Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Efr3a'

601128

Institutional Source

Beutler Lab

Gene Symbol

Efr3a

Ensembl Gene

ENSMUSG00000015002

Gene Name

EFR3 homolog A

Synonyms

C920006C10Rik, D030063F01Rik, A130089M23Rik

MMRRC Submission

045865-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.410) question?

Stock #

R7810 (G1)

Quality Score

94.0077

Status

Validated

Chromosome

Chromosomal Location

65658883-65745665 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 65659022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015146] [ENSMUST00000172756] [ENSMUST00000173858] [ENSMUST00000174856]

AlphaFold

Q8BG67

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000172756

SMART Domains

Protein: ENSMUSP00000134683
Gene: ENSMUSG00000015002

Domain	Start	End	E-Value	Type
PDB:4N5A\|A	10	112	3e-6	PDB

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000174856

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,045 (GRCm39)	E200G	probably benign	Het
Ankfy1	C	T	11: 72,645,281 (GRCm39)	Q787*	probably null	Het
Birc6	T	A	17: 74,855,815 (GRCm39)	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,539,157 (GRCm39)		probably null	Het
Cabp5	T	A	7: 13,132,263 (GRCm39)	F11I	possibly damaging	Het
Ccdc88a	T	C	11: 29,435,964 (GRCm39)	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,826,454 (GRCm39)	V1087A	probably benign	Het
Cct3	C	T	3: 88,228,442 (GRCm39)	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,457,658 (GRCm39)	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,983,546 (GRCm39)	E487G	probably damaging	Het
Chd5	A	G	4: 152,443,032 (GRCm39)	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,941,122 (GRCm39)	H286L	possibly damaging	Het
Dnai7	T	G	6: 145,140,312 (GRCm39)	D163A	probably benign	Het
Fastkd2	T	A	1: 63,770,851 (GRCm39)	I69N	possibly damaging	Het
Flg2	T	C	3: 93,107,548 (GRCm39)	I11T	possibly damaging	Het
Folr2	T	C	7: 101,490,102 (GRCm39)	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786 (GRCm39)	F360S	probably damaging	Het
Galr2	T	C	11: 116,173,946 (GRCm39)	V192A	probably benign	Het
Gas6	A	T	8: 13,516,809 (GRCm39)	I563N	probably damaging	Het
Gbe1	T	C	16: 70,324,085 (GRCm39)	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,619,608 (GRCm39)	H423Y	probably damaging	Het
Gm6902	T	C	7: 22,973,243 (GRCm39)	T95A	probably benign	Het
Gpr155	G	T	2: 73,212,296 (GRCm39)	A109D	probably damaging	Het
Hsdl1	T	C	8: 120,294,711 (GRCm39)	D5G	probably damaging	Het
Hyal1	C	T	9: 107,455,628 (GRCm39)	P313S	probably damaging	Het
Igfn1	G	A	1: 135,902,527 (GRCm39)	T390M	probably damaging	Het
Irx1	C	A	13: 72,107,917 (GRCm39)	R255L	probably benign	Het
Itga2	T	A	13: 115,002,715 (GRCm39)	T592S	probably benign	Het
Kit	C	A	5: 75,769,982 (GRCm39)	S131R	probably benign	Het
Map1b	T	C	13: 99,568,390 (GRCm39)	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,219,496 (GRCm39)	E112K	probably benign	Het
Marveld3	T	C	8: 110,681,266 (GRCm39)	I210V	probably damaging	Het
Masp1	T	A	16: 23,295,068 (GRCm39)	I398L	probably benign	Het
Mmrn1	T	C	6: 60,953,309 (GRCm39)	I530T	probably benign	Het
Mtss2	A	G	8: 111,452,833 (GRCm39)	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,067,747 (GRCm39)	S600R	probably benign	Het
Myo5a	A	G	9: 75,076,292 (GRCm39)	I836V	probably benign	Het
Naaladl1	A	G	19: 6,159,694 (GRCm39)	D375G	probably damaging	Het
