Mutagenetix > Incidental Mutation

Incidental Mutation 'T0975:Toe1'

262136

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 #

T0975 (G3) of strain 714

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116661199-116664785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116663290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 62 (I62M)

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 benign
Transcript: ENSMUST00000030451
AA Change: I128M

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

SMART Domains

Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
AA Change: I128M

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 benign
Transcript: ENSMUST00000106455
AA Change: I128M

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

SMART Domains

Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
AA Change: I128M

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: ENSMUST00000145468
AA Change: I62M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688
AA Change: I62M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154195

Predicted Effect

probably benign
Transcript: ENSMUST00000130359

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	TAA	TAAA	11: 3,887,945 (GRCm39)		probably null	Het
4930556J24Rik	C	T	11: 3,926,324 (GRCm39)	A27T	unknown	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,071,384 (GRCm39)		probably null	Het
Castor1	G	C	11: 4,170,445 (GRCm39)	G147A	probably benign	Het
Ccdc157	C	T	11: 4,096,246 (GRCm39)	A455T	probably damaging	Het
Ccng1	A	C	11: 40,644,871 (GRCm39)	S9A	probably benign	Het
Cfh	T	C	1: 140,082,336 (GRCm39)	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Chrng	T	C	1: 87,138,348 (GRCm39)	S380P	probably benign	Het
Clspn	ACGGCGGCGGCGGCG	ACGGCGGCGGCGGCGGCGGCG	4: 126,460,230 (GRCm39)		probably benign	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cxxc1	C	T	18: 74,353,992 (GRCm39)	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,823,950 (GRCm39)	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,840,130 (GRCm39)	S1255G	probably benign	Het
Dpep1	A	T	8: 123,927,727 (GRCm39)	S388C	probably damaging	Het
Emid1	T	C	11: 5,094,386 (GRCm39)	T42A	probably damaging	Het
Emid1	A	C	11: 5,078,884 (GRCm39)	L353V	probably benign	Het
Epn3	A	G	11: 94,382,733 (GRCm39)		probably null	Het
Fam124b	T	C	1: 80,190,843 (GRCm39)	E180G	probably benign	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm9972	GA	GAA	11: 42,927,597 (GRCm39)		probably null	Het
Hmmr	G	C	11: 40,614,243 (GRCm39)	N148K	probably damaging	Het
Homez	C	T	14: 55,094,796 (GRCm39)	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,485,221 (GRCm39)	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,452,527 (GRCm39)	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,089,660 (GRCm39)		probably benign	Het
Kremen1	C	T	11: 5,145,105 (GRCm39)	A424T	probably benign	Het
Mat2b	G	A	11: 40,570,918 (GRCm39)	T302I	probably benign	Het
Mtmr3	C	T	11: 4,438,441 (GRCm39)	R671K	probably benign	Het
Nacad	A	G	11: 6,551,632 (GRCm39)	C520R	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,549,750 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,551,622 (GRCm39)	N523S	probably benign	Het
Nefh	G	A	11: 4,890,151 (GRCm39)	P823S	probably benign	Het
Nfrkb	G	C	9: 31,308,379 (GRCm39)	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,149,062 (GRCm39)	E223G	probably damaging	Het
Notch3	T	A	17: 32,365,391 (GRCm39)	Y1107F	probably damaging	Het
Or10ak9	G	T	4: 118,726,500 (GRCm39)	R174M	probably benign	Het
Or13g1	A	T	7: 85,955,492 (GRCm39)	Y276*	probably null	Het
Or6c35	A	G	10: 129,169,314 (GRCm39)	D188G	probably benign	Het
Osm	A	G	11: 4,189,588 (GRCm39)	D124G	probably benign	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 132,984,305 (GRCm39)		probably benign	Het
Tcn2	G	C	11: 3,873,487 (GRCm39)	F286L	possibly damaging	Het
Tg	T	C	15: 66,560,712 (GRCm39)	S10P	probably benign	Het
Tmprss7	C	T	16: 45,501,096 (GRCm39)	R235Q	probably benign	Het
Tns3	G	A	11: 8,499,100 (GRCm39)		probably benign	Het
Tns3	G	T	11: 8,401,146 (GRCm39)	L1051M	probably benign	Het
Tns3	T	G	11: 8,429,518 (GRCm39)	E806A	probably benign	Het
Txnrd2	A	G	16: 18,294,315 (GRCm39)	H436R	probably damaging	Het
Ubr4	C	T	4: 139,179,092 (GRCm39)	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,690,120 (GRCm39)	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zfyve21	A	G	12: 111,794,067 (GRCm39)	D206G	probably damaging	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het
Zpld2	GTG	GTGCTG	4: 133,929,940 (GRCm39)		probably benign	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
F5770:Toe1	UTSW	4	116,663,308 (GRCm39)	missense	probably damaging	1.00
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
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

2015-02-04