Incidental Mutation 'R4722:Toe1'
ID 354525
Institutional Source Beutler Lab
Gene Symbol Toe1
Ensembl Gene ENSMUSG00000028688
Gene Name target of EGR1, member 1 (nuclear)
Synonyms 4930584N22Rik, 4933424D16Rik
MMRRC Submission 041987-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4722 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 116661199-116664785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116662397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 283 (Y283N)
Ref Sequence ENSEMBL: ENSMUSP00000102063 (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: Y283N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
AA Change: Y283N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: Y283N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
AA Change: Y283N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000154195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142529
Predicted Effect probably benign
Transcript: ENSMUST00000145468
SMART Domains Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688

DomainStartEndE-ValueType
Pfam:CAF1 1 184 2.2e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130359
Meta Mutation Damage Score 0.8740 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G T 12: 55,107,922 (GRCm39) D92E probably benign Het
Abca17 A G 17: 24,484,403 (GRCm39) F1620L probably damaging Het
Abcf1 T C 17: 36,268,933 (GRCm39) probably benign Het
Adtrp T C 13: 41,920,823 (GRCm39) H248R probably benign Het
Aldh1b1 T G 4: 45,803,472 (GRCm39) F337V probably damaging Het
Amz2 C T 11: 109,325,457 (GRCm39) L272F probably damaging Het
Asic2 A T 11: 81,859,009 (GRCm39) M1K probably null Het
Avpr1a T A 10: 122,284,906 (GRCm39) V66E possibly damaging Het
AW554918 C A 18: 25,307,772 (GRCm39) Y28* probably null Het
Cdc25b C T 2: 131,035,271 (GRCm39) P343L probably damaging Het
Chd7 T A 4: 8,822,445 (GRCm39) I846K probably damaging Het
Dnajc13 A T 9: 104,091,017 (GRCm39) M688K probably benign Het
Dock2 T A 11: 34,586,298 (GRCm39) I505F probably damaging Het
Dpy19l4 A G 4: 11,290,521 (GRCm39) V290A possibly damaging Het
Dtl G T 1: 191,288,953 (GRCm39) Q254K possibly damaging Het
Enpp2 T G 15: 54,750,985 (GRCm39) K265T probably damaging Het
Epm2aip1 TGTCGCCG TG 9: 111,101,152 (GRCm39) probably benign Het
Fam133b T A 5: 3,593,949 (GRCm39) probably null Het
Fuom A G 7: 139,679,480 (GRCm39) probably benign Het
Fut9 T C 4: 25,799,734 (GRCm39) probably benign Het
Gas8 T A 8: 124,252,374 (GRCm39) I171N possibly damaging Het
Gipc3 T G 10: 81,177,129 (GRCm39) D147A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm5591 T C 7: 38,218,572 (GRCm39) K767R probably damaging Het
Kctd8 G A 5: 69,498,544 (GRCm39) P34L possibly damaging Het
Kmt2b G A 7: 30,282,627 (GRCm39) R403C probably damaging Het
Krt84 A T 15: 101,436,846 (GRCm39) I396N probably damaging Het
Lrrk2 C A 15: 91,573,104 (GRCm39) F217L probably damaging Het
Med27 T A 2: 29,414,447 (GRCm39) D290E probably damaging Het
Mical3 T C 6: 121,015,486 (GRCm39) Q184R probably benign Het
Mlxip A T 5: 123,585,265 (GRCm39) K591M probably benign Het
Mutyh T A 4: 116,674,069 (GRCm39) L233H probably damaging Het
Naip6 G T 13: 100,443,580 (GRCm39) H253N possibly damaging Het
Nynrin A G 14: 56,091,852 (GRCm39) E56G probably damaging Het
Oip5 C T 2: 119,443,492 (GRCm39) probably null Het
Or10a4 T A 7: 106,696,777 (GRCm39) I35N possibly damaging Het
Or10ak12 T C 4: 118,666,146 (GRCm39) N305S probably damaging Het
Or4c104 T G 2: 88,586,356 (GRCm39) H221P possibly damaging Het
Or4c15 T C 2: 88,760,324 (GRCm39) I112V possibly damaging Het
Or5p61 T A 7: 107,758,445 (GRCm39) I212F probably benign Het
Oxr1 T C 15: 41,677,045 (GRCm39) S132P probably damaging Het
Pcdhac1 C T 18: 37,224,933 (GRCm39) T582I probably damaging Het
Prl7a2 A G 13: 27,844,858 (GRCm39) I176T probably damaging Het
Rabgap1l T C 1: 160,169,734 (GRCm39) T30A possibly damaging Het
Rapgef2 A G 3: 78,976,480 (GRCm39) M1294T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Rnmt T A 18: 68,438,952 (GRCm39) N20K probably damaging Het
Scn7a T A 2: 66,531,228 (GRCm39) T550S possibly damaging Het
Shank1 T A 7: 43,962,638 (GRCm39) Y117* probably null Het
Skint5 T A 4: 113,751,052 (GRCm39) K331I unknown Het
Slc5a1 A G 5: 33,304,055 (GRCm39) Y290C possibly damaging Het
Slfn14 T C 11: 83,174,244 (GRCm39) E249G probably benign Het
Smarcal1 T C 1: 72,650,496 (GRCm39) S544P probably damaging Het
St6galnac3 A T 3: 153,117,166 (GRCm39) Y186N probably damaging Het
Tbc1d1 T C 5: 64,420,900 (GRCm39) F346S probably damaging Het
Tdrd5 A T 1: 156,129,945 (GRCm39) I75K probably benign Het
Tnrc6a T C 7: 122,791,313 (GRCm39) M1737T possibly damaging Het
Tubal3 G T 13: 3,978,185 (GRCm39) G34C probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn1r212 T C 13: 23,068,078 (GRCm39) Y85C probably damaging Het
Yju2b A T 8: 84,985,439 (GRCm39) C277S probably benign Het
Zdhhc4 A G 5: 143,307,536 (GRCm39) S162P probably damaging Het
Zfp712 A G 13: 67,190,177 (GRCm39) S117P probably benign Het
Zic4 G T 9: 91,261,257 (GRCm39) G164C probably damaging Het
Other mutations in Toe1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGACTGAGGACACTGTGGTC -3'
(R):5'- TTCCGGAAATGGTGAGAACATG -3'

Sequencing Primer
(F):5'- AGGACACTGTGGTCCCAGAG -3'
(R):5'- TATCTAGTACCTACCATATGCCAGG -3'
Posted On 2015-10-21