Mutagenetix > Incidental Mutation

Incidental Mutation 'R6798:Heatr5a'

533131

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R6798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51875871-51971321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51881265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1816 (V1816A)

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

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

AlphaFold

Q5PRF0

Predicted Effect

probably benign
Transcript: ENSMUST00000040583
AA Change: V1816A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: V1816A

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310046K23Rik	G	C	3: 92,532,936	C65W	unknown	Het
Abcb1a	T	C	5: 8,732,364	Y916H	probably damaging	Het
Adam11	A	G	11: 102,777,008	I740V	probably damaging	Het
Adam22	A	T	5: 8,160,784	D161E	probably damaging	Het
Agap3	A	G	5: 24,498,282		probably null	Het
Ank2	T	C	3: 126,944,264		probably benign	Het
Aspm	T	A	1: 139,468,685	H867Q	possibly damaging	Het
Aurkaip1	T	C	4: 155,832,739		probably null	Het
BC048507	A	C	13: 67,863,564	D20A	probably benign	Het
Cacna1a	G	A	8: 84,611,602	A1704T	probably damaging	Het
Cep152	A	C	2: 125,566,527		probably null	Het
Cep19	T	C	16: 32,104,049		probably null	Het
Chd9	A	T	8: 91,051,554	E2731V	possibly damaging	Het
Chrd	T	C	16: 20,734,306	L139P	probably damaging	Het
Cit	A	G	5: 115,926,526	E489G	possibly damaging	Het
Clcn7	A	G	17: 25,159,760	N720D	probably damaging	Het
Col6a3	T	C	1: 90,795,009		probably null	Het
Dchs2	T	A	3: 83,348,286	Y2430N	probably damaging	Het
Dpy30	A	G	17: 74,307,756	I64T	probably damaging	Het
Eif2b3	G	T	4: 117,066,458	W290L	probably benign	Het
Epha6	T	G	16: 60,605,064	E62A	possibly damaging	Het
Epha6	C	T	16: 60,605,065	E62K	possibly damaging	Het
Epha8	C	T	4: 136,945,669	R268Q	probably benign	Het
Fam155a	G	A	8: 9,770,205	Q272*	probably null	Het
Fbxw17	C	A	13: 50,433,264		probably null	Het
Fndc8	C	T	11: 82,892,391	T66I	probably benign	Het
Frmpd1	A	G	4: 45,284,850	T1224A	probably benign	Het
Gcm2	T	C	13: 41,105,885	D36G	probably damaging	Het
Glt28d2	T	C	3: 85,871,989	D59G	probably benign	Het
Gm4788	T	C	1: 139,698,121	T813A	probably benign	Het
Gorasp1	T	C	9: 119,929,597	D243G	probably benign	Het
Gtsf1l	T	C	2: 163,087,471	K31E	probably benign	Het
Il10ra	T	C	9: 45,256,432	K274E	probably damaging	Het
Il1rl2	T	C	1: 40,365,240	I507T	probably damaging	Het
Jak3	T	G	8: 71,680,971	F408V	probably damaging	Het
Kdm1b	A	G	13: 47,068,536	T484A	probably benign	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Map9	T	G	3: 82,380,164	L31W	probably damaging	Het
Micalcl	T	C	7: 112,376,059		probably benign	Het
Mt1	A	G	8: 94,179,888		probably benign	Het
Myo18b	T	C	5: 112,761,386	I1964V	probably damaging	Het
Nod1	A	T	6: 54,944,611	C241S	probably damaging	Het
Nrxn1	T	A	17: 90,629,950	D685V	probably damaging	Het
Olfr504	T	A	7: 108,565,760	K12*	probably null	Het
Olfr695	T	C	7: 106,714,195	Y162C	probably damaging	Het
Olfr730	A	G	14: 50,187,127	V30A	probably benign	Het
Olfr96	T	G	17: 37,225,806	L227R	probably damaging	Het
Oog1	A	T	12: 87,608,839		probably null	Het
P4htm	T	A	9: 108,582,918	N219I	possibly damaging	Het
Pcif1	T	C	2: 164,885,791	L168P	possibly damaging	Het
Pde4dip	A	G	3: 97,888,534	V46A	probably benign	Het
Pias1	T	C	9: 62,892,169	T480A	probably benign	Het
Prkd2	A	T	7: 16,849,203	K297*	probably null	Het
Prl7d1	T	A	13: 27,709,397		probably null	Het
Pxdc1	G	T	13: 34,652,425	A4E	possibly damaging	Het
Rcor1	A	G	12: 111,039,886		probably benign	Het
Rev3l	A	T	10: 39,854,763	D2761V	probably damaging	Het
Scgb1b7	A	G	7: 31,712,981	T61A	probably damaging	Het
Sec14l2	A	G	11: 4,111,213	Y83H	probably damaging	Het
Setd4	C	A	16: 93,589,953	V286F	probably damaging	Het
Slc22a29	A	G	19: 8,160,604	S536P	probably benign	Het
Snx25	T	C	8: 46,033,773	H977R	probably damaging	Het
Spint5	T	A	2: 164,717,140	C95*	probably null	Het
Srgap1	T	C	10: 121,925,904	D113G	probably damaging	Het
Stxbp2	T	A	8: 3,641,180	S476T	probably benign	Het
Tg	A	G	15: 66,678,839	T273A	probably damaging	Het
Tnc	C	T	4: 63,965,604	R1868H	probably benign	Het
Trappc10	A	G	10: 78,188,831	Y1155H	probably benign	Het
Trpm2	T	A	10: 77,914,740	N1341Y	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Zfand1	T	G	3: 10,346,176	K67T	probably benign	Het
Zfand4	A	C	6: 116,328,253	K214Q	probably benign	Het
Zfp653	A	T	9: 22,057,372	V465E	probably damaging	Het
Zswim8	A	G	14: 20,715,992	Y782C	probably damaging	Het

