Mutagenetix > Incidental Mutation

Incidental Mutation 'R7930:Efr3a'

643556

Institutional Source

Beutler Lab

Gene Symbol

Efr3a

Ensembl Gene

ENSMUSG00000015002

Gene Name

EFR3 homolog A

Synonyms

C920006C10Rik, D030063F01Rik, A130089M23Rik

MMRRC Submission

045977-MU

Accession Numbers

Essential gene?

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

Stock #

R7930 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

65658883-65745665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65733589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 716 (D716E)

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: D716E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: D716E

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: D716E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: D716E

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: ENSMUST00000211878
AA Change: D743E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ahnak2	T	C	12: 112,745,560 (GRCm39)	E629G		Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
Dusp9	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	X: 72,684,128 (GRCm39)		probably benign	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm7876	A	T	14: 4,711,357 (GRCm38)	I124L	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Muc4	C	CTAG	16: 32,575,369 (GRCm39)		probably benign	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	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
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'- CAAAGTTGAGAATGCACTGCTG -3'
(R):5'- ATGGGCAGTTGAAATGGCTTC -3'

Sequencing Primer
(F):5'- TTTAGAAAGAACAACTCCACTCTCC -3'
(R):5'- CCCAGTTATAGGTGTGAAGG -3'

Posted On

2020-08-07