Incidental Mutation 'R8798:Neo1'
ID |
671386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
068724-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8798 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58820449 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 825
(Y825H)
|
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: Y825H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: Y825H
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: Y825H
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (74/74) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
G |
A |
8: 79,937,380 (GRCm39) |
R176* |
probably null |
Het |
4921539E11Rik |
A |
C |
4: 103,123,574 (GRCm39) |
|
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,797,105 (GRCm39) |
N492S |
probably benign |
Het |
Acox1 |
T |
C |
11: 116,065,183 (GRCm39) |
Y624C |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,291,335 (GRCm39) |
|
probably benign |
Het |
Ak9 |
T |
A |
10: 41,258,847 (GRCm39) |
D781E |
|
Het |
Arfgef3 |
T |
C |
10: 18,522,799 (GRCm39) |
D409G |
probably damaging |
Het |
Arhgef18 |
T |
A |
8: 3,414,645 (GRCm39) |
Y8N |
probably benign |
Het |
Blnk |
A |
G |
19: 40,950,795 (GRCm39) |
Y119H |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,541,601 (GRCm39) |
L310P |
probably damaging |
Het |
Cgas |
G |
A |
9: 78,350,348 (GRCm39) |
R5C |
probably benign |
Het |
Cit |
T |
A |
5: 116,107,102 (GRCm39) |
L1078Q |
probably damaging |
Het |
Cpn1 |
A |
T |
19: 43,974,675 (GRCm39) |
V18D |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,595,382 (GRCm39) |
Y1115N |
|
Het |
Dnah9 |
A |
C |
11: 65,796,057 (GRCm39) |
V3589G |
probably damaging |
Het |
Dpp9 |
T |
C |
17: 56,506,037 (GRCm39) |
Y454C |
probably damaging |
Het |
Eif3i |
A |
G |
4: 129,490,717 (GRCm39) |
V67A |
probably benign |
Het |
Eif6 |
T |
C |
2: 155,664,886 (GRCm39) |
N200S |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,051,605 (GRCm39) |
H502R |
possibly damaging |
Het |
Fcer1a |
A |
G |
1: 173,053,047 (GRCm39) |
Y50H |
probably benign |
Het |
Filip1 |
G |
A |
9: 79,727,372 (GRCm39) |
H416Y |
possibly damaging |
Het |
Frmpd1 |
A |
T |
4: 45,285,424 (GRCm39) |
N1415I |
possibly damaging |
Het |
Gdpgp1 |
C |
T |
7: 79,888,725 (GRCm39) |
P252L |
probably damaging |
Het |
Gsap |
T |
C |
5: 21,476,248 (GRCm39) |
|
probably null |
Het |
Hgs |
T |
C |
11: 120,370,938 (GRCm39) |
V598A |
probably benign |
Het |
Irf2 |
G |
T |
8: 47,260,349 (GRCm39) |
V94L |
probably benign |
Het |
Kalrn |
G |
T |
16: 33,803,225 (GRCm39) |
H2675Q |
possibly damaging |
Het |
Klhl33 |
C |
A |
14: 51,130,565 (GRCm39) |
A50S |
possibly damaging |
Het |
Klk1b11 |
T |
C |
7: 43,645,372 (GRCm39) |
I15T |
probably benign |
Het |
Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
Lrrn3 |
A |
G |
12: 41,503,174 (GRCm39) |
M381T |
possibly damaging |
Het |
Ltbr |
A |
G |
6: 125,284,258 (GRCm39) |
Y395H |
probably benign |
Het |
Ltf |
A |
G |
9: 110,852,828 (GRCm39) |
|
probably benign |
Het |
Ly75 |
A |
G |
2: 60,154,270 (GRCm39) |
F1059S |
probably benign |
Het |
Lypd6 |
T |
A |
2: 50,078,774 (GRCm39) |
I90N |
possibly damaging |
Het |
Map1a |
G |
A |
2: 121,132,768 (GRCm39) |
V1195M |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,978,191 (GRCm39) |
I1320F |
probably damaging |
