Incidental Mutation 'R6912:Neo1'
ID |
539098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
045004-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6912 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58824335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 698
(T698A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063656
(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: T698A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: T698A
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: T698A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216964
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
100% (79/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
G |
A |
7: 43,150,571 (GRCm39) |
T67I |
possibly damaging |
Het |
Abca5 |
A |
T |
11: 110,197,106 (GRCm39) |
M524K |
probably benign |
Het |
Aco2 |
G |
A |
15: 81,779,597 (GRCm39) |
V134I |
probably benign |
Het |
Acsf2 |
C |
T |
11: 94,461,206 (GRCm39) |
M323I |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,337,585 (GRCm39) |
D499G |
probably benign |
Het |
Armc5 |
G |
A |
7: 127,839,597 (GRCm39) |
C305Y |
probably damaging |
Het |
Astl |
T |
C |
2: 127,198,306 (GRCm39) |
I286T |
probably benign |
Het |
Atp8a2 |
G |
A |
14: 60,249,859 (GRCm39) |
S544L |
probably benign |
Het |
Bbs7 |
G |
T |
3: 36,659,853 (GRCm39) |
A194E |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,465,207 (GRCm39) |
D1657G |
probably damaging |
Het |
Cfap46 |
G |
A |
7: 139,219,616 (GRCm39) |
S1283L |
probably benign |
Het |
Creld2 |
T |
C |
15: 88,704,200 (GRCm39) |
S64P |
probably damaging |
Het |
Crtc1 |
T |
C |
8: 70,850,961 (GRCm39) |
E217G |
probably damaging |
Het |
Cyp2d26 |
C |
T |
15: 82,675,320 (GRCm39) |
V345M |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,183,108 (GRCm39) |
M487V |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,600,036 (GRCm39) |
I3692T |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,577,748 (GRCm39) |
T3022S |
possibly damaging |
Het |
Dtnb |
A |
T |
12: 3,698,221 (GRCm39) |
|
probably null |
Het |
Erf |
T |
C |
7: 24,944,003 (GRCm39) |
T443A |
possibly damaging |
Het |
Ermp1 |
T |
A |
19: 29,594,011 (GRCm39) |
I720F |
probably benign |
Het |
Fam83b |
T |
A |
9: 76,398,214 (GRCm39) |
E963V |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,504,060 (GRCm39) |
S4463T |
probably benign |
Het |
Fbxw27 |
T |
A |
9: 109,617,148 (GRCm39) |
K118* |
probably null |
Het |
Fcgbp |
A |
T |
7: 27,789,129 (GRCm39) |
Y565F |
probably benign |
Het |
Garre1 |
A |
G |
7: 33,945,093 (GRCm39) |
S384P |
probably benign |
Het |
Gm128 |
A |
T |
3: 95,147,740 (GRCm39) |
S185T |
probably benign |
Het |
Gm6309 |
C |
T |
5: 146,105,640 (GRCm39) |
E175K |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gprin2 |
T |
C |
14: 33,916,597 (GRCm39) |
Y391C |
probably damaging |
Het |
Hexa |
T |
C |
9: 59,447,221 (GRCm39) |
L72P |
probably damaging |
Het |
Il31ra |
T |
A |
13: 112,685,998 (GRCm39) |
D124V |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,372,529 (GRCm39) |
A939T |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,542,019 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
A |
T |
7: 139,490,194 (GRCm39) |
D232V |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,348,369 (GRCm39) |
R2775S |
unknown |
Het |
Luc7l3 |
