Incidental Mutation 'IGL02458:Neo1'
ID |
294537 |
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)
|
Stock # |
IGL02458
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 58801150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068664]
[ENSMUST00000214547]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068664
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000214547
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
T |
8: 41,206,844 (GRCm39) |
I37L |
probably benign |
Het |
Alpk1 |
A |
G |
3: 127,474,968 (GRCm39) |
|
probably null |
Het |
Ankrd33 |
T |
C |
15: 101,014,488 (GRCm39) |
F8L |
probably damaging |
Het |
Avil |
A |
G |
10: 126,852,222 (GRCm39) |
K669R |
probably benign |
Het |
Bcor |
G |
T |
X: 11,914,749 (GRCm39) |
L1165I |
probably damaging |
Het |
C7 |
A |
G |
15: 5,088,871 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,875,896 (GRCm39) |
I958V |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,935,869 (GRCm39) |
K435* |
probably null |
Het |
Chrna7 |
G |
A |
7: 62,755,842 (GRCm39) |
L235F |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,706,919 (GRCm39) |
V2065L |
unknown |
Het |
Copb1 |
A |
T |
7: 113,846,020 (GRCm39) |
N183K |
probably benign |
Het |
Cpn2 |
G |
A |
16: 30,079,653 (GRCm39) |
A16V |
probably benign |
Het |
Cul1 |
A |
G |
6: 47,502,542 (GRCm39) |
K769E |
possibly damaging |
Het |
Deup1 |
C |
T |
9: 15,503,656 (GRCm39) |
V302M |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,927,176 (GRCm39) |
K3871E |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,004,431 (GRCm39) |
V3844A |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,657,487 (GRCm39) |
L763* |
probably null |
Het |
Donson |
A |
T |
16: 91,478,064 (GRCm39) |
W461R |
probably damaging |
Het |
Dpp10 |
T |
C |
1: 123,269,418 (GRCm39) |
I664V |
probably benign |
Het |
Dusp8 |
T |
A |
7: 141,636,484 (GRCm39) |
T369S |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,117,422 (GRCm39) |
L56Q |
probably damaging |
Het |
Ecd |
A |
T |
14: 20,374,545 (GRCm39) |
S532T |
probably benign |
Het |
Frg2f1 |
G |
A |
4: 119,388,154 (GRCm39) |
T115I |
probably damaging |
Het |
Gpatch2l |
A |
G |
12: 86,335,735 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
T |
A |
5: 31,316,867 (GRCm39) |
|
probably null |
Het |
Haghl |
T |
C |
17: 26,002,470 (GRCm39) |
|
probably benign |
Het |
Hoxc8 |
A |
T |
15: 102,901,181 (GRCm39) |
N208I |
probably damaging |
Het |
Igf2 |
T |
C |
7: 142,207,785 (GRCm39) |
D115G |
probably benign |
Het |
Jag2 |
T |
A |
12: 112,879,613 (GRCm39) |
D385V |
probably damaging |
Het |
Laptm4b |
A |
G |
15: 34,258,888 (GRCm39) |
H54R |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,352,117 (GRCm39) |
S640P |
probably damaging |
Het |
Map3k8 |
A |
C |
18: 4,334,660 (GRCm39) |
V328G |
probably damaging |
Het |
Mfsd13a |
A |
G |
19: 46,360,686 (GRCm39) |
E388G |
probably damaging |
Het |
Ms4a13 |
G |
A |
19: 11,149,292 (GRCm39) |
T168I |
probably benign |
Het |
Mtg1 |
C |
A |
7: 139,730,085 (GRCm39) |
Q294K |
probably benign |
Het |
Myh3 |
C |
T |
11: 66,987,766 (GRCm39) |
A1413V |
possibly damaging |
Het |
Ogfod3 |
T |
C |
11: 121,091,749 (GRCm39) |
E119G |
probably benign |
Het |
Or10ak9 |
A |
G |
4: 118,726,497 (GRCm39) |
N173S |
possibly damaging |
Het |
Or2t49 |
A |
T |
11: 58,393,073 (GRCm39) |
M109K |
probably benign |
Het |
Or4a77 |
A |
G |
2: 89,487,692 (GRCm39) |
L31P |
probably damaging |
Het |
Or5ak20 |
G |
A |
2: 85,184,006 (GRCm39) |
T88I |
probably benign |
Het |
Or6c210 |
A |
T |
10: 129,496,475 (GRCm39) |
I267F |
probably benign |
Het |
Parvb |
G |
T |
15: 84,187,635 (GRCm39) |
D248Y |
probably damaging |
Het |
Pcdh11x |
A |
T |
X: 119,310,315 (GRCm39) |
H586L |
possibly damaging |
Het |
Phactr2 |
T |
C |
10: 13,137,572 (GRCm39) |
E120G |
probably damaging |
Het |
Ppfibp2 |
A |
T |
7: 107,342,171 (GRCm39) |
Q775L |
probably damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,467,443 (GRCm39) |
Y427C |
probably damaging |
Het |
Rftn2 |
A |
T |
1: 55,250,351 (GRCm39) |
C131* |
probably null |
Het |
Rigi |
A |
G |
4: 40,229,536 (GRCm39) |
S83P |
probably damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,556,402 (GRCm39) |
D474G |
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,156,734 (GRCm39) |
E17G |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,720,585 (GRCm39) |
M2688V |
probably benign |
Het |
Slc22a18 |
C |
A |
7: 143,046,574 (GRCm39) |
|
probably benign |
Het |
Smarcc1 |
A |
G |
9: 109,961,194 (GRCm39) |
|
probably benign |
Het |
Soat2 |
T |
C |
15: 102,070,550 (GRCm39) |
V451A |
probably damaging |
Het |
Sptlc2 |
A |
T |
12: 87,356,667 (GRCm39) |
|
probably benign |
Het |
Tada1 |
C |
T |
1: 166,220,203 (GRCm39) |
L308F |
probably damaging |
Het |
Tango2 |
A |
T |
16: 18,128,731 (GRCm39) |
|
probably null |
Het |
Tbc1d15 |
A |
T |
10: 115,065,111 (GRCm39) |
V158D |
probably damaging |
Het |
Tmx2 |
A |
T |
2: 84,503,588 (GRCm39) |
|
probably benign |
Het |
Tpte |
T |
A |
8: 22,795,874 (GRCm39) |
I79K |
probably benign |
Het |
Trav6-1 |
A |
G |
14: 52,876,199 (GRCm39) |
I40V |
probably benign |
Het |
Trgv3 |
A |
G |
13: 19,427,423 (GRCm39) |
Y102C |
probably damaging |
Het |
Ubash3a |
T |
C |
17: 31,450,455 (GRCm39) |
S377P |
possibly damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,600,446 (GRCm39) |
D575G |
probably damaging |
Het |
Vps41 |
A |
G |
13: 19,037,649 (GRCm39) |
D704G |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,638,259 (GRCm39) |
S261P |
possibly damaging |
Het |
Zc3hav1 |
A |
G |
6: 38,317,264 (GRCm39) |
V112A |
probably damaging |
Het |
|
Other mutations in Neo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
2015-04-16 |