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 |
58874687-59036441 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58917052 bp (GRCm38)
|
| 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: 43,501,147 (GRCm38) |
T67I |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,306,280 (GRCm38) |
M524K |
probably benign |
Het |
| Aco2 |
G |
A |
15: 81,895,396 (GRCm38) |
V134I |
probably benign |
Het |
| Acsf2 |
C |
T |
11: 94,570,380 (GRCm38) |
M323I |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,447,573 (GRCm38) |
D499G |
probably benign |
Het |
| Armc5 |
G |
A |
7: 128,240,425 (GRCm38) |
C305Y |
probably damaging |
Het |
| Astl |
T |
C |
2: 127,356,386 (GRCm38) |
I286T |
probably benign |
Het |
| Atp8a2 |
G |
A |
14: 60,012,410 (GRCm38) |
S544L |
probably benign |
Het |
| Bbs7 |
G |
T |
3: 36,605,704 (GRCm38) |
A194E |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,541,742 (GRCm38) |
D1657G |
probably damaging |
Het |
| Cfap46 |
G |
A |
7: 139,639,700 (GRCm38) |
S1283L |
probably benign |
Het |
| Creld2 |
T |
C |
15: 88,819,997 (GRCm38) |
S64P |
probably damaging |
Het |
| Crtc1 |
T |
C |
8: 70,398,311 (GRCm38) |
E217G |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,791,119 (GRCm38) |
V345M |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,294,871 (GRCm38) |
M487V |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,878,079 (GRCm38) |
I3692T |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,750,183 (GRCm38) |
T3022S |
possibly damaging |
Het |
| Dtnb |
A |
T |
12: 3,648,221 (GRCm38) |
|
probably null |
Het |
| Erf |
T |
C |
7: 25,244,578 (GRCm38) |
T443A |
possibly damaging |
Het |
| Ermp1 |
T |
A |
19: 29,616,611 (GRCm38) |
I720F |
probably benign |
Het |
| Fam83b |
T |
A |
9: 76,490,932 (GRCm38) |
E963V |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,051,023 (GRCm38) |
S4463T |
probably benign |
Het |
| Fbxw27 |
T |
A |
9: 109,788,080 (GRCm38) |
K118* |
probably null |
Het |
| Fcgbp |
A |
T |
7: 28,089,704 (GRCm38) |
Y565F |
probably benign |
Het |
| Garre1 |
A |
G |
7: 34,245,668 (GRCm38) |
S384P |
probably benign |
Het |
| Gm128 |
A |
T |
3: 95,240,429 (GRCm38) |
S185T |
probably benign |
Het |
| Gm6309 |
C |
T |
5: 146,168,830 (GRCm38) |
E175K |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,244,184 (GRCm38) |
R47H |
probably damaging |
Het |
| Gprin2 |
T |
C |
14: 34,194,640 (GRCm38) |
Y391C |
probably damaging |
Het |
| Hexa |
T |
C |
9: 59,539,938 (GRCm38) |
L72P |
probably damaging |
Het |
| Il31ra |
T |
A |
13: 112,549,464 (GRCm38) |
D124V |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,322,501 (GRCm38) |
A939T |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,700,099 (GRCm38) |
|
probably benign |
Het |
| Kndc1 |
A |
T |
7: 139,910,278 (GRCm38) |
D232V |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,457,543 (GRCm38) |
R2775S |
unknown |
Het |
| Luc7l3 |
C |
T |
11: 94,309,636 (GRCm38) |
R52H |
probably damaging |
Het |
| Mapk15 |
A |
T |
15: 75,993,898 (GRCm38) |
R13S |
probably damaging |
Het |
| Mdga2 |
G |
T |
12: 66,506,115 (GRCm38) |
Q187K |
probably benign |
Het |
| Mfsd2b |
G |
A |
12: 4,870,611 (GRCm38) |
Q69* |
probably null |
Het |
| Mlph |
A |
T |
1: 90,945,620 (GRCm38) |
D551V |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,834,569 (GRCm38) |
F72L |
probably benign |
Het |
| Narf |
T |
C |
11: 121,238,461 (GRCm38) |
S24P |
probably benign |
Het |
| Ncapg2 |
A |
G |
12: 116,426,582 (GRCm38) |
I384V |
probably benign |
Het |
| Nox3 |
A |
G |
17: 3,685,923 (GRCm38) |
S143P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 32,162,239 (GRCm38) |
R24G |
probably null |
Het |
| Or10ak9 |
T |
A |
4: 118,869,138 (GRCm38) |
M119K |
probably damaging |
Het |
| Or6b1 |
T |
C |
6: 42,838,802 (GRCm38) |
V307A |
probably benign |
Het |
| Pde9a |
T |
C |
17: 31,466,412 (GRCm38) |
S347P |
possibly damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,070,396 (GRCm38) |
