Incidental Mutation 'R5470:Neo1'
ID |
433472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
043031-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5470 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 58838350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 478
(A478D)
|
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: A478D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: A478D
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: A478D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215026
|
Predicted Effect |
unknown
Transcript: ENSMUST00000216964
AA Change: A205D
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217545
|
Meta Mutation Damage Score |
0.7594 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
Validation Efficiency |
99% (79/80) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
A |
12: 80,215,715 (GRCm39) |
I813F |
probably damaging |
Het |
Aqr |
G |
A |
2: 113,988,056 (GRCm39) |
L169F |
probably damaging |
Het |
Atp6v1d |
G |
A |
12: 78,892,058 (GRCm39) |
R182C |
probably benign |
Het |
Bcl2l13 |
G |
T |
6: 120,839,833 (GRCm39) |
A44S |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,039,368 (GRCm39) |
K389E |
possibly damaging |
Het |
C530025M09Rik |
G |
A |
2: 149,673,045 (GRCm39) |
|
probably benign |
Het |
Ccdc7b |
T |
A |
8: 129,799,081 (GRCm39) |
S53T |
possibly damaging |
Het |
Chd8 |
A |
G |
14: 52,450,066 (GRCm39) |
F154L |
probably damaging |
Het |
Cop1 |
A |
T |
1: 159,094,430 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
G |
19: 39,501,974 (GRCm39) |
K121R |
possibly damaging |
Het |
Cyp3a57 |
A |
G |
5: 145,309,429 (GRCm39) |
M256V |
probably benign |
Het |
Deup1 |
T |
C |
9: 15,493,916 (GRCm39) |
|
probably null |
Het |
Dnah10 |
A |
G |
5: 124,830,232 (GRCm39) |
N709D |
probably benign |
Het |
Dthd1 |
A |
G |
5: 62,976,109 (GRCm39) |
Y261C |
probably damaging |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
En2 |
C |
T |
5: 28,371,922 (GRCm39) |
T133M |
probably benign |
Het |
Endou |
A |
G |
15: 97,616,836 (GRCm39) |
F229S |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,534,791 (GRCm39) |
H79L |
probably damaging |
Het |
Fah |
C |
T |
7: 84,242,393 (GRCm39) |
|
probably null |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fignl1 |
T |
A |
11: 11,752,640 (GRCm39) |
E138D |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,812,008 (GRCm39) |
L311P |
possibly damaging |
Het |
Gdf9 |
T |
A |
11: 53,327,581 (GRCm39) |
V179E |
probably benign |
Het |
Gm14129 |
G |
T |
2: 148,769,737 (GRCm39) |
|
noncoding transcript |
Het |
Gorab |
A |
G |
1: 163,220,078 (GRCm39) |
I188T |
probably damaging |
Het |
Gpr152 |
G |
A |
19: 4,193,128 (GRCm39) |
C223Y |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,129,008 (GRCm39) |
|
probably null |
Het |
Hsd17b3 |
G |
T |
13: 64,221,713 (GRCm39) |
T104N |
probably damaging |
Het |
Il6ra |
C |
T |
3: 89,793,302 (GRCm39) |
V283M |
probably benign |
Het |
Klk1b16 |
A |
T |
7: 43,786,755 (GRCm39) |
I5F |
probably damaging |
Het |
Krt74 |
G |
A |
15: 101,662,900 (GRCm39) |
|
noncoding transcript |
Het |
Lrch3 |
T |
A |
16: 32,818,960 (GRCm39) |
N650K |
probably damaging |
Het |
Ly96 |
A |
T |
1: 16,779,710 (GRCm39) |
E126D |
probably benign |
Het |
Mgarp |
C |
A |
3: 51,298,706 (GRCm39) |
R66L |
possibly damaging |
Het |
Naalad2 |
T |
A |
9: 18,242,147 (GRCm39) |
T586S |
probably damaging |
Het |
Ndufaf3 |
T |
C |
9: 108,443,643 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,139,450 (GRCm39) |
M3055T |
possibly damaging |
Het |
Nmrk1 |
A |
T |
19: 18,617,248 (GRCm39) |
|
probably null |
Het |
Nsl1 |
T |
C |
1: 190,812,737 (GRCm39) |
M184T |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,657,705 (GRCm39) |
N410S |
probably benign |
Het |
Opalin |
A |
G |
19: 41,054,970 (GRCm39) |
S75P |
probably benign |
Het |
Or1e17 |
T |
C |
11: 73,831,696 (GRCm39) |
I208T |
probably benign |
Het |
Or3a4 |
A |
G |
11: 73,944,733 (GRCm39) |
I284T |
possibly damaging |
Het |
Or51ag1 |
T |
G |
7: 103,155,716 (GRCm39) |
I146L |
probably benign |
Het |
Palb2 |
C |
A |
7: 121,713,574 (GRCm39) |
C903F |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,740,720 (GRCm39) |
W989R |
probably damaging |
Het |
Pfkfb4 |
T |
A |
9: 108,856,661 (GRCm39) |
I389N |
probably damaging |
Het |
Pitrm1 |
T |
C |
13: 6,603,306 (GRCm39) |
C119R |
probably benign |
Het |
Plekha1 |
T |
C |
7: 130,510,106 (GRCm39) |
V45A |
probably damaging |
Het |
Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
Rcan2 |
A |
G |
17: 44,147,174 (GRCm39) |
D4G |
probably benign |
Het |
Slc12a1 |
A |
T |
2: 125,012,634 (GRCm39) |
T299S |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,138,880 (GRCm39) |
H527Q |
probably benign |
Het |
Slc22a8 |
G |
A |
19: 8,585,234 (GRCm39) |
R261H |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slco4a1 |
T |
C |
2: 180,115,907 (GRCm39) |
F681S |
probably benign |
Het |
Sorcs2 |
A |
T |
5: 36,188,527 (GRCm39) |
H860Q |
probably benign |
Het |
Strn |
A |
T |
17: 78,964,374 (GRCm39) |
H530Q |
probably benign |
Het |
Tex14 |
A |
G |
11: 87,442,430 (GRCm39) |
R179G |
probably damaging |
Het |
Tjp3 |
T |
C |
10: 81,115,381 (GRCm39) |
D350G |
probably benign |
Het |
Tnrc6b |
G |
T |
15: 80,800,912 (GRCm39) |
R1406L |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,935,947 (GRCm39) |
D2666G |
probably null |
Het |
Ttn |
A |
T |
2: 76,560,208 (GRCm39) |
Y27652N |
probably benign |
Het |
Utp20 |
T |
A |
10: 88,653,758 (GRCm39) |
E287D |
probably benign |
Het |
Vmn1r45 |
T |
C |
6: 89,910,698 (GRCm39) |
I91V |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,046,981 (GRCm39) |
K76* |
probably null |
Het |
Zfp689 |
C |
T |
7: 127,043,425 (GRCm39) |
A402T |
probably damaging |
Het |
Zfpm1 |
A |
G |
8: 123,060,532 (GRCm39) |
E207G |
probably damaging |
Het |
Zhx2 |
G |
T |
15: 57,686,470 (GRCm39) |
R613L |
possibly 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 |
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 |
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'- CCTGCACAATAAAACAGGGTG -3'
(R):5'- TACCCCAGCCTGCATGTTAG -3'
Sequencing Primer
(F):5'- GGTGAGCATGACCAGGC -3'
(R):5'- AGCCTGCATGTTAGCCTTCAG -3'
|
Posted On |
2016-10-06 |