Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:G2e3'

228644

Institutional Source

Beutler Lab

Gene Symbol

G2e3

Ensembl Gene

ENSMUSG00000035293

Gene Name

G2/M-phase specific E3 ubiquitin ligase

Synonyms

D930034K21Rik, 6030408C04Rik

MMRRC Submission

040065-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.689) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51395013-51423769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51419389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 702 (F702L)

Ref Sequence

ENSEMBL: ENSMUSP00000113270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000054308] [ENSMUST00000119211] [ENSMUST00000121521] [ENSMUST00000219434]

AlphaFold

Q5RJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000021335

SMART Domains

Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952

Domain	Start	End	E-Value	Type
Pfam:Sec1	41	632	1.6e-109	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000054308
AA Change: F679L

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

SMART Domains

Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
AA Change: F679L

Domain	Start	End	E-Value	Type
SCOP:d1bqk__	2	74	1e-2	SMART
PHD	80	128	5.2e-3	SMART
RING	81	115	5.28e0	SMART
PHD	143	193	3.13e0	SMART
RING	144	192	4.48e-1	SMART
PHD	237	286	1.18e1	SMART
Pfam:HECT	402	692	2.7e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119211
AA Change: F702L

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

SMART Domains

Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293
AA Change: F702L

Domain	Start	End	E-Value	Type
SCOP:d1bqk__	2	74	9e-3	SMART
PHD	80	128	5.2e-3	SMART
RING	81	115	5.28e0	SMART
PHD	143	193	3.13e0	SMART
RING	144	192	4.48e-1	SMART
PHD	237	286	1.18e1	SMART
Pfam:HECT	383	717	3.1e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000121521
AA Change: F585L

SMART Domains

Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: F585L

Domain	Start	End	E-Value	Type
SCOP:d1bqk__	2	74	9e-3	SMART
PHD	80	128	5.2e-3	SMART
RING	81	115	5.28e0	SMART
PHD	143	193	3.13e0	SMART
RING	144	192	4.48e-1	SMART
PHD	237	286	1.18e1	SMART
Pfam:HECT	298	598	4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219264

Predicted Effect

probably benign
Transcript: ENSMUST00000219434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219799

