Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4486001:Toe1'

556094

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 #

PIT4486001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116661199-116664785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116663692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 76 (L76S)

Ref Sequence

ENSEMBL: ENSMUSP00000030451 (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: L76S

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

SMART Domains

Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
AA Change: L76S

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: L76S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
AA Change: L76S

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

probably benign
Transcript: ENSMUST00000130359

Predicted Effect

probably damaging
Transcript: ENSMUST00000145468
AA Change: L10S

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

SMART Domains

Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688
AA Change: L10S

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

Coding Region Coverage

1x: 93.0%
3x: 90.5%
10x: 84.1%
20x: 70.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,914 (GRCm39)	S108P	probably damaging	Het
Abhd16b	A	T	2: 181,135,752 (GRCm39)	Q218L	probably benign	Het
Abhd3	T	A	18: 10,645,233 (GRCm39)	I354F	probably benign	Het
Abt1	T	C	13: 23,607,851 (GRCm39)	Y51C	possibly damaging	Het
Actl9	T	A	17: 33,653,172 (GRCm39)	Y411N	possibly damaging	Het
Ano4	A	G	10: 88,828,891 (GRCm39)	V516A	probably damaging	Het
Bptf	A	T	11: 106,945,614 (GRCm39)	S2542T	probably damaging	Het
Card11	C	T	5: 140,862,163 (GRCm39)	V1045M	probably damaging	Het
Ccdc121	T	A	5: 31,645,087 (GRCm39)	I280K	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,268,122 (GRCm39)	K386E	possibly damaging	Het
Cks1b	C	A	3: 89,323,621 (GRCm39)	Q49H	probably damaging	Het
Clpb	A	T	7: 101,313,139 (GRCm39)	D41V	probably benign	Het
Cyp3a11	A	T	5: 145,797,302 (GRCm39)	M359K	probably damaging	Het
Cyp3a13	A	T	5: 137,908,228 (GRCm39)	I207N	probably benign	Het
Dennd4c	T	A	4: 86,717,701 (GRCm39)	L566*	probably null	Het
Dhtkd1	A	T	2: 5,904,806 (GRCm39)	D859E	probably benign	Het
Efcab6	T	C	15: 83,857,514 (GRCm39)	D295G	probably benign	Het
Fcgbp	A	G	7: 27,774,698 (GRCm39)	T91A	possibly damaging	Het
Gm11569	GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA	GCA	11: 99,689,491 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,528,880 (GRCm39)	K454E	unknown	Het
Herc1	T	A	9: 66,279,671 (GRCm39)	I193N	probably damaging	Het
Kdm5b	T	A	1: 134,556,423 (GRCm39)	L1370Q	probably damaging	Het
Lrrc37	A	T	11: 103,509,027 (GRCm39)	H980Q	unknown	Het
Map4	T	G	9: 109,901,682 (GRCm39)	V965G	probably damaging	Het
Mkrn2os	T	C	6: 115,562,444 (GRCm39)	D173G	probably benign	Het
Ndfip2	A	G	14: 105,532,300 (GRCm39)	D232G	probably damaging	Het
Nipal2	C	T	15: 34,584,875 (GRCm39)	G231D	probably damaging	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Or5p68	A	G	7: 107,945,529 (GRCm39)	S220P	possibly damaging	Het
Or8g50	T	A	9: 39,648,535 (GRCm39)	C141*	probably null	Het
Prkar2a	T	C	9: 108,610,326 (GRCm39)	L185S	probably damaging	Het
Ptpn9	T	G	9: 56,968,287 (GRCm39)	N542K	probably damaging	Het
Pus10	G	A	11: 23,662,326 (GRCm39)		probably null	Het
Pyroxd2	A	G	19: 42,728,828 (GRCm39)	S191P	probably benign	Het
Rab15	T	A	12: 76,848,716 (GRCm39)	K122*	probably null	Het
Rara	A	G	11: 98,864,321 (GRCm39)	N416S	possibly damaging	Het
Rims2	T	C	15: 39,339,916 (GRCm39)	V870A	possibly damaging	Het
Sec16a	T	C	2: 26,315,785 (GRCm39)	T293A		Het
Slc26a3	G	A	12: 31,520,949 (GRCm39)	D718N	probably benign	Het
Slc44a5	G	A	3: 153,964,659 (GRCm39)	V520I	possibly damaging	Het
Spata31e2	G	A	1: 26,724,410 (GRCm39)	P257S	probably damaging	Het
Tgfb2	A	T	1: 186,422,924 (GRCm39)	Y142N	probably benign	Het
Tgfbi	A	T	13: 56,777,607 (GRCm39)	I364F	probably damaging	Het
Tmem144	A	C	3: 79,734,174 (GRCm39)	D176E	probably benign	Het
Tns4	A	T	11: 98,962,161 (GRCm39)	L612Q	probably damaging	Het
Trank1	T	C	9: 111,219,175 (GRCm39)	F1971L	probably damaging	Het
Tsen54	G	T	11: 115,713,422 (GRCm39)	V481F	probably damaging	Het
Uimc1	A	G	13: 55,223,381 (GRCm39)	L297P	probably damaging	Het
Wnt8a	T	C	18: 34,680,636 (GRCm39)	Y334H	probably damaging	Het
Zfp281	A	G	1: 136,554,741 (GRCm39)	D573G	possibly damaging	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
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

PCR Primer
(F):5'- TTATCTGGTTGCTGCCTGAAGC -3'
(R):5'- TGGCCATCACTCTTGCTAGC -3'

Sequencing Primer
(F):5'- GTCCTGGCAGCATGACACAC -3'
(R):5'- CCTTAAAGACAGCTAGCTTTGTGGC -3'

Posted On

2019-06-07