Incidental Mutation 'R8952:Neo1'
| ID |
681710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neo1
|
| Ensembl Gene |
ENSMUSG00000032340 |
| Gene Name |
neogenin |
| Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
| MMRRC Submission |
068714-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58897545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 137
(F137S)
|
| 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
AA Change: F137S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: F137S
| 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
AA Change: F137S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (45/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
T |
A |
7: 26,900,025 (GRCm39) |
S134T |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,286,065 (GRCm39) |
N758S |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,008,959 (GRCm39) |
Q287K |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,512,353 (GRCm39) |
N25K |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,417,398 (GRCm39) |
V552E |
possibly damaging |
Het |
| Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,850,958 (GRCm39) |
F848S |
probably benign |
Het |
| Dytn |
G |
A |
1: 63,698,111 (GRCm39) |
R299C |
|
Het |
| Fbxl18 |
C |
T |
5: 142,871,502 (GRCm39) |
A578T |
probably damaging |
Het |
| Galr1 |
C |
T |
18: 82,411,909 (GRCm39) |
C319Y |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,838,757 (GRCm39) |
|
probably benign |
Het |
| Hspa1l |
G |
T |
17: 35,196,946 (GRCm39) |
M328I |
probably benign |
Het |
| Itgad |
A |
T |
7: 127,789,324 (GRCm39) |
Y596F |
probably damaging |
Het |
| Krt19 |
T |
A |
11: 100,031,768 (GRCm39) |
N395Y |
possibly damaging |
Het |
| Lrit1 |
G |
A |
14: 36,783,664 (GRCm39) |
A331T |
probably damaging |
Het |
| Mmp1b |
C |
T |
9: 7,386,346 (GRCm39) |
V192I |
possibly damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,735 (GRCm39) |
A252V |
probably damaging |
Het |
| Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,299,459 (GRCm39) |
D1265G |
probably benign |
Het |
| Ndc1 |
T |
C |
4: 107,247,623 (GRCm39) |
I477T |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,836,089 (GRCm39) |
N384S |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,634,500 (GRCm39) |
I1031V |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,835,859 (GRCm39) |
Y195H |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,026,960 (GRCm39) |
C81Y |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,402 (GRCm39) |
I205V |
probably benign |
Het |
| Pfn2 |
T |
C |
3: 57,752,756 (GRCm39) |
D55G |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,499,499 (GRCm39) |
K485R |
probably damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,727 (GRCm39) |
E19G |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,491,624 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Psd |
T |
C |
19: 46,310,900 (GRCm39) |
K383R |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,944 (GRCm39) |
L385P |
probably damaging |
Het |
| Ptpra |
T |
G |
2: 130,386,969 (GRCm39) |
I620S |
probably damaging |
Het |
| Rad54l2 |
T |
A |
9: 106,566,050 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,432,861 (GRCm39) |
N262K |
probably damaging |
Het |
| Stat1 |
G |
T |
1: 52,187,042 (GRCm39) |
V450F |
probably benign |
Het |
| Thada |
G |
A |
17: 84,736,524 (GRCm39) |
T919I |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,468,992 (GRCm39) |
L529I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,748,863 (GRCm39) |
V4062A |
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,332,662 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,531 (GRCm39) |
Y117C |
possibly damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,393 (GRCm39) |
H19L |
possibly damaging |
Het |
| Wdr76 |
C |
A |
2: 121,372,899 (GRCm39) |
H575Q |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,663,875 (GRCm39) |
V348A |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,310,207 (GRCm39) |
Y780N |
possibly damaging |
Het |
| Zmynd12 |
T |
C |
4: 119,302,081 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCATCCTAAACGACTTATTACC -3'
(R):5'- AGCCAGTGTTCGAACATTCAC -3'
Sequencing Primer
(F):5'- ACCATTTAAGTGAAAAGTGTAGCAC -3'
(R):5'- GCCAGTAGACACCCTCTCAGTTAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation