Mutagenetix > Incidental Mutations

Incidental Mutation 'R7636:Heatr5a'

589975

Institutional Source

Beutler Lab

Gene Symbol

Heatr5a

Ensembl Gene

ENSMUSG00000035181

Gene Name

HEAT repeat containing 5A

Synonyms

D930036F22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R7636 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51875871-51971321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51952558 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 287 (L287F)

Ref Sequence

ENSEMBL: ENSMUSP00000043115 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040583
AA Change: L287F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: L287F

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: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	C	T	16: 17,117,837	E199K	possibly damaging	Het
4932415D10Rik	T	A	10: 82,295,139	D679V	probably benign	Het
Akap13	C	A	7: 75,609,873	N748K	probably benign	Het
Aldh16a1	G	T	7: 45,147,531	P58T	unknown	Het
Amhr2	T	A	15: 102,452,458	C343S	probably damaging	Het
Ankrd17	A	T	5: 90,232,380	M2483K	possibly damaging	Het
Ano3	A	T	2: 110,682,703	L649*	probably null	Het
Apob	T	C	12: 8,009,516	I2666T	possibly damaging	Het
C1ql3	A	T	2: 13,010,810	V13E	probably benign	Het
Casp12	A	G	9: 5,358,344	I384V	probably benign	Het
Clcn1	A	T	6: 42,291,334	K147*	probably null	Het
Ctnna1	T	A	18: 35,223,473	N398K	possibly damaging	Het
Dcdc2a	A	T	13: 25,102,622	K176M	probably damaging	Het
Depdc5	T	A	5: 32,917,983	S502T	probably benign	Het
Fam166a	A	T	2: 25,218,820	H7L	probably damaging	Het
Fam83e	G	A	7: 45,727,026	D388N	probably damaging	Het
Fbxl15	G	A	19: 46,329,175	E99K	probably benign	Het
Fbxw2	T	C	2: 34,812,944	T186A	probably benign	Het
Frem2	T	A	3: 53,653,247	M1280L	probably benign	Het
Gbgt1	T	A	2: 28,505,314	D321E	probably damaging	Het
Gm4788	A	G	1: 139,739,322	V405A	probably benign	Het
Gsdmc2	T	A	15: 63,828,192	T244S	probably benign	Het
Hfm1	C	A	5: 106,917,466	A116S	probably benign	Het
Insr	A	G	8: 3,258,709	I109T	probably damaging	Het
Itga4	A	G	2: 79,313,832	I688V	probably benign	Het
Lipe	A	G	7: 25,388,617	M49T	probably benign	Het
Lrriq3	A	G	3: 155,188,150	Y496C	probably damaging	Het
Lyst	T	C	13: 13,616,747		probably null	Het
Megf10	T	A	18: 57,276,989	I614N	possibly damaging	Het
Mkx	A	G	18: 7,000,630	I104T	possibly damaging	Het
Mrgpra4	C	A	7: 47,980,973	L293F	possibly damaging	Het
Olfm2	A	G	9: 20,668,297	V386A	possibly damaging	Het
Olfr1234	A	T	2: 89,363,239	Y63*	probably null	Het
Olfr317	A	T	11: 58,732,447	N239K	possibly damaging	Het
Olfr605	C	A	7: 103,442,833	D97Y	probably damaging	Het
Pkd2l1	G	T	19: 44,191,431	D113E	possibly damaging	Het
Rab11fip2	A	T	19: 59,942,885	I39K	possibly damaging	Het
Rab1b	A	T	19: 5,100,782	V99E	probably damaging	Het
Rad54l2	A	T	9: 106,720,387	L140Q	probably damaging	Het
Repin1	T	C	6: 48,596,365	F76S	probably benign	Het
Robo1	A	G	16: 72,563,727	D9G		Het
Scn3a	A	G	2: 65,497,689	L819P	probably damaging	Het
Scn7a	A	T	2: 66,743,828	N150K	possibly damaging	Het
Sh2d3c	T	C	2: 32,725,011	S38P	probably benign	Het
Sin3b	A	T	8: 72,747,734	K549*	probably null	Het
Sorl1	A	G	9: 42,092,334	F222S	possibly damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tmem179	C	T	12: 112,510,743		probably null	Het
Tubg2	A	T	11: 101,160,087	I213F	probably damaging	Het
Zfhx3	T	C	8: 108,946,809	I1497T	probably benign	Het
Zfp128	A	T	7: 12,890,112	M136L	probably benign	Het
Zzz3	G	A	3: 152,427,652	A116T	probably benign	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	synonymous	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
R6798:Heatr5a	UTSW	12	51881265	missense	probably benign	0.01
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
R7665:Heatr5a	UTSW	12	51961530	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'- GTGAGCAGAATCAGCAACTTCG -3'
(R):5'- TTAGGTTGGTCAGGTCTCCAGC -3'

Sequencing Primer
(F):5'- AACTTCGCACTGTGGAGTCAGATC -3'
(R):5'- ACCTAACCCTTGAGAGACTTGGG -3'

Posted On

2019-10-24