Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01070:Efr3a'

52768

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efr3a

Ensembl Gene

ENSMUSG00000015002

Gene Name

EFR3 homolog A

Synonyms

A130089M23Rik, D030063F01Rik, C920006C10Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

IGL01070

Quality Score

Status

Chromosome

Chromosomal Location

65787034-65873816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65853078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 507 (V507I)

Ref Sequence

ENSEMBL: ENSMUSP00000148418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015146] [ENSMUST00000173858] [ENSMUST00000211878]

AlphaFold

Q8BG67

Predicted Effect

probably benign
Transcript: ENSMUST00000015146
AA Change: V480I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: V480I

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	226	584	5e-4	SMART
low complexity region	709	720	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173858
AA Change: V480I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: V480I

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	226	584	8e-4	SMART
low complexity region	709	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174749

Predicted Effect

probably benign
Transcript: ENSMUST00000211878
AA Change: V507I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

unknown
Transcript: ENSMUST00000227340
AA Change: V58I

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adamts5	T	C	16: 85,863,133	H757R	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap3	A	T	6: 126,865,879	E487V	possibly damaging	Het
Bicd2	T	C	13: 49,378,316	S271P	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cma1	A	G	14: 55,942,697	S71P	probably benign	Het
Cspp1	T	C	1: 10,088,145	Y494H	probably damaging	Het
Cyp39a1	A	G	17: 43,683,022	K191R	probably benign	Het
Fam178b	C	T	1: 36,564,403	R489Q	possibly damaging	Het
Kcnj4	A	G	15: 79,484,579	L400P	probably benign	Het
Kif27	A	G	13: 58,344,093	Y411H	probably damaging	Het
Mstn	A	T	1: 53,061,997	I78L	possibly damaging	Het
Nrap	T	C	19: 56,329,084	D1377G	probably damaging	Het
Pramel5	T	G	4: 144,271,272	Y467S	probably damaging	Het
Prkg1	G	A	19: 30,569,343		probably benign	Het
Rbfox1	A	C	16: 7,306,443	S219R	possibly damaging	Het
Rfng	T	C	11: 120,783,952	N71D	probably damaging	Het
Rp1	T	C	1: 4,345,238	I1884V	probably damaging	Het
Rptn	T	A	3: 93,398,176	Y939N	possibly damaging	Het
Sart1	A	G	19: 5,383,951	V322A	probably benign	Het
Shank3	T	C	15: 89,549,416	S1455P	probably damaging	Het
Smc5	T	A	19: 23,231,601	R703W	possibly damaging	Het
Sptan1	G	A	2: 30,014,173		probably null	Het
Tecta	T	C	9: 42,395,003	D43G	probably damaging	Het
Tmem67	A	T	4: 12,054,750	M685K	probably benign	Het
Trac	A	G	14: 54,220,766	T82A	probably benign	Het
Trank1	A	G	9: 111,366,793	N1295S	probably damaging	Het
Ttc36	T	C	9: 44,801,590		probably null	Het
Utp18	A	T	11: 93,869,848	S384T	possibly damaging	Het
Vmn1r64	C	A	7: 5,883,942	A201S	probably benign	Het
Vmn2r26	A	T	6: 124,061,607	I714F	probably benign	Het
Vps54	T	A	11: 21,312,268	V626D	probably damaging	Het
Wapl	T	C	14: 34,745,622		probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het

Other mutations in Efr3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Efr3a	APN	15	65855417	missense	possibly damaging	0.66
IGL01366:Efr3a	APN	15	65851150	missense	probably benign	0.37
IGL01754:Efr3a	APN	15	65854720	missense	probably damaging	0.96
IGL02121:Efr3a	APN	15	65871150	splice site	probably benign
BB007:Efr3a	UTSW	15	65861740	missense	probably benign
BB017:Efr3a	UTSW	15	65861740	missense	probably benign
R0096:Efr3a	UTSW	15	65855441	missense	probably damaging	1.00
R0096:Efr3a	UTSW	15	65855441	missense	probably damaging	1.00
R0139:Efr3a	UTSW	15	65845981	missense	possibly damaging	0.58
R0449:Efr3a	UTSW	15	65842704	missense	probably damaging	1.00
R0786:Efr3a	UTSW	15	65853551	missense	possibly damaging	0.47
R0827:Efr3a	UTSW	15	65853551	missense	possibly damaging	0.70
R0843:Efr3a	UTSW	15	65837423	splice site	probably benign
R1433:Efr3a	UTSW	15	65869057	intron	probably benign
R1572:Efr3a	UTSW	15	65854792	critical splice donor site	probably null
R2290:Efr3a	UTSW	15	65849839	missense	probably benign	0.00
R2764:Efr3a	UTSW	15	65849770	missense	possibly damaging	0.94
R4170:Efr3a	UTSW	15	65845982	missense	probably damaging	0.98
R4368:Efr3a	UTSW	15	65866780	missense	possibly damaging	0.82
R4683:Efr3a	UTSW	15	65819801	missense	probably damaging	1.00
R4797:Efr3a	UTSW	15	65857588	missense	probably damaging	1.00
R5495:Efr3a	UTSW	15	65815409	missense	possibly damaging	0.73
R6262:Efr3a	UTSW	15	65857474	missense	possibly damaging	0.90
R6552:Efr3a	UTSW	15	65857490	missense	possibly damaging	0.52
R6825:Efr3a	UTSW	15	65829830	missense	probably benign	0.18
R6833:Efr3a	UTSW	15	65842686	missense	probably damaging	1.00
R6852:Efr3a	UTSW	15	65829830	missense	probably benign	0.18
R6853:Efr3a	UTSW	15	65829830	missense	probably benign	0.18
R6996:Efr3a	UTSW	15	65848181	nonsense	probably null
R7327:Efr3a	UTSW	15	65819778	missense	probably damaging	0.98
R7467:Efr3a	UTSW	15	65857511	missense	possibly damaging	0.65
R7549:Efr3a	UTSW	15	65815413	critical splice donor site	probably null
R7671:Efr3a	UTSW	15	65837434	critical splice acceptor site	probably null
R7810:Efr3a	UTSW	15	65787173	start gained	probably benign
R7830:Efr3a	UTSW	15	65829830	missense	probably benign	0.18
R7832:Efr3a	UTSW	15	65829830	missense	probably benign	0.18
R7900:Efr3a	UTSW	15	65848135	splice site	probably null
R7904:Efr3a	UTSW	15	65824678	missense	probably damaging	1.00
R7930:Efr3a	UTSW	15	65861740	missense	probably benign
R8115:Efr3a	UTSW	15	65866795	missense	probably damaging	1.00
R8244:Efr3a	UTSW	15	65815368	missense	probably damaging	1.00
R8388:Efr3a	UTSW	15	65866822	missense	probably benign	0.42
R8859:Efr3a	UTSW	15	65854765	missense	probably damaging	1.00

Posted On

2013-06-21