Incidental Mutation 'R3552:Neo1'
| ID |
269000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neo1
|
| Ensembl Gene |
ENSMUSG00000032340 |
| Gene Name |
neogenin |
| Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
| MMRRC Submission |
040669-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
58874687-59036441 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58893878 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 1140
(K1140M)
|
| 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: K1167M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: K1167M
| 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: K1140M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215165
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009O20Rik |
A |
G |
18: 38,258,365 (GRCm38) |
|
probably benign |
Het |
| Acaca |
T |
A |
11: 84,261,624 (GRCm38) |
Y866N |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,394,681 (GRCm38) |
T371A |
probably benign |
Het |
| Akna |
T |
C |
4: 63,398,124 (GRCm38) |
M1V |
probably null |
Het |
| Aldh7a1 |
T |
C |
18: 56,550,292 (GRCm38) |
|
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,507,776 (GRCm38) |
L1500H |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,310,766 (GRCm38) |
D452V |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,276,772 (GRCm38) |
T1333M |
possibly damaging |
Het |
| Carmil3 |
G |
T |
14: 55,507,402 (GRCm38) |
R1276L |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,187,761 (GRCm38) |
S173G |
probably benign |
Het |
| Chrm2 |
A |
T |
6: 36,523,810 (GRCm38) |
I201F |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 130,077,041 (GRCm38) |
T618A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,720,960 (GRCm38) |
Y192C |
probably benign |
Het |
| Ep400 |
T |
A |
5: 110,729,287 (GRCm38) |
E821V |
unknown |
Het |
| Esrrg |
G |
A |
1: 188,150,190 (GRCm38) |
V215I |
probably benign |
Het |
| Evx1 |
A |
T |
6: 52,316,923 (GRCm38) |
S359C |
probably damaging |
Het |
| Fcrls |
A |
G |
3: 87,259,410 (GRCm38) |
I92T |
possibly damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,998,110 (GRCm38) |
F106I |
possibly damaging |
Het |
| Gm9944 |
T |
C |
4: 144,453,043 (GRCm38) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Hrc |
G |
C |
7: 45,336,333 (GRCm38) |
E303Q |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,238,766 (GRCm38) |
N118D |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,720,791 (GRCm38) |
I323T |
possibly damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,387,521 (GRCm38) |
Y869H |
probably benign |
Het |
| Lrrc4c |
T |
A |
2: 97,629,961 (GRCm38) |
W311R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,695,463 (GRCm38) |
D862G |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,861,335 (GRCm38) |
T2673A |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,867,705 (GRCm38) |
S4311G |
probably benign |
Het |
| Myo15 |
C |
T |
11: 60,509,663 (GRCm38) |
A1767V |
possibly damaging |
Het |
| Oc90 |
T |
C |
15: 65,878,801 (GRCm38) |
Q365R |
possibly damaging |
Het |
| Olfr1012 |
T |
C |
2: 85,759,893 (GRCm38) |
N161S |
possibly damaging |
Het |
| Olfr378 |
T |
C |
11: 73,425,852 (GRCm38) |
I44V |
probably benign |
Het |
| Olfr48 |
A |
C |
2: 89,844,343 (GRCm38) |
M210R |
possibly damaging |
Het |
| Oplah |
C |
T |
15: 76,302,094 (GRCm38) |
D734N |
possibly damaging |
Het |
| Pbx1 |
G |
A |
1: 168,158,793 (GRCm38) |
P411L |
possibly damaging |
Het |
| Pcdhga6 |
G |
T |
18: 37,708,217 (GRCm38) |
R330L |
probably benign |
Het |
| Phox2b |
C |
A |
5: 67,097,656 (GRCm38) |
R150L |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,290,795 (GRCm38) |
E169G |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 116,888,877 (GRCm38) |
Q518L |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,195,585 (GRCm38) |
I214K |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 29,056,997 (GRCm38) |
Q3464L |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,751,787 (GRCm38) |
I2854F |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,975,038 (GRCm38) |
Y615C |
probably benign |
Het |
| Sirt5 |
A |
T |
13: 43,383,167 (GRCm38) |
N226Y |
probably damaging |
Het |
| Slc30a3 |
G |
A |
5: 31,095,078 (GRCm38) |
|
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 76,081,524 (GRCm38) |
V226A |
probably damaging |
Het |
| Slf2 |
C |
A |
19: 44,934,951 (GRCm38) |
S68* |
probably null |
Het |
| Smyd5 |
G |
A |
6: 85,442,211 (GRCm38) |
E292K |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 126,370,371 (GRCm38) |
V512A |
possibly damaging |
Het |
| Sry |
T |
A |
Y: 2,663,141 (GRCm38) |
Q173L |
unknown |
Het |
| Ssrp1 |
C |
A |
2: 85,044,392 (GRCm38) |
Q519K |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,139,839 (GRCm38) |
E498G |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,880,247 (GRCm38) |
L650W |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,718,721 (GRCm38) |
E3861D |
probably damaging |
Het |
| Trbc1 |
G |
T |
6: 41,539,645 (GRCm38) |
|
probably benign |
Het |
| Trpm7 |
T |
A |
2: 126,826,710 (GRCm38) |
|
probably benign |
Het |
| Usp39 |
G |
A |
6: 72,337,832 (GRCm38) |
T197I |
possibly damaging |
Het |
| Vmn1r38 |
T |
C |
6: 66,776,493 (GRCm38) |
H213R |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,220,568 (GRCm38) |
D168G |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,546,856 (GRCm38) |
I45V |
probably benign |
Het |
| Zfp352 |
A |
G |
4: 90,225,102 (GRCm38) |
E493G |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,309,428 (GRCm38) |
T170I |
possibly damaging |
Het |
| Zfp735 |
C |
A |
11: 73,711,241 (GRCm38) |
S337* |
probably null |
Het |
|
