Incidental Mutation 'R0419:Neo1'
ID |
36929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
038621-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0419 (G1)
|
Quality Score |
157 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 58897463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217545
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
Validation Efficiency |
98% (54/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
C |
8: 13,601,842 (GRCm39) |
|
probably benign |
Het |
5730507C01Rik |
A |
T |
12: 18,583,424 (GRCm39) |
R161S |
possibly damaging |
Het |
Adamts5 |
T |
C |
16: 85,663,530 (GRCm39) |
I735V |
probably benign |
Het |
Arid1a |
G |
T |
4: 133,408,435 (GRCm39) |
P2024Q |
unknown |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
B3galt4 |
T |
C |
17: 34,169,764 (GRCm39) |
Y158C |
probably damaging |
Het |
BC049715 |
A |
G |
6: 136,817,143 (GRCm39) |
T128A |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,922,629 (GRCm39) |
I11N |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,077,485 (GRCm39) |
I496V |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,441,517 (GRCm39) |
H858Q |
probably benign |
Het |
Chrne |
T |
C |
11: 70,506,549 (GRCm39) |
I324V |
probably benign |
Het |
Clec14a |
T |
C |
12: 58,314,451 (GRCm39) |
I390M |
probably damaging |
Het |
Cpsf3 |
A |
G |
12: 21,347,800 (GRCm39) |
Y207C |
probably damaging |
Het |
Cubn |
A |
C |
2: 13,474,574 (GRCm39) |
I410S |
possibly damaging |
Het |
Cubn |
T |
A |
2: 13,474,575 (GRCm39) |
I410F |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,050,740 (GRCm39) |
E997G |
possibly damaging |
Het |
Emilin1 |
G |
T |
5: 31,072,366 (GRCm39) |
V71F |
probably damaging |
Het |
Esrp2 |
T |
C |
8: 106,861,307 (GRCm39) |
E164G |
probably damaging |
Het |
Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,903,552 (GRCm39) |
V2981A |
probably damaging |
Het |
Fkbp15 |
G |
A |
4: 62,244,373 (GRCm39) |
T472I |
probably benign |
Het |
Gm6871 |
A |
G |
7: 41,222,869 (GRCm39) |
V73A |
probably benign |
Het |
Gnl2 |
T |
G |
4: 124,947,320 (GRCm39) |
S647R |
probably benign |
Het |
Grb10 |
T |
C |
11: 11,884,207 (GRCm39) |
I500V |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,353,356 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
C |
13: 95,826,207 (GRCm39) |
|
probably null |
Het |
Kcnu1 |
A |
T |
8: 26,427,646 (GRCm39) |
N321I |
probably benign |
Het |
Kif23 |
G |
A |
9: 61,833,687 (GRCm39) |
R519* |
probably null |
Het |
Klhl1 |
C |
T |
14: 96,619,225 (GRCm39) |
R224Q |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,098,605 (GRCm39) |
|
probably null |
Het |
Lamp3 |
T |
C |
16: 19,492,302 (GRCm39) |
Y314C |
probably damaging |
Het |
Lamtor5 |
C |
A |
3: 107,189,227 (GRCm39) |
R88S |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,726,715 (GRCm39) |
A2088E |
probably benign |
Het |
Ntn4 |
A |
T |
10: 93,518,291 (GRCm39) |
R199S |
probably benign |
Het |
Or5ap2 |
A |
T |
2: 85,680,311 (GRCm39) |
R172* |
probably null |
Het |
Plekho2 |
A |
G |
9: 65,464,334 (GRCm39) |
S172P |
possibly damaging |
Het |
Pmp2 |
T |
C |
3: 10,245,823 (GRCm39) |
Y129C |
probably damaging |
Het |
Prss3b |
T |
C |
6: 41,011,281 (GRCm39) |
N34D |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,270,592 (GRCm39) |
M578K |
possibly damaging |
Het |
Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
Serpinb11 |
G |
A |
1: 107,304,590 (GRCm39) |
W185* |
probably null |
Het |
Setdb2 |
A |
T |
14: 59,644,193 (GRCm39) |
|
probably null |
Het |
Sirpb1b |
A |
T |
3: 15,613,656 (GRCm39) |
V75E |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,100,292 (GRCm39) |
L397Q |
probably damaging |
Het |
Slc19a1 |
T |
A |
10: 76,878,742 (GRCm39) |
I355N |
probably damaging |
Het |
Slc51a |
T |
A |
16: 32,295,254 (GRCm39) |
I275F |
possibly damaging |
Het |
Spink14 |
T |
C |
18: 44,164,934 (GRCm39) |
S84P |
probably damaging |
Het |
Stx2 |
A |
G |
5: 129,070,641 (GRCm39) |
|
probably benign |
Het |
Tgfbi |
G |
T |
13: 56,780,006 (GRCm39) |
|
probably benign |
Het |
Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
Upb1 |
T |
C |
10: 75,248,717 (GRCm39) |
V79A |
probably damaging |
Het |
Zdhhc5 |
A |
T |
2: 84,521,587 (GRCm39) |
|
probably null |
Het |
Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
Zfp280d |
T |
C |
9: 72,219,519 (GRCm39) |
V32A |
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 |
|
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 |
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'- TTTCAGACAGGCAAGACGCACG -3'
(R):5'- GAATCAGATGATCGACGCCAGCTAC -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GCCAGCTACTCCCAGATG -3'
|
Posted On |
2013-05-09 |