Napepld	T	A	5: 21,888,263 (GRCm39)	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,465,483 (GRCm39)	I719S	possibly damaging	Het
Nes	T	A	3: 87,882,923 (GRCm39)	M394K	probably benign	Het
Nlrc5	A	T	8: 95,231,772 (GRCm39)	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 106,791,782 (GRCm39)	C822*	probably null	Het
Noa1	A	C	5: 77,457,071 (GRCm39)	L278R	probably damaging	Het
Nop16	A	G	13: 54,737,889 (GRCm39)		probably benign	Het
Odr4	T	C	1: 150,268,659 (GRCm39)		probably benign	Het
Or11h7	A	T	14: 50,891,450 (GRCm39)	Y252F	probably benign	Het
Or5b12	A	G	19: 12,897,229 (GRCm39)	V148A	probably benign	Het
Osbpl10	C	T	9: 114,890,962 (GRCm39)	H117Y	probably benign	Het
Oxct1	A	T	15: 4,077,058 (GRCm39)	E130D	probably benign	Het
Padi2	A	G	4: 140,676,575 (GRCm39)	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Pdcd11	G	A	19: 47,086,659 (GRCm39)	E222K	possibly damaging	Het
Pira12	C	A	7: 3,897,204 (GRCm39)	C544F	probably damaging	Het
Plekha2	A	G	8: 25,578,356 (GRCm39)		probably null	Het
Pogz	T	C	3: 94,777,418 (GRCm39)	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,138,086 (GRCm39)	I145V	probably benign	Het
Prkcd	A	G	14: 30,320,407 (GRCm39)		probably null	Het
Ptprk	T	A	10: 28,468,853 (GRCm39)	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,842,650 (GRCm39)	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,961,938 (GRCm39)	H116L	probably damaging	Het
Sdk1	A	G	5: 141,923,434 (GRCm39)	T352A	probably benign	Het
Septin9	T	A	11: 117,250,264 (GRCm39)	C529*	probably null	Het
Setx	T	A	2: 29,038,663 (GRCm39)	V1716D	probably benign	Het
Slc19a3	C	T	1: 82,997,162 (GRCm39)	V349I	probably benign	Het
Slc27a4	C	A	2: 29,695,722 (GRCm39)	R86S	probably benign	Het
Slc4a8	A	G	15: 100,696,059 (GRCm39)	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,545,884 (GRCm39)	R58G	probably damaging	Het
Sphkap	T	A	1: 83,254,021 (GRCm39)	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,996,720 (GRCm39)	S261P	unknown	Het
Tab1	A	T	15: 80,042,999 (GRCm39)	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,934,705 (GRCm39)	T35S	probably benign	Het
Tasor2	T	C	13: 3,625,714 (GRCm39)	K1412R	possibly damaging	Het
Tigd4	T	A	3: 84,502,310 (GRCm39)	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,510,501 (GRCm39)	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,733,145 (GRCm39)	C894S	unknown	Het
Topaz1	T	A	9: 122,578,250 (GRCm39)	S387T	probably benign	Het
Tsfm	T	C	10: 126,847,558 (GRCm39)	R178G	probably benign	Het
Ttll13	T	C	7: 79,902,875 (GRCm39)	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,610,896 (GRCm39)	K97N		Het
Ubr4	A	G	4: 139,142,394 (GRCm39)	E38G		Het
Ugt2b37	T	C	5: 87,402,118 (GRCm39)	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,601,020 (GRCm39)	M935I	probably benign	Het
Usp34	T	C	11: 23,362,314 (GRCm39)	S1606P		Het
Vmn1r195	T	C	13: 22,463,244 (GRCm39)	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,261,081 (GRCm39)	M419L	probably benign	Het
Washc2	G	T	6: 116,236,020 (GRCm39)	A1164S	probably benign	Het
Wdfy3	A	T	5: 102,042,940 (GRCm39)	M1937K	probably benign	Het
Wdfy3	A	T	5: 102,099,265 (GRCm39)	L261*	probably null	Het
Wdr64	A	T	1: 175,559,092 (GRCm39)	Y285F	probably benign	Het
Wtap	A	G	17: 13,199,797 (GRCm39)	L62P	probably damaging	Het
Zfp1007	A	C	5: 109,825,170 (GRCm39)	Y93*	probably null	Het
Zfp94	C	A	7: 24,002,498 (GRCm39)	V315F	probably benign	Het
Zhx1	A	T	15: 57,911,798 (GRCm39)		probably null	Het

