Mutagenetix > Incidental Mutation

Incidental Mutation 'R8410:Heatr5a'

652637

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

MMRRC Submission

067880-MU

Accession Numbers

Essential gene?

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

Stock #

R8410 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51922654-52018104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51984903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 637 (I637F)

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

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

AlphaFold

Q5PRF0

Predicted Effect

probably benign
Transcript: ENSMUST00000040583
AA Change: I637F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: I637F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	T	12: 110,635,145 (GRCm39)	M131K	probably benign	Het
Alox15	T	C	11: 70,235,753 (GRCm39)	T569A	probably benign	Het
Arfgef1	A	G	1: 10,229,867 (GRCm39)	V1278A	possibly damaging	Het
Armc5	C	T	7: 127,839,323 (GRCm39)	R214C	probably damaging	Het
Asl	A	G	5: 130,042,351 (GRCm39)	F242L	possibly damaging	Het
Atoh1	G	A	6: 64,706,634 (GRCm39)	G110S	probably benign	Het
Caskin1	T	C	17: 24,721,123 (GRCm39)	F488L	possibly damaging	Het
Chsy1	T	A	7: 65,775,211 (GRCm39)	L180Q	probably damaging	Het
D1Pas1	A	T	1: 186,700,512 (GRCm39)	Q147L	probably benign	Het
D930020B18Rik	A	G	10: 121,521,435 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,395,819 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,380,791 (GRCm39)	E2512G	possibly damaging	Het
Eci2	T	C	13: 35,162,018 (GRCm39)	K351R	probably benign	Het
Frem2	A	G	3: 53,446,598 (GRCm39)	V2390A	possibly damaging	Het
Frmpd2	G	A	14: 33,217,624 (GRCm39)	A40T	probably damaging	Het
Gapdhs	G	A	7: 30,437,335 (GRCm39)	P77S	unknown	Het
Jakmip1	G	A	5: 37,274,828 (GRCm39)	V449M	possibly damaging	Het
Myh14	G	T	7: 44,282,907 (GRCm39)	F737L	probably damaging	Het
Nbea	A	G	3: 55,944,684 (GRCm39)	V560A	probably damaging	Het
Or13n4	T	A	7: 106,423,745 (GRCm39)		probably benign	Het
Or2v2	A	T	11: 49,004,511 (GRCm39)	I14N	possibly damaging	Het
Or4f4-ps1	T	A	2: 111,330,047 (GRCm39)	M150K	probably damaging	Het
Or6x1	C	T	9: 40,098,732 (GRCm39)	T107I	possibly damaging	Het
Prex2	G	T	1: 11,223,881 (GRCm39)	R735L	possibly damaging	Het
Rrm2	T	C	12: 24,758,622 (GRCm39)	S55P	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Ruvbl2	T	C	7: 45,080,756 (GRCm39)	I19V	probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Slc15a5	A	T	6: 137,989,153 (GRCm39)	M147K		Het
St3gal5	A	G	6: 72,119,281 (GRCm39)	D158G	probably benign	Het
Stac3	G	A	10: 127,339,199 (GRCm39)	D103N	probably damaging	Het
Syt2	G	A	1: 134,674,602 (GRCm39)	E347K	possibly damaging	Het
Tent5b	A	G	4: 133,214,362 (GRCm39)	Q411R	possibly damaging	Het
Ticrr	A	G	7: 79,317,423 (GRCm39)	E319G	probably damaging	Het
Ttn	A	G	2: 76,539,985 (GRCm39)	S34334P	probably damaging	Het
Uqcrb	C	A	13: 67,048,850 (GRCm39)	R100L	unknown	Het
Usp43	T	G	11: 67,747,146 (GRCm39)	T854P	probably damaging	Het
Vmn2r102	T	C	17: 19,898,196 (GRCm39)	Y404H	possibly damaging	Het
Wrn	C	T	8: 33,759,048 (GRCm39)	G970D	probably damaging	Het
Zfp456	A	G	13: 67,520,915 (GRCm39)	Y27H	probably damaging	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	Het
Zyx	A	T	6: 42,333,384 (GRCm39)	N437Y	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
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
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'- CCTTCCTCTGCCAAAGGAATC -3'
(R):5'- TCTCTTAGCAATCCCAGGAAATTCTTG -3'

Sequencing Primer
(F):5'- GGAATCAAGTCTATCAGCTTGC -3'
(R):5'- CTGAATGTTCTGGTCTCGT -3'

Posted On

2020-10-20