Incidental Mutation 'IGL00885:Neo1'
ID28113
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 #IGL00885
Quality Score
Status
Chromosome9
Chromosomal Location58874687-59036441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58888463 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 1231 (L1231P)
Ref Sequence ENSEMBL: ENSMUSP00000150600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]
Predicted Effect probably damaging
Transcript: ENSMUST00000068664
AA Change: L1258P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: L1258P

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: L1231P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215165
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 42,714,315 probably benign Het
Adora2a T G 10: 75,333,451 F250V probably damaging Het
Atp8b5 T C 4: 43,355,567 S516P probably damaging Het
Btbd16 A G 7: 130,788,822 I150V probably damaging Het
Capn13 A T 17: 73,339,425 I331N possibly damaging Het
Capzb A G 4: 139,287,050 S233G probably benign Het
Clasp2 A G 9: 113,911,416 R1171G probably damaging Het
Col16a1 T G 4: 130,096,910 I1419S probably damaging Het
Coro7 T A 16: 4,635,026 Y286F probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Cyp11b2 T C 15: 74,853,515 T252A probably benign Het
Daam1 T A 12: 71,944,091 C160S unknown Het
Ephx4 T C 5: 107,406,125 probably benign Het
Fbxo47 A T 11: 97,878,120 D63E probably benign Het
Fgf3 A T 7: 144,840,784 probably benign Het
Fstl4 C T 11: 53,148,982 T331I possibly damaging Het
Gm597 T C 1: 28,776,845 E702G unknown Het
Gpr158 T C 2: 21,649,021 F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 V106I probably damaging Het
Ikzf2 T C 1: 69,539,322 T271A possibly damaging Het
Kat14 T A 2: 144,394,255 N302K probably benign Het
Kmt2c G T 5: 25,409,171 Q184K possibly damaging Het
Moxd2 A G 6: 40,884,179 probably benign Het
Nbeal2 C A 9: 110,638,661 E479D probably damaging Het
Nfatc3 C T 8: 106,099,177 P620L probably damaging Het
Nol9 T C 4: 152,041,600 F253L probably damaging Het
Nutm2 T A 13: 50,474,860 S653R probably benign Het
Olfr138 A C 17: 38,274,899 I43L probably benign Het
Olfr1504 A T 19: 13,888,168 M14K probably benign Het
Plcg1 A G 2: 160,758,083 D921G probably benign Het
Plpp4 A T 7: 129,321,533 I101F probably damaging Het
Psg17 A T 7: 18,820,166 L53Q probably damaging Het
Ptpn4 A T 1: 119,802,363 I20N possibly damaging Het
R3hdm1 A T 1: 128,236,438 I1030L probably damaging Het
Rpl7 A C 1: 16,102,583 S171A possibly damaging Het
Snx25 G A 8: 46,038,476 T859M probably damaging Het
Tmem94 A G 11: 115,795,328 M990V probably damaging Het
Tnnt2 A G 1: 135,846,764 probably benign Het
Ttn T C 2: 76,709,685 H34319R possibly damaging Het
Vmn1r72 A G 7: 11,670,497 V8A probably benign Het
Zbtb41 A G 1: 139,430,324 T457A probably benign Het
Other mutations in Neo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Neo1 APN 9 58921919 splice site probably benign
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
IGL03057:Neo1 APN 9 58878059 missense probably damaging 1.00
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 On2013-04-17