D315G |
probably benign |
Het |
| Plaat5 |
A |
G |
19: 7,639,465 (GRCm38) |
|
probably benign |
Het |
| Plekha6 |
C |
T |
1: 133,272,535 (GRCm38) |
A284V |
probably benign |
Het |
| Plekhg2 |
A |
G |
7: 28,360,259 (GRCm38) |
V1215A |
probably benign |
Het |
| Ppif |
C |
A |
14: 25,698,287 (GRCm38) |
A144E |
probably damaging |
Het |
| Ppp1r10 |
T |
C |
17: 35,929,561 (GRCm38) |
V581A |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 45,048,845 (GRCm38) |
|
probably benign |
Het |
| Rfx6 |
T |
C |
10: 51,723,853 (GRCm38) |
V565A |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,994,649 (GRCm38) |
P44L |
unknown |
Het |
| Saxo2 |
A |
G |
7: 82,635,194 (GRCm38) |
V152A |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,903,120 (GRCm38) |
D86G |
probably benign |
Het |
| Shroom3 |
A |
T |
5: 92,943,017 (GRCm38) |
M1128L |
probably benign |
Het |
| Smok2a |
C |
A |
17: 13,225,656 (GRCm38) |
T40K |
probably benign |
Het |
| Tatdn1 |
C |
T |
15: 58,921,269 (GRCm38) |
|
probably null |
Het |
| Tbc1d2 |
C |
A |
4: 46,649,712 (GRCm38) |
G108V |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,686,942 (GRCm38) |
I48T |
possibly damaging |
Het |
| Tm7sf3 |
A |
G |
6: 146,626,103 (GRCm38) |
F75S |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,598,799 (GRCm38) |
D245G |
probably benign |
Het |
| Trim68 |
A |
T |
7: 102,684,468 (GRCm38) |
D2E |
probably damaging |
Het |
| Trps1 |
T |
A |
15: 50,822,298 (GRCm38) |
Q157L |
possibly damaging |
Het |
| Ttc22 |
A |
G |
4: 106,638,603 (GRCm38) |
T385A |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 90,038,848 (GRCm38) |
F150I |
possibly damaging |
Het |
| Ube2u |
C |
T |
4: 100,532,155 (GRCm38) |
R105W |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,458,234 (GRCm38) |
|
probably null |
Het |
| Unc5b |
A |
G |
10: 60,831,092 (GRCm38) |
L25P |
probably benign |
Het |
| Usp38 |
A |
G |
8: 80,993,329 (GRCm38) |
S424P |
probably damaging |
Het |
| Vmn1r222 |
T |
A |
13: 23,232,204 (GRCm38) |
S280C |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,454,600 (GRCm38) |
F54I |
probably benign |
Het |
| Vmn2r-ps117 |
T |
A |
17: 18,827,202 (GRCm38) |
C536S |
probably damaging |
Het |
| Zkscan2 |
A |
C |
7: 123,499,973 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Neo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Neo1
|
APN |
9 |
58,921,919 (GRCm38) |
splice site |
probably benign |
|
|
IGL00885:Neo1
|
APN |
9 |
58,888,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01103:Neo1
|
APN |
9 |
58,880,799 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
IGL01322:Neo1
|
APN |
9 |
58,907,085 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02216:Neo1
|
APN |
9 |
58,917,053 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02327:Neo1
|
APN |
9 |
58,903,088 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02392:Neo1
|
APN |
9 |
58,925,811 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL02458:Neo1
|
APN |
9 |
58,893,867 (GRCm38) |
splice site |
probably benign |
|
|
IGL03057:Neo1
|
APN |
9 |
58,878,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03091:Neo1
|
APN |
9 |
58,978,668 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03193:Neo1
|
APN |
9 |
58,908,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0097:Neo1
|
UTSW |
9 |
58,882,021 (GRCm38) |
intron |
probably benign |
|
|
R0419:Neo1
|
UTSW |
9 |
58,990,180 (GRCm38) |
splice site |
probably benign |
|
|
R0571:Neo1
|
UTSW |
9 |
58,985,786 (GRCm38) |
missense |
probably benign |
|
|
R0646:Neo1
|
UTSW |
9 |
58,931,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0736:Neo1
|
UTSW |
9 |
58,917,081 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0739:Neo1
|
UTSW |
9 |
58,921,877 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1636:Neo1
|
UTSW |
9 |
58,913,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1694:Neo1
|
UTSW |
9 |
