Incidental Mutation 'IGL03091:Neo1'
ID 418379
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 # IGL03091
Quality Score
Status
Chromosome 9
Chromosomal Location 58781970-58943724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58885951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 335 (N335K)
Ref Sequence ENSEMBL: ENSMUSP00000063656 (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: N335K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: N335K

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 possibly damaging
Transcript: ENSMUST00000214547
AA Change: N335K

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216941
Predicted Effect unknown
Transcript: ENSMUST00000216964
AA Change: N82K
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 A T 4: 126,352,982 (GRCm39) Y314N probably damaging Het
Aknad1 A G 3: 108,659,219 (GRCm39) T78A possibly damaging Het
Arhgap33 G A 7: 30,227,718 (GRCm39) P494S probably damaging Het
Babam2 T A 5: 31,943,022 (GRCm39) probably null Het
Ces2g T C 8: 105,691,386 (GRCm39) V174A probably damaging Het
Chd1l G A 3: 97,470,863 (GRCm39) R811C probably damaging Het
Crot A T 5: 9,016,897 (GRCm39) H598Q probably benign Het
Dtx2 C T 5: 136,041,228 (GRCm39) S211L probably damaging Het
Duox2 T G 2: 122,119,955 (GRCm39) M852L probably benign Het
Fmc1 G T 6: 38,516,170 (GRCm39) S72I probably damaging Het
Fut1 T C 7: 45,268,951 (GRCm39) C302R probably damaging Het
Gm6401 T C 14: 41,786,615 (GRCm39) T184A possibly damaging Het
Gsdma2 C T 11: 98,542,828 (GRCm39) T29I probably damaging Het
Lgi2 C A 5: 52,721,307 (GRCm39) probably null Het
Lipe A G 7: 25,080,180 (GRCm39) L926P probably damaging Het
Lrp1 T A 10: 127,394,993 (GRCm39) I2511F probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Nbea A G 3: 55,992,725 (GRCm39) S294P probably damaging Het
Neb T A 2: 52,161,324 (GRCm39) H2156L probably benign Het
Nox3 G T 17: 3,716,119 (GRCm39) Q429K probably benign Het
Odad4 T A 11: 100,441,076 (GRCm39) Y102* probably null Het
Pkd1l1 T C 11: 8,805,564 (GRCm39) R1671G probably damaging Het
Plec T C 15: 76,073,503 (GRCm39) T504A possibly damaging Het
Pou5f1 G T 17: 35,820,939 (GRCm39) R127L probably benign Het
Prkdc T A 16: 15,523,174 (GRCm39) probably benign Het
Rassf8 T A 6: 145,761,536 (GRCm39) N287K probably benign Het
Rdh16 T C 10: 127,649,502 (GRCm39) probably benign Het
Ryr1 G A 7: 28,782,911 (GRCm39) A1901V possibly damaging Het
Scnn1g A G 7: 121,345,906 (GRCm39) Y343C probably damaging Het
Sema5a A G 15: 32,538,880 (GRCm39) probably benign Het
Slc9b2 G A 3: 135,034,791 (GRCm39) V310M probably damaging Het
Stox2 T A 8: 47,646,222 (GRCm39) I477F possibly damaging Het
Terb1 A T 8: 105,195,786 (GRCm39) H548Q probably benign Het
Tsks G A 7: 44,607,319 (GRCm39) M547I possibly damaging Het
Tuba8 G A 6: 121,197,403 (GRCm39) E22K probably damaging Het
Wee2 T C 6: 40,438,968 (GRCm39) F364L probably benign Het
Zfp644 A G 5: 106,784,724 (GRCm39) Y608H probably 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
IGL03193:Neo1 APN 9 58,815,767 (GRCm39) missense probably damaging 1.00
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