Mutagenetix > Incidental Mutation

Incidental Mutation 'R8834:Heatr5a'

674047

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

MMRRC Submission

068662-MU

Accession Numbers

Essential gene?

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

Stock #

R8834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 51956739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q5PRF0

Predicted Effect

probably benign
Transcript: ENSMUST00000040583

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181

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

probably null
Transcript: ENSMUST00000217966

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,877,372 (GRCm39)	T1007A	probably benign	Het
Adcy6	A	G	15: 98,498,922 (GRCm39)	L293P	possibly damaging	Het
Cacna2d1	T	A	5: 16,471,735 (GRCm39)	V260E	possibly damaging	Het
Capn3	T	A	2: 120,294,534 (GRCm39)	F61I	probably damaging	Het
Cdh9	A	G	15: 16,850,964 (GRCm39)	S578G	probably damaging	Het
Cog4	A	G	8: 111,608,049 (GRCm39)	Y714C	probably damaging	Het
Dnah14	T	G	1: 181,444,315 (GRCm39)	F542V	possibly damaging	Het
Dock8	T	C	19: 25,140,834 (GRCm39)	V1350A	probably benign	Het
Eps8	A	G	6: 137,504,306 (GRCm39)		probably benign	Het
Fat3	C	T	9: 15,942,493 (GRCm39)	G1293E	probably damaging	Het
Fnip1	T	C	11: 54,395,581 (GRCm39)	V985A	possibly damaging	Het
Frem1	T	C	4: 82,922,610 (GRCm39)	D397G	probably damaging	Het
Gan	C	G	8: 117,885,031 (GRCm39)	P53R		Het
Gcc2	T	C	10: 58,121,867 (GRCm39)		probably null	Het
Glb1l2	C	T	9: 26,689,314 (GRCm39)		probably null	Het
Gm973	T	C	1: 59,563,820 (GRCm39)	F2L		Het
Kifc2	T	A	15: 76,551,250 (GRCm39)	H681Q	probably damaging	Het
Krt16	T	A	11: 100,139,236 (GRCm39)	S161C	probably damaging	Het
Lrrc3b	A	G	14: 15,358,562 (GRCm38)	C15R	possibly damaging	Het
Lrrc66	C	G	5: 73,765,928 (GRCm39)	A372P	possibly damaging	Het
Ly75	C	T	2: 60,161,433 (GRCm39)	R884H	probably benign	Het
Map2k6	T	A	11: 110,383,419 (GRCm39)	C109*	probably null	Het
Mapk9	C	T	11: 49,774,010 (GRCm39)	S389L	probably damaging	Het
Mier2	C	T	10: 79,386,293 (GRCm39)	G57D	unknown	Het
Mis18bp1	A	T	12: 65,208,419 (GRCm39)	M98K	probably benign	Het
Mrtfa	A	G	15: 80,904,511 (GRCm39)	L196P	probably benign	Het
Or1e17	T	C	11: 73,831,164 (GRCm39)	F31L	possibly damaging	Het
Pcsk7	A	G	9: 45,830,589 (GRCm39)	S456G	possibly damaging	Het
Phf12	T	A	11: 77,897,608 (GRCm39)	C102S	probably damaging	Het
Ppm1k	A	G	6: 57,502,023 (GRCm39)	C47R	probably benign	Het
Rgs10	A	G	7: 127,990,809 (GRCm39)	I93T	probably damaging	Het
Ror2	CCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTC	13: 53,264,338 (GRCm39)		probably benign	Het
Rusc2	T	A	4: 43,416,431 (GRCm39)	F579Y	possibly damaging	Het
Selplg	G	A	5: 113,957,691 (GRCm39)	S205L	possibly damaging	Het
Sh3gl3	T	C	7: 81,955,999 (GRCm39)	V109A	possibly damaging	Het
Tanc2	T	C	11: 105,807,845 (GRCm39)	S336P		Het
Tlr2	C	A	3: 83,746,020 (GRCm39)	R21L	probably benign	Het
Trpa1	C	T	1: 14,963,528 (GRCm39)	V565I	possibly damaging	Het
Ubqln1	A	T	13: 58,331,058 (GRCm39)	S390T	probably damaging	Het
Ubr3	T	C	2: 69,833,785 (GRCm39)	V1514A	probably benign	Het
Uchl5	A	T	1: 143,661,968 (GRCm39)	K81*	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm39)	F2261L	unknown	Het
Usp12	T	A	5: 146,691,327 (GRCm39)	E142D	probably benign	Het
V1ra8	A	T	6: 90,180,622 (GRCm39)	D275V	unknown	Het
Zfp804a	A	G	2: 82,089,441 (GRCm39)	H1090R	possibly 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
R5114:Heatr5a	UTSW	12	52,003,020 (GRCm39)	nonsense	probably null
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
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'- CAGAGTGGTAACTGCTAGGATTAC -3'
(R):5'- TGAGACTGAGTATCACCAAGAATC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- AATCTTAGATTCATTCCCCAAATCTC -3'

Posted On

2021-07-15