Mutagenetix > Incidental Mutation

Incidental Mutation 'R7467:Efr3a'

578900

Institutional Source

Beutler Lab

Gene Symbol

Efr3a

Ensembl Gene

ENSMUSG00000015002

Gene Name

EFR3 homolog A

Synonyms

C920006C10Rik, D030063F01Rik, A130089M23Rik

MMRRC Submission

045541-MU

Accession Numbers

Essential gene?

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

Stock #

R7467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65658883-65745665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65729360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 660 (T660I)

Ref Sequence

ENSEMBL: ENSMUSP00000015146 (fasta)

Gene Model

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

AlphaFold

Q8BG67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015146
AA Change: T660I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: T660I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173858
AA Change: T660I

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: T660I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211878
AA Change: T687I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000227340

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (103/105)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 56,098,952 (GRCm39)	V153I	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Aldh16a1	A	G	7: 44,795,331 (GRCm39)	Y443H	probably benign	Het
Apbb1	A	G	7: 105,215,339 (GRCm39)	V434A	probably benign	Het
Atrip	A	G	9: 108,898,422 (GRCm39)	M199T	probably damaging	Het
Atxn2	T	C	5: 121,940,330 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,708,103 (GRCm39)	T240A	probably benign	Het
Btf3l4	A	T	4: 108,675,589 (GRCm39)		probably null	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Cdk15	G	T	1: 59,328,938 (GRCm39)	W282L	probably null	Het
Cflar	T	A	1: 58,765,597 (GRCm39)	M1K	probably null	Het
Champ1	C	A	8: 13,928,579 (GRCm39)	P246T	possibly damaging	Het
Crat	A	C	2: 30,299,994 (GRCm39)	F129V	probably damaging	Het
Csmd3	T	C	15: 47,492,640 (GRCm39)	N2256S		Het
Cwh43	C	A	5: 73,569,311 (GRCm39)	Q118K	probably damaging	Het
Daam1	A	T	12: 72,032,580 (GRCm39)	K949*	probably null	Het
Ddn	C	G	15: 98,703,247 (GRCm39)	E682Q	possibly damaging	Het
Des	T	A	1: 75,339,605 (GRCm39)	M321K	possibly damaging	Het
Dnm2	T	C	9: 21,392,672 (GRCm39)	V460A	probably damaging	Het
Dst	G	A	1: 34,230,236 (GRCm39)	E2610K	probably benign	Het
Eogt	T	C	6: 97,119,794 (GRCm39)	E138G	probably benign	Het
Epha8	G	A	4: 136,658,399 (GRCm39)	A992V	possibly damaging	Het
Exoc2	A	T	13: 31,109,716 (GRCm39)	D217E	probably damaging	Het
Fam222b	T	C	11: 78,045,173 (GRCm39)	S245P	probably damaging	Het
Fbxo45	T	C	16: 32,057,339 (GRCm39)	Y185C	probably damaging	Het
Fbxo47	T	C	11: 97,755,993 (GRCm39)	T170A	probably benign	Het
Fbxw26	A	T	9: 109,561,765 (GRCm39)	V143E	probably benign	Het
Foxb2	T	C	19: 16,851,004 (GRCm39)	M1V	probably null	Het
Gm11596	C	A	11: 99,683,962 (GRCm39)	V53L	unknown	Het
Gm47791	A	G	1: 82,748,547 (GRCm39)	*140Q	probably null	Het
Gpr179	C	T	11: 97,226,115 (GRCm39)	M2013I	probably benign	Het
Hck	T	A	2: 152,971,850 (GRCm39)	L137*	probably null	Het
Hectd4	T	A	5: 121,462,024 (GRCm39)	C964S	possibly damaging	Het
Hexa	T	C	9: 59,464,683 (GRCm39)		probably null	Het
Ifna12	C	A	4: 88,521,502 (GRCm39)	S15I	possibly damaging	Het
Kif18b	C	A	11: 102,807,234 (GRCm39)	V34L	probably damaging	Het
Kif18b	A	T	11: 102,803,174 (GRCm39)		probably null	Het
Kifap3	A	T	1: 163,643,402 (GRCm39)	H209L	probably benign	Het
Klhl1	A	T	14: 96,360,713 (GRCm39)	D712E	probably damaging	Het
Kmt2c	T	C	5: 25,513,530 (GRCm39)	D3088G	probably damaging	Het
Mageb3	A	G	2: 121,784,953 (GRCm39)	Y250H	probably damaging	Het
Manba	G	T	3: 135,250,562 (GRCm39)	E396D	probably damaging	Het
Mapkbp1	T	A	2: 119,852,669 (GRCm39)	V997E	probably damaging	Het
Mdc1	A	G	17: 36,155,448 (GRCm39)	H41R	probably benign	Het
Mis18a	T	G	16: 90,516,866 (GRCm39)	M179L	probably benign	Het
Mmp25	C	G	17: 23,863,756 (GRCm39)	G25R	possibly damaging	Het
