Incidental Mutation 'R7519:Neo1'
ID |
582570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
045591-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7519 (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 58785348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1453
(V1453A)
|
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: V1453A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: V1453A
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 |
possibly damaging
Transcript: ENSMUST00000214547
AA Change: V1426A
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (54/54) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
G |
A |
7: 27,274,155 (GRCm39) |
R132K |
|
Het |
Acaca |
T |
C |
11: 84,136,682 (GRCm39) |
S571P |
probably damaging |
Het |
Adamts20 |
T |
G |
15: 94,223,869 (GRCm39) |
K1286N |
possibly damaging |
Het |
Adamts7 |
A |
G |
9: 90,079,132 (GRCm39) |
D1477G |
probably benign |
Het |
Alox12b |
C |
T |
11: 69,054,039 (GRCm39) |
T207I |
probably benign |
Het |
Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
Arid1b |
CGGCGG |
CGGCGGTGGCGG |
17: 5,046,128 (GRCm39) |
|
probably benign |
Het |
Aspm |
T |
A |
1: 139,418,074 (GRCm39) |
N2934K |
possibly damaging |
Het |
Axin2 |
T |
G |
11: 108,833,072 (GRCm39) |
V419G |
probably benign |
Het |
B4galnt4 |
A |
G |
7: 140,644,257 (GRCm39) |
T108A |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 135,998,494 (GRCm39) |
R174Q |
probably damaging |
Het |
Cdh18 |
G |
T |
15: 23,474,298 (GRCm39) |
A723S |
possibly damaging |
Het |
Ces4a |
T |
C |
8: 105,871,851 (GRCm39) |
M307T |
probably damaging |
Het |
Cobl |
T |
A |
11: 12,203,124 (GRCm39) |
I1193F |
probably damaging |
Het |
Crb2 |
G |
T |
2: 37,683,332 (GRCm39) |
G945W |
probably damaging |
Het |
Ctnna1 |
T |
G |
18: 35,307,424 (GRCm39) |
I140M |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,390,629 (GRCm39) |
S3213P |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,735,785 (GRCm39) |
S258G |
probably benign |
Het |
Fbxo15 |
T |
G |
18: 84,982,359 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,785,724 (GRCm39) |
Y387C |
probably damaging |
Het |
Flt3l |
G |
A |
7: 44,783,269 (GRCm39) |
T176I |
unknown |
Het |
Galk2 |
G |
A |
2: 125,825,172 (GRCm39) |
R456H |
possibly damaging |
Het |
Gm10840 |
T |
C |
11: 106,051,716 (GRCm39) |
L14P |
unknown |
Het |
Gm5591 |
T |
C |
7: 38,220,094 (GRCm39) |
T260A |
possibly damaging |
Het |
Gm6370 |
T |
A |
5: 146,430,638 (GRCm39) |
D274E |
probably damaging |
Het |
Grhl2 |
T |
A |
15: 37,336,556 (GRCm39) |
D484E |
probably damaging |
Het |
Hbp1 |
A |
T |
12: 31,983,374 (GRCm39) |
V360D |
probably damaging |
Het |
Heatr5b |
G |
T |
17: 79,062,646 (GRCm39) |
Q1968K |
probably benign |
Het |
Igsf8 |
C |
T |
1: 172,143,874 (GRCm39) |
T72M |
probably benign |
Het |
Kera |
A |
T |
10: 97,444,884 (GRCm39) |
N81I |
probably damaging |
Het |
Klhl14 |
C |
T |
18: 21,784,900 (GRCm39) |
V176I |
probably benign |
Het |
Klrb1 |
A |
T |
6: 128,689,252 (GRCm39) |
V73E |
probably damaging |
Het |
Krtap31-2 |
T |
C |
11: 99,827,501 (GRCm39) |
L111P |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,799,725 (GRCm39) |
S106P |
probably damaging |
Het |
Nckap5l |
T |
C |
15: 99,324,128 (GRCm39) |
T792A |
probably benign |
Het |
Ndufaf4 |
A |
C |
4: 24,901,847 (GRCm39) |
T132P |
probably damaging |
Het |
Or5w13 |
T |
C |
2: 87,523,753 (GRCm39) |
I158V |
probably benign |
Het |
Or6c76 |
A |
C |
10: 129,612,091 (GRCm39) |
I103L |
probably benign |
Het |
Pcdha11 |
T |
A |
18: 37,139,319 (GRCm39) |
L316* |
probably null |
Het |
Pcdha7 |
T |
C |
18: 37,109,285 (GRCm39) |
M770T |
possibly damaging |
Het |
Pcsk1 |
T |
C |
13: 75,258,984 (GRCm39) |
S253P |
probably damaging |
Het |
Phtf1 |
T |
C |
3: 103,876,435 (GRCm39) |
Y12H |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,792,268 (GRCm39) |
N508S |
probably benign |
Het |
Pla1a |
A |
G |
16: 38,235,208 (GRCm39) |
I162T |
possibly damaging |
Het |
Rb1 |
A |
T |
14: 73,502,048 (GRCm39) |
L446M |
probably damaging |
Het |
Retn |
A |
T |
8: 3,706,079 (GRCm39) |
S22C |
probably damaging |
Het |
Snx25 |
A |
G |
8: 46,569,309 (GRCm39) |
L196P |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Spata31d1b |
G |
A |
13: 59,864,726 (GRCm39) |
D625N |
probably benign |
Het |
Sycp2 |
T |
C |
2: 177,988,126 (GRCm39) |
*1501W |
probably null |
Het |
Tarbp1 |
T |
G |
8: 127,160,639 (GRCm39) |
T1271P |
possibly damaging |
Het |
Uba1y |
T |
C |
Y: 821,567 (GRCm39) |
F154L |
probably benign |
Het |
Ubr1 |
T |
A |
2: 120,705,925 (GRCm39) |
I1513F |
possibly damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,804,524 (GRCm39) |
Q132L |
probably benign |
Het |
Vwf |
A |
T |
6: 125,644,506 (GRCm39) |
T2454S |
|
Het |
Wdr33 |
C |
A |
18: 32,029,823 (GRCm39) |
F1007L |
unknown |
Het |
Zfp398 |
A |
G |
6: 47,836,407 (GRCm39) |
H201R |
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 |
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 |
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'- CTCCAAGGACACCTGTTTGATG -3'
(R):5'- ATCCCTGTCTGAGCCTACAAG -3'
Sequencing Primer
(F):5'- CCTGTTTGATGAGTGATTAAATCTGC -3'
(R):5'- TGTCTGAGCCTACAAGCATCC -3'
|
Posted On |
2019-10-17 |