Incidental Mutation 'IGL03057:Neo1'
ID409267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neo1
Ensembl Gene ENSMUSG00000032340
Gene Nameneogenin
Synonyms2610028H22Rik, D930014N22Rik, Igdcc2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03057
Quality Score
Status
Chromosome9
Chromosomal Location58874687-59036441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58878059 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1428 (E1428G)
Ref Sequence ENSEMBL: ENSMUSP00000150600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]
Predicted Effect probably damaging
Transcript: ENSMUST00000068664
AA Change: E1455G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: E1455G

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
IGc2 76 147 9.49e-5 SMART
IGc2 175 239 4.43e-5 SMART
IGc2 272 338 6.15e-13 SMART
IGc2 364 428 7.76e-10 SMART
low complexity region 446 458 N/A INTRINSIC
FN3 470 553 8.23e-12 SMART
FN3 570 649 1.78e-16 SMART
FN3 665 749 1.54e-11 SMART
FN3 770 849 5.27e-10 SMART
FN3 885 970 7.63e-7 SMART
FN3 986 1072 2.78e-9 SMART
transmembrane domain 1136 1158 N/A INTRINSIC
Pfam:Neogenin_C 1189 1492 1.9e-122 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214547
AA Change: E1428G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,668,391 A1295V possibly damaging Het
Adgre4 T C 17: 55,799,602 probably benign Het
Atp8b2 A T 3: 89,944,186 Y901N probably damaging Het
Bud31 A G 5: 145,146,568 T74A probably benign Het
C4b C A 17: 34,737,764 probably benign Het
Ccdc92 G A 5: 124,835,689 Q259* probably null Het
Chfr C A 5: 110,143,609 Q98K probably benign Het
Ciita T A 16: 10,520,959 probably benign Het
Cnbd2 A T 2: 156,367,672 I512F possibly damaging Het
Cpa2 A G 6: 30,557,727 Y346C probably damaging Het
Cpxm1 A G 2: 130,393,189 L570P probably damaging Het
Cylc1 G A X: 111,122,601 G217D unknown Het
Dennd2a T C 6: 39,508,248 I366V probably damaging Het
Dis3 A T 14: 99,089,990 M359K possibly damaging Het
Dock10 T C 1: 80,567,371 N848S probably damaging Het
Dyrk3 C T 1: 131,129,078 V453I probably benign Het
Ercc5 A G 1: 44,167,001 E358G probably damaging Het
Fam167b C A 4: 129,578,167 C70F possibly damaging Het
Fam71a A T 1: 191,162,944 S501T probably benign Het
Flt1 G T 5: 147,681,924 Y200* probably null Het
Ggh T C 4: 20,065,770 V288A probably benign Het
Glb1l2 T C 9: 26,806,290 probably benign Het
Gm28042 A G 2: 120,032,156 Y302C probably damaging Het
Gsta2 A G 9: 78,333,910 probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Irs4 A G X: 141,722,528 S891P unknown Het
Kcmf1 G T 6: 72,843,027 R330S probably benign Het
Kif26a G T 12: 112,175,774 E821* probably null Het
L3mbtl1 A G 2: 162,967,383 E670G probably damaging Het
Met A T 6: 17,558,766 D1131V probably damaging Het
Odf2 A G 2: 29,923,645 probably benign Het
Ogfod1 T A 8: 94,056,138 L294H possibly damaging Het
Olfr933 G T 9: 38,976,218 V181F probably benign Het
Pcdhb20 A T 18: 37,504,798 I126L possibly damaging Het
Pcdhb9 A T 18: 37,401,277 Q108L probably benign Het
Prdm10 G T 9: 31,349,185 R645L probably damaging Het
Psmb11 T A 14: 54,625,779 C151* probably null Het
Reep1 T A 6: 71,807,781 probably benign Het
Reg3a G A 6: 78,381,956 A46T possibly damaging Het
Rnf213 T A 11: 119,441,087 I2374N probably damaging Het
Slc17a7 T C 7: 45,170,939 Y273H probably damaging Het
Smg6 T A 11: 74,935,434 Y238* probably null Het
Sorcs1 T A 19: 50,259,756 K411* probably null Het
Spta1 G T 1: 174,181,058 A243S probably benign Het
Tas2r135 A T 6: 42,401,127 probably benign Het
