Mutagenetix > Incidental Mutation

Incidental Mutation 'R9732:Efr3a'

731502

Institutional Source

Beutler Lab

Gene Symbol

Efr3a

Ensembl Gene

ENSMUSG00000015002

Gene Name

EFR3 homolog A

Synonyms

C920006C10Rik, D030063F01Rik, A130089M23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R9732 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65658883-65745665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65720139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 378 (N378K)

Ref Sequence

ENSEMBL: ENSMUSP00000015146 (fasta)

Gene Model

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

AlphaFold

Q8BG67

Predicted Effect

probably benign
Transcript: ENSMUST00000015146
AA Change: N378K

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: N378K

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: N378K

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: N378K

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: N405K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000227340

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	T	4: 156,258,446 (GRCm39)	S1007T	probably benign	Het
Akap10	A	T	11: 61,787,545 (GRCm39)	C466S	probably damaging	Het
Apol9b	C	T	15: 77,619,566 (GRCm39)	P121S	possibly damaging	Het
Atr	T	A	9: 95,743,438 (GRCm39)	Y26N	probably damaging	Het
Cadm2	G	A	16: 66,528,297 (GRCm39)	T346I	probably benign	Het
Capn7	T	C	14: 31,090,031 (GRCm39)	I628T	probably damaging	Het
Cfap43	A	G	19: 47,775,446 (GRCm39)	S609P	probably damaging	Het
Chst2	C	T	9: 95,287,951 (GRCm39)	G132S	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Coq10a	A	G	10: 128,199,516 (GRCm39)	F253L	probably benign	Het
Cyp2t4	C	T	7: 26,854,657 (GRCm39)	P46S	probably damaging	Het
Ddx54	T	C	5: 120,763,911 (GRCm39)		probably null	Het
Dip2a	T	A	10: 76,110,077 (GRCm39)	I1180L	probably benign	Het
Dpp8	G	T	9: 64,970,862 (GRCm39)		probably null	Het
Etl4	C	T	2: 20,748,373 (GRCm39)	T237I	probably damaging	Het
Exo1	T	A	1: 175,727,065 (GRCm39)	S459T	probably benign	Het
Fam81b	G	A	13: 76,399,985 (GRCm39)	T91I	probably benign	Het
Fry	A	G	5: 150,328,758 (GRCm39)	E1297G	probably benign	Het
Gm11110	G	A	17: 57,410,382 (GRCm39)	L39F	unknown	Het
Gm3233	G	T	10: 77,595,147 (GRCm39)	Q124K	unknown	Het
Gm7145	C	G	1: 117,913,839 (GRCm39)	H240Q	probably benign	Het
Gnrh1	G	T	14: 67,985,316 (GRCm39)	R67L	possibly damaging	Het
Grip2	T	A	6: 91,761,686 (GRCm39)	E236V	probably damaging	Het
H3c10	A	T	13: 21,902,186 (GRCm39)	I120F	probably benign	Het
Hectd4	G	T	5: 121,392,254 (GRCm39)	E173*	probably null	Het
Hgf	T	A	5: 16,820,748 (GRCm39)	L632I	probably damaging	Het
Igsf11	T	C	16: 38,843,652 (GRCm39)	V255A	probably benign	Het
Jmjd4	G	T	11: 59,341,339 (GRCm39)		probably null	Het
Khdrbs3	C	A	15: 68,885,212 (GRCm39)	N71K	probably damaging	Het
Kif20b	A	G	19: 34,930,353 (GRCm39)	D1286G	probably benign	Het
Lpin3	T	A	2: 160,734,196 (GRCm39)	L27Q	probably damaging	Het
Macroh2a1	G	C	13: 56,243,976 (GRCm39)	F183L	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	T	A	14: 61,033,637 (GRCm39)	F184I	probably damaging	Het
