Incidental Mutation 'R4613:Neo1'
ID |
350981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
041824-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4613 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58796324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1201
(I1201T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068664]
[ENSMUST00000214547]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068664
AA Change: I1228T
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: I1228T
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: I1201T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215165
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
T |
17: 48,439,167 (GRCm39) |
L130I |
probably benign |
Het |
Abca9 |
A |
G |
11: 110,035,610 (GRCm39) |
V670A |
probably benign |
Het |
Adad1 |
A |
G |
3: 37,146,182 (GRCm39) |
N517D |
probably damaging |
Het |
Ankle2 |
T |
C |
5: 110,379,245 (GRCm39) |
L48P |
probably benign |
Het |
Aoc3 |
A |
T |
11: 101,228,485 (GRCm39) |
|
probably benign |
Het |
Areg |
A |
G |
5: 91,291,363 (GRCm39) |
K102R |
probably benign |
Het |
Bmp1 |
T |
C |
14: 70,745,963 (GRCm39) |
T167A |
probably damaging |
Het |
C4b |
C |
T |
17: 34,953,525 (GRCm39) |
G986D |
probably benign |
Het |
Caml |
G |
T |
13: 55,772,955 (GRCm39) |
G200C |
probably damaging |
Het |
Ccdc40 |
A |
C |
11: 119,122,358 (GRCm39) |
R53S |
probably benign |
Het |
Cdh22 |
T |
A |
2: 164,985,576 (GRCm39) |
I337L |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,554,883 (GRCm39) |
V2065D |
probably benign |
Het |
Copg2 |
A |
G |
6: 30,788,531 (GRCm39) |
S591P |
probably benign |
Het |
Cyp2d34 |
G |
A |
15: 82,500,526 (GRCm39) |
P438S |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,421,931 (GRCm39) |
D163G |
probably damaging |
Het |
Depdc1b |
T |
C |
13: 108,500,177 (GRCm39) |
V230A |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,132,790 (GRCm39) |
L1300H |
probably damaging |
Het |
Dnah10 |
G |
T |
5: 124,839,933 (GRCm39) |
|
probably null |
Het |
Dsc2 |
A |
T |
18: 20,174,876 (GRCm39) |
D466E |
probably damaging |
Het |
Dthd1 |
A |
G |
5: 62,984,411 (GRCm39) |
D372G |
probably damaging |
Het |
Eeig2 |
A |
T |
3: 108,934,571 (GRCm39) |
F23I |
probably benign |
Het |
Eogt |
G |
T |
6: 97,111,265 (GRCm39) |
Q199K |
probably benign |
Het |
Epha6 |
C |
A |
16: 59,486,960 (GRCm39) |
R1029L |
possibly damaging |
Het |
Eppin |
C |
A |
2: 164,431,243 (GRCm39) |
E128* |
probably null |
Het |
Fgf20 |
T |
C |
8: 40,739,652 (GRCm39) |
R33G |
probably benign |
Het |
Fgg |
A |
G |
3: 82,917,397 (GRCm39) |
N142S |
probably damaging |
Het |
Fhip2a |
C |
A |
19: 57,359,619 (GRCm39) |
P53Q |
probably damaging |
Het |
Gba1 |
C |
T |
3: 89,115,951 (GRCm39) |
|
probably null |
Het |
Gli2 |
A |
G |
1: 118,765,241 (GRCm39) |
V970A |
probably damaging |
Het |
Gramd1b |
A |
T |
9: 40,219,289 (GRCm39) |
V508D |
probably damaging |
Het |
Gucy2c |
T |
A |
6: 136,685,319 (GRCm39) |
D898V |
probably damaging |
Het |
Kcnj15 |
T |
C |
16: 95,096,653 (GRCm39) |
Y92H |
probably damaging |
Het |
L3mbtl3 |
A |
T |
10: 26,158,693 (GRCm39) |
S652T |
unknown |
Het |
Ldb2 |
G |
T |
5: 44,633,893 (GRCm39) |
Q326K |
probably benign |
Het |
Lipi |
C |
A |
16: 75,357,689 (GRCm39) |
R292L |
probably benign |
Het |
Lrrc36 |
G |
A |
8: 106,176,246 (GRCm39) |
V207I |
possibly damaging |
Het |
Lyplal1 |
C |
T |
1: 185,820,949 (GRCm39) |
G166D |
probably benign |
Het |
Map1b |
A |
T |
13: 99,566,810 (GRCm39) |
Y1970* |
probably null |
Het |
Map2 |
A |
G |
1: 66,464,628 (GRCm39) |
N287D |
probably damaging |
Het |
Map3k11 |
G |
T |
19: 5,747,499 (GRCm39) |
