Incidental Mutation 'R1927:Neo1'
ID |
214956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
039945-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58897668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 96
(E96G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150600
(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: E96G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: E96G
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: E96G
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217545
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,613,338 (GRCm39) |
S31P |
probably damaging |
Het |
Abca12 |
G |
T |
1: 71,283,999 (GRCm39) |
H2524Q |
probably damaging |
Het |
Acsl5 |
T |
C |
19: 55,266,586 (GRCm39) |
V135A |
probably benign |
Het |
Actl11 |
T |
G |
9: 107,806,736 (GRCm39) |
L353R |
possibly damaging |
Het |
Adcy6 |
G |
T |
15: 98,496,379 (GRCm39) |
|
probably null |
Het |
B230104I21Rik |
A |
G |
4: 154,425,694 (GRCm39) |
I697T |
probably damaging |
Het |
BC061237 |
G |
A |
14: 44,738,700 (GRCm39) |
R33K |
possibly damaging |
Het |
Brf1 |
C |
A |
12: 112,963,964 (GRCm39) |
V5F |
possibly damaging |
Het |
Chmp2a |
C |
T |
7: 12,767,863 (GRCm39) |
A21T |
possibly damaging |
Het |
Cwh43 |
A |
G |
5: 73,610,417 (GRCm39) |
N607S |
probably benign |
Het |
Ddhd2 |
G |
A |
8: 26,231,688 (GRCm39) |
L445F |
possibly damaging |
Het |
Dicer1 |
C |
A |
12: 104,669,143 (GRCm39) |
D1180Y |
possibly damaging |
Het |
Dnaaf4 |
A |
T |
9: 72,867,909 (GRCm39) |
I57L |
probably damaging |
Het |
Dock5 |
A |
T |
14: 68,083,511 (GRCm39) |
S133T |
possibly damaging |
Het |
Efs |
A |
T |
14: 55,154,620 (GRCm39) |
C540S |
possibly damaging |
Het |
Ehd4 |
C |
T |
2: 119,921,973 (GRCm39) |
G428S |
probably benign |
Het |
Eml1 |
C |
T |
12: 108,504,476 (GRCm39) |
R812* |
probably null |
Het |
Enpp1 |
C |
T |
10: 24,530,786 (GRCm39) |
D557N |
possibly damaging |
Het |
Fn3krp |
A |
G |
11: 121,315,803 (GRCm39) |
T65A |
probably damaging |
Het |
Galnt5 |
A |
G |
2: 57,888,615 (GRCm39) |
R72G |
probably benign |
Het |
Gfod1 |
C |
T |
13: 43,354,336 (GRCm39) |
R213H |
possibly damaging |
Het |
Gm10518 |
A |
G |
1: 179,631,210 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
A |
G |
11: 48,780,082 (GRCm39) |
F558S |
probably damaging |
Het |
Got1 |
C |
T |
19: 43,504,119 (GRCm39) |
|
probably null |
Het |
Gucy2g |
C |
T |
19: 55,226,191 (GRCm39) |
V242I |
probably benign |
Het |
Hdgfl2 |
T |
A |
17: 56,406,874 (GRCm39) |
V606E |
possibly damaging |
Het |
Hoxa3 |
T |
C |
6: 52,146,979 (GRCm39) |
|
probably benign |
Het |
Iqub |
T |
A |
6: 24,491,670 (GRCm39) |
I339L |
probably benign |
Het |
Kdm4c |
C |
T |
4: 74,263,720 (GRCm39) |
T668I |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,617,474 (GRCm39) |
I592V |
probably benign |
Het |
Mfsd12 |
G |
T |
10: 81,197,921 (GRCm39) |
M296I |
probably benign |
Het |
Mfsd4b4 |
C |
T |
10: 39,768,437 (GRCm39) |
A219T |
probably damaging |
Het |
Mrpl52 |
T |
C |
14: 54,664,414 (GRCm39) |
S9P |
possibly damaging |
Het |
Nbr1 |
A |
G |
