Incidental Mutation 'R0571:Neo1'
ID |
46467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
038762-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0571 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58893069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 191
(V191A)
|
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: V191A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: V191A
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: V191A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215026
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216941
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217545
|
Meta Mutation Damage Score |
0.0591 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
Validation Efficiency |
100% (71/71) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd4 |
C |
T |
14: 54,500,706 (GRCm39) |
T165I |
possibly damaging |
Het |
Acsl5 |
A |
G |
19: 55,277,343 (GRCm39) |
|
probably benign |
Het |
Actl6b |
C |
A |
5: 137,565,046 (GRCm39) |
|
probably benign |
Het |
Atg13 |
T |
C |
2: 91,509,063 (GRCm39) |
|
probably benign |
Het |
Cabyr |
A |
G |
18: 12,883,909 (GRCm39) |
E132G |
probably damaging |
Het |
Cadps2 |
C |
T |
6: 23,583,411 (GRCm39) |
V389I |
probably damaging |
Het |
Capn2 |
C |
T |
1: 182,298,325 (GRCm39) |
V647I |
probably benign |
Het |
Card10 |
G |
T |
15: 78,671,601 (GRCm39) |
P621Q |
possibly damaging |
Het |
Catsperb |
C |
G |
12: 101,569,033 (GRCm39) |
H902D |
possibly damaging |
Het |
Cers3 |
A |
G |
7: 66,435,805 (GRCm39) |
M255V |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,030,071 (GRCm39) |
|
probably null |
Het |
Chd3 |
A |
C |
11: 69,252,495 (GRCm39) |
|
probably null |
Het |
Chpf2 |
G |
T |
5: 24,795,425 (GRCm39) |
R316L |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,713,550 (GRCm39) |
N694Y |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,289,277 (GRCm39) |
D2909G |
unknown |
Het |
Ctbp2 |
G |
A |
7: 132,616,534 (GRCm39) |
L44F |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,381,102 (GRCm39) |
M1365V |
probably benign |
Het |
D130052B06Rik |
G |
A |
11: 33,573,922 (GRCm39) |
R173H |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,421,203 (GRCm39) |
F406L |
probably damaging |
Het |
Ddx43 |
T |
A |
9: 78,321,145 (GRCm39) |
N384K |
possibly damaging |
Het |
Drd5 |
G |
A |
5: 38,477,270 (GRCm39) |
V88M |
probably damaging |
Het |
Eefsec |
A |
T |
6: 88,274,881 (GRCm39) |
F361Y |
probably benign |
Het |
Epb41 |
T |
C |
4: 131,717,215 (GRCm39) |
D313G |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,748,580 (GRCm39) |
M104T |
probably damaging |
Het |
Fabp7 |
A |
T |
10: 57,661,637 (GRCm39) |
T37S |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,184,834 (GRCm39) |
T30A |
probably benign |
Het |
Fam83d |
G |
A |
2: 158,627,611 (GRCm39) |
W433* |
probably null |
Het |
Fmnl2 |
A |
T |
2: 52,944,503 (GRCm39) |
T161S |
probably benign |
Het |
Ghsr |
C |
T |
3: 27,426,165 (GRCm39) |
R74C |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,040,722 (GRCm39) |
|
probably benign |
Het |
Hamp2 |
A |
G |
7: 30,623,511 (GRCm39) |
L17P |
possibly damaging |
Het |
Heatr1 |
C |
A |
13: 12,445,121 (GRCm39) |
S1581R |
probably damaging |
Het |
Hpf1 |