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Embryos homozygous for a gene trap allele that inactivates this gene die prior to implantation due to massive apoptosis which results in involution of the blastocyst. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,826,741 (GRCm39)	W462*	probably null	Het
Aftph	A	T	11: 20,642,571 (GRCm39)	Y821N	probably damaging	Het
Ahnak	A	T	19: 8,985,405 (GRCm39)	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,614,575 (GRCm39)	F144L	probably benign	Het
Arid4b	C	T	13: 14,370,037 (GRCm39)	R1178C	probably damaging	Het
Asb8	A	T	15: 98,039,254 (GRCm39)	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,233,968 (GRCm39)	N165S	probably damaging	Het
Bod1l	A	T	5: 41,966,085 (GRCm39)	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,104,155 (GRCm39)	I825T	probably damaging	Het
C4b	A	G	17: 34,955,075 (GRCm39)	W804R	probably damaging	Het
Cadm3	A	T	1: 173,171,969 (GRCm39)	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982 (GRCm39)	F552L	probably benign	Het
Cdh20	G	C	1: 109,976,607 (GRCm39)	A91P	probably damaging	Het
Cela1	A	G	15: 100,573,203 (GRCm39)		probably null	Het
Clk3	T	C	9: 57,658,400 (GRCm39)	Y582C	probably damaging	Het
Cma1	C	T	14: 56,181,155 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,299 (GRCm39)	S95P	probably benign	Het
Cylc1	C	A	X: 110,166,892 (GRCm39)	T391K	unknown	Het
Cyp3a11	T	A	5: 145,791,891 (GRCm39)	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,041,524 (GRCm39)	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,291,693 (GRCm39)	D226A	possibly damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dlec1	A	C	9: 118,941,154 (GRCm39)	T235P	probably damaging	Het
Dnaaf1	G	A	8: 120,317,341 (GRCm39)	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,163,758 (GRCm39)	R377W	probably damaging	Het
Dpep1	T	A	8: 123,927,130 (GRCm39)	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,245 (GRCm39)	V1209E	possibly damaging	Het
Dync2h1	T	G	9: 7,162,802 (GRCm39)	I596L	possibly damaging	Het
Edem1	T	A	6: 108,831,248 (GRCm39)	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,258,858 (GRCm39)	E9*	probably null	Het
Enpep	T	A	3: 129,074,172 (GRCm39)	N792Y	probably benign	Het
Enpp2	A	T	15: 54,739,110 (GRCm39)	M391K	probably damaging	Het
Fanca	A	C	8: 124,001,220 (GRCm39)	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,125,667 (GRCm39)	L74I	probably damaging	Het
Fchsd2	T	A	7: 100,926,624 (GRCm39)	F571L	probably benign	Het
Fhad1	T	C	4: 141,626,560 (GRCm39)	D1345G	probably benign	Het
Glce	A	T	9: 61,968,228 (GRCm39)	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,734,183 (GRCm39)	D119G	probably benign	Het
Gpr137c	T	C	14: 45,481,616 (GRCm39)	I144T	probably damaging	Het
Gprin3	A	G	6: 59,331,504 (GRCm39)	C268R	possibly damaging	Het
Hadha	G	A	5: 30,333,834 (GRCm39)	T395M	probably benign	Het
Hdhd2	T	G	18: 77,052,738 (GRCm39)		probably null	Het
Homer2	C	T	7: 81,268,451 (GRCm39)	E70K	probably benign	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Hrh3	T	C	2: 179,743,043 (GRCm39)	N195S	possibly damaging	Het
Hyou1	T	C	9: 44,292,849 (GRCm39)	V153A	probably benign	Het
Igf2r	A	T	17: 12,920,206 (GRCm39)	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,150,970 (GRCm39)	R279H	possibly damaging	Het
Itga10	A	T	3: 96,562,314 (GRCm39)	R699*	probably null	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Itsn2	T	G	12: 4,677,879 (GRCm39)	F79V	probably damaging	Het
Jak3	C	A	8: 72,133,358 (GRCm39)	C350*	probably null	Het
Jak3	A	T	8: 72,136,059 (GRCm39)	K620*	probably null	Het
Kcnq5	T	C	1: 21,531,821 (GRCm39)	S421G	probably benign	Het
Kdm2b	A	T	5: 123,021,428 (GRCm39)	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,620,047 (GRCm39)	D170G	possibly damaging	Het
Lama3	A	T	18: 12,661,783 (GRCm39)	T2160S	probably benign	Het
Lman1	A	T	18: 66,131,423 (GRCm39)		probably benign	Het
Lmtk3	G	A	7: 45,450,335 (GRCm39)		probably null	Het
Ltb	A	G	17: 35,414,739 (GRCm39)	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,008,378 (GRCm39)	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,393,712 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,875,354 (GRCm39)	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,697,317 (GRCm39)	S678N	probably damaging	Het
