Incidental Mutation 'R5473:Neo1'
ID |
433932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
043034-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5473 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58788126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1309
(N1309S)
|
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: N1336S
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: N1336S
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: N1309S
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.0841 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
Validation Efficiency |
100% (66/66) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
T |
C |
7: 119,312,173 (GRCm39) |
Y549H |
probably damaging |
Het |
Adamtsl4 |
G |
T |
3: 95,587,303 (GRCm39) |
Q758K |
probably damaging |
Het |
Anapc1 |
G |
T |
2: 128,449,115 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
A |
T |
6: 118,492,797 (GRCm39) |
C1316S |
probably benign |
Het |
Birc5 |
T |
C |
11: 117,743,533 (GRCm39) |
V89A |
possibly damaging |
Het |
Camk2d |
G |
T |
3: 126,391,048 (GRCm39) |
|
probably benign |
Het |
Ccdc47 |
A |
T |
11: 106,095,855 (GRCm39) |
S280R |
probably damaging |
Het |
Cntnap5a |
T |
A |
1: 116,016,986 (GRCm39) |
F193Y |
probably benign |
Het |
Cntrob |
G |
T |
11: 69,213,579 (GRCm39) |
D70E |
possibly damaging |
Het |
Col24a1 |
A |
C |
3: 145,243,016 (GRCm39) |
M1519L |
probably benign |
Het |
Col2a1 |
G |
T |
15: 97,885,370 (GRCm39) |
A491D |
unknown |
Het |
Crat |
A |
G |
2: 30,297,726 (GRCm39) |
L266P |
probably damaging |
Het |
Dlgap1 |
A |
T |
17: 70,824,025 (GRCm39) |
|
probably benign |
Het |
Dnaaf10 |
T |
C |
11: 17,174,591 (GRCm39) |
V153A |
probably damaging |
Het |
Eya4 |
T |
A |
10: 23,039,351 (GRCm39) |
H104L |
probably benign |
Het |
Fam83b |
T |
C |
9: 76,398,782 (GRCm39) |
K774E |
probably damaging |
Het |
Fgd6 |
T |
C |
10: 93,880,538 (GRCm39) |
I464T |
probably benign |
Het |
Gorasp2 |
A |
C |
2: 70,508,950 (GRCm39) |
M123L |
probably damaging |
Het |
H2-M10.3 |
A |
T |
17: 36,678,261 (GRCm39) |
V188E |
probably damaging |
Het |
Hnrnpk |
A |
T |
13: 58,541,913 (GRCm39) |
W333R |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,154,985 (GRCm39) |
Y175H |
probably benign |
Het |
Igf2r |
G |
T |
17: 12,914,201 (GRCm39) |
T1756K |
probably benign |
Het |
Kcnq5 |
A |
G |
1: 21,527,626 (GRCm39) |
|
probably null |
Het |
Kiz |
G |
T |
2: 146,811,915 (GRCm39) |
E675* |
probably null |
Het |
Mcm3ap |
T |
G |
10: 76,338,593 (GRCm39) |
L1407R |
probably damaging |
Het |
Mdc1 |
A |
G |
17: 36,158,952 (GRCm39) |
D444G |
probably benign |
Het |
Myl3 |
C |
A |
9: 110,597,026 (GRCm39) |
H129N |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,897,520 (GRCm39) |
Y269N |
probably damaging |
Het |
Nsd1 |
A |
G |
13: 55,395,585 (GRCm39) |
N1165S |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,334,856 (GRCm39) |
D302G |
probably benign |
Het |
Olfr908 |
A |
G |
9: 38,427,508 (GRCm39) |
Y60C |
probably damaging |
Het |
Or10j3 |
G |
C |
1: 173,031,732 (GRCm39) |
G270R |
probably benign |
Het |
Or14j1 |
T |
C |
17: 38,146,630 (GRCm39) |
F247L |
probably benign |
Het |
Or5d38 |
A |
T |
2: 87,954,981 (GRCm39) |
M116K |
possibly damaging |
Het |
Oxsm |
A |
T |
14: 16,242,045 (GRCm38) |
S241R |
probably damaging |
Het |
Pde1a |
G |
T |
2: 79,736,372 (GRCm39) |
S87R |
probably damaging |
Het |
Plagl2 |
A |
T |
2: 153,074,114 (GRCm39) |
C262* |
probably null |
Het |
Plcg2 |
A |
G |
8: 118,361,140 (GRCm39) |
K1233R |
probably benign |
Het |
Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
Ppfia1 |
A |
T |
7: 144,045,229 (GRCm39) |
M951K |
probably benign |
Het |
Pramel12 |
A |
G |
4: 143,145,874 (GRCm39) |
R448G |
probably damaging |
Het |
Prpf31 |
A |
G |
7: 3,642,824 (GRCm39) |
K438E |
probably benign |
Het |
Pum3 |
C |
A |
19: 27,396,248 (GRCm39) |
V328F |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,723,495 (GRCm39) |
E1677G |
probably benign |
Het |
Rpf2 |
A |
G |
10: 40,103,627 (GRCm39) |
V96A |
possibly damaging |
Het |
Rsrc2 |
C |
T |
5: 123,869,150 (GRCm39) |
A98T |
probably damaging |
Het |
Saraf |
G |
A |
8: 34,628,412 (GRCm39) |
R86Q |
probably damaging |
Het |
Scara5 |
T |
A |
14: 65,977,788 (GRCm39) |
D349E |
possibly damaging |
Het |
Slc30a1 |
T |
C |
1: 191,641,734 (GRCm39) |
V460A |
possibly damaging |
Het |
Tdrd7 |
G |
T |
4: 46,020,877 (GRCm39) |
V768L |
possibly damaging |
Het |
Tshz2 |
T |
C |
2: 169,725,718 (GRCm39) |
S105P |
probably benign |
Het |
Ufsp2 |
A |
G |
8: 46,445,258 (GRCm39) |
I362M |
probably damaging |
Het |
Ugt1a7c |
T |
A |
1: 88,023,159 (GRCm39) |
I106K |
probably benign |
Het |
Zdhhc5 |
A |
G |
2: 84,520,810 (GRCm39) |
Y456H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTAATGGTGTGCTTGGCAG -3'
(R):5'- ATTCTTAGCCTTGGCTGTCG -3'
Sequencing Primer
(F):5'- CTTGGCAGTGCAGGATCATAG -3'
(R):5'- GCTGTCGTCCTGATCCGTG -3'
|
Posted On |
2016-10-06 |