11: 101,458,040 (GRCm39) |
Y273C |
possibly damaging |
Het |
Ncf4 |
G |
T |
15: 78,144,846 (GRCm39) |
G217V |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,818,344 (GRCm39) |
N279K |
probably damaging |
Het |
Nr5a2 |
A |
G |
1: 136,872,732 (GRCm39) |
Y56H |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Nynrin |
A |
G |
14: 56,101,049 (GRCm39) |
T280A |
probably benign |
Het |
Or1o2 |
A |
G |
17: 37,542,434 (GRCm39) |
Y276H |
probably damaging |
Het |
Or2b28 |
T |
A |
13: 21,531,116 (GRCm39) |
I6N |
probably benign |
Het |
Or2w2 |
A |
G |
13: 21,758,426 (GRCm39) |
F67L |
probably benign |
Het |
Or55b10 |
A |
G |
7: 102,143,266 (GRCm39) |
S239P |
possibly damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,393 (GRCm39) |
Y260H |
probably damaging |
Het |
Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
Ptprn |
A |
G |
1: 75,230,766 (GRCm39) |
V565A |
probably benign |
Het |
Rbm6 |
T |
G |
9: 107,730,102 (GRCm39) |
D182A |
probably damaging |
Het |
Rhbg |
A |
G |
3: 88,151,859 (GRCm39) |
F400L |
probably benign |
Het |
Rpl22l1 |
T |
A |
3: 28,860,738 (GRCm39) |
N33K |
possibly damaging |
Het |
Rtp1 |
T |
A |
16: 23,249,959 (GRCm39) |
I108N |
probably damaging |
Het |
Sema6b |
A |
T |
17: 56,439,797 (GRCm39) |
F15I |
probably benign |
Het |
Sirpa |
C |
T |
2: 129,458,296 (GRCm39) |
T304I |
possibly damaging |
Het |
Slc22a29 |
A |
G |
19: 8,184,430 (GRCm39) |
I257T |
probably benign |
Het |
Slc41a1 |
T |
C |
1: 131,768,938 (GRCm39) |
I256T |
probably damaging |
Het |
Smg6 |
A |
G |
11: 75,033,674 (GRCm39) |
K1208R |
probably damaging |
Het |
Sorcs1 |
G |
T |
19: 50,210,633 (GRCm39) |
P744Q |
probably damaging |
Het |
Sptbn5 |
T |
C |
2: 119,900,943 (GRCm39) |
T213A |
probably benign |
Het |
St18 |
A |
G |
1: 6,872,936 (GRCm39) |
T224A |
probably benign |
Het |
Stat3 |
T |
C |
11: 100,785,655 (GRCm39) |
N465S |
probably damaging |
Het |
Stmn2 |
T |
A |
3: 8,610,636 (GRCm39) |
M40K |
probably benign |
Het |
Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
Thrb |
T |
A |
14: 18,008,674 (GRCm38) |
C133S |
probably damaging |
Het |
Tmem25 |
C |
T |
9: 44,707,780 (GRCm39) |
V172M |
possibly damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trhde |
T |
A |
10: 114,636,754 (GRCm39) |
Y151F |
probably damaging |
Het |
Trp53bp2 |
A |
G |
1: 182,280,229 (GRCm39) |
T912A |
probably damaging |
Het |
Unc79 |
C |
A |
12: 103,135,951 (GRCm39) |
A2269E |
probably damaging |
Het |
Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
Zfp758 |
T |
G |
17: 22,594,823 (GRCm39) |
S436R |
probably damaging |
Het |
Zfp791 |
G |
T |
8: 85,837,312 (GRCm39) |
T184K |
probably benign |
Het |
Znrf3 |
A |
G |
11: 5,231,062 (GRCm39) |
V817A |
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 |
|
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 |
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'- TGTTCTGCTGACAATGGTTCC -3'
(R):5'- AGACATCAATGGCATATCATTCAGC -3'
Sequencing Primer
(F):5'- GGTTCCAAGATTATCCACAGTGGC -3'
(R):5'- TGGCATATCATTCAGCAATAATCTG -3'
|
Posted On |
2014-07-14 |