Mon2	A	T	10: 122,831,681 (GRCm39)	I1675N	probably damaging	Het
Mug2	A	G	6: 122,056,571 (GRCm39)	N1172S	probably benign	Het
Naa30	C	G	14: 49,410,556 (GRCm39)	S161R	possibly damaging	Het
Ncaph	T	C	2: 126,966,795 (GRCm39)	N220D	probably damaging	Het
Nell1	T	C	7: 50,210,578 (GRCm39)	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877 (GRCm38)	N142S	possibly damaging	Het
Nin	T	A	12: 70,089,192 (GRCm39)	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693 (GRCm38)		noncoding transcript	Het
Nrg1	T	G	8: 32,408,043 (GRCm39)	E63D	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j7	A	G	17: 38,234,771 (GRCm39)	T105A	probably benign	Het
Or5d39	T	C	2: 87,979,487 (GRCm39)	Y292C	probably damaging	Het
Or5g29	G	A	2: 85,421,627 (GRCm39)	V248I	possibly damaging	Het
Or5p53	C	T	7: 107,532,868 (GRCm39)	T47M	probably benign	Het
Or6ae1	T	A	7: 139,742,737 (GRCm39)	E42V	probably damaging	Het
Or7d11	A	T	9: 19,965,892 (GRCm39)	I289N	probably damaging	Het
Or7g27	A	G	9: 19,250,352 (GRCm39)	I199V	probably benign	Het
Or7g32	T	A	9: 19,408,533 (GRCm39)	V163E	possibly damaging	Het
Orc5	C	T	5: 22,721,701 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,125,085 (GRCm39)	R691Q	probably benign	Het
Pofut1	T	A	2: 153,085,580 (GRCm39)	D54E	probably benign	Het
Prl2c5	T	A	13: 13,365,238 (GRCm39)	V128E	probably damaging	Het
Ptk7	T	C	17: 46,877,164 (GRCm39)	M965V	possibly damaging	Het
Pum2	C	T	12: 8,778,726 (GRCm39)	R459*	probably null	Het
Pzp	A	T	6: 128,460,673 (GRCm39)	N1494K	probably benign	Het
Rad21l	A	G	2: 151,487,349 (GRCm39)	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,542,305 (GRCm39)	M352K	possibly damaging	Het
Rpusd2	G	A	2: 118,867,696 (GRCm39)		probably null	Het
Rsph14	A	T	10: 74,865,603 (GRCm39)	D78E	probably damaging	Het
Rtl9	A	T	X: 141,885,026 (GRCm39)	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,431,690 (GRCm39)	H74L	probably damaging	Het
Rusc1	G	A	3: 88,995,155 (GRCm39)	T725I	possibly damaging	Het
Rusf1	A	G	7: 127,887,503 (GRCm39)	L176P	probably damaging	Het
Ryr2	C	T	13: 11,610,622 (GRCm39)	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,784,709 (GRCm39)	V224A	possibly damaging	Het
Shprh	A	T	10: 11,027,864 (GRCm39)	N157I	probably benign	Het
Siglece	A	G	7: 43,307,210 (GRCm39)	I67T	probably benign	Het
Slc9b2	A	T	3: 135,032,027 (GRCm39)	T296S	probably damaging	Het
Sorbs2	A	G	8: 46,228,666 (GRCm39)	K276E	probably damaging	Het
Synj2	A	G	17: 6,087,755 (GRCm39)	T1269A	probably benign	Het
Taar7b	T	C	10: 23,876,573 (GRCm39)	I246T	possibly damaging	Het
Taldo1	A	G	7: 140,976,067 (GRCm39)	Y113C	probably damaging	Het
Tarbp1	A	T	8: 127,174,333 (GRCm39)		probably null	Het
Tars1	C	T	15: 11,394,459 (GRCm39)	M59I	probably benign	Het
Tas2r130	G	A	6: 131,607,780 (GRCm39)	T5I	probably benign	Het
Tex48	T	C	4: 63,525,652 (GRCm39)	E77G	probably damaging	Het
Tmco5	A	G	2: 116,722,736 (GRCm39)	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,524,725 (GRCm39)	H243Q	probably benign	Het
Ttn	T	A	2: 76,564,638 (GRCm39)	R26754*	probably null	Het
Ttn	G	A	2: 76,727,924 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,791,358 (GRCm39)	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,850,930 (GRCm39)	R115*	probably null	Het
Umod	T	G	7: 119,075,938 (GRCm39)	N276T	probably damaging	Het
Unc13c	A	T	9: 73,572,938 (GRCm39)	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,679,754 (GRCm39)	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,610,657 (GRCm39)	D1442E	probably damaging	Het
Utp4	A	G	8: 107,625,153 (GRCm39)	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,575,075 (GRCm39)	N127K	probably benign	Het
Vmn2r75	T	A	7: 85,814,372 (GRCm39)	T374S	probably benign	Het
Washc5	A	G	15: 59,222,257 (GRCm39)	F523L	probably damaging	Het
Wdr3	A	T	3: 100,067,213 (GRCm39)		probably null	Het
Wdr89	T	C	12: 75,679,762 (GRCm39)	Y164C	probably damaging	Het
Xpo5	T	C	17: 46,536,017 (GRCm39)	S550P	probably damaging	Het
Zfp69	T	C	4: 120,788,029 (GRCm39)	T429A	probably damaging	Het
Zfpm1	G	T	8: 123,063,331 (GRCm39)	G797C	probably benign	Het

