Incidental Mutation 'R7753:Neo1'
ID |
597372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
045809-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7753 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58863288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 426
(D426E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063656
(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: D426E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: D426E
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 benign
Transcript: ENSMUST00000214547
AA Change: D426E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,074,933 (GRCm39) |
T1377A |
probably damaging |
Het |
AI661453 |
G |
T |
17: 47,778,439 (GRCm39) |
E722* |
probably null |
Het |
Ap2b1 |
A |
T |
11: 83,258,733 (GRCm39) |
K735* |
probably null |
Het |
Aqp4 |
T |
C |
18: 15,533,033 (GRCm39) |
E20G |
probably benign |
Het |
Atp6v1b1 |
G |
T |
6: 83,729,440 (GRCm39) |
V117L |
probably benign |
Het |
C1rb |
A |
G |
6: 124,557,390 (GRCm39) |
N509S |
probably benign |
Het |
Cep44 |
A |
G |
8: 56,985,842 (GRCm39) |
V350A |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,234,680 (GRCm39) |
Q136R |
probably benign |
Het |
Cntrl |
T |
C |
2: 35,001,691 (GRCm39) |
S32P |
probably damaging |
Het |
Cyp2d12 |
A |
T |
15: 82,441,164 (GRCm39) |
E201V |
possibly damaging |
Het |
Cyp4a14 |
G |
T |
4: 115,350,861 (GRCm39) |
Q138K |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,899,007 (GRCm39) |
Y826H |
possibly damaging |
Het |
Dbh |
A |
G |
2: 27,061,448 (GRCm39) |
D294G |
probably benign |
Het |
Ddx10 |
A |
T |
9: 53,136,904 (GRCm39) |
L336Q |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,371,755 (GRCm39) |
T149A |
possibly damaging |
Het |
Epg5 |
A |
G |
18: 77,991,560 (GRCm39) |
T86A |
possibly damaging |
Het |
Fam171a1 |
A |
T |
2: 3,179,354 (GRCm39) |
Q60L |
probably damaging |
Het |
Farsb |
T |
A |
1: 78,456,740 (GRCm39) |
E41D |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,832,217 (GRCm39) |
D1956G |
probably benign |
Het |
Fzd4 |
T |
A |
7: 89,056,992 (GRCm39) |
Y346* |
probably null |
Het |
Fzd7 |
A |
T |
1: 59,522,641 (GRCm39) |
S175C |
probably benign |
Het |
Gdi2 |
A |
G |
13: 3,598,956 (GRCm39) |
T47A |
probably benign |
Het |
Gpr155 |
A |
T |
2: 73,212,550 (GRCm39) |
H24Q |
probably benign |
Het |
Hdac7 |
A |
T |
15: 97,698,642 (GRCm39) |
N638K |
possibly damaging |
Het |
Hdac7 |
G |
T |
15: 97,704,369 (GRCm39) |
N515K |
probably benign |
Het |
Hnrnpul2 |
T |
C |
19: 8,802,336 (GRCm39) |
V401A |
probably damaging |
Het |
Ifi27l2b |
T |
A |
12: 103,417,519 (GRCm39) |
R223* |
probably null |
Het |
Igkv4-91 |
T |
G |
6: 68,745,761 (GRCm39) |
S46R |
probably benign |
Het |
Itk |
T |
A |
11: 46,222,722 (GRCm39) |
L582F |
probably damaging |
Het |
Kcnab2 |
T |
C |
4: 152,481,218 (GRCm39) |
I181V |
probably benign |
Het |
Krtap5-2 |
GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC |
GCCACAGCCTCC |
7: 141,729,136 (GRCm39) |
|
probably benign |
Het |
Lce1m |
C |
A |
3: 92,925,815 (GRCm39) |
G41W |
unknown |
Het |
Mapk10 |
T |
A |
5: 103,186,419 (GRCm39) |
K98* |
probably null |
Het |
Mapk8ip2 |
A |
G |
15: 89,345,856 (GRCm39) |
E812G |
probably damaging |
Het |
Mlh1 |
C |
A |
9: 111,081,931 (GRCm39) |
|
probably null |
Het |
Mroh1 |
A |
G |
15: 76,317,475 (GRCm39) |
D784G |
possibly damaging |
Het |
