Incidental Mutation 'R6658:Neo1'
ID |
526725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6658 (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 A
at 58829132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 589
(T589I)
|
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: T589I
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: T589I
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: T589I
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215026
|
Predicted Effect |
unknown
Transcript: ENSMUST00000216964
AA Change: T316I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217545
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
96% (53/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
G |
9: 90,077,353 (GRCm39) |
N1340S |
probably damaging |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Antxr1 |
C |
A |
6: 87,261,291 (GRCm39) |
R167L |
probably damaging |
Het |
BC107364 |
T |
C |
3: 96,348,026 (GRCm39) |
S88G |
unknown |
Het |
Cfap100 |
T |
G |
6: 90,390,400 (GRCm39) |
E80A |
probably damaging |
Het |
Dhx8 |
C |
A |
11: 101,655,748 (GRCm39) |
H1107Q |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,543,213 (GRCm39) |
|
probably null |
Het |
Dpep2 |
A |
T |
8: 106,716,542 (GRCm39) |
D212E |
probably benign |
Het |
Dpep3 |
T |
C |
8: 106,705,728 (GRCm39) |
T66A |
probably benign |
Het |
Fat4 |
G |
T |
3: 38,997,077 (GRCm39) |
M1765I |
probably benign |
Het |
Gbgt1 |
G |
A |
2: 28,394,998 (GRCm39) |
R212H |
probably benign |
Het |
Gimap4 |
T |
C |
6: 48,668,338 (GRCm39) |
S215P |
possibly damaging |
Het |
Gpr161 |
A |
T |
1: 165,134,136 (GRCm39) |
T133S |
possibly damaging |
Het |
Grin2c |
G |
T |
11: 115,149,108 (GRCm39) |
S163R |
possibly damaging |
Het |
Grip2 |
T |
A |
6: 91,763,472 (GRCm39) |
N109Y |
probably damaging |
Het |
H60c |
G |
A |
10: 3,210,270 (GRCm39) |
T93I |
possibly damaging |
Het |
Hmgcl |
A |
G |
4: 135,682,962 (GRCm39) |
N138S |
probably damaging |
Het |
Hoxa3 |
G |
T |
6: 52,147,058 (GRCm39) |
Y398* |
probably null |
Het |
Igkv1-132 |
A |
G |
6: 67,737,091 (GRCm39) |
N19S |
probably benign |
Het |
Ikbip |
A |
G |
10: 90,932,181 (GRCm39) |
N275S |
probably benign |
Het |
Il7 |
T |
A |
3: 7,642,239 (GRCm39) |
T33S |
probably benign |
Het |
Iqgap2 |
A |
T |
13: 95,796,840 (GRCm39) |
Y1105N |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,148,281 (GRCm39) |
D934G |
possibly damaging |
Het |
Mroh4 |
T |
C |
15: 74,492,978 (GRCm39) |
Q310R |
possibly damaging |
Het |
Mtmr14 |
C |
A |
6: 113,242,437 (GRCm39) |
Y22* |
probably null |
Het |
Muc5b |
G |
T |
7: 141,422,244 (GRCm39) |
|
probably null |
Het |
Naga |
T |
G |
15: 82,214,975 (GRCm39) |
K328Q |
probably benign |
Het |
Nme5 |
A |
C |
18: 34,711,639 (GRCm39) |
I34S |
probably damaging |
Het |
Nrip2 |
T |
C |
6: 128,385,199 (GRCm39) |
L210P |
possibly damaging |
Het |
Nup93 |
A |
G |
8: 95,030,807 (GRCm39) |
D424G |
probably benign |
Het |
Or12e9 |
T |
C |
2: 87,202,497 (GRCm39) |
V207A |
probably benign |
Het |
Or1e26 |
G |
A |
11: 73,479,874 (GRCm39) |
S230F |
probably damaging |
Het |
Papss1 |
T |
A |
3: 131,311,696 (GRCm39) |
V308E |
probably benign |
Het |
Pilrb1 |
T |
A |
5: 137,855,789 (GRCm39) |
Y34F |
probably benign |
Het |
Pira2 |
T |
A |
7: 3,845,300 (GRCm39) |
E319D |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,682,929 (GRCm39) |
T91M |
probably damaging |
Het |
Prph2 |
A |
G |
17: 47,230,790 (GRCm39) |
T228A |
probably benign |
Het |
Ranbp17 |
G |
T |
11: 33,169,214 (GRCm39) |
S1000* |
probably null |
Het |
Rbm27 |
A |
C |
18: 42,457,178 (GRCm39) |
H651P |
probably damaging |
Het |
Scyl2 |
A |
T |
10: 89,476,835 (GRCm39) |
D763E |
probably benign |
Het |
Sltm |
A |
G |
9: 70,488,644 (GRCm39) |
Y598C |
probably damaging |
Het |
Smc2 |
A |
T |
4: 52,451,322 (GRCm39) |
K322I |
probably benign |
Het |
Tcf4 |
G |
A |
18: 69,790,873 (GRCm39) |
R271Q |
probably null |
Het |
Tex36 |
C |
T |
7: 133,196,140 (GRCm39) |
D87N |
probably damaging |
Het |
Tex44 |
A |
C |
1: 86,354,751 (GRCm39) |
H220P |
probably benign |
Het |
Tjp1 |
T |
C |
7: 64,950,825 (GRCm39) |
D1683G |
possibly damaging |
Het |
Trav7-2 |
T |
C |
14: 53,628,573 (GRCm39) |
S104P |
probably damaging |
Het |
Trim55 |
C |
T |
3: 19,745,719 (GRCm39) |
R532C |
probably damaging |
Het |
Ube3c |
T |
A |
5: 29,807,215 (GRCm39) |
L338Q |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,546,556 (GRCm39) |
H3444R |
possibly damaging |
Het |
Vars1 |
A |
G |
17: 35,234,717 (GRCm39) |
D1182G |
probably benign |
Het |
Vit |
T |
A |
17: 78,930,232 (GRCm39) |
I399N |
possibly damaging |
Het |
Vmn1r16 |
A |
T |
6: 57,300,091 (GRCm39) |
L177* |
probably null |
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 |
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'- AGGTAATGTTCTACTGCTGAGC -3'
(R):5'- AGCACATGTACTCCTGAGTTTG -3'
Sequencing Primer
(F):5'- AATGTTCTACTGCTGAGCTGTATC -3'
(R):5'- CACATGTACTCCTGAGTTTGTAAATC -3'
|
Posted On |
2018-07-23 |