Other mutations in Heatr5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Heatr5a	APN	12	51888901	missense	probably damaging	0.99
IGL01397:Heatr5a	APN	12	51894369	missense	possibly damaging	0.89
IGL01481:Heatr5a	APN	12	51955425	missense	probably damaging	1.00
IGL01684:Heatr5a	APN	12	51955511	missense	probably benign	0.36
IGL01766:Heatr5a	APN	12	51889664	missense	probably benign	0.15
IGL01799:Heatr5a	APN	12	51897835	missense	probably benign	0.17
IGL02007:Heatr5a	APN	12	51916158	missense	probably damaging	1.00
IGL02093:Heatr5a	APN	12	51916075	missense	possibly damaging	0.68
IGL02205:Heatr5a	APN	12	51877337	missense	probably damaging	1.00
IGL02450:Heatr5a	APN	12	51945430	missense	probably benign	0.02
IGL02565:Heatr5a	APN	12	51951099	missense	possibly damaging	0.54
IGL02707:Heatr5a	APN	12	51921366	missense	probably benign	0.01
IGL02735:Heatr5a	APN	12	51915021	missense	probably damaging	0.99
IGL03160:Heatr5a	APN	12	51884496	splice site	probably benign
F5770:Heatr5a	UTSW	12	51881278	splice site	probably benign
R0034:Heatr5a	UTSW	12	51925172	missense	probably damaging	1.00
R0127:Heatr5a	UTSW	12	51925405	missense	probably benign
R0184:Heatr5a	UTSW	12	51909969	missense	probably benign	0.00
R0362:Heatr5a	UTSW	12	51888861	missense	probably damaging	1.00
R0567:Heatr5a	UTSW	12	51910089	missense	probably damaging	1.00
R0591:Heatr5a	UTSW	12	51910101	splice site	probably benign
R0736:Heatr5a	UTSW	12	51896561	critical splice donor site	probably null
R1532:Heatr5a	UTSW	12	51952518	missense	probably damaging	0.99
R1914:Heatr5a	UTSW	12	51905467	missense	probably damaging	1.00
R1956:Heatr5a	UTSW	12	51945419	critical splice donor site	probably null
R1978:Heatr5a	UTSW	12	51939658	missense	possibly damaging	0.77
R2044:Heatr5a	UTSW	12	51955403	missense	probably benign	0.19
R2263:Heatr5a	UTSW	12	51916150	missense	probably damaging	0.97
R2265:Heatr5a	UTSW	12	51893745	missense	possibly damaging	0.68
R2267:Heatr5a	UTSW	12	51893745	missense	possibly damaging	0.68
R2268:Heatr5a	UTSW	12	51893745	missense	possibly damaging	0.68
R2269:Heatr5a	UTSW	12	51893745	missense	possibly damaging	0.68
R2842:Heatr5a	UTSW	12	51955478	missense	probably null	1.00
R2842:Heatr5a	UTSW	12	51955477	splice site	probably null
R3033:Heatr5a	UTSW	12	51951038	nonsense	probably null
R4303:Heatr5a	UTSW	12	51956225	missense	probably benign	0.01
R4675:Heatr5a	UTSW	12	51877347	missense	probably benign	0.17
R4718:Heatr5a	UTSW	12	51916163	missense	possibly damaging	0.95
R4807:Heatr5a	UTSW	12	51877520	missense	probably damaging	1.00
R5114:Heatr5a	UTSW	12	51956237	nonsense	probably null
R5229:Heatr5a	UTSW	12	51947978	missense	probably benign	0.33
