Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Toe1'

177977

Institutional Source

Beutler Lab

Gene Symbol

Toe1

Ensembl Gene

ENSMUSG00000028688

Gene Name

target of EGR1, member 1 (nuclear)

Synonyms

4930584N22Rik, 4933424D16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

F5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116661199-116664785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116663308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 56 (N56K)

Ref Sequence

ENSEMBL: ENSMUSP00000117019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030451] [ENSMUST00000045542] [ENSMUST00000102699] [ENSMUST00000106455] [ENSMUST00000106456] [ENSMUST00000106459] [ENSMUST00000145468] [ENSMUST00000130359]

AlphaFold

Q9D2E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030451
AA Change: N122K

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

SMART Domains

Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
AA Change: N122K

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:CAF1	39	171	3.1e-46	PFAM
Pfam:CAF1	164	452	9.9e-40	PFAM
Pfam:zf-CCCH	297	322	2.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045542

SMART Domains

Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985

Domain	Start	End	E-Value	Type
low complexity region	24	30	N/A	INTRINSIC
Pfam:Pkinase	59	309	1.6e-48	PFAM
Pfam:Pkinase_Tyr	59	309	1.2e-50	PFAM
low complexity region	539	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102699

SMART Domains

Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687

Domain	Start	End	E-Value	Type
ENDO3c	107	259	1.46e-52	SMART
FES	260	280	2.16e-5	SMART
Pfam:NUDIX_4	353	463	2.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106455
AA Change: N122K

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

SMART Domains

Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
AA Change: N122K

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:CAF1	37	301	2.1e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106456

SMART Domains

Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985

Domain	Start	End	E-Value	Type
low complexity region	24	30	N/A	INTRINSIC
Pfam:Pkinase_Tyr	59	291	4.5e-46	PFAM
Pfam:Pkinase	60	332	3.6e-46	PFAM
low complexity region	510	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106459

SMART Domains

Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985

Domain	Start	End	E-Value	Type
low complexity region	24	30	N/A	INTRINSIC
Pfam:Pkinase_Tyr	59	238	6.1e-37	PFAM
Pfam:Pkinase	60	239	4.3e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124857

Predicted Effect

probably damaging
Transcript: ENSMUST00000145468
AA Change: N56K

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

SMART Domains

Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688
AA Change: N56K

Domain	Start	End	E-Value	Type
Pfam:CAF1	1	184	2.2e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142529

Predicted Effect

probably benign
Transcript: ENSMUST00000130359

Meta Mutation Damage Score

0.9073

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Arhgef38	T	G	3: 132,855,301 (GRCm39)	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Camk2g	T	C	14: 20,789,380 (GRCm39)		probably benign	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 18,025,526 (GRCm39)		probably null	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
Cfi	T	A	3: 129,648,641 (GRCm39)	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,509,078 (GRCm39)	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gdap1l1	C	T	2: 163,289,406 (GRCm39)		probably benign	Het
Glrx3	A	G	7: 137,060,882 (GRCm39)	H172R	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm20517	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Got1	T	A	19: 43,489,000 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,928,061 (GRCm39)		probably benign	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Mctp2	T	A	7: 71,771,499 (GRCm39)		probably benign	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Or5p57	G	T	7: 107,665,885 (GRCm39)	T40K	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,127,699 (GRCm39)	W274C	probably damaging	Het
Rabep1	T	C	11: 70,828,342 (GRCm39)		probably benign	Het
Ralgapa1	G	A	12: 55,842,438 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,375,064 (GRCm39)		probably null	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		probably benign	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Slc5a6	C	T	5: 31,199,957 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tmc3	T	C	7: 83,271,713 (GRCm39)	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Ttc23	T	C	7: 67,359,063 (GRCm39)		probably benign	Het
Ttc36	A	T	9: 44,713,094 (GRCm39)		probably benign	Het
Tubb3	C	T	8: 124,138,414 (GRCm39)		probably benign	Het
Vmn2r68	C	T	7: 84,871,088 (GRCm39)	V732I	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp606	T	G	7: 12,215,123 (GRCm39)		probably benign	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	Het

Other mutations in Toe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02806:Toe1	APN	4	116,663,527 (GRCm39)	missense	possibly damaging	0.83
PIT4486001:Toe1	UTSW	4	116,663,692 (GRCm39)	missense	probably damaging	1.00
R0501:Toe1	UTSW	4	116,664,682 (GRCm39)	missense	probably benign
R0639:Toe1	UTSW	4	116,663,947 (GRCm39)	missense	probably benign
R1768:Toe1	UTSW	4	116,662,076 (GRCm39)	missense	probably benign	0.04
R1860:Toe1	UTSW	4	116,662,426 (GRCm39)	missense	probably damaging	1.00
R2926:Toe1	UTSW	4	116,662,177 (GRCm39)	missense	possibly damaging	0.67
R4722:Toe1	UTSW	4	116,662,397 (GRCm39)	missense	probably damaging	1.00
R4926:Toe1	UTSW	4	116,661,729 (GRCm39)	missense	probably damaging	0.99
R5195:Toe1	UTSW	4	116,661,852 (GRCm39)	missense	probably damaging	1.00
R6898:Toe1	UTSW	4	116,664,671 (GRCm39)	missense	probably damaging	1.00
R7241:Toe1	UTSW	4	116,664,715 (GRCm39)	start codon destroyed	probably null	0.95
R9550:Toe1	UTSW	4	116,661,916 (GRCm39)	missense	probably benign	0.00
T0722:Toe1	UTSW	4	116,663,290 (GRCm39)	missense	probably benign	0.00
T0975:Toe1	UTSW	4	116,663,290 (GRCm39)	missense	probably benign	0.00
V7581:Toe1	UTSW	4	116,663,308 (GRCm39)	missense	probably damaging	1.00
V7582:Toe1	UTSW	4	116,663,308 (GRCm39)	missense	probably damaging	1.00
V7583:Toe1	UTSW	4	116,663,308 (GRCm39)	missense	probably damaging	1.00
X0028:Toe1	UTSW	4	116,663,249 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-05-07