het
Klhl3	T	A	13: 58,166,781 (GRCm39)	Y350F	probably benign	Het
Kntc1	T	C	5: 123,919,118 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,520 (GRCm39)	C109*	probably null	Het
Lrch4	T	C	5: 137,636,179 (GRCm39)	S377P	probably benign	Het
Lrrc8c	C	A	5: 105,755,349 (GRCm39)	H375N	probably damaging	Het
Lsg1	T	C	16: 30,380,538 (GRCm39)	E633G	probably damaging	Het
Mcoln1	T	C	8: 3,560,697 (GRCm39)		probably benign	Het
Med12l	C	A	3: 59,167,109 (GRCm39)	T1523K	possibly damaging	Het
Mrps27	A	T	13: 99,547,973 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,780,717 (GRCm39)	Y158F	probably benign	Het
Nat8l	T	A	5: 34,155,823 (GRCm39)	C160S	probably damaging	Het
Ncf4	T	C	15: 78,146,593 (GRCm39)		probably benign	Het
Or1b1	A	T	2: 36,994,814 (GRCm39)	Y283N	probably damaging	Het
Or1o3	T	C	17: 37,573,730 (GRCm39)	Y275C	probably damaging	Het
Pak2	T	A	16: 31,861,936 (GRCm39)		probably benign	Het
Pcdhga12	T	C	18: 37,901,160 (GRCm39)	I664T	probably benign	Het
Pcnx2	A	C	8: 126,564,749 (GRCm39)	L1048R	possibly damaging	Het
Pcsk5	T	C	19: 17,652,949 (GRCm39)	M246V	probably damaging	Het
Pkd2l2	T	A	18: 34,566,355 (GRCm39)	V522D	probably benign	Het
Plekhh1	A	T	12: 79,115,880 (GRCm39)	M808L	probably benign	Het
Plpp2	C	A	10: 79,362,973 (GRCm39)	R157L	probably benign	Het
Plrg1	T	A	3: 82,978,558 (GRCm39)	H441Q	probably benign	Het
Pnpla6	T	C	8: 3,572,613 (GRCm39)	V300A	probably damaging	Het
Ptprb	A	T	10: 116,184,088 (GRCm39)	K1633N	possibly damaging	Het
Ralgapa1	A	G	12: 55,659,508 (GRCm39)	V2004A	possibly damaging	Het
Rasd1	G	T	11: 59,854,933 (GRCm39)	S182R	possibly damaging	Het
Rc3h2	A	T	2: 37,288,373 (GRCm39)		probably null	Het
Rrp1b	T	A	17: 32,255,445 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,474,272 (GRCm39)	I425T	probably benign	Het
Shisal1	T	C	15: 84,301,427 (GRCm39)	D72G	probably damaging	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Slc12a2	A	G	18: 58,032,344 (GRCm39)	Y348C	probably damaging	Het
Slc14a2	C	A	18: 78,238,963 (GRCm39)	V219L	possibly damaging	Het
Smc1b	G	T	15: 84,949,185 (GRCm39)	P1242Q	probably damaging	Het
Smim33	A	G	18: 35,861,894 (GRCm39)	Y126C	probably damaging	Het
Snx27	T	A	3: 94,431,551 (GRCm39)	D281V	probably damaging	Het
Spem2	C	T	11: 69,707,973 (GRCm39)	V331I	probably benign	Het
Sptb	C	A	12: 76,656,052 (GRCm39)	K1343N	probably damaging	Het
Sult2a8	T	C	7: 14,147,584 (GRCm39)	I236V	probably benign	Het
Syk	A	G	13: 52,765,071 (GRCm39)	E66G	probably damaging	Het
Synm	T	A	7: 67,385,406 (GRCm39)	E310V	probably damaging	Het
Tas2r118	G	A	6: 23,969,209 (GRCm39)	A284V	probably benign	Het
Thoc2l	T	A	5: 104,667,742 (GRCm39)	F755I	probably damaging	Het
Tlr11	A	G	14: 50,600,578 (GRCm39)	N855D	possibly damaging	Het
Tmem230	G	T	2: 132,087,871 (GRCm39)		probably benign	Het
Trappc8	G	A	18: 20,977,237 (GRCm39)	T844I	probably benign	Het
Trmt44	T	C	5: 35,722,812 (GRCm39)	S419G	possibly damaging	Het
Trpv1	T	A	11: 73,132,574 (GRCm39)	V396E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp2	A	G	7: 139,587,354 (GRCm39)	I337T	possibly damaging	Het
Ubr4	T	C	4: 139,137,934 (GRCm39)	I1097T	probably damaging	Het
Vmn2r61	T	C	7: 41,949,953 (GRCm39)	F791S	possibly damaging	Het
Zdhhc2	T	A	8: 40,898,825 (GRCm39)	M45K	probably benign	Het