58,880,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1827:Neo1
|
UTSW |
9 |
58,917,031 (GRCm38) |
nonsense |
probably null |
|
|
R1927:Neo1
|
UTSW |
9 |
58,990,385 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2354:Neo1
|
UTSW |
9 |
58,985,634 (GRCm38) |
missense |
probably benign |
|
|
R2365:Neo1
|
UTSW |
9 |
58,956,003 (GRCm38) |
missense |
probably benign |
|
|
R3156:Neo1
|
UTSW |
9 |
58,888,979 (GRCm38) |
splice site |
probably null |
|
|
R3552:Neo1
|
UTSW |
9 |
58,893,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3829:Neo1
|
UTSW |
9 |
58,913,169 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4477:Neo1
|
UTSW |
9 |
58,877,299 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4613:Neo1
|
UTSW |
9 |
58,889,041 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5023:Neo1
|
UTSW |
9 |
58,990,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5046:Neo1
|
UTSW |
9 |
58,893,911 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5057:Neo1
|
UTSW |
9 |
58,990,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5323:Neo1
|
UTSW |
9 |
58,906,648 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5394:Neo1
|
UTSW |
9 |
58,990,234 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5470:Neo1
|
UTSW |
9 |
58,931,067 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5473:Neo1
|
UTSW |
9 |
58,880,843 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5500:Neo1
|
UTSW |
9 |
58,917,054 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5503:Neo1
|
UTSW |
9 |
58,985,650 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6122:Neo1
|
UTSW |
9 |
58,917,008 (GRCm38) |
missense |
probably benign |
|
|
R6191:Neo1
|
UTSW |
9 |
58,889,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6431:Neo1
|
UTSW |
9 |
58,907,071 (GRCm38) |
missense |
probably benign |
0.27 |
|
R6560:Neo1
|
UTSW |
9 |
58,880,601 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6658:Neo1
|
UTSW |
9 |
58,921,849 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6772:Neo1
|
UTSW |
9 |
58,902,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7061:Neo1
|
UTSW |
9 |
58,990,441 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7145:Neo1
|
UTSW |
9 |
58,889,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7156:Neo1
|
UTSW |
9 |
58,902,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7485:Neo1
|
UTSW |
9 |
58,884,543 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7519:Neo1
|
UTSW |
9 |
58,878,065 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7615:Neo1
|
UTSW |
9 |
58,884,503 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7665:Neo1
|
UTSW |
9 |
58,925,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7695:Neo1
|
UTSW |
9 |
58,902,929 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7753:Neo1
|
UTSW |
9 |
58,956,005 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7807:Neo1
|
UTSW |
9 |
58,990,494 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7915:Neo1
|
UTSW |
9 |
58,930,981 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7973:Neo1
|
UTSW |
9 |
58,990,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8356:Neo1
|
UTSW |
9 |
58,878,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8505:Neo1
|
UTSW |
9 |
58,913,283 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8700:Neo1
|
UTSW |
9 |
58,918,630 (GRCm38) |
missense |
probably benign |
0.28 |
|
R8798:Neo1
|
UTSW |
9 |
58,913,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8952:Neo1
|
UTSW |
9 |
58,990,262 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9779:Neo1
|
UTSW |
9 |
58,978,726 (GRCm38) |
nonsense |
probably null |
|
|
R9784:Neo1
|
UTSW |
9 |
58,982,220 (GRCm38) |
missense |
probably benign |
|
|
R9789:Neo1
|
UTSW |
9 |
58,894,024 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
X0063:Neo1
|
UTSW |
9 |
58,990,298 (GRCm38) |
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 |
Incidental Mutation