Incidental Mutation 'R7061:Neo1'
ID |
548273 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
045384-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7061 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58897724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 77
(R77S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068664]
[ENSMUST00000214547]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068664
AA Change: R77S
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: R77S
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 |
possibly damaging
Transcript: ENSMUST00000214547
AA Change: R77S
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (68/69) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aard |
G |
A |
15: 51,903,617 (GRCm39) |
M13I |
probably benign |
Het |
Abcb5 |
A |
C |
12: 118,841,509 (GRCm39) |
Y979D |
probably damaging |
Het |
Adgrb1 |
G |
C |
15: 74,441,730 (GRCm39) |
V4L |
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,110,757 (GRCm39) |
R1006Q |
unknown |
Het |
Bpifa6 |
A |
T |
2: 153,834,236 (GRCm39) |
T343S |
probably benign |
Het |
Celsr3 |
T |
A |
9: 108,724,793 (GRCm39) |
C2957* |
probably null |
Het |
Chd6 |
G |
A |
2: 160,867,885 (GRCm39) |
Q428* |
probably null |
Het |
Col5a1 |
C |
A |
2: 27,915,690 (GRCm39) |
C191* |
probably null |
Het |
Cpox |
A |
G |
16: 58,491,223 (GRCm39) |
I145V |
possibly damaging |
Het |
Csnk2a1 |
C |
T |
2: 152,116,091 (GRCm39) |
R268C |
probably benign |
Het |
Dclk2 |
A |
G |
3: 86,739,038 (GRCm39) |
|
probably null |
Het |
Dennd5a |
T |
C |
7: 109,504,386 (GRCm39) |
E909G |
probably benign |
Het |
Depdc1a |
T |
A |
3: 159,228,489 (GRCm39) |
S414T |
possibly damaging |
Het |
Dock5 |
A |
G |
14: 68,007,703 (GRCm39) |
F1502S |
probably damaging |
Het |
Dop1b |
G |
T |
16: 93,558,951 (GRCm39) |
A448S |
probably benign |
Het |
Dsg1c |
C |
A |
18: 20,410,066 (GRCm39) |
N511K |
probably benign |
Het |
Epc2 |
G |
T |
2: 49,425,334 (GRCm39) |
R108L |
probably damaging |
Het |
Erp44 |
T |
A |
4: 48,219,375 (GRCm39) |
I147F |
probably benign |
Het |
Evc |
T |
C |
5: 37,476,446 (GRCm39) |
T368A |
possibly damaging |
Het |
Fbxo41 |
G |
T |
6: 85,452,448 (GRCm39) |
R738S |
probably benign |
Het |
Fli1 |
T |
C |
9: 32,335,518 (GRCm39) |
T305A |
probably damaging |
Het |
Grk5 |
A |
G |
19: 61,034,530 (GRCm39) |
T93A |
probably benign |
Het |
Grm2 |
A |
T |
9: 106,528,424 (GRCm39) |
N153K |
probably damaging |
Het |
Helz |
A |
G |
11: 107,540,003 (GRCm39) |
T1007A |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,882,307 (GRCm39) |
L162P |
probably damaging |
Het |
Hmgcr |
T |
A |
13: 96,802,656 (GRCm39) |
Q81L |
possibly damaging |
Het |
Hnrnpu |
T |
C |
1: 178,163,691 (GRCm39) |
K218E |
unknown |
Het |
Hydin |
A |
T |
8: 111,329,920 (GRCm39) |
I4885F |
possibly damaging |
Het |
Ibsp |
A |
G |
5: 104,457,768 (GRCm39) |
|
probably null |
Het |
Igfals |
T |
C |
17: 25,099,281 (GRCm39) |
L124P |
probably damaging |
Het |
Il24 |
T |
A |
1: 130,811,108 (GRCm39) |
H142L |
possibly damaging |
Het |
Iqca1l |
A |
G |
5: 24,750,063 (GRCm39) |
M660T |
probably benign |
Het |
Kcnh2 |
A |
T |
5: 24,536,920 (GRCm39) |
H221Q |
probably benign |
Het |
Man1a |
A |
G |
10: 53,796,331 (GRCm39) |
S454P |
probably damaging |
Het |
Meiosin |
A |
T |
7: 18,834,053 (GRCm39) |
|
probably benign |
Het |
Mfsd4b1 |
C |
T |
10: 39,879,382 (GRCm39) |
V172M |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,946,008 (GRCm39) |
I763K |
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,955,749 (GRCm39) |
I594M |
possibly damaging |
Het |
Nlrp6 |
A |
G |
7: 140,502,780 (GRCm39) |
I265M |
probably benign |
Het |
Or52n5 |
T |
C |
7: 104,587,883 (GRCm39) |
L50P |
probably damaging |
Het |
Or5bw2 |
A |
G |
7: 6,573,782 (GRCm39) |
Y264C |
probably damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,942 (GRCm39) |
V276D |
possibly damaging |
Het |
Pcdhgb5 |
C |
A |
18: 37,864,976 (GRCm39) |
P257Q |
probably benign |
Het |
Phactr1 |
A |
G |
13: 43,286,457 (GRCm39) |
D586G |
probably damaging |
Het |
Pkn3 |
T |
A |
2: 29,973,548 (GRCm39) |
|
probably null |
Het |
Prob1 |
A |
T |
18: 35,787,553 (GRCm39) |
S234T |
probably benign |
Het |
Rab14 |
A |
T |
2: 35,073,429 (GRCm39) |
L131* |
probably null |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Rhebl1 |
A |
G |
15: 98,777,164 (GRCm39) |
L103P |
probably damaging |
Het |
Rnf10 |
G |
T |
5: 115,395,149 (GRCm39) |
F146L |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,831,087 (GRCm39) |
K360R |
possibly damaging |
Het |
Slc6a9 |
C |
T |
4: 117,725,261 (GRCm39) |
T575I |
probably benign |
Het |
Smo |
A |
G |
6: 29,760,229 (GRCm39) |
H776R |
probably damaging |
Het |
Speer1f |
T |
C |
5: 11,469,071 (GRCm39) |
V74A |
possibly damaging |
Het |
Tns2 |
A |
G |
15: 102,012,914 (GRCm39) |
M1V |
probably null |
Het |
Ttn |
C |
A |
2: 76,725,036 (GRCm39) |
|
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,306,240 (GRCm39) |
M130L |
probably benign |
Het |
Urb2 |
C |
T |
8: 124,755,036 (GRCm39) |
H248Y |
probably benign |
Het |
Vit |
A |
T |
17: 78,932,585 (GRCm39) |
N564I |
probably damaging |
Het |
Vmn1r60 |
A |
T |
7: 5,547,310 (GRCm39) |
Y263* |
probably null |
Het |
Vmn2r16 |
A |
T |
5: 109,511,620 (GRCm39) |
Y609F |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,908,512 (GRCm39) |
I876V |
probably benign |
Het |
Zfp442 |
A |
G |
2: 150,249,937 (GRCm39) |
I655T |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,779,622 (GRCm39) |
C215S |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,121,069 (GRCm39) |
T173A |
probably benign |
Het |
Zfp69 |
A |
T |
4: 120,788,598 (GRCm39) |
V239D |
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 |
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'- GTTCCAAGATTATCCACAGTGGC -3'
(R):5'- GACATCAATGGCATATCATTCAGC -3'
Sequencing Primer
(F):5'- GTGGCTACACACTGATAGAAACCTTC -3'
(R):5'- TGGCATATCATTCAGCAATAATCTG -3'
|
Posted On |
2019-05-13 |