Zfp383	T	A	7: 29,614,166 (GRCm39)	D140E	probably damaging	Het
Zfp712	C	A	13: 67,189,425 (GRCm39)	K367N	probably damaging	Het
Zfp763	C	T	17: 33,237,949 (GRCm39)	A399T	probably damaging	Het

Other mutations in Heatr5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Heatr5a	APN	12	51,935,684 (GRCm39)	missense	probably damaging	0.99
IGL01397:Heatr5a	APN	12	51,941,152 (GRCm39)	missense	possibly damaging	0.89
IGL01481:Heatr5a	APN	12	52,002,208 (GRCm39)	missense	probably damaging	1.00
IGL01684:Heatr5a	APN	12	52,002,294 (GRCm39)	missense	probably benign	0.36
IGL01766:Heatr5a	APN	12	51,936,447 (GRCm39)	missense	probably benign	0.15
IGL01799:Heatr5a	APN	12	51,944,618 (GRCm39)	missense	probably benign	0.17
IGL02007:Heatr5a	APN	12	51,962,941 (GRCm39)	missense	probably damaging	1.00
IGL02093:Heatr5a	APN	12	51,962,858 (GRCm39)	missense	possibly damaging	0.68
IGL02205:Heatr5a	APN	12	51,924,120 (GRCm39)	missense	probably damaging	1.00
IGL02450:Heatr5a	APN	12	51,992,213 (GRCm39)	missense	probably benign	0.02
IGL02565:Heatr5a	APN	12	51,997,882 (GRCm39)	missense	possibly damaging	0.54
IGL02707:Heatr5a	APN	12	51,968,149 (GRCm39)	missense	probably benign	0.01
IGL02735:Heatr5a	APN	12	51,961,804 (GRCm39)	missense	probably damaging	0.99
IGL03160:Heatr5a	APN	12	51,931,279 (GRCm39)	splice site	probably benign
F5770:Heatr5a	UTSW	12	51,928,061 (GRCm39)	splice site	probably benign
R0034:Heatr5a	UTSW	12	51,971,955 (GRCm39)	missense	probably damaging	1.00
R0127:Heatr5a	UTSW	12	51,972,188 (GRCm39)	missense	probably benign
R0184:Heatr5a	UTSW	12	51,956,752 (GRCm39)	missense	probably benign	0.00
R0362:Heatr5a	UTSW	12	51,935,644 (GRCm39)	missense	probably damaging	1.00
R0567:Heatr5a	UTSW	12	51,956,872 (GRCm39)	missense	probably damaging	1.00
R0591:Heatr5a	UTSW	12	51,956,884 (GRCm39)	splice site	probably benign
R0736:Heatr5a	UTSW	12	51,943,344 (GRCm39)	critical splice donor site	probably null
R1532:Heatr5a	UTSW	12	51,999,301 (GRCm39)	missense	probably damaging	0.99
R1914:Heatr5a	UTSW	12	51,952,250 (GRCm39)	missense	probably damaging	1.00
R1956:Heatr5a	UTSW	12	51,992,202 (GRCm39)	critical splice donor site	probably null
R1978:Heatr5a	UTSW	12	51,986,441 (GRCm39)	missense	possibly damaging	0.77
R2044:Heatr5a	UTSW	12	52,002,186 (GRCm39)	missense	probably benign	0.19
R2263:Heatr5a	UTSW	12	51,962,933 (GRCm39)	missense	probably damaging	0.97
R2265:Heatr5a	UTSW	12	51,940,528 (GRCm39)	missense	possibly damaging	0.68
R2267:Heatr5a	UTSW	12	51,940,528 (GRCm39)	missense	possibly damaging	0.68
R2268:Heatr5a	UTSW	12	51,940,528 (GRCm39)	missense	possibly damaging	0.68
R2269:Heatr5a	UTSW	12	51,940,528 (GRCm39)	missense	possibly damaging	0.68
R2842:Heatr5a	UTSW	12	52,002,260 (GRCm39)	splice site	probably null
R2842:Heatr5a	UTSW	12	52,002,261 (GRCm39)	missense	probably null	1.00
R3033:Heatr5a	UTSW	12	51,997,821 (GRCm39)	nonsense	probably null
R4303:Heatr5a	UTSW	12	52,003,008 (GRCm39)	missense	probably benign	0.01
R4675:Heatr5a	UTSW	12	51,924,130 (GRCm39)	missense	probably benign	0.17
R4718:Heatr5a	UTSW	12	51,962,946 (GRCm39)	missense	possibly damaging	0.95
R4807:Heatr5a	UTSW	12	51,924,303 (GRCm39)	missense	probably damaging	1.00
R5229:Heatr5a	UTSW	12	51,994,761 (GRCm39)	missense	probably benign	0.33