Tbx18 T C 9: 87,730,829 R6G probably damaging Het
Timp3 A G 10: 86,300,951 D33G possibly damaging Het
Ttf1 A G 2: 29,071,345 K582E probably damaging Het
Ubr5 C A 15: 38,040,906 probably benign Het
Ugt2b1 A G 5: 86,926,341 V53A possibly damaging Het
Ush2a G T 1: 188,797,838 G3275W probably damaging Het
Usp19 G A 9: 108,499,130 V1023M probably benign Het
Usp26 T C X: 51,757,258 I47V possibly damaging Het
Vapa A G 17: 65,594,907 V76A probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vps13a T C 19: 16,668,694 N1993S probably damaging Het
Wdr59 G A 8: 111,476,118 R598C probably damaging Het
Wisp1 T C 15: 66,891,640 probably benign Het
Other mutations in Neo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Neo1 APN 9 58921919 splice site probably benign
IGL00885:Neo1 APN 9 58888463 missense probably damaging 1.00
IGL01103:Neo1 APN 9 58880799 missense possibly damaging 0.60
IGL01322:Neo1 APN 9 58907085 missense possibly damaging 0.68
IGL02216:Neo1 APN 9 58917053 missense probably damaging 0.96
IGL02327:Neo1 APN 9 58903088 missense probably benign 0.08
IGL02392:Neo1 APN 9 58925811 missense possibly damaging 0.49
IGL02458:Neo1 APN 9 58893867 splice site probably benign
IGL03091:Neo1 APN 9 58978668 missense probably damaging 0.98
IGL03193:Neo1 APN 9 58908484 missense probably damaging 1.00
R0097:Neo1 UTSW 9 58882021 intron probably benign
R0419:Neo1 UTSW 9 58990180 splice site probably benign
R0571:Neo1 UTSW 9 58985786 missense probably benign
R0646:Neo1 UTSW 9 58931034 missense probably damaging 1.00
R0736:Neo1 UTSW 9 58917081 missense possibly damaging 0.78
R0739:Neo1 UTSW 9 58921877 missense probably benign 0.22
R1636:Neo1 UTSW 9 58913277 missense probably damaging 1.00
R1694:Neo1 UTSW 9 58880603 missense probably damaging 1.00
R1827:Neo1 UTSW 9 58917031 nonsense probably null
R1927:Neo1 UTSW 9 58990385 missense probably benign 0.12
R2354:Neo1 UTSW 9 58985634 missense probably benign
R2365:Neo1 UTSW 9 58956003 missense probably benign
R3156:Neo1 UTSW 9 58888979 splice site probably null
R3552:Neo1 UTSW 9 58893878 missense probably damaging 1.00
R3829:Neo1 UTSW 9 58913169 missense possibly damaging 0.58
R4477:Neo1 UTSW 9 58877299 missense probably damaging 0.99
R4613:Neo1 UTSW 9 58889041 missense possibly damaging 0.94
R5023:Neo1 UTSW 9 58990271 missense probably damaging 1.00
R5046:Neo1 UTSW 9 58893911 missense possibly damaging 0.77
R5057:Neo1 UTSW 9 58990271 missense probably damaging 1.00
R5323:Neo1 UTSW 9 58906648 critical splice donor site probably null
R5394:Neo1 UTSW 9 58990234 missense probably benign 0.10
R5470:Neo1 UTSW 9 58931067 missense probably damaging 1.00
R5473:Neo1 UTSW 9 58880843 missense possibly damaging 0.88
R5500:Neo1 UTSW 9 58917054 missense possibly damaging 0.94
R5503:Neo1 UTSW 9 58985650 missense possibly damaging 0.67
R6122:Neo1 UTSW 9 58917008 missense probably benign
R6191:Neo1 UTSW 9 58889029 missense probably damaging 1.00
R6431:Neo1 UTSW 9 58907071 missense probably benign 0.27
R6560:Neo1 UTSW 9 58880601 missense possibly damaging 0.95
R6658:Neo1 UTSW 9 58921849 missense probably benign 0.14
R6772:Neo1 UTSW 9 58902976 missense probably damaging 1.00
R6912:Neo1 UTSW 9 58917052 missense probably benign 0.00
R7061:Neo1 UTSW 9 58990441 missense possibly damaging 0.95
R7145:Neo1 UTSW 9 58889179 missense probably damaging 1.00
R7156:Neo1 UTSW 9 58902923 missense probably damaging 1.00
X0063:Neo1 UTSW 9 58990298 missense probably damaging 0.98
Posted On2016-08-02