Other mutations in Efr3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Efr3a	APN	15	65,727,266 (GRCm39)	missense	possibly damaging	0.66
IGL01070:Efr3a	APN	15	65,724,927 (GRCm39)	missense	probably benign
IGL01366:Efr3a	APN	15	65,722,999 (GRCm39)	missense	probably benign	0.37
IGL01754:Efr3a	APN	15	65,726,569 (GRCm39)	missense	probably damaging	0.96
IGL02121:Efr3a	APN	15	65,742,999 (GRCm39)	splice site	probably benign
BB007:Efr3a	UTSW	15	65,733,589 (GRCm39)	missense	probably benign
BB017:Efr3a	UTSW	15	65,733,589 (GRCm39)	missense	probably benign
R0096:Efr3a	UTSW	15	65,727,290 (GRCm39)	missense	probably damaging	1.00
R0096:Efr3a	UTSW	15	65,727,290 (GRCm39)	missense	probably damaging	1.00
R0139:Efr3a	UTSW	15	65,717,830 (GRCm39)	missense	possibly damaging	0.58
R0449:Efr3a	UTSW	15	65,714,553 (GRCm39)	missense	probably damaging	1.00
R0786:Efr3a	UTSW	15	65,725,400 (GRCm39)	missense	possibly damaging	0.47
R0827:Efr3a	UTSW	15	65,725,400 (GRCm39)	missense	possibly damaging	0.70
R0843:Efr3a	UTSW	15	65,709,272 (GRCm39)	splice site	probably benign
R1433:Efr3a	UTSW	15	65,740,906 (GRCm39)	intron	probably benign
R1572:Efr3a	UTSW	15	65,726,641 (GRCm39)	critical splice donor site	probably null
R2290:Efr3a	UTSW	15	65,721,688 (GRCm39)	missense	probably benign	0.00
R2764:Efr3a	UTSW	15	65,721,619 (GRCm39)	missense	possibly damaging	0.94
R4170:Efr3a	UTSW	15	65,717,831 (GRCm39)	missense	probably damaging	0.98
R4368:Efr3a	UTSW	15	65,738,629 (GRCm39)	missense	possibly damaging	0.82
R4683:Efr3a	UTSW	15	65,691,650 (GRCm39)	missense	probably damaging	1.00
R4797:Efr3a	UTSW	15	65,729,437 (GRCm39)	missense	probably damaging	1.00
R5495:Efr3a	UTSW	15	65,687,258 (GRCm39)	missense	possibly damaging	0.73
R6262:Efr3a	UTSW	15	65,729,323 (GRCm39)	missense	possibly damaging	0.90
R6552:Efr3a	UTSW	15	65,729,339 (GRCm39)	missense	possibly damaging	0.52
R6825:Efr3a	UTSW	15	65,701,679 (GRCm39)	missense	probably benign	0.18
R6833:Efr3a	UTSW	15	65,714,535 (GRCm39)	missense	probably damaging	1.00
R6852:Efr3a	UTSW	15	65,701,679 (GRCm39)	missense	probably benign	0.18
R6853:Efr3a	UTSW	15	65,701,679 (GRCm39)	missense	probably benign	0.18
R6996:Efr3a	UTSW	15	65,720,030 (GRCm39)	nonsense	probably null
R7327:Efr3a	UTSW	15	65,691,627 (GRCm39)	missense	probably damaging	0.98
R7467:Efr3a	UTSW	15	65,729,360 (GRCm39)	missense	possibly damaging	0.65
R7549:Efr3a	UTSW	15	65,687,262 (GRCm39)	critical splice donor site	probably null
R7671:Efr3a	UTSW	15	65,709,283 (GRCm39)	critical splice acceptor site	probably null
R7830:Efr3a	UTSW	15	65,701,679 (GRCm39)	missense	probably benign	0.18
R7832:Efr3a	UTSW	15	65,701,679 (GRCm39)	missense	probably benign	0.18
R7900:Efr3a	UTSW	15	65,719,984 (GRCm39)	splice site	probably null
R7904:Efr3a	UTSW	15	65,696,527 (GRCm39)	missense	probably damaging	1.00
R7930:Efr3a	UTSW	15	65,733,589 (GRCm39)	missense	probably benign
R8115:Efr3a	UTSW	15	65,738,644 (GRCm39)	missense	probably damaging	1.00
R8244:Efr3a	UTSW	15	65,687,217 (GRCm39)	missense	probably damaging	1.00
R8388:Efr3a	UTSW	15	65,738,671 (GRCm39)	missense	probably benign	0.42
R8859:Efr3a	UTSW	15	65,726,614 (GRCm39)	missense	probably damaging	1.00
R9732:Efr3a	UTSW	15	65,720,139 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AGTTAAAACAGCCAGCCTTCCTG -3'
(R):5'- TCAAACTAAGGCAGCACAGG -3'

Sequencing Primer
(F):5'- TGCCCACTCTGCAGGTAAG -3'
(R):5'- CGTCAGTTCCCGTAACGC -3'

Posted On

2019-11-26