Incidental Mutation 'R8356:Neo1'
ID |
660345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
067870-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8356 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58785402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1408
(T1408M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068664]
[ENSMUST00000214547]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068664
AA Change: T1435M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: T1435M
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 damaging
Transcript: ENSMUST00000214547
AA Change: T1408M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (58/58) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700069L16Rik |
T |
A |
5: 113,861,868 (GRCm39) |
M1L |
unknown |
Het |
Abcc9 |
A |
T |
6: 142,536,096 (GRCm39) |
M1546K |
probably benign |
Het |
Acbd3 |
T |
C |
1: 180,553,881 (GRCm39) |
M72T |
probably benign |
Het |
Adam6a |
T |
G |
12: 113,509,757 (GRCm39) |
L710R |
probably benign |
Het |
Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,568,737 (GRCm39) |
L47Q |
probably damaging |
Het |
Arhgap19 |
G |
A |
19: 41,762,615 (GRCm39) |
R414C |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,526,003 (GRCm39) |
S572P |
probably benign |
Het |
Cdk10 |
G |
A |
8: 123,955,096 (GRCm39) |
R78H |
probably benign |
Het |
Celsr2 |
C |
T |
3: 108,320,847 (GRCm39) |
R655H |
possibly damaging |
Het |
Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
Cpped1 |
A |
T |
16: 11,712,793 (GRCm39) |
C32* |
probably null |
Het |
Ddi1 |
A |
G |
9: 6,266,249 (GRCm39) |
V40A |
probably benign |
Het |
Ddx50 |
T |
C |
10: 62,457,287 (GRCm39) |
T588A |
probably benign |
Het |
Degs2 |
A |
G |
12: 108,658,223 (GRCm39) |
I252T |
possibly damaging |
Het |
Dnah1 |
C |
T |
14: 30,994,972 (GRCm39) |
V2762I |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,444,313 (GRCm39) |
D4037G |
probably benign |
Het |
Dnah5 |
C |
T |
15: 28,444,469 (GRCm39) |
A4089V |
probably null |
Het |
Dthd1 |
A |
T |
5: 63,007,081 (GRCm39) |
D594V |
probably damaging |
Het |
Ehmt1 |
A |
T |
2: 24,742,781 (GRCm39) |
M466K |
probably benign |
Het |
Erich2 |
A |
T |
2: 70,357,873 (GRCm39) |
|
probably null |
Het |
Fam221b |
T |
C |
4: 43,665,519 (GRCm39) |
D313G |
probably benign |
Het |
Fbxl22 |
T |
C |
9: 66,421,732 (GRCm39) |
D35G |
possibly damaging |
Het |
Ggcx |
A |
G |
6: 72,406,574 (GRCm39) |
E679G |
probably benign |
Het |
Gm14295 |
A |
G |
2: 176,501,307 (GRCm39) |
T266A |
probably benign |
Het |
Hnrnpa1 |
A |
G |
15: 103,150,529 (GRCm39) |
D160G |
probably null |
Het |
Hnrnpul1 |
T |
C |
7: 25,422,247 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
G |
8: 111,259,756 (GRCm39) |
E2576G |
possibly damaging |
Het |
Ifit2 |
T |
A |
19: 34,550,908 (GRCm39) |
C149* |
probably null |
Het |
Il18rap |
T |
A |
1: 40,564,084 (GRCm39) |
S67R |
probably benign |
Het |
Kcnk4 |
T |
G |
19: 6,903,668 (GRCm39) |
S294R |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,100,683 (GRCm39) |
H1588R |
probably damaging |
Het |
Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
Lats2 |
A |
T |
14: 57,934,867 (GRCm39) |
M228K |
probably damaging |
Het |
Lrfn4 |
T |
C |
19: 4,662,256 (GRCm39) |
D587G |
probably benign |
Het |
Lrrd1 |
C |
A |
5: 3,916,509 (GRCm39) |
T842K |
probably benign |
Het |
Mafb |
G |
A |
2: 160,208,125 (GRCm39) |
H158Y |
probably benign |
Het |
Mapk8ip3 |
T |
A |
17: 25,123,925 (GRCm39) |
E561D |
probably damaging |
Het |
Mcemp1 |
A |
G |
8: 3,717,542 (GRCm39) |
T158A |
probably damaging |
Het |
Mst1r |
A |
T |
9: 107,794,463 (GRCm39) |
E1214V |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,570,074 (GRCm39) |
I815T |
unknown |
Het |
Ncoa6 |
T |
A |
2: 155,248,172 (GRCm39) |
I1711L |
possibly damaging |
Het |
Niban1 |
T |
A |
1: 151,571,901 (GRCm39) |
V282D |
probably damaging |
Het |
Nnt |
A |
C |
13: 119,476,368 (GRCm39) |
F632C |
probably damaging |
Het |
Nup210 |
G |
A |
6: 91,051,330 (GRCm39) |
T351I |
probably benign |
Het |
Or4f59 |
A |
G |
2: 111,872,943 (GRCm39) |
S145P |
probably damaging |
Het |
Or52e18 |
A |
G |
7: 104,609,934 (GRCm39) |
S2P |
probably benign |
Het |
P4ha1 |
C |
T |
10: 59,191,185 (GRCm39) |
T364I |
probably damaging |
Het |
Pcdhb11 |
T |
A |
18: 37,555,252 (GRCm39) |
L194Q |
probably damaging |
Het |
Pramel52-ps |
A |
G |
5: 94,531,703 (GRCm39) |
K196E |
probably damaging |
Het |
Rad51ap1 |
A |
G |
6: 126,901,879 (GRCm39) |
|
probably null |
Het |
Rbm11 |
G |
A |
16: 75,397,694 (GRCm39) |
R208K |
probably benign |
Het |
Rps6ka1 |
T |
A |
4: 133,587,368 (GRCm39) |
Q535L |
possibly damaging |
Het |
Slc26a3 |
A |
G |
12: 31,516,505 (GRCm39) |
D621G |
probably benign |
Het |
Sox10 |
T |
G |
15: 79,040,652 (GRCm39) |
E296A |
probably damaging |
Het |
St3gal4 |
A |
C |
9: 34,964,438 (GRCm39) |
V188G |
probably damaging |
Het |
Trim34a |
A |
T |
7: 103,910,178 (GRCm39) |
I327F |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Zc2hc1c |
A |
G |
12: 85,337,471 (GRCm39) |
E376G |
probably damaging |
Het |
Zfp423 |
G |
A |
8: 88,509,910 (GRCm39) |
P77S |
probably damaging |
Het |
Zfp560 |
A |
T |
9: 20,260,231 (GRCm39) |
S210R |
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 |
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 |
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'- TCCAAGGACACCTGTTTGATG -3'
(R):5'- TCAGAGCAGATCCCTGTCTG -3'
Sequencing Primer
(F):5'- ATCTATGGTGGCAAAGACCTC -3'
(R):5'- GATCCCTGTCTGAGCCTACAAG -3'
|
Posted On |
2021-01-18 |