Mmp3	A	G	9: 7,447,621 (GRCm39)	D202G	possibly damaging	Het
Mmp3	C	T	9: 7,450,125 (GRCm39)	P286S	probably benign	Het
Mrgpra2b	G	A	7: 47,114,277 (GRCm39)	H152Y	possibly damaging	Het
Mslnl	A	T	17: 25,955,895 (GRCm39)	M1L	probably benign	Het
Myo1d	G	A	11: 80,477,743 (GRCm39)	T880I	probably damaging	Het
Ncaph	T	A	2: 126,975,795 (GRCm39)		probably benign	Het
Nln	T	C	13: 104,161,530 (GRCm39)	D680G	possibly damaging	Het
Noct	C	T	3: 51,132,622 (GRCm39)	A33V	probably benign	Het
Nolc1	A	G	19: 46,070,773 (GRCm39)	T325A	unknown	Het
Nr2e3	A	G	9: 59,856,434 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,155,459 (GRCm39)	H450L	probably benign	Het
Or13a21	T	C	7: 139,999,287 (GRCm39)	N133S	probably benign	Het
Or2t43	A	C	11: 58,457,288 (GRCm39)	N294K	possibly damaging	Het
Or5ak24	T	G	2: 85,261,171 (GRCm39)	M1L	possibly damaging	Het
Or5an1	T	A	19: 12,260,839 (GRCm39)	C142*	probably null	Het
Or6b3	T	A	1: 92,439,570 (GRCm39)	Y60F	possibly damaging	Het
Pank2	T	A	2: 131,115,967 (GRCm39)	N128K	possibly damaging	Het
Pcdha3	T	C	18: 37,080,584 (GRCm39)	V442A	probably damaging	Het
Pds5b	T	A	5: 150,659,792 (GRCm39)	S252T	probably damaging	Het
Pfpl	T	C	19: 12,405,878 (GRCm39)	L43S	probably damaging	Het
Pigu	T	A	2: 155,141,009 (GRCm39)	I295F	probably damaging	Het
Piwil4	T	C	9: 14,616,337 (GRCm39)	Y673C	probably damaging	Het
Pls1	A	G	9: 95,651,166 (GRCm39)	Y414H	possibly damaging	Het
Ppp1r13l	A	T	7: 19,105,305 (GRCm39)	Q359L	probably damaging	Het
Ppp2r5c	A	G	12: 110,519,317 (GRCm39)	Y263C	probably damaging	Het
Prrc2c	A	T	1: 162,504,932 (GRCm39)	S2638R	possibly damaging	Het
Prss39	T	A	1: 34,538,473 (GRCm39)		probably null	Het
Psmd1	G	A	1: 86,044,355 (GRCm39)	V648M	probably damaging	Het
Rad50	T	C	11: 53,545,735 (GRCm39)	D1196G	probably damaging	Het
Rfx1	T	C	8: 84,800,542 (GRCm39)	Y48H	possibly damaging	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rpl9	T	C	5: 65,548,310 (GRCm39)	T9A	probably benign	Het
Samd4	A	G	14: 47,325,313 (GRCm39)	N598D	probably benign	Het
Sema7a	T	C	9: 57,868,705 (GRCm39)	Y606H	probably damaging	Het
Sf3b3	A	G	8: 111,538,088 (GRCm39)	S1150P	possibly damaging	Het
Sirt1	T	C	10: 63,157,929 (GRCm39)	N495S	probably benign	Het
Slc17a3	T	C	13: 24,030,950 (GRCm39)		probably null	Het
Slc25a22	T	C	7: 141,013,889 (GRCm39)	T24A	probably benign	Het
Slc30a9	T	C	5: 67,502,987 (GRCm39)	I363T	probably benign	Het
Srbd1	A	G	17: 86,406,702 (GRCm39)	V561A	probably damaging	Het
Srgap1	C	A	10: 121,691,344 (GRCm39)	E297*	probably null	Het
Srgap2	T	C	1: 131,220,405 (GRCm39)	S896G	probably damaging	Het
Sspo	T	C	6: 48,463,237 (GRCm39)	C3730R	probably damaging	Het
Stat2	T	A	10: 128,113,772 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,977 (GRCm39)	K581E	unknown	Het
Tdpoz6	T	A	3: 93,600,265 (GRCm39)	T35S	probably benign	Het
Thbs1	T	C	2: 117,948,681 (GRCm39)	S446P	probably damaging	Het
Thsd7a	T	C	6: 12,331,584 (GRCm39)	Y1330C		Het
Tmem121	C	A	12: 113,152,690 (GRCm39)	P303T	probably benign	Het
Tmem87b	T	A	2: 128,691,071 (GRCm39)		probably null	Het
Tmem98	A	T	11: 80,711,011 (GRCm39)		probably null	Het
Trpm3	T	A	19: 22,955,698 (GRCm39)	I1091N	possibly damaging	Het
Urb2	A	G	8: 124,755,250 (GRCm39)	E319G	probably benign	Het
Vmn1r170	A	T	7: 23,306,320 (GRCm39)	M241L	not run	Het
Vmn1r238	T	C	18: 3,123,393 (GRCm39)	N7S	probably benign	Het
Wdr6	T	C	9: 108,450,201 (GRCm39)	H1109R	probably benign	Het
Zdhhc13	T	C	7: 48,454,156 (GRCm39)	V193A	probably benign	Het
Zfp354c	T	C	11: 50,706,253 (GRCm39)	Y274C	probably damaging	Het
Zfp738	T	A	13: 67,821,080 (GRCm39)	E89V	probably benign	Het
Zswim3	T	A	2: 164,661,795 (GRCm39)	F92I	possibly damaging	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
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
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'- TGACACCAGGGATTTGCTCAC -3'
(R):5'- GCTTTGGGCCTGAAGAAAAGAC -3'

Sequencing Primer
(F):5'- CCAGGGATTTGCTCACTTAAAAC -3'
(R):5'- GGCACATAAGGAACTGTC -3'

Posted On

2019-10-07