Het |
Mug2 |
A |
G |
6: 122,058,569 (GRCm39) |
T1324A |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,719,772 (GRCm39) |
V562M |
possibly damaging |
Het |
Myo15b |
G |
A |
11: 115,754,232 (GRCm39) |
G911R |
|
Het |
Nfat5 |
T |
G |
8: 108,074,321 (GRCm39) |
V343G |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,330,887 (GRCm39) |
I503K |
possibly damaging |
Het |
Or10d5 |
G |
A |
9: 39,862,013 (GRCm39) |
T18I |
probably benign |
Het |
Or13d1 |
C |
A |
4: 52,970,790 (GRCm39) |
H56Q |
possibly damaging |
Het |
Or5k16 |
A |
T |
16: 58,736,307 (GRCm39) |
D232E |
probably benign |
Het |
Or8d2 |
G |
A |
9: 38,760,213 (GRCm39) |
E268K |
probably benign |
Het |
Pdcl2 |
T |
C |
5: 76,472,947 (GRCm39) |
D7G |
probably damaging |
Het |
Phyh |
C |
T |
2: 4,923,893 (GRCm39) |
R5C |
probably damaging |
Het |
Prr11 |
A |
C |
11: 86,996,881 (GRCm39) |
S28A |
unknown |
Het |
Psmd13 |
T |
A |
7: 140,477,663 (GRCm39) |
L190* |
probably null |
Het |
Ptx4 |
A |
G |
17: 25,343,716 (GRCm39) |
D322G |
probably damaging |
Het |
Rnf40 |
T |
C |
7: 127,188,954 (GRCm39) |
L109P |
probably damaging |
Het |
Rrp1 |
T |
C |
10: 78,245,024 (GRCm39) |
T102A |
probably damaging |
Het |
Sema4a |
T |
G |
3: 88,344,004 (GRCm39) |
D749A |
possibly damaging |
Het |
Serpina3f |
A |
T |
12: 104,183,702 (GRCm39) |
D188V |
probably benign |
Het |
Smarca5 |
C |
A |
8: 81,443,137 (GRCm39) |
A570S |
probably damaging |
Het |
Spocd1 |
G |
C |
4: 129,823,997 (GRCm39) |
|
probably null |
Het |
Stard9 |
G |
A |
2: 120,535,212 (GRCm39) |
G3823D |
probably benign |
Het |
Suco |
A |
G |
1: 161,648,004 (GRCm39) |
L1094S |
probably damaging |
Het |
Tcf7 |
T |
C |
11: 52,151,421 (GRCm39) |
D79G |
probably damaging |
Het |
Tdrd12 |
A |
G |
7: 35,228,605 (GRCm39) |
M39T |
probably damaging |
Het |
Thnsl1 |
A |
G |
2: 21,217,209 (GRCm39) |
N321S |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,437,217 (GRCm39) |
Y235* |
probably null |
Het |
Tnfaip6 |
T |
C |
2: 51,933,824 (GRCm39) |
F60L |
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,572,620 (GRCm39) |
I411V |
probably benign |
Het |
Trio |
A |
C |
15: 27,851,923 (GRCm39) |
V856G |
possibly damaging |
Het |
Trpc2 |
C |
G |
7: 101,733,767 (GRCm39) |
R239G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,656,476 (GRCm39) |
V12502I |
unknown |
Het |
Usf3 |
A |
G |
16: 44,040,536 (GRCm39) |
D1672G |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,236,436 (GRCm39) |
N1011S |
probably benign |
Het |
Vac14 |
A |
G |
8: 111,446,519 (GRCm39) |
E756G |
probably benign |
Het |
Vmn2r41 |
A |
G |
7: 8,164,522 (GRCm39) |
L10P |
probably damaging |
Het |
Xrcc5 |
T |
C |
1: 72,353,337 (GRCm39) |
M115T |
probably damaging |
Het |
Zfp1006 |
G |
A |
8: 129,945,779 (GRCm39) |
H349Y |
probably damaging |
Het |
Zfp827 |
G |
A |
8: 79,916,463 (GRCm39) |
|
probably benign |
Het |
Zmym1 |
A |
T |
4: 126,943,664 (GRCm39) |
N241K |
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 |
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 |
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'- GCACTGGATATCGTTCTGTGTG -3'
(R):5'- TTCCTGAAGTGCCCAGCT -3'
Sequencing Primer
(F):5'- GAGAGTTACCATGTCTGCAACTGAC -3'
(R):5'- GAAGTGCCCAGCTCTCTTCATG -3'
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Posted On |
2021-04-30 |