Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02450:Heatr5a'

294129

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 #

IGL02450

Quality Score

Status

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51992213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 566 (M566L)

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

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

AlphaFold

Q5PRF0

Predicted Effect

probably benign
Transcript: ENSMUST00000040583
AA Change: M566L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: M566L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219277

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,798,963 (GRCm39)	*781W	probably null	Het
Adamts16	C	A	13: 70,984,419 (GRCm39)	R81S	probably damaging	Het
Aldh1l1	A	G	6: 90,546,855 (GRCm39)	D386G	probably benign	Het
Anxa6	G	A	11: 54,885,767 (GRCm39)	R393W	probably damaging	Het
Bdnf	G	A	2: 109,553,949 (GRCm39)	V108I	possibly damaging	Het
Bpgm	C	T	6: 34,464,399 (GRCm39)	R39W	probably damaging	Het
Cd101	T	C	3: 100,901,054 (GRCm39)	E1006G	probably damaging	Het
Cd109	A	T	9: 78,603,132 (GRCm39)	E972V	possibly damaging	Het
Cdhr3	T	A	12: 33,132,224 (GRCm39)	Q133L	probably benign	Het
Cdk5r1	C	T	11: 80,368,666 (GRCm39)	A111V	probably benign	Het
Cnga4	A	T	7: 105,054,955 (GRCm39)	I77F	probably damaging	Het
Egfem1	G	A	3: 29,711,417 (GRCm39)		probably null	Het
Fbxl21	T	A	13: 56,674,766 (GRCm39)	V39D	possibly damaging	Het
Gimap6	T	C	6: 48,681,351 (GRCm39)	I94M	probably benign	Het
Glis1	T	C	4: 107,484,726 (GRCm39)	V407A	probably benign	Het
Gm5784	C	T	12: 19,437,970 (GRCm39)		noncoding transcript	Het
Gm9839	A	T	1: 32,559,964 (GRCm39)		probably benign	Het
Jph1	G	A	1: 17,074,201 (GRCm39)	P606S	possibly damaging	Het
Jup	C	T	11: 100,269,183 (GRCm39)	C410Y	probably damaging	Het
Kif23	A	G	9: 61,831,239 (GRCm39)	M777T	probably benign	Het
Lifr	G	T	15: 7,220,246 (GRCm39)	D959Y	probably damaging	Het
Lsm1	C	A	8: 26,283,806 (GRCm39)	L73I	possibly damaging	Het
Maneal	G	A	4: 124,750,928 (GRCm39)	A276V	probably benign	Het
Myh4	A	G	11: 67,142,635 (GRCm39)	D932G	probably damaging	Het
Nipbl	C	T	15: 8,373,058 (GRCm39)	V1063M	probably damaging	Het
Nlrx1	A	G	9: 44,164,798 (GRCm39)	V882A	probably benign	Het
Obox6	A	G	7: 15,567,638 (GRCm39)	C270R	probably damaging	Het
Or13a19	A	G	7: 139,903,140 (GRCm39)	H176R	possibly damaging	Het
Pard3b	A	G	1: 62,571,835 (GRCm39)	I925V	possibly damaging	Het
Pdhx	A	G	2: 102,872,594 (GRCm39)	S163P	probably benign	Het
Pdzrn3	T	C	6: 101,331,461 (GRCm39)	D271G	probably damaging	Het
Plec	A	G	15: 76,075,515 (GRCm39)	I399T	probably damaging	Het
Pthlh	T	G	6: 147,158,666 (GRCm39)	D98A	possibly damaging	Het
Spata31f3	A	G	4: 42,874,127 (GRCm39)	S14P	probably benign	Het
Spock3	T	A	8: 63,698,249 (GRCm39)		probably null	Het
Tgtp2	C	T	11: 48,950,317 (GRCm39)	G85D	probably benign	Het
Tmem94	A	G	11: 115,683,897 (GRCm39)	D739G	probably damaging	Het
Washc5	G	A	15: 59,204,166 (GRCm39)	R706*	probably null	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zscan20	G	T	4: 128,480,450 (GRCm39)	D680E	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
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