Mutagenetix > Incidental Mutation

Incidental Mutation 'R4303:Heatr5a'

322508

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

MMRRC Submission

041090-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R4303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52003008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 165 (T165A)

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

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

AlphaFold

Q5PRF0

Predicted Effect

probably benign
Transcript: ENSMUST00000040583
AA Change: T165A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: T165A

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,606,055 (GRCm39)	S247P	probably damaging	Het
Atg4b	A	G	1: 93,695,984 (GRCm39)	E41G	probably benign	Het
Bckdk	T	C	7: 127,504,502 (GRCm39)		probably benign	Het
Cacna2d1	A	G	5: 16,507,246 (GRCm39)		probably null	Het
Chaf1a	A	G	17: 56,351,068 (GRCm39)	D16G	unknown	Het
Defb12	A	G	8: 19,162,737 (GRCm39)	I65T	probably benign	Het
Dnah7c	T	C	1: 46,787,738 (GRCm39)	Y3264H	probably damaging	Het
Ehhadh	C	A	16: 21,581,602 (GRCm39)	K463N	probably damaging	Het
Ehmt2	G	A	17: 35,127,724 (GRCm39)	R901Q	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Ern2	T	C	7: 121,777,069 (GRCm39)		probably null	Het
Esp6	A	G	17: 40,876,035 (GRCm39)	T28A	possibly damaging	Het
Gm17333	A	C	16: 77,649,767 (GRCm39)		noncoding transcript	Het
Hoxa5	T	C	6: 52,181,240 (GRCm39)	S31G	probably benign	Het
Ift80	A	G	3: 68,801,507 (GRCm39)	I744T	probably benign	Het
Kalrn	T	C	16: 34,055,761 (GRCm39)	K853E	probably damaging	Het
Krt36	A	T	11: 99,994,239 (GRCm39)	D279E	possibly damaging	Het
Map3k11	T	A	19: 5,740,852 (GRCm39)	V193E	probably damaging	Het
Mrgpra4	T	A	7: 47,630,684 (GRCm39)	M306L	probably benign	Het
Myo1a	A	G	10: 127,549,602 (GRCm39)	T428A	probably benign	Het
Nuggc	A	G	14: 65,848,621 (GRCm39)	H174R	possibly damaging	Het
Or14c40	G	A	7: 86,313,163 (GRCm39)	V98M	probably benign	Het
Or1e29	A	T	11: 73,667,664 (GRCm39)	M163K	possibly damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Pik3ca	C	T	3: 32,494,084 (GRCm39)	R349*	probably null	Het
Rfxank	T	C	8: 70,588,862 (GRCm39)	D89G	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Serpina1a	A	G	12: 103,820,934 (GRCm39)	L348P	probably damaging	Het
Shank1	A	G	7: 43,991,898 (GRCm39)	Y701C	unknown	Het
Six4	G	T	12: 73,159,314 (GRCm39)	D207E	possibly damaging	Het
Slco3a1	G	T	7: 74,204,276 (GRCm39)	D21E	probably benign	Het
Sox6	C	T	7: 115,143,704 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,007,418 (GRCm39)	N216S	probably damaging	Het
Stard13	T	C	5: 150,986,334 (GRCm39)	N392S	possibly damaging	Het
Tax1bp1	T	C	6: 52,704,263 (GRCm39)	V81A	possibly damaging	Het
Trim29	G	T	9: 43,222,419 (GRCm39)	V83L	probably damaging	Het
Vmn1r90	C	T	7: 14,295,495 (GRCm39)	W201*	probably null	Het
Wdr31	T	A	4: 62,378,626 (GRCm39)	N7I	probably damaging	Het
Ypel4	A	G	2: 84,567,151 (GRCm39)		probably benign	Het
Zfp39	T	C	11: 58,780,843 (GRCm39)	K640E	probably damaging	Het
Zfp579	A	G	7: 4,996,072 (GRCm39)		probably benign	Het
Zfp974	C	A	7: 27,609,657 (GRCm39)	K689N	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
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

Predicted Primers

PCR Primer
(F):5'- TGCACTTCTAACATCATGTGGAG -3'
(R):5'- ACGGACAACACTTTTACATAGGG -3'

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

Posted On

2015-06-20