Mutagenetix > Incidental Mutations

Incidental Mutation 'V7581:Toe1'

152547

Institutional Source

Beutler Lab

Gene Symbol

Toe1

Ensembl Gene

ENSMUSG00000028688

Gene Name

target of EGR1, member 1 (nuclear)

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

V7581 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116794310-116807640 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116806111 bp (GRCm38)

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] [ENSMUST00000130359] [ENSMUST00000145468]

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 benign
Transcript: ENSMUST00000130359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142529

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: ENSMUST00000146246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154945

Meta Mutation Damage Score

0.9073

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Abcb10	GGCCATCG	GG	8: 123,969,761		probably benign	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Clasp1	G	A	1: 118,581,348	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Glrx3	A	G	7: 137,459,153	H172R	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Hira	G	A	16: 18,894,821	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr480	G	T	7: 108,066,678	T40K	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,528,476	W274C	probably damaging	Het
Rbbp8nl	T	A	2: 180,278,208	T558S	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Slc5a6	C	T	5: 31,042,613		probably null	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tmc3	T	C	7: 83,622,505	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Vmn2r68	C	T	7: 85,221,880	V732I	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Toe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02806:Toe1	APN	4	116806330	missense	possibly damaging	0.83
F5770:Toe1	UTSW	4	116806111	missense	probably damaging	1.00
PIT4486001:Toe1	UTSW	4	116806495	missense	probably damaging	1.00
R0501:Toe1	UTSW	4	116807485	missense	probably benign
R0639:Toe1	UTSW	4	116806750	missense	probably benign
R1768:Toe1	UTSW	4	116804879	missense	probably benign	0.04
R1860:Toe1	UTSW	4	116805229	missense	probably damaging	1.00
R2926:Toe1	UTSW	4	116804980	missense	possibly damaging	0.67
R4722:Toe1	UTSW	4	116805200	missense	probably damaging	1.00
R4926:Toe1	UTSW	4	116804532	missense	probably damaging	0.99
R5195:Toe1	UTSW	4	116804655	missense	probably damaging	1.00
R6898:Toe1	UTSW	4	116807474	missense	probably damaging	1.00
R7241:Toe1	UTSW	4	116807518	start codon destroyed	probably null	0.95
T0722:Toe1	UTSW	4	116806093	missense	probably benign	0.00
T0975:Toe1	UTSW	4	116806093	missense	probably benign	0.00
V7582:Toe1	UTSW	4	116806111	missense	probably damaging	1.00
V7583:Toe1	UTSW	4	116806111	missense	probably damaging	1.00
X0028:Toe1	UTSW	4	116806052	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAAGCACCGCCTCATTATCTAAC -3'
(R):5'- TACAAGGCCGTGTGTCATGCTG -3'

Sequencing Primer
(F):5'- GAGCCTTGTCACACACATGTC -3'
(R):5'- TGTGTCATGCTGCCAGGAC -3'

Posted On

2014-01-29