Incidental Mutation 'R7973:Neo1'
ID |
650720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
046016-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7973 (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 T
at 58897476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 160
(A160E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063656
(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: A160E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: A160E
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: A160E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (53/54) |
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 |
2210016L21Rik |
A |
G |
5: 115,084,112 (GRCm39) |
D76G |
probably benign |
Het |
Abcg1 |
T |
C |
17: 31,323,132 (GRCm39) |
V237A |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Akap11 |
A |
T |
14: 78,752,506 (GRCm39) |
H122Q |
|
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Arhgef4 |
C |
T |
1: 34,763,518 (GRCm39) |
R925W |
possibly damaging |
Het |
Arid1a |
C |
T |
4: 133,480,381 (GRCm39) |
G181D |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,960,164 (GRCm39) |
S2299T |
probably benign |
Het |
Atf7ip |
C |
T |
6: 136,538,062 (GRCm39) |
Q432* |
probably null |
Het |
B430306N03Rik |
T |
A |
17: 48,623,483 (GRCm39) |
S10T |
probably benign |
Het |
Bckdk |
A |
G |
7: 127,505,539 (GRCm39) |
I221V |
probably benign |
Het |
Brinp2 |
T |
C |
1: 158,074,057 (GRCm39) |
Y688C |
probably damaging |
Het |
Caml |
C |
T |
13: 55,779,784 (GRCm39) |
L286F |
probably benign |
Het |
Ccdc125 |
C |
T |
13: 100,806,331 (GRCm39) |
|
probably benign |
Het |
Cdh24 |
A |
T |
14: 54,876,477 (GRCm39) |
V116E |
possibly damaging |
Het |
Cenpe |
T |
A |
3: 134,929,011 (GRCm39) |
I305N |
probably damaging |
Het |
Cep41 |
C |
T |
6: 30,680,130 (GRCm39) |
G33S |
probably damaging |
Het |
Clec4b2 |
A |
T |
6: 123,181,148 (GRCm39) |
I178L |
probably benign |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dapk1 |
T |
A |
13: 60,909,377 (GRCm39) |
L1330Q |
probably damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Fmnl1 |
G |
T |
11: 103,061,984 (GRCm39) |
|
probably benign |
Het |
Galk1 |
A |
G |
11: 115,903,435 (GRCm39) |
F24L |
possibly damaging |
Het |
Hyal4 |
T |
A |
6: 24,755,785 (GRCm39) |
M1K |
probably null |
Het |
Ighe |
T |
C |
12: 113,236,677 (GRCm39) |
T64A |
|
Het |
Iqch |
A |
G |
9: 63,432,228 (GRCm39) |
I389T |
possibly damaging |
Het |
Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Kdm1b |
T |
C |
13: 47,230,922 (GRCm39) |
S650P |
probably benign |
Het |
Mapkapk5 |
T |
G |
5: 121,663,776 (GRCm39) |
N426T |
possibly damaging |
Het |
Mroh5 |
G |
T |
15: 73,664,614 (GRCm39) |
Y90* |
probably null |
Het |
Ncan |
T |
G |
8: 70,550,225 (GRCm39) |
I1184L |
probably benign |
Het |
Nectin3 |
T |
C |
16: 46,216,484 (GRCm39) |
T439A |
probably benign |
Het |
Nosip |
T |
C |
7: 44,726,784 (GRCm39) |
S295P |
possibly damaging |
Het |
Nup205 |
T |
A |
6: 35,222,274 (GRCm39) |
F1979L |
probably benign |
Het |
Nxpe2 |
A |
T |
9: 48,231,168 (GRCm39) |
D400E |
probably damaging |
Het |
Or4a73 |
T |
A |
2: 89,421,331 (GRCm39) |
I43F |
probably damaging |
Het |
Pfkfb4 |
G |
A |
9: 108,854,179 (GRCm39) |
R351Q |
probably damaging |
Het |
Psg29 |
T |
C |
7: 16,944,462 (GRCm39) |
I324T |
probably benign |
Het |
Ptprh |
G |
T |
7: 4,583,887 (GRCm39) |
T235N |
possibly damaging |
Het |
Ralgapa2 |
T |
A |
2: 146,230,481 (GRCm39) |
N981I |
possibly damaging |
Het |
Ralgps1 |
T |
C |
2: 33,036,651 (GRCm39) |
Y421C |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
Sgk1 |
G |
T |
10: 21,870,054 (GRCm39) |
S31I |
probably benign |
Het |
Sim1 |
T |
G |
10: 50,857,419 (GRCm39) |
Y390D |
probably damaging |
Het |
Slain2 |
T |
A |
5: 73,112,779 (GRCm39) |
Y271* |
probably null |
Het |
Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,881,590 (GRCm39) |
|
probably null |
Het |
Supv3l1 |
A |
T |
10: 62,285,202 (GRCm39) |
L88Q |
probably damaging |
Het |
Syt2 |
C |
A |
1: 134,668,570 (GRCm39) |
|
probably null |
Het |
Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
Usp32 |
A |
G |
11: 84,913,634 (GRCm39) |
I899T |
probably damaging |
Het |
Usp6nl |
G |
T |
2: 6,413,762 (GRCm39) |
R96M |
probably damaging |
Het |
Vmn1r75 |
A |
G |
7: 11,614,961 (GRCm39) |
D231G |
probably benign |
Het |
Vmn2r42 |
T |
C |
7: 8,197,872 (GRCm39) |
E249G |
probably benign |
Het |
Zbtb34 |
C |
T |
2: 33,301,531 (GRCm39) |
G337R |
probably benign |
Het |
Zfp457 |
T |
A |
13: 67,441,882 (GRCm39) |
H231L |
probably benign |
Het |
Zfp715 |
C |
T |
7: 42,949,321 (GRCm39) |
G213D |
possibly damaging |
Het |
Zfp760 |
T |
G |
17: 21,941,084 (GRCm39) |
H86Q |
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 |
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'- CACCAGTTTCTTCAGCATAACCCTAAG -3'
(R):5'- TCGGCATATTCTGAGCCCTC -3'
Sequencing Primer
(F):5'- CCCTAAGCAAATGAGTGTAGTCTC -3'
(R):5'- TGAGCCCTCTCCAAACATTGAATG -3'
|
Posted On |
2020-09-15 |