Mutagenetix > Incidental Mutation

Incidental Mutation 'R8115:Efr3a'

631158

Institutional Source

Beutler Lab

Gene Symbol

Efr3a

Ensembl Gene

ENSMUSG00000015002

Gene Name

EFR3 homolog A

Synonyms

C920006C10Rik, D030063F01Rik, A130089M23Rik

MMRRC Submission

067544-MU

Accession Numbers

Essential gene?

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

Stock #

R8115 (G1)

Quality Score

127.008

Status

Validated

Chromosome

Chromosomal Location

65658883-65745665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65738644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 758 (F758I)

Ref Sequence

ENSEMBL: ENSMUSP00000015146 (fasta)

Gene Model

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

AlphaFold

Q8BG67

Predicted Effect

probably damaging
Transcript: ENSMUST00000015146
AA Change: F758I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: F758I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173858
AA Change: F758I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: F758I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211878
AA Change: F785I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.4%
20x: 94.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,996 (GRCm39)	I211L	probably benign	Het
Abhd16b	G	A	2: 181,135,527 (GRCm39)	R143H	possibly damaging	Het
Abt1	T	C	13: 23,606,402 (GRCm39)	E184G	probably damaging	Het
Aqp1	AGG	AGGG	6: 55,322,498 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,642 (GRCm39)	R877Q	probably damaging	Het
B3galt1	A	G	2: 67,948,320 (GRCm39)	T12A	possibly damaging	Het
Bcat1	G	A	6: 144,955,819 (GRCm39)	P354L	probably damaging	Het
C9orf72	T	C	4: 35,218,763 (GRCm39)	Y32C		Het
Cad	T	C	5: 31,218,271 (GRCm39)	F452L	possibly damaging	Het
Cadps2	T	A	6: 23,328,897 (GRCm39)	I973F	probably benign	Het
Cenpq	T	C	17: 41,243,720 (GRCm39)	N43D	probably damaging	Het
Chd9	G	T	8: 91,762,960 (GRCm39)	V2262L	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,402 (GRCm39)	Q161K	probably damaging	Het
D630003M21Rik	A	T	2: 158,058,510 (GRCm39)	H463Q	probably benign	Het
Defb1	C	T	8: 22,284,500 (GRCm39)	H40Y	probably benign	Het
Dmrtb1	A	T	4: 107,534,256 (GRCm39)	D186E	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fap	A	G	2: 62,349,385 (GRCm39)	I501T	probably benign	Het
Galr3	C	T	15: 78,927,524 (GRCm39)	R322*	probably null	Het
Hrnr	C	A	3: 93,231,039 (GRCm39)	R426S	unknown	Het
Hsp90ab1	A	T	17: 45,880,201 (GRCm39)	M476K	possibly damaging	Het
Igsf3	G	T	3: 101,362,595 (GRCm39)	R872L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Iqsec3	T	G	6: 121,449,989 (GRCm39)	R178S	unknown	Het
Itgbl1	T	C	14: 124,094,955 (GRCm39)	C327R	probably damaging	Het
Itsn2	A	T	12: 4,723,602 (GRCm39)	Q1179L	possibly damaging	Het
Kcnb2	T	C	1: 15,781,851 (GRCm39)	*908R	probably null	Het
Kdm5b	G	T	1: 134,547,411 (GRCm39)	W1020L	possibly damaging	Het
Kpna3	C	A	14: 61,608,367 (GRCm39)	V364L	probably damaging	Het
Lsm14a	T	C	7: 34,074,662 (GRCm39)	I93V	probably benign	Het
Mast2	A	G	4: 116,292,644 (GRCm39)	S109P	probably benign	Het
Muc4	G	A	16: 32,575,678 (GRCm39)	S1726N	unknown	Het
Myo7a	T	C	7: 97,715,653 (GRCm39)	D1477G	probably damaging	Het
Nostrin	G	A	2: 69,011,264 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,074,996 (GRCm39)	V352E	probably damaging	Het
Or9a2	T	A	6: 41,748,472 (GRCm39)	T254S	probably benign	Het
Pafah1b1	A	G	11: 74,575,319 (GRCm39)	V195A	probably damaging	Het
Pcdhb4	G	A	18: 37,442,453 (GRCm39)	V588M	probably damaging	Het
Pcsk5	A	G	19: 17,487,530 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,756,707 (GRCm39)	I428V	unknown	Het
Pmfbp1	G	A	8: 110,263,669 (GRCm39)	V824M	probably damaging	Het
Prkag3	T	C	1: 74,787,118 (GRCm39)	R47G	possibly damaging	Het
Prl8a1	T	A	13: 27,758,028 (GRCm39)	H227L	probably benign	Het
Prune2	A	G	19: 17,101,288 (GRCm39)	D2264G	probably benign	Het
Psg28	A	G	7: 18,164,311 (GRCm39)	Y134H	probably benign	Het
Rab3gap2	T	A	1: 184,999,447 (GRCm39)	Y1019N	possibly damaging	Het
Rbm15	A	T	3: 107,238,966 (GRCm39)	F477L	probably damaging	Het
Ric1	A	T	19: 29,563,973 (GRCm39)	N576Y	probably damaging	Het
S1pr1	T	A	3: 115,506,298 (GRCm39)	T99S	probably benign	Het
Serpinb9b	G	T	13: 33,219,531 (GRCm39)	V153F	probably null	Het
Sh2d3c	A	G	2: 32,615,276 (GRCm39)	E122G	probably benign	Het
Slc6a11	T	A	6: 114,108,442 (GRCm39)	W69R	probably damaging	Het
Slco6c1	T	A	1: 97,000,686 (GRCm39)	I539F	probably damaging	Het
Smgc	G	T	15: 91,733,322 (GRCm39)		probably null	Het
Spata17	T	C	1: 186,849,653 (GRCm39)	Y194C	probably damaging	Het
Tap1	A	T	17: 34,412,293 (GRCm39)		probably null	Het
Topbp1	T	C	9: 103,197,740 (GRCm39)	S440P	probably benign	Het
Trpc6	T	C	9: 8,609,982 (GRCm39)	L150P	probably damaging	Het
Ttll4	C	T	1: 74,726,489 (GRCm39)	Q696*	probably null	Het
Ubash3b	C	T	9: 40,937,624 (GRCm39)	E447K	probably damaging	Het
Unc5cl	T	C	17: 48,774,438 (GRCm39)	S477P	possibly damaging	Het
Unc80	A	G	1: 66,688,072 (GRCm39)	T2357A	probably benign	Het
Vmn1r58	A	T	7: 5,413,341 (GRCm39)	S296R	probably benign	Het
Vmn2r85	G	T	10: 130,261,820 (GRCm39)	N172K	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Yipf7	T	A	5: 69,684,570 (GRCm39)	T82S	probably benign	Het
Zap70	A	G	1: 36,820,287 (GRCm39)	S523G	probably damaging	Het
Zfp354a	A	G	11: 50,960,490 (GRCm39)	T233A	probably benign	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
R7810:Efr3a	UTSW	15	65,659,022 (GRCm39)	start gained	probably benign
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
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'- CATTGTGCTGTGGAGCTTTAAC -3'
(R):5'- GCCTCATCACAGGAATGCATTC -3'

Sequencing Primer
(F):5'- GCTGTGGAGCTTTAACTCTTTC -3'
(R):5'- CCTCATCACAGGAATGCATTCTTTAG -3'

Posted On

2020-06-30