C |
T |
11: 94,200,462 (GRCm39) |
R52H |
probably damaging |
Het |
Mapk15 |
A |
T |
15: 75,865,747 (GRCm39) |
R13S |
probably damaging |
Het |
Mdga2 |
G |
T |
12: 66,552,889 (GRCm39) |
Q187K |
probably benign |
Het |
Mfsd2b |
G |
A |
12: 4,920,611 (GRCm39) |
Q69* |
probably null |
Het |
Mlph |
A |
T |
1: 90,873,342 (GRCm39) |
D551V |
probably damaging |
Het |
Mup5 |
A |
T |
4: 61,752,806 (GRCm39) |
F72L |
probably benign |
Het |
Narf |
T |
C |
11: 121,129,287 (GRCm39) |
S24P |
probably benign |
Het |
Ncapg2 |
A |
G |
12: 116,390,202 (GRCm39) |
I384V |
probably benign |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Nrros |
T |
C |
16: 31,981,057 (GRCm39) |
R24G |
probably null |
Het |
Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
Or6b1 |
T |
C |
6: 42,815,736 (GRCm39) |
V307A |
probably benign |
Het |
Pde9a |
T |
C |
17: 31,685,386 (GRCm39) |
S347P |
possibly damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,961,222 (GRCm39) |
D315G |
probably benign |
Het |
Plaat5 |
A |
G |
19: 7,616,830 (GRCm39) |
|
probably benign |
Het |
Plekha6 |
C |
T |
1: 133,200,273 (GRCm39) |
A284V |
probably benign |
Het |
Plekhg2 |
A |
G |
7: 28,059,684 (GRCm39) |
V1215A |
probably benign |
Het |
Ppif |
C |
A |
14: 25,698,711 (GRCm39) |
A144E |
probably damaging |
Het |
Ppp1r10 |
T |
C |
17: 36,240,453 (GRCm39) |
V581A |
possibly damaging |
Het |
Prr12 |
A |
G |
7: 44,698,269 (GRCm39) |
|
probably benign |
Het |
Rfx6 |
T |
C |
10: 51,599,949 (GRCm39) |
V565A |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Saxo2 |
A |
G |
7: 82,284,402 (GRCm39) |
V152A |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,793,946 (GRCm39) |
D86G |
probably benign |
Het |
Shroom3 |
A |
T |
5: 93,090,876 (GRCm39) |
M1128L |
probably benign |
Het |
Smok2a |
C |
A |
17: 13,444,543 (GRCm39) |
T40K |
probably benign |
Het |
Tatdn1 |
C |
T |
15: 58,793,118 (GRCm39) |
|
probably null |
Het |
Tbc1d2 |
C |
A |
4: 46,649,712 (GRCm39) |
G108V |
probably damaging |
Het |
Tbck |
T |
C |
3: 132,392,703 (GRCm39) |
I48T |
possibly damaging |
Het |
Tm7sf3 |
A |
G |
6: 146,527,601 (GRCm39) |
F75S |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,440,719 (GRCm39) |
D245G |
probably benign |
Het |
Trim68 |
A |
T |
7: 102,333,675 (GRCm39) |
D2E |
probably damaging |
Het |
Trps1 |
T |
A |
15: 50,685,694 (GRCm39) |
Q157L |
possibly damaging |
Het |
Ttc22 |
A |
G |
4: 106,495,800 (GRCm39) |
T385A |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,946,155 (GRCm39) |
F150I |
possibly damaging |
Het |
Ube2u |
C |
T |
4: 100,389,352 (GRCm39) |
R105W |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,185,545 (GRCm39) |
|
probably null |
Het |
Unc5b |
A |
G |
10: 60,666,871 (GRCm39) |
L25P |
probably benign |
Het |
Usp38 |
A |
G |
8: 81,719,958 (GRCm39) |
S424P |
probably damaging |
Het |
Vmn1r222 |
T |
A |
13: 23,416,374 (GRCm39) |
S280C |
probably benign |
Het |
Vmn1r59 |
A |
T |
7: 5,457,599 (GRCm39) |
F54I |
probably benign |
Het |
Vmn2r-ps117 |
T |
A |
17: 19,047,464 (GRCm39) |
C536S |
probably damaging |
Het |
Zkscan2 |
A |
C |
7: 123,099,196 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCGATGGAGGAATCCAC -3'
(R):5'- CCAAGTACCAAGGGTTCTATATGAC -3'
Sequencing Primer
(F):5'- GGAGGAATCCACCAGAGTATTTTCC -3'
(R):5'- ACCAAGGGTTCTATATGACCATTCTC -3'
|
Posted On |
2018-11-06 |