Mutagenetix > Incidental Mutation

Incidental Mutation 'R8395:Heatr5a'

647578

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

MMRRC Submission

067759-MU

Accession Numbers

Essential gene?

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

Stock #

R8395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51962961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 74 (S74P)

Gene Model

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

AlphaFold

Q5PRF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040583
AA Change: S980P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: S980P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,218,280 (GRCm39)	E352G	possibly damaging	Het
Ascc3	T	C	10: 50,525,400 (GRCm39)	F532L	possibly damaging	Het
Bckdk	G	A	7: 127,507,139 (GRCm39)	V328I	probably benign	Het
Cenpu	T	C	8: 47,007,084 (GRCm39)	Y26H	probably benign	Het
Clk3	A	T	9: 57,672,445 (GRCm39)	V119E	probably benign	Het
Cnn2	A	G	10: 79,828,293 (GRCm39)	N90S	probably benign	Het
Dlk2	T	C	17: 46,611,969 (GRCm39)	I78T	probably damaging	Het
Ercc8	G	T	13: 108,323,788 (GRCm39)	E367*	probably null	Het
Gbp9	A	T	5: 105,228,069 (GRCm39)	I571K	probably damaging	Het
Gm3404	T	C	5: 146,462,724 (GRCm39)	I29T	possibly damaging	Het
Gpat4	GTGTT	GT	8: 23,669,498 (GRCm39)		probably benign	Het
Htr6	T	G	4: 138,789,078 (GRCm39)	M326L	possibly damaging	Het
Ighv5-8	C	T	12: 113,618,813 (GRCm39)	A76V	unknown	Het
Ippk	A	G	13: 49,615,096 (GRCm39)	E493G	probably damaging	Het
Kiz	A	G	2: 146,794,949 (GRCm39)	N603S	possibly damaging	Het
Limch1	A	T	5: 67,126,394 (GRCm39)	K7N	probably damaging	Het
Lrp1b	C	T	2: 40,547,411 (GRCm39)	C4257Y		Het
Map4k5	C	G	12: 69,877,203 (GRCm39)	R381T	probably null	Het
Map9	A	G	3: 82,289,276 (GRCm39)	I455V	probably benign	Het
Mpped1	T	C	15: 83,684,257 (GRCm39)	V93A	probably damaging	Het
Myh10	T	C	11: 68,682,842 (GRCm39)	L1129P	probably damaging	Het
Neb	T	A	2: 52,065,645 (GRCm39)	M6196L	probably benign	Het
Neb	C	A	2: 52,147,806 (GRCm39)	V2738F	probably damaging	Het
Or10ad1	A	G	15: 98,105,500 (GRCm39)	V255A	probably benign	Het
Or8k18	G	A	2: 86,085,878 (GRCm39)	S53F	possibly damaging	Het
Sgf29	T	A	7: 126,271,837 (GRCm39)	C287*	probably null	Het
Siglece	A	G	7: 43,305,523 (GRCm39)	V398A	probably benign	Het
Slc43a1	T	C	2: 84,671,266 (GRCm39)	L67P	probably damaging	Het
Slco2a1	A	G	9: 102,954,239 (GRCm39)	H470R	probably benign	Het
Spata31d1e	A	G	13: 59,889,540 (GRCm39)	V760A	probably benign	Het
Syngr1	T	C	15: 79,997,445 (GRCm39)	S188P	probably benign	Het
Trpm4	T	C	7: 44,958,634 (GRCm39)	D885G	probably benign	Het
Ubd	A	T	17: 37,506,249 (GRCm39)	Q45L	probably damaging	Het
Unc45a	A	T	7: 79,976,080 (GRCm39)	C800S	probably benign	Het
Vmn2r112	A	G	17: 22,837,587 (GRCm39)	T683A	possibly damaging	Het
Vmn2r25	T	A	6: 123,799,982 (GRCm39)	T787S	possibly damaging	Het
Vmn2r85	G	A	10: 130,261,797 (GRCm39)	P180L	probably damaging	Het
Vtcn1	T	C	3: 100,791,070 (GRCm39)	F36S	probably benign	Het
Wdr86	A	G	5: 24,935,187 (GRCm39)	L52P	probably damaging	Het
Xpo4	A	T	14: 57,885,924 (GRCm39)	S43T	probably benign	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	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
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'- ATATGCTAAGCAGAGAGACTAAGCC -3'
(R):5'- AGATTGGTAGCGGCACATC -3'

Sequencing Primer
(F):5'- AGCCTTAAGTTATTTCTATGCGTG -3'
(R):5'- GATTGGTAGCGGCACATCCATTC -3'

Posted On

2020-09-02