T |
C |
8: 61,353,147 (GRCm39) |
V176A |
probably benign |
Het |
Hydin |
T |
A |
8: 111,240,735 (GRCm39) |
|
probably null |
Het |
Ighg2c |
G |
A |
12: 113,252,382 (GRCm39) |
Q57* |
probably null |
Het |
Itgb4 |
A |
G |
11: 115,870,594 (GRCm39) |
N141S |
possibly damaging |
Het |
Kif13b |
G |
T |
14: 64,988,977 (GRCm39) |
R786L |
probably damaging |
Het |
Lhx3 |
C |
A |
2: 26,091,136 (GRCm39) |
W391L |
probably damaging |
Het |
Map1s |
T |
A |
8: 71,365,551 (GRCm39) |
V152D |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,865,834 (GRCm39) |
M608T |
probably benign |
Het |
Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,615,621 (GRCm39) |
I328T |
probably damaging |
Het |
Mif-ps9 |
G |
A |
19: 56,743,675 (GRCm39) |
|
noncoding transcript |
Het |
Myh4 |
A |
T |
11: 67,141,157 (GRCm39) |
I740F |
possibly damaging |
Het |
Nfatc4 |
T |
C |
14: 56,067,485 (GRCm39) |
V565A |
probably damaging |
Het |
Nrxn2 |
G |
C |
19: 6,523,563 (GRCm39) |
E525D |
probably damaging |
Het |
Or12k8 |
T |
C |
2: 36,975,346 (GRCm39) |
H138R |
probably benign |
Het |
Pcdhb12 |
A |
T |
18: 37,570,261 (GRCm39) |
D469V |
probably damaging |
Het |
Pcdhb6 |
G |
T |
18: 37,468,167 (GRCm39) |
V363L |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,808,957 (GRCm39) |
T78A |
probably benign |
Het |
Primpol |
T |
G |
8: 47,034,674 (GRCm39) |
D418A |
probably damaging |
Het |
Rbm12b1 |
G |
A |
4: 12,146,248 (GRCm39) |
S740N |
probably benign |
Het |
Rpe65 |
T |
C |
3: 159,305,986 (GRCm39) |
L15P |
probably damaging |
Het |
Rxrb |
CGCGGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGCGGC |
17: 34,251,106 (GRCm39) |
|
probably benign |
Het |
Sectm1a |
A |
G |
11: 120,959,928 (GRCm39) |
|
probably benign |
Het |
Sft2d1 |
C |
A |
17: 8,545,782 (GRCm39) |
|
probably benign |
Het |
Slc22a18 |
A |
G |
7: 143,045,598 (GRCm39) |
|
probably benign |
Het |
Slu7 |
G |
A |
11: 43,332,405 (GRCm39) |
|
probably null |
Het |
Smc4 |
T |
C |
3: 68,931,622 (GRCm39) |
V572A |
probably damaging |
Het |
Spire2 |
T |
A |
8: 124,080,855 (GRCm39) |
I33N |
probably damaging |
Het |
Tbck |
T |
A |
3: 132,458,403 (GRCm39) |
C678S |
probably damaging |
Het |
Tnrc6b |
T |
C |
15: 80,797,539 (GRCm39) |
V1362A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,570,326 (GRCm39) |
K25110E |
possibly damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,148,793 (GRCm39) |
S15G |
possibly damaging |
Het |
Upf3a |
T |
A |
8: 13,842,184 (GRCm39) |
I200K |
probably damaging |
Het |
Vill |
G |
C |
9: 118,899,701 (GRCm39) |
G295A |
possibly damaging |
Het |
Vmn1r191 |
A |
T |
13: 22,363,217 (GRCm39) |
V179D |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,601,629 (GRCm39) |
T670A |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,643,166 (GRCm39) |
T654A |
possibly damaging |
Het |
Zfp646 |
A |
G |
7: 127,481,138 (GRCm39) |
E1105G |
probably damaging |
Het |
Zyg11b |
A |
T |
4: 108,117,239 (GRCm39) |
Y334N |
probably 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 |
|
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'- GTGGCCCACCACTTTCAACAATG -3'
(R):5'- TGCACCTTGCTTTTCCAGCTATGAG -3'
Sequencing Primer
(F):5'- CTTTCAACAATGCAGCGGTAG -3'
(R):5'- gcttttccagctatgaggaatc -3'
|
Posted On |
2013-06-11 |