Incidental Mutation 'IGL03193:Neo1'
ID 412719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neo1
Ensembl Gene ENSMUSG00000032340
Gene Name neogenin
Synonyms 2610028H22Rik, D930014N22Rik, Igdcc2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03193
Quality Score
Status
Chromosome 9
Chromosomal Location 58781970-58943724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58815767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 836 (Y836C)
Ref Sequence ENSEMBL: ENSMUSP00000150600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000068664
AA Change: Y836C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: Y836C

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: Y836C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217545
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Arhgef12 T C 9: 42,903,829 (GRCm39) probably benign Het
Bmper C A 9: 23,277,544 (GRCm39) H211Q possibly damaging Het
C130074G19Rik A T 1: 184,614,899 (GRCm39) L97Q probably damaging Het
Csmd3 A T 15: 47,492,626 (GRCm39) probably benign Het
Cyb561a3 T C 19: 10,559,764 (GRCm39) Y30H probably benign Het
Cyp2a22 T A 7: 26,635,846 (GRCm39) D239V probably benign Het
Fras1 A T 5: 96,925,965 (GRCm39) Y3723F probably damaging Het
Frem1 C T 4: 82,912,263 (GRCm39) probably benign Het
Gm382 G A X: 125,971,321 (GRCm39) A1169T probably damaging Het
Golga2 T C 2: 32,195,020 (GRCm39) L696P probably damaging Het
Gse1 G T 8: 121,298,079 (GRCm39) probably null Het
Herc1 T C 9: 66,309,962 (GRCm39) L1104P probably benign Het
Myh14 A G 7: 44,279,369 (GRCm39) V945A possibly damaging Het
Myo7a A G 7: 97,740,264 (GRCm39) F577L probably damaging Het
Ndst2 A T 14: 20,779,917 (GRCm39) S108T probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nlrp4e T C 7: 23,020,251 (GRCm39) L246P probably damaging Het
Or52n2 A G 7: 104,542,263 (GRCm39) C191R probably benign Het
Osbpl9 A G 4: 108,924,163 (GRCm39) S471P possibly damaging Het
Patl1 T A 19: 11,898,204 (GRCm39) D127E possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Prlr T A 15: 10,328,376 (GRCm39) S284T possibly damaging Het
Prps2 A T X: 166,157,080 (GRCm39) N75K possibly damaging Het
Sec16b A T 1: 157,362,963 (GRCm39) M265L probably benign Het
Slc9a2 G T 1: 40,795,431 (GRCm39) V511L probably benign Het
Tm9sf5 A G X: 56,463,503 (GRCm39) probably benign Het
Tnp1 G A 1: 73,054,923 (GRCm39) R34W probably damaging Het
Tpr A G 1: 150,315,831 (GRCm39) D2036G possibly damaging Het
Trpm6 T C 19: 18,803,236 (GRCm39) V893A possibly damaging Het
Tshb T C 3: 102,685,515 (GRCm39) Y38C probably damaging Het
Usp17lb A T 7: 104,490,484 (GRCm39) S148T possibly damaging Het
Other mutations in Neo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Neo1 APN 9 58,829,202 (GRCm39) splice site probably benign
IGL00885:Neo1 APN 9 58,795,746 (GRCm39) missense probably damaging 1.00
IGL01103:Neo1 APN 9 58,788,082 (GRCm39) missense possibly damaging 0.60
IGL01322:Neo1 APN 9 58,814,368 (GRCm39) missense possibly damaging 0.68
IGL02216:Neo1 APN 9 58,824,336 (GRCm39) missense probably damaging 0.96
IGL02327:Neo1 APN 9 58,810,371 (GRCm39) missense probably benign 0.08
IGL02392:Neo1 APN 9 58,833,094 (GRCm39) missense possibly damaging 0.49
IGL02458:Neo1 APN 9 58,801,150 (GRCm39) splice site probably benign
IGL03057:Neo1 APN 9 58,785,342 (GRCm39) missense probably damaging 1.00
IGL03091:Neo1 APN 9 58,885,951 (GRCm39) missense probably damaging 0.98
R0097:Neo1 UTSW 9 58,882,021 (GRCm38) intron probably benign
R0419:Neo1 UTSW 9 58,897,463 (GRCm39) splice site probably benign