Nol4 |
T |
A |
18: 23,171,659 (GRCm39) |
M1L |
probably benign |
Het |
Nr1h3 |
A |
G |
2: 91,015,370 (GRCm39) |
F338S |
probably damaging |
Het |
Oasl2 |
A |
G |
5: 115,043,118 (GRCm39) |
K297E |
probably benign |
Het |
Or10ag59 |
A |
G |
2: 87,406,141 (GRCm39) |
T238A |
probably benign |
Het |
Or10z1 |
C |
T |
1: 174,078,236 (GRCm39) |
V86I |
probably benign |
Het |
Or4f14 |
A |
G |
2: 111,742,927 (GRCm39) |
I116T |
probably benign |
Het |
Or56a5 |
T |
C |
7: 104,793,007 (GRCm39) |
I164M |
probably benign |
Het |
Or5m5 |
A |
G |
2: 85,815,060 (GRCm39) |
N292S |
possibly damaging |
Het |
Osbpl9 |
T |
C |
4: 108,990,970 (GRCm39) |
T97A |
possibly damaging |
Het |
P3h2 |
A |
T |
16: 25,789,687 (GRCm39) |
Y527N |
probably damaging |
Het |
Papss2 |
A |
T |
19: 32,597,579 (GRCm39) |
H9L |
probably benign |
Het |
Pcdha4 |
C |
A |
18: 37,086,354 (GRCm39) |
S179Y |
possibly damaging |
Het |
Ppt1 |
A |
T |
4: 122,730,131 (GRCm39) |
D28V |
possibly damaging |
Het |
Prkcz |
T |
A |
4: 155,357,425 (GRCm39) |
Q345L |
possibly damaging |
Het |
Prr14l |
G |
T |
5: 32,984,597 (GRCm39) |
L1633I |
probably damaging |
Het |
Prss51 |
T |
A |
14: 64,333,376 (GRCm39) |
V13D |
possibly damaging |
Het |
Qrich2 |
TTGCAACACACCAGGCTGAACTGGACCTTGCTG |
TTG |
11: 116,347,868 (GRCm39) |
|
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,239,141 (GRCm39) |
I122T |
possibly damaging |
Het |
Spata31e4 |
A |
T |
13: 50,855,817 (GRCm39) |
D485V |
probably damaging |
Het |
Sprr3 |
G |
A |
3: 92,364,415 (GRCm39) |
P143L |
probably benign |
Het |
Sugct |
A |
T |
13: 17,752,104 (GRCm39) |
S181T |
possibly damaging |
Het |
Syne2 |
G |
A |
12: 76,085,697 (GRCm39) |
R141Q |
probably benign |
Het |
Taok1 |
T |
C |
11: 77,428,725 (GRCm39) |
I992V |
probably benign |
Het |
Tbc1d21 |
A |
C |
9: 58,269,306 (GRCm39) |
|
probably null |
Het |
Thada |
T |
C |
17: 84,559,818 (GRCm39) |
D1453G |
probably damaging |
Het |
Thoc5 |
T |
C |
11: 4,852,156 (GRCm39) |
L104S |
probably damaging |
Het |
Tln2 |
T |
G |
9: 67,302,755 (GRCm39) |
Y72S |
probably damaging |
Het |
Tmem98 |
A |
G |
11: 80,705,137 (GRCm39) |
E75G |
probably damaging |
Het |
Tox3 |
A |
G |
8: 90,975,560 (GRCm39) |
L357P |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,197,603 (GRCm39) |
V4492A |
unknown |
Het |
Ulk4 |
A |
G |
9: 121,095,578 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
G |
1: 188,175,603 (GRCm39) |
T1234A |
probably benign |
Het |
Usp53 |
G |
A |
3: 122,742,887 (GRCm39) |
T683I |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,837,442 (GRCm39) |
I2701F |
probably damaging |
Het |
Vmn2r72 |
G |
A |
7: 85,399,834 (GRCm39) |
A405V |
probably damaging |
Het |
Vmn2r96 |
A |
T |
17: 18,806,663 (GRCm39) |
T537S |
possibly damaging |
Het |
Vstm2a |
G |
T |
11: 16,213,040 (GRCm39) |
A142S |
probably damaging |
Het |
Zbtb41 |
A |
G |
1: 139,374,895 (GRCm39) |
D785G |
probably benign |
Het |
Zfp397 |
A |
T |
18: 24,090,129 (GRCm39) |
Q144H |
probably benign |
Het |
Zfp518a |
A |
T |
19: 40,904,249 (GRCm39) |
T1393S |
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 |
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 |
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'- GATTTAGACTGCTGCTCTTTCG -3'
(R):5'- GGGAGTGTTTCTAAAATGCATAATCTC -3'
Sequencing Primer
(F):5'- CGCTTGTAGTTGTGTCACAGGC -3'
(R):5'- CCAATCTGTTGTGATTA -3'
|
Posted On |
2019-11-26 |