Q578H |
probably damaging |
Het |
Map3k11 |
A |
T |
19: 5,747,498 (GRCm39) |
Q578L |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,056,351 (GRCm39) |
S1012N |
probably benign |
Het |
Mapk13 |
A |
T |
17: 28,988,426 (GRCm39) |
N15Y |
probably damaging |
Het |
Mapk15 |
G |
A |
15: 75,867,759 (GRCm39) |
A125T |
probably damaging |
Het |
Mrgprb1 |
C |
A |
7: 48,097,456 (GRCm39) |
R152L |
possibly damaging |
Het |
Mtrex |
C |
A |
13: 113,058,273 (GRCm39) |
E53* |
probably null |
Het |
Muc5ac |
T |
G |
7: 141,344,840 (GRCm39) |
Y104D |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,486,440 (GRCm39) |
N566S |
possibly damaging |
Het |
Myo1h |
C |
A |
5: 114,489,737 (GRCm39) |
H647Q |
probably benign |
Het |
Nlgn1 |
T |
C |
3: 25,490,186 (GRCm39) |
T514A |
probably benign |
Het |
Or10al4 |
A |
G |
17: 38,037,587 (GRCm39) |
Y224C |
probably damaging |
Het |
Or12j4 |
A |
T |
7: 140,046,981 (GRCm39) |
Y289F |
probably damaging |
Het |
Or7a42 |
A |
G |
10: 78,791,899 (GRCm39) |
N287D |
probably damaging |
Het |
Or8d4 |
T |
A |
9: 40,039,018 (GRCm39) |
K80* |
probably null |
Het |
Orc2 |
A |
T |
1: 58,539,468 (GRCm39) |
L57* |
probably null |
Het |
Otoa |
G |
A |
7: 120,744,791 (GRCm39) |
V850M |
probably damaging |
Het |
Pcnx3 |
T |
C |
19: 5,717,247 (GRCm39) |
T1579A |
possibly damaging |
Het |
Pde5a |
A |
T |
3: 122,616,742 (GRCm39) |
Y564F |
probably damaging |
Het |
Pdxk |
A |
C |
10: 78,283,753 (GRCm39) |
I147S |
probably damaging |
Het |
Pfdn5 |
A |
G |
15: 102,237,187 (GRCm39) |
D108G |
probably benign |
Het |
Pink1 |
T |
C |
4: 138,044,621 (GRCm39) |
D342G |
probably damaging |
Het |
Prkacb |
A |
T |
3: 146,443,753 (GRCm39) |
V336E |
probably damaging |
Het |
Ptpro |
C |
A |
6: 137,393,834 (GRCm39) |
S13* |
probably null |
Het |
Rfng |
A |
G |
11: 120,673,476 (GRCm39) |
L215P |
probably damaging |
Het |
Rpn2 |
T |
C |
2: 157,144,345 (GRCm39) |
F336L |
possibly damaging |
Het |
Sacs |
A |
G |
14: 61,449,246 (GRCm39) |
|
probably null |
Het |
Sirpb1a |
T |
A |
3: 15,482,097 (GRCm39) |
Y77F |
probably benign |
Het |
Slc30a8 |
A |
G |
15: 52,196,971 (GRCm39) |
D294G |
probably benign |
Het |
Sox13 |
T |
C |
1: 133,316,672 (GRCm39) |
I212V |
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,069,549 (GRCm39) |
I657N |
possibly damaging |
Het |
Srsf6 |
C |
A |
2: 162,775,629 (GRCm39) |
T146K |
probably benign |
Het |
Strn4 |
T |
C |
7: 16,558,088 (GRCm39) |
V162A |
possibly damaging |
Het |
Sulf2 |
T |
C |
2: 165,974,525 (GRCm39) |
D53G |
probably damaging |
Het |
Tbc1d8 |
T |
A |
1: 39,411,789 (GRCm39) |
I1016F |
probably damaging |
Het |
Tfrc |
G |
T |
16: 32,437,475 (GRCm39) |
A278S |
probably damaging |
Het |
Tnrc6a |
T |
G |
7: 122,783,512 (GRCm39) |
|
probably null |
Het |
Vmn1r83 |
T |
C |
7: 12,055,695 (GRCm39) |
I121V |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,858,225 (GRCm39) |
S2200G |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,206,230 (GRCm39) |
D397E |
probably damaging |
Het |
Wipf3 |
T |
C |
6: 54,462,540 (GRCm39) |
L250P |
probably damaging |
Het |
Xirp1 |
A |
G |
9: 119,848,748 (GRCm39) |
F45S |
probably damaging |
Het |
Xpo5 |
A |
G |
17: 46,547,889 (GRCm39) |
T910A |
probably benign |
Het |
Zfp235 |
T |
C |
7: 23,841,101 (GRCm39) |
Y507H |
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 |
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 |
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'- TAGAAGGCTGTTCCTAAATGATCC -3'
(R):5'- TGTGCCTAGGAAACGAGCTG -3'
Sequencing Primer
(F):5'- GGCTGTTCCTAAATGATCCATAACC -3'
(R):5'- GCTGCGTGCAAATCAGTG -3'
|
Posted On |
2015-10-08 |