R0571:Neo1 UTSW 9 58,893,069 (GRCm39) missense probably benign
R0646:Neo1 UTSW 9 58,838,317 (GRCm39) missense probably damaging 1.00
R0736:Neo1 UTSW 9 58,824,364 (GRCm39) missense possibly damaging 0.78
R0739:Neo1 UTSW 9 58,829,160 (GRCm39) missense probably benign 0.22
R1636:Neo1 UTSW 9 58,820,560 (GRCm39) missense probably damaging 1.00
R1694:Neo1 UTSW 9 58,787,886 (GRCm39) missense probably damaging 1.00
R1827:Neo1 UTSW 9 58,824,314 (GRCm39) nonsense probably null
R1927:Neo1 UTSW 9 58,897,668 (GRCm39) missense probably benign 0.12
R2354:Neo1 UTSW 9 58,892,917 (GRCm39) missense probably benign
R2365:Neo1 UTSW 9 58,863,286 (GRCm39) missense probably benign
R3156:Neo1 UTSW 9 58,796,262 (GRCm39) splice site probably null
R3552:Neo1 UTSW 9 58,801,161 (GRCm39) missense probably damaging 1.00
R3829:Neo1 UTSW 9 58,820,452 (GRCm39) missense possibly damaging 0.58
R4477:Neo1 UTSW 9 58,784,582 (GRCm39) missense probably damaging 0.99
R4613:Neo1 UTSW 9 58,796,324 (GRCm39) missense possibly damaging 0.94
R5023:Neo1 UTSW 9 58,897,554 (GRCm39) missense probably damaging 1.00
R5046:Neo1 UTSW 9 58,801,194 (GRCm39) missense possibly damaging 0.77
R5057:Neo1 UTSW 9 58,897,554 (GRCm39) missense probably damaging 1.00
R5323:Neo1 UTSW 9 58,813,931 (GRCm39) critical splice donor site probably null
R5394:Neo1 UTSW 9 58,897,517 (GRCm39) missense probably benign 0.10
R5470:Neo1 UTSW 9 58,838,350 (GRCm39) missense probably damaging 1.00
R5473:Neo1 UTSW 9 58,788,126 (GRCm39) missense possibly damaging 0.88
R5500:Neo1 UTSW 9 58,824,337 (GRCm39) missense possibly damaging 0.94
R5503:Neo1 UTSW 9 58,892,933 (GRCm39) missense possibly damaging 0.67
R6122:Neo1 UTSW 9 58,824,291 (GRCm39) missense probably benign
R6191:Neo1 UTSW 9 58,796,312 (GRCm39) missense probably damaging 1.00
R6431:Neo1 UTSW 9 58,814,354 (GRCm39) missense probably benign 0.27
R6560:Neo1 UTSW 9 58,787,884 (GRCm39) missense possibly damaging 0.95
R6658:Neo1 UTSW 9 58,829,132 (GRCm39) missense probably benign 0.14
R6772:Neo1 UTSW 9 58,810,259 (GRCm39) missense probably damaging 1.00
R6912:Neo1 UTSW 9 58,824,335 (GRCm39) missense probably benign 0.00
R7061:Neo1 UTSW 9 58,897,724 (GRCm39) missense possibly damaging 0.95
R7145:Neo1 UTSW 9 58,796,462 (GRCm39) missense probably damaging 1.00
R7156:Neo1 UTSW 9 58,810,206 (GRCm39) missense probably damaging 1.00
R7485:Neo1 UTSW 9 58,791,826 (GRCm39) missense probably benign 0.04
R7519:Neo1 UTSW 9 58,785,348 (GRCm39) missense probably benign 0.13
R7615:Neo1 UTSW 9 58,791,786 (GRCm39) missense probably benign 0.07
R7665:Neo1 UTSW 9 58,833,078 (GRCm39) missense probably damaging 1.00
R7695:Neo1 UTSW 9 58,810,212 (GRCm39) missense possibly damaging 0.81
R7753:Neo1 UTSW 9 58,863,288 (GRCm39) missense probably benign 0.00
R7807:Neo1 UTSW 9 58,897,777 (GRCm39) missense probably benign 0.01
R7915:Neo1 UTSW 9 58,838,264 (GRCm39) missense probably benign 0.42
R7973:Neo1 UTSW 9 58,897,476 (GRCm39) missense probably damaging 1.00
R8356:Neo1 UTSW 9 58,785,402 (GRCm39) missense probably damaging 1.00
R8505:Neo1 UTSW 9 58,820,566 (GRCm39) missense probably benign 0.02
R8700:Neo1 UTSW 9 58,825,913 (GRCm39) missense probably benign 0.28
R8798:Neo1 UTSW 9 58,820,449 (GRCm39) missense probably damaging 1.00
R8952:Neo1 UTSW 9 58,897,545 (GRCm39) missense probably benign 0.01
R9779:Neo1 UTSW 9 58,886,009 (GRCm39) nonsense probably null
R9784:Neo1 UTSW 9 58,889,503 (GRCm39) missense probably benign
R9789:Neo1 UTSW 9 58,801,307 (GRCm39) critical splice acceptor site probably null
X0063:Neo1 UTSW 9 58,897,581 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02