Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03356:Ldlrad1'

419966

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ldlrad1

Ensembl Gene

ENSMUSG00000070877

Gene Name

low density lipoprotein receptor class A domain containing 1

Synonyms

OTTMUSG00000008594

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03356

Quality Score

Status

Chromosome

Chromosomal Location

107066377-107075257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107072035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 86 (V86M)

Ref Sequence

ENSEMBL: ENSMUSP00000092521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094916]

AlphaFold

D3YYZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094916
AA Change: V86M

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092521
Gene: ENSMUSG00000070877
AA Change: V86M

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
LDLa	89	128	1.01e-5	SMART
LDLa	135	172	5.97e-1	SMART
LDLa	175	217	2.85e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	C	15: 60,791,737 (GRCm39)	M233R	probably benign	Het
Aadat	T	C	8: 60,984,725 (GRCm39)	M256T	probably damaging	Het
Adamts16	T	C	13: 70,901,410 (GRCm39)	N889S	probably benign	Het
Camkk2	A	T	5: 122,881,937 (GRCm39)	I235N	probably damaging	Het
Card6	C	T	15: 5,129,723 (GRCm39)	A558T	probably benign	Het
Ccdc175	T	G	12: 72,186,667 (GRCm39)		probably null	Het
Crot	A	G	5: 9,038,295 (GRCm39)		probably benign	Het
Cyp2c67	A	G	19: 39,628,405 (GRCm39)	S180P	probably damaging	Het
Ddx55	A	G	5: 124,692,816 (GRCm39)	N81S	possibly damaging	Het
Dennd3	C	T	15: 73,440,482 (GRCm39)	T1171M	probably benign	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dpp8	T	A	9: 64,953,069 (GRCm39)	N248K	probably benign	Het
Ganc	T	C	2: 120,265,769 (GRCm39)	I439T	probably benign	Het
Gdpgp1	T	C	7: 79,888,443 (GRCm39)	I158T	possibly damaging	Het
Grm3	T	C	5: 9,562,206 (GRCm39)	D548G	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,514 (GRCm39)		probably benign	Het
Hecw2	A	G	1: 53,966,217 (GRCm39)		probably benign	Het
Hs3st2	A	G	7: 120,992,389 (GRCm39)	E113G	probably damaging	Het
Hspa4	C	A	11: 53,160,627 (GRCm39)	R483L	probably damaging	Het
Ik	C	A	18: 36,889,657 (GRCm39)	S490R	probably damaging	Het
Mfsd4b1	A	C	10: 39,878,827 (GRCm39)	F357V	probably damaging	Het
Ndufa9	A	G	6: 126,821,813 (GRCm39)	V54A	possibly damaging	Het
Nfe2l2	A	G	2: 75,509,544 (GRCm39)	I92T	probably benign	Het
Oas1a	A	G	5: 121,043,908 (GRCm39)	S75P	probably damaging	Het
Oca2	T	G	7: 56,185,716 (GRCm39)	M814R	probably benign	Het
Phlpp2	A	G	8: 110,662,249 (GRCm39)	T879A	probably benign	Het
Potefam3e	A	G	8: 19,799,463 (GRCm39)	I304V	probably benign	Het
Rpe65	A	T	3: 159,321,214 (GRCm39)	Y342F	possibly damaging	Het
Satb2	T	C	1: 56,930,333 (GRCm39)	K230R	probably damaging	Het
Slc4a4	A	G	5: 89,270,342 (GRCm39)	T297A	probably benign	Het
Slpi	T	C	2: 164,198,129 (GRCm39)	T22A	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Synj1	A	G	16: 90,784,280 (GRCm39)	F286S	probably damaging	Het
Tektl1	A	G	10: 78,582,966 (GRCm39)	C473R	possibly damaging	Het
Tigd2	T	A	6: 59,188,690 (GRCm39)	I519K	probably benign	Het
Tyr	G	T	7: 87,141,922 (GRCm39)	L136I	possibly damaging	Het
Vmn1r34	A	T	6: 66,613,970 (GRCm39)	M256K	probably benign	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	Het

Other mutations in Ldlrad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Ldlrad1	APN	4	107,075,086 (GRCm39)	missense	probably damaging	1.00
IGL03180:Ldlrad1	APN	4	107,075,032 (GRCm39)	missense	probably damaging	1.00
R0458:Ldlrad1	UTSW	4	107,073,387 (GRCm39)	missense	probably damaging	1.00
R1556:Ldlrad1	UTSW	4	107,075,010 (GRCm39)	missense	probably benign	0.24
R1610:Ldlrad1	UTSW	4	107,072,072 (GRCm39)	missense	probably damaging	1.00
R1996:Ldlrad1	UTSW	4	107,072,158 (GRCm39)	nonsense	probably null
R4510:Ldlrad1	UTSW	4	107,066,715 (GRCm39)	missense	probably benign	0.00
R4511:Ldlrad1	UTSW	4	107,066,715 (GRCm39)	missense	probably benign	0.00
R7000:Ldlrad1	UTSW	4	107,066,777 (GRCm39)	missense	probably benign	0.14
R7795:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R7797:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R7964:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R7965:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R7990:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8004:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8005:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8007:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8077:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8078:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8088:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8089:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8130:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8883:Ldlrad1	UTSW	4	107,073,412 (GRCm39)	missense	probably damaging	1.00
X0066:Ldlrad1	UTSW	4	107,072,086 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02