R5411:Heatr5a	UTSW	12	51888243	missense	probably damaging	1.00
R5548:Heatr5a	UTSW	12	51958951	nonsense	probably null
R5603:Heatr5a	UTSW	12	51877575	missense	probably benign	0.26
R5631:Heatr5a	UTSW	12	51955527	missense	probably benign	0.22
R5742:Heatr5a	UTSW	12	51955552	nonsense	probably null
R5969:Heatr5a	UTSW	12	51959040	missense	probably benign
R6020:Heatr5a	UTSW	12	51884327	missense	probably benign	0.01
R6234:Heatr5a	UTSW	12	51877454	missense	possibly damaging	0.69
R6352:Heatr5a	UTSW	12	51951166	missense	possibly damaging	0.88
R6815:Heatr5a	UTSW	12	51955508	missense	possibly damaging	0.89
R7059:Heatr5a	UTSW	12	51888234	missense	probably damaging	0.98
R7143:Heatr5a	UTSW	12	51961468	missense	probably benign	0.09
R7178:Heatr5a	UTSW	12	51925142	missense	probably damaging	0.99
R7291:Heatr5a	UTSW	12	51925339	missense	probably damaging	0.97
R7454:Heatr5a	UTSW	12	51961543	missense	probably benign	0.20
R7511:Heatr5a	UTSW	12	51879434	missense	possibly damaging	0.94
R7636:Heatr5a	UTSW	12	51888196	missense	probably damaging	1.00
R7636:Heatr5a	UTSW	12	51952558	missense	probably damaging	1.00
R7665:Heatr5a	UTSW	12	51961530	missense	probably damaging	1.00
R8088:Heatr5a	UTSW	12	51947996	missense	possibly damaging	0.85
R8205:Heatr5a	UTSW	12	51959009	missense	probably benign	0.05
R8212:Heatr5a	UTSW	12	51899229	missense	probably benign	0.00
R8213:Heatr5a	UTSW	12	51891443	missense	probably damaging	0.96
R8323:Heatr5a	UTSW	12	51955506	missense	probably benign	0.02
R8326:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R8339:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R8395:Heatr5a	UTSW	12	51916178	missense
R8410:Heatr5a	UTSW	12	51938120	missense	probably benign	0.01
R8676:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R8834:Heatr5a	UTSW	12	51909956	critical splice donor site	probably null
R8916:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R9057:Heatr5a	UTSW	12	51939637	missense	probably damaging	1.00
R9248:Heatr5a	UTSW	12	51916243	missense
R9287:Heatr5a	UTSW	12	51920477	missense	probably damaging	0.97
R9332:Heatr5a	UTSW	12	51899285	missense	probably benign	0.33
R9454:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R9515:Heatr5a	UTSW	12	51887919	critical splice donor site	probably benign
R9654:Heatr5a	UTSW	12	51958995	missense	probably damaging	1.00
V7732:Heatr5a	UTSW	12	51905324	missense	possibly damaging	0.65
Z1088:Heatr5a	UTSW	12	51891404	missense	probably damaging	1.00
Z1088:Heatr5a	UTSW	12	51951076	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- GCGCTCTGCTAAAAGACACTTAC -3'
(R):5'- AACTGATCCTTGGGAAATGGGG -3'

Sequencing Primer
(F):5'- GACACTTACCACAGAGTCCTTG -3'
(R):5'- TGGAGCTCAGAGGTAGAATACTTTCC -3'

Posted On

2018-08-29