R5411:Heatr5a	UTSW	12	51,935,026 (GRCm39)	missense	probably damaging	1.00
R5548:Heatr5a	UTSW	12	52,005,734 (GRCm39)	nonsense	probably null
R5603:Heatr5a	UTSW	12	51,924,358 (GRCm39)	missense	probably benign	0.26
R5631:Heatr5a	UTSW	12	52,002,310 (GRCm39)	missense	probably benign	0.22
R5742:Heatr5a	UTSW	12	52,002,335 (GRCm39)	nonsense	probably null
R5969:Heatr5a	UTSW	12	52,005,823 (GRCm39)	missense	probably benign
R6020:Heatr5a	UTSW	12	51,931,110 (GRCm39)	missense	probably benign	0.01
R6234:Heatr5a	UTSW	12	51,924,237 (GRCm39)	missense	possibly damaging	0.69
R6352:Heatr5a	UTSW	12	51,997,949 (GRCm39)	missense	possibly damaging	0.88
R6798:Heatr5a	UTSW	12	51,928,048 (GRCm39)	missense	probably benign	0.01
R6815:Heatr5a	UTSW	12	52,002,291 (GRCm39)	missense	possibly damaging	0.89
R7059:Heatr5a	UTSW	12	51,935,017 (GRCm39)	missense	probably damaging	0.98
R7143:Heatr5a	UTSW	12	52,008,251 (GRCm39)	missense	probably benign	0.09
R7178:Heatr5a	UTSW	12	51,971,925 (GRCm39)	missense	probably damaging	0.99
R7291:Heatr5a	UTSW	12	51,972,122 (GRCm39)	missense	probably damaging	0.97
R7454:Heatr5a	UTSW	12	52,008,326 (GRCm39)	missense	probably benign	0.20
R7511:Heatr5a	UTSW	12	51,926,217 (GRCm39)	missense	possibly damaging	0.94
R7636:Heatr5a	UTSW	12	51,999,341 (GRCm39)	missense	probably damaging	1.00
R7636:Heatr5a	UTSW	12	51,934,979 (GRCm39)	missense	probably damaging	1.00
R7665:Heatr5a	UTSW	12	52,008,313 (GRCm39)	missense	probably damaging	1.00
R8088:Heatr5a	UTSW	12	51,994,779 (GRCm39)	missense	possibly damaging	0.85
R8205:Heatr5a	UTSW	12	52,005,792 (GRCm39)	missense	probably benign	0.05
R8212:Heatr5a	UTSW	12	51,946,012 (GRCm39)	missense	probably benign	0.00
R8213:Heatr5a	UTSW	12	51,938,226 (GRCm39)	missense	probably damaging	0.96
R8323:Heatr5a	UTSW	12	52,002,289 (GRCm39)	missense	probably benign	0.02
R8326:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R8339:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R8395:Heatr5a	UTSW	12	51,962,961 (GRCm39)	missense
R8410:Heatr5a	UTSW	12	51,984,903 (GRCm39)	missense	probably benign	0.01
R8676:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R8834:Heatr5a	UTSW	12	51,956,739 (GRCm39)	critical splice donor site	probably null
R8916:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R9057:Heatr5a	UTSW	12	51,986,420 (GRCm39)	missense	probably damaging	1.00
R9248:Heatr5a	UTSW	12	51,963,026 (GRCm39)	missense
R9287:Heatr5a	UTSW	12	51,967,260 (GRCm39)	missense	probably damaging	0.97
R9332:Heatr5a	UTSW	12	51,946,068 (GRCm39)	missense	probably benign	0.33
R9454:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R9515:Heatr5a	UTSW	12	51,934,702 (GRCm39)	critical splice donor site	probably benign
R9654:Heatr5a	UTSW	12	52,005,778 (GRCm39)	missense	probably damaging	1.00
V7732:Heatr5a	UTSW	12	51,952,107 (GRCm39)	missense	possibly damaging	0.65
Z1088:Heatr5a	UTSW	12	51,997,859 (GRCm39)	missense	probably benign	0.29
Z1088:Heatr5a	UTSW	12	51,938,187 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTTGCACTTCTAACATCATG -3'
(R):5'- CACTTTTACATAGGGAGCTGAGTG -3'

Sequencing Primer
(F):5'- CTTCTAACATCATGTGGAGAGGACTC -3'
(R):5'- TTTACATAGGGAGCTGAGTGATCAG -3'

Posted On

2016-06-15