Mst1	A	T	9: 107,959,425 (GRCm39)	D237V	possibly damaging	Het
Mycbp2	T	C	14: 103,448,749 (GRCm39)	D1803G	probably damaging	Het
Ncoa6	T	G	2: 155,244,636 (GRCm39)	K1978T	probably damaging	Het
Nkain4	G	A	2: 180,585,901 (GRCm39)	T54I	probably damaging	Het
Olig3	G	A	10: 19,233,151 (GRCm39)	A259T	probably benign	Het
Or5w14	T	C	2: 87,541,489 (GRCm39)	T254A	possibly damaging	Het
Pacs1	A	G	19: 5,184,997 (GRCm39)	W943R	probably damaging	Het
Pkp4	T	A	2: 59,138,797 (GRCm39)	L349Q	possibly damaging	Het
Polh	A	T	17: 46,498,997 (GRCm39)	H239Q	probably benign	Het
Ptprq	G	C	10: 107,412,767 (GRCm39)	C1777W	probably damaging	Het
Rhod	A	T	19: 4,476,740 (GRCm39)	V127E	probably damaging	Het
Rnf6	A	G	5: 146,152,931 (GRCm39)	S84P	probably benign	Het
Rundc3b	T	C	5: 8,562,406 (GRCm39)	T321A	probably damaging	Het
Rxfp2	G	A	5: 149,993,767 (GRCm39)	A620T	probably damaging	Het
Sacm1l	A	G	9: 123,381,863 (GRCm39)	E155G	probably benign	Het
Saxo5	C	T	8: 3,526,167 (GRCm39)	H107Y	possibly damaging	Het
Sdad1	A	T	5: 92,438,942 (GRCm39)	D471E	probably benign	Het
Sema6a	T	A	18: 47,381,925 (GRCm39)	N874I	probably damaging	Het
Serinc4	C	A	2: 121,283,631 (GRCm39)	W283L	possibly damaging	Het
Simc1	GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	13: 54,673,177 (GRCm39)		probably benign	Het
Slc24a3	A	T	2: 145,458,591 (GRCm39)	S524C	probably damaging	Het
Slc4a10	T	G	2: 62,135,086 (GRCm39)	S1042R	probably damaging	Het
Smg7	A	T	1: 152,736,212 (GRCm39)	V190D	probably damaging	Het
Sub1	T	A	15: 11,986,650 (GRCm39)	I66F	possibly damaging	Het
Svop	G	A	5: 114,201,142 (GRCm39)	P109S	probably damaging	Het
Synj1	G	A	16: 90,761,414 (GRCm39)	P684L	probably damaging	Het
Synm	A	G	7: 67,385,652 (GRCm39)	V670A	probably damaging	Het
Tep1	T	C	14: 51,088,162 (GRCm39)	I792V	probably benign	Het
Tex22	A	G	12: 113,052,196 (GRCm39)	T85A	possibly damaging	Het
Tmem151a	C	T	19: 5,131,937 (GRCm39)	S423N	probably damaging	Het
Tnks1bp1	T	A	2: 84,889,727 (GRCm39)	W685R	probably damaging	Het
Top3a	A	G	11: 60,640,391 (GRCm39)	F436L	probably benign	Het
Trim55	A	T	3: 19,716,039 (GRCm39)	I200F	probably damaging	Het
Trpv6	T	A	6: 41,603,862 (GRCm39)	R186*	probably null	Het
Ttc6	G	A	12: 57,775,335 (GRCm39)	C1677Y	probably benign	Het
Ttn	C	T	2: 76,769,206 (GRCm39)	V2831I	unknown	Het
Tyrp1	T	A	4: 80,758,930 (GRCm39)	S268T	possibly damaging	Het
Unc5d	C	T	8: 29,381,319 (GRCm39)		probably null	Het
Usb1	G	T	8: 96,065,375 (GRCm39)	V129L	probably damaging	Het
Usp22	G	A	11: 61,051,437 (GRCm39)	T302M	probably damaging	Het
Vmn1r210	C	A	13: 23,011,379 (GRCm39)	L302F	possibly damaging	Het
Zfp689	C	A	7: 127,044,283 (GRCm39)	E116*	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
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

Predicted Primers

PCR Primer
(F):5'- CTGAGCAGTTTAAGAGTCACTCTCG -3'
(R):5'- GCCTAAAGTGTCAACAGCAGG -3'

Sequencing Primer
(F):5'- AAGAGTCACTCTCGGGTCTAG -3'
(R):5'- TGTCAACAGCAGGCACAAATG -3'

Posted On

2022-11-14