Mutagenetix > Incidental Mutations

Incidental Mutation 'R7671:Efr3a'

592181

Institutional Source

Beutler Lab

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: 0.432) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65787034-65873816 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to A at 65837434 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000015146 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000015146

SMART Domains

Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002

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

Predicted Effect

probably null
Transcript: ENSMUST00000015146

SMART Domains

Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002

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

Predicted Effect

probably null
Transcript: ENSMUST00000173858

SMART Domains

Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002

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

Predicted Effect

probably null
Transcript: ENSMUST00000211878

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly damaging	Het

Other mutations in Efr3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Efr3a	APN	15	65855417	missense	possibly damaging	0.66
IGL01070:Efr3a	APN	15	65853078	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTAGCTCTGAGCATGCTAAG -3'
(R):5'- GGCAAGTGATGTAGTACATGGTATTC -3'

Sequencing Primer
(F):5'- CTCTGAGCATGCTAAGTTCATG -3'
(R):5'- GGATGCCCAATGTGACCTTCATG -3'

Posted On

2019-11-12