Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02093:Heatr5a'

279497

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02093

Quality Score

Status

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51962858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1014 (E1014G)

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

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

AlphaFold

Q5PRF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040583
AA Change: E1014G

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: E1014G

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

unknown
Transcript: ENSMUST00000217966
AA Change: E108G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220369

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,160,396 (GRCm39)	Y41F	probably benign	Het
Amigo1	T	C	3: 108,095,214 (GRCm39)	Y238H	probably benign	Het
Ankrd17	A	G	5: 90,390,822 (GRCm39)	S2283P	possibly damaging	Het
Apobec4	A	G	1: 152,632,119 (GRCm39)	H49R	possibly damaging	Het
Arhgap44	T	C	11: 64,965,360 (GRCm39)	K34R	probably damaging	Het
Arsg	A	G	11: 109,416,272 (GRCm39)	Y173C	possibly damaging	Het
Arv1	C	A	8: 125,457,617 (GRCm39)	L56M	probably damaging	Het
B3glct	A	T	5: 149,656,150 (GRCm39)	R194S	probably benign	Het
Ccdc39	T	A	3: 33,886,717 (GRCm39)	Y297F	probably benign	Het
Dnah8	A	G	17: 30,936,854 (GRCm39)	E1552G	probably damaging	Het
Dnajb9	T	C	12: 44,253,987 (GRCm39)	H140R	probably damaging	Het
Dock5	T	G	14: 68,076,992 (GRCm39)		probably benign	Het
Egr2	G	A	10: 67,375,854 (GRCm39)	G92D	probably damaging	Het
Evi2a	G	A	11: 79,418,490 (GRCm39)	S40L	probably benign	Het
Fshr	A	G	17: 89,309,317 (GRCm39)		probably null	Het
Glce	G	A	9: 61,977,821 (GRCm39)	T21I	probably damaging	Het
Gucy2d	C	A	7: 98,092,755 (GRCm39)	S44*	probably null	Het
Hnrnpll	A	T	17: 80,351,933 (GRCm39)	H337Q	probably benign	Het
Jhy	G	T	9: 40,856,163 (GRCm39)		probably null	Het
Kat5	A	T	19: 5,653,903 (GRCm39)	M427K	probably benign	Het
Lama5	G	A	2: 179,830,380 (GRCm39)	P1876S	probably damaging	Het
Lamc3	C	A	2: 31,777,667 (GRCm39)	H104Q	probably damaging	Het
Lcn5	T	C	2: 25,548,462 (GRCm39)	Y84H	probably damaging	Het
Mageb18	T	A	X: 91,163,872 (GRCm39)	K123N	probably damaging	Het
Mfhas1	T	A	8: 36,056,498 (GRCm39)	N324K	probably damaging	Het
Nagk	T	C	6: 83,776,352 (GRCm39)	F189S	probably damaging	Het
Nbas	T	A	12: 13,610,963 (GRCm39)	M2218K	probably benign	Het
Nuak2	C	A	1: 132,259,850 (GRCm39)	P543T	probably benign	Het
Or2ag17	C	T	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or5bh3	C	T	X: 49,098,705 (GRCm39)	M136I	possibly damaging	Het
Prl8a9	T	C	13: 27,743,436 (GRCm39)	Y123C	probably damaging	Het
Rapgef5	T	C	12: 117,682,867 (GRCm39)	F220S	probably damaging	Het
Rexo4	T	C	2: 26,852,530 (GRCm39)	D135G	probably benign	Het
Slc39a10	C	T	1: 46,874,369 (GRCm39)	R311Q	probably damaging	Het
Slfn10-ps	A	T	11: 82,923,016 (GRCm39)		noncoding transcript	Het
Tfrc	A	G	16: 32,449,012 (GRCm39)	E717G	probably benign	Het
Tg	T	A	15: 66,564,223 (GRCm39)	N1141K	possibly damaging	Het
Topors	T	C	4: 40,261,467 (GRCm39)	S606G	probably damaging	Het
Usp11	A	G	X: 20,585,591 (GRCm39)	D827G	probably benign	Het
Vmn2r1	A	T	3: 64,012,130 (GRCm39)	M664L	probably benign	Het
Vmn2r14	A	T	5: 109,368,275 (GRCm39)	M239K	possibly damaging	Het
Xiap	T	C	X: 41,188,704 (GRCm39)		probably benign	Het
Zfp2	G	A	11: 50,791,831 (GRCm39)	P71S	probably benign	Het
Zhx1	T	A	15: 57,916,264 (GRCm39)	T661S	probably benign	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
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
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

Posted On

2015-04-16