Incidental Mutation 'IGL02216:Neo1'
ID |
284915 |
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 # |
IGL02216
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58824336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 697
(I697M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068664]
[ENSMUST00000214547]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068664
AA Change: I697M
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: I697M
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 damaging
Transcript: ENSMUST00000214547
AA Change: I697M
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215026
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216964
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
T |
C |
11: 70,507,005 (GRCm39) |
F48L |
possibly damaging |
Het |
Adamts12 |
A |
G |
15: 11,241,571 (GRCm39) |
N381S |
possibly damaging |
Het |
Akp3 |
A |
T |
1: 87,055,372 (GRCm39) |
Q473L |
probably damaging |
Het |
Albfm1 |
T |
C |
5: 90,727,438 (GRCm39) |
|
probably benign |
Het |
Ap5s1 |
T |
A |
2: 131,054,887 (GRCm39) |
|
probably benign |
Het |
Atp10b |
T |
A |
11: 43,150,616 (GRCm39) |
L1438Q |
probably damaging |
Het |
B3galt4 |
G |
A |
17: 34,169,539 (GRCm39) |
P233L |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cc2d1a |
C |
A |
8: 84,865,942 (GRCm39) |
E393* |
probably null |
Het |
Cd209a |
G |
T |
8: 3,795,576 (GRCm39) |
T165N |
probably damaging |
Het |
Chid1 |
T |
C |
7: 141,076,506 (GRCm39) |
|
probably benign |
Het |
Cln3 |
A |
T |
7: 126,174,514 (GRCm39) |
|
probably null |
Het |
Cped1 |
A |
T |
6: 22,059,944 (GRCm39) |
R203S |
probably damaging |
Het |
Dele1 |
A |
T |
18: 38,385,913 (GRCm39) |
I102F |
probably damaging |
Het |
Dnttip2 |
G |
T |
3: 122,069,910 (GRCm39) |
W375L |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,629,436 (GRCm39) |
F4280S |
probably damaging |
Het |
Ephb4 |
A |
G |
5: 137,370,332 (GRCm39) |
D844G |
possibly damaging |
Het |
Fhl2 |
T |
A |
1: 43,170,879 (GRCm39) |
E145V |
probably null |
Het |
Gne |
T |
C |
4: 44,044,761 (GRCm39) |
K458E |
probably benign |
Het |
Grid2 |
G |
T |
6: 64,322,650 (GRCm39) |
R550L |
probably damaging |
Het |
Klhl1 |
T |
A |
14: 96,360,658 (GRCm39) |
T731S |
probably benign |
Het |
Kng1 |
T |
A |
16: 22,877,283 (GRCm39) |
D30E |
probably damaging |
Het |
Kyat1 |
A |
G |
2: 30,077,264 (GRCm39) |
V158A |
probably benign |
Het |
Mcm8 |
G |
T |
2: 132,681,449 (GRCm39) |
V642F |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,739,092 (GRCm39) |
H3638Y |
probably benign |
Het |
Neb |
T |
G |
2: 52,116,502 (GRCm39) |
T4158P |
probably benign |
Het |
Nfkb1 |
A |
T |
3: 135,300,724 (GRCm39) |
V614D |
probably damaging |
Het |
Or7e169 |
G |
A |
9: 19,757,861 (GRCm39) |
S18L |
probably damaging |
Het |
Otog |
T |
C |
7: 45,950,892 (GRCm39) |
S2555P |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,784,897 (GRCm39) |
R1962S |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,929,918 (GRCm39) |
Y258C |
probably damaging |
Het |
Pramel12 |
T |
A |
4: 143,144,298 (GRCm39) |
|
probably null |
Het |
Prl3a1 |
A |
G |
13: 27,454,127 (GRCm39) |
D35G |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,473,726 (GRCm39) |
V472D |
possibly damaging |
Het |
Rbpj-ps3 |
G |
A |
6: 46,506,641 (GRCm39) |
|
probably benign |
Het |
Rnf112 |
C |
T |
11: 61,340,804 (GRCm39) |
V472M |
probably damaging |
Het |
Rps18 |
A |
G |
17: 34,171,015 (GRCm39) |
|
probably benign |
Het |
Rptn |
T |
C |
3: 93,303,080 (GRCm39) |
S138P |
possibly damaging |
Het |
Sbpl |
A |
C |
17: 24,172,690 (GRCm39) |
N76K |
probably benign |
Het |
Sh3bp1 |
A |
T |
15: 78,789,364 (GRCm39) |
M241L |
probably benign |
Het |
Slc22a17 |
T |
C |
14: 55,145,433 (GRCm39) |
*198W |
probably null |
Het |
Smc3 |
C |
T |
19: 53,610,275 (GRCm39) |
R221C |
probably damaging |
Het |
Snai1 |
A |
G |
2: 167,380,768 (GRCm39) |
E87G |
probably benign |
Het |
Snx22 |
C |
A |
9: 65,976,470 (GRCm39) |
A49S |
probably benign |
Het |
Tas2r143 |
A |
T |
6: 42,377,268 (GRCm39) |
R33* |
probably null |
Het |
Try4 |
A |
G |
6: 41,281,965 (GRCm39) |
I184V |
probably benign |
Het |
Ttn |
T |
A |
2: 76,584,896 (GRCm39) |
K20355* |
probably null |
Het |
Ttn |
A |
G |
2: 76,622,069 (GRCm39) |
V15491A |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,948,237 (GRCm39) |
T293A |
probably benign |
Het |
Vmn1r170 |
A |
G |
7: 23,305,915 (GRCm39) |
T106A |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,661,817 (GRCm39) |
V666E |
probably damaging |
Het |
Vsx1 |
T |
C |
2: 150,526,495 (GRCm39) |
N221S |
possibly damaging |
Het |
Zfp846 |
A |
G |
9: 20,499,905 (GRCm39) |
E45G |
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 |
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 |
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 |