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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R7636 (G1)

Quality Score

225.009

Status

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

100% (55/55)

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
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
Tmem147	A	T	7: 30,728,301		probably null	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	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
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
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
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