Other mutations in G2e3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:G2e3	APN	12	51,400,581 (GRCm39)	critical splice acceptor site	probably null
IGL00793:G2e3	APN	12	51,414,545 (GRCm39)	missense	probably benign	0.00
IGL02222:G2e3	APN	12	51,410,016 (GRCm39)	missense	probably damaging	1.00
IGL02335:G2e3	APN	12	51,415,941 (GRCm39)	missense	probably benign	0.19
IGL03134:G2e3	APN	12	51,410,813 (GRCm39)	intron	probably benign
Amadeus	UTSW	12	51,400,572 (GRCm39)	splice site	probably null
theophilus	UTSW	12	51,403,928 (GRCm39)	nonsense	probably null
R1868:G2e3	UTSW	12	51,400,412 (GRCm39)	missense	probably benign	0.44
R3814:G2e3	UTSW	12	51,400,444 (GRCm39)	missense	probably benign	0.28
R4355:G2e3	UTSW	12	51,412,120 (GRCm39)	missense	probably benign	0.00
R4360:G2e3	UTSW	12	51,410,197 (GRCm39)	splice site	probably benign
R4903:G2e3	UTSW	12	51,418,413 (GRCm39)	missense	probably benign	0.23
R4966:G2e3	UTSW	12	51,418,413 (GRCm39)	missense	probably benign	0.23
R4974:G2e3	UTSW	12	51,415,922 (GRCm39)	missense	probably benign	0.00
R5399:G2e3	UTSW	12	51,403,977 (GRCm39)	critical splice donor site	probably null
R5406:G2e3	UTSW	12	51,419,449 (GRCm39)	missense	probably damaging	0.97
R5739:G2e3	UTSW	12	51,419,287 (GRCm39)	missense	possibly damaging	0.94
R6225:G2e3	UTSW	12	51,415,919 (GRCm39)	missense	possibly damaging	0.77
R6625:G2e3	UTSW	12	51,400,572 (GRCm39)	splice site	probably null
R7458:G2e3	UTSW	12	51,412,290 (GRCm39)	missense	possibly damaging	0.67
R7529:G2e3	UTSW	12	51,418,387 (GRCm39)	missense	probably damaging	1.00
R7713:G2e3	UTSW	12	51,415,839 (GRCm39)	missense	probably damaging	0.99
R7748:G2e3	UTSW	12	51,418,450 (GRCm39)	missense	probably benign	0.00
R7998:G2e3	UTSW	12	51,400,624 (GRCm39)	missense	probably benign	0.04
R8972:G2e3	UTSW	12	51,410,277 (GRCm39)	missense	possibly damaging	0.90
R9330:G2e3	UTSW	12	51,403,928 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTAAATCTGCAACAACGATGG -3'
(R):5'- GAAGCCAAACCATCCCTTTATGAG -3'

Sequencing Primer
(F):5'- CTGCAACAACGATGGAAGATATTC -3'
(R):5'- TTGTGCCAAGAAGCTGGC -3'

Posted On

2014-09-17