| Other mutations in Neo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Neo1
|
APN |
9 |
58,921,919 (GRCm38) |
splice site |
probably benign |
|
|
IGL00885:Neo1
|
APN |
9 |
58,888,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01103:Neo1
|
APN |
9 |
58,880,799 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
IGL01322:Neo1
|
APN |
9 |
58,907,085 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02216:Neo1
|
APN |
9 |
58,917,053 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02327:Neo1
|
APN |
9 |
58,903,088 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02392:Neo1
|
APN |
9 |
58,925,811 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL02458:Neo1
|
APN |
9 |
58,893,867 (GRCm38) |
splice site |
probably benign |
|
|
IGL03057:Neo1
|
APN |
9 |
58,878,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03091:Neo1
|
APN |
9 |
58,978,668 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03193:Neo1
|
APN |
9 |
58,908,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0097:Neo1
|
UTSW |
9 |
58,882,021 (GRCm38) |
intron |
probably benign |
|
|
R0419:Neo1
|
UTSW |
9 |
58,990,180 (GRCm38) |
splice site |
probably benign |
|
|
R0571:Neo1
|
UTSW |
9 |
58,985,786 (GRCm38) |
missense |
probably benign |
|
|
R0646:Neo1
|
UTSW |
9 |
58,931,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0736:Neo1
|
UTSW |
9 |
58,917,081 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0739:Neo1
|
UTSW |
9 |
58,921,877 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1636:Neo1
|
UTSW |
9 |
58,913,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1694:Neo1
|
UTSW |
9 |
58,880,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1827:Neo1
|
UTSW |
9 |
58,917,031 (GRCm38) |
nonsense |
probably null |
|
|
R1927:Neo1
|
UTSW |
9 |
58,990,385 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2354:Neo1
|
UTSW |
9 |
58,985,634 (GRCm38) |
missense |
probably benign |
|
|
R2365:Neo1
|
UTSW |
9 |
58,956,003 (GRCm38) |
missense |
probably benign |
|
|
R3156:Neo1
|
UTSW |
9 |
58,888,979 (GRCm38) |
splice site |
probably null |
|
|
R3829:Neo1
|
UTSW |
9 |
58,913,169 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4477:Neo1
|
UTSW |
9 |
58,877,299 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4613:Neo1
|
UTSW |
9 |
58,889,041 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5023:Neo1
|
UTSW |
9 |
58,990,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5046:Neo1
|
UTSW |
9 |
58,893,911 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5057:Neo1
|
UTSW |
9 |
58,990,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5323:Neo1
|
UTSW |
9 |
58,906,648 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5394:Neo1
|
UTSW |
9 |
58,990,234 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5470:Neo1
|
UTSW |
9 |
58,931,067 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5473:Neo1
|
UTSW |
9 |
58,880,843 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5500:Neo1
|
UTSW |
9 |
58,917,054 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5503:Neo1
|
UTSW |
9 |
58,985,650 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6122:Neo1
|
UTSW |
9 |
58,917,008 (GRCm38) |
missense |
probably benign |
|
|
R6191:Neo1
|
UTSW |
9 |
58,889,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6431:Neo1
|
UTSW |
9 |
58,907,071 (GRCm38) |
missense |
probably benign |
0.27 |
|
R6560:Neo1
|
UTSW |
9 |
58,880,601 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6658:Neo1
|
UTSW |
9 |
58,921,849 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6772:Neo1
|
UTSW |
9 |
58,902,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6912:Neo1
|
UTSW |
9 |
58,917,052 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7061:Neo1
|
UTSW |
9 |
58,990,441 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7145:Neo1
|
UTSW |
9 |
58,889,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7156:Neo1
|
UTSW |
9 |
58,902,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7485:Neo1
|
UTSW |
9 |
58,884,543 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7519:Neo1
|
UTSW |
9 |
58,878,065 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7615:Neo1
|
UTSW |
9 |
58,884,503 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7665:Neo1
|
UTSW |
9 |
58,925,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7695:Neo1
|
UTSW |
9 |
58,902,929 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7753:Neo1
|
UTSW |
9 |
58,956,005 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7807:Neo1
|
UTSW |
9 |
58,990,494 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7915:Neo1
|
UTSW |
9 |
58,930,981 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7973:Neo1
|
UTSW |
9 |
58,990,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8356:Neo1
|
UTSW |
9 |
58,878,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8505:Neo1
|
UTSW |
9 |
58,913,283 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8700:Neo1
|
UTSW |
9 |
58,918,630 (GRCm38) |
missense |
probably benign |
0.28 |
|
R8798:Neo1
|
UTSW |
9 |
58,913,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8952:Neo1
|
UTSW |
9 |
58,990,262 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9779:Neo1
|
UTSW |
9 |
58,978,726 (GRCm38) |
nonsense |
probably null |
|
|
R9784:Neo1
|
UTSW |
9 |
58,982,220 (GRCm38) |
missense |
probably benign |
|
|
R9789:Neo1
|
UTSW |
9 |
58,894,024 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
X0063:Neo1
|
UTSW |
9 |
58,990,298 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTCCATTAGAATCTTATGGG -3'
(R):5'- CCTTGAAAAGGTTTGATGGAGC -3'
Sequencing Primer
(F):5'- GCTCCATTAGAATCTTATGGGACTTG -3'
(R):5'- CTGCTGGTCATCATTGTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation