Incidental Mutation 'R7915:Neo1'
ID |
648027 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
045963-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7915 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58838264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 507
(F507I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063656
(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: F507I
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: F507I
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: F507I
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (66/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
G |
17: 24,484,507 (GRCm39) |
H1585P |
probably damaging |
Het |
Acaca |
A |
T |
11: 84,167,414 (GRCm39) |
T1063S |
probably benign |
Het |
Actc1 |
T |
A |
2: 113,880,967 (GRCm39) |
K86M |
probably damaging |
Het |
Amz1 |
A |
G |
5: 140,727,190 (GRCm39) |
N51S |
probably benign |
Het |
Arhgap33 |
G |
A |
7: 30,222,648 (GRCm39) |
P1095S |
probably benign |
Het |
Bicra |
T |
C |
7: 15,722,447 (GRCm39) |
T357A |
probably benign |
Het |
C130032M10Rik |
A |
G |
9: 114,345,123 (GRCm39) |
R120G |
unknown |
Het |
Cadps |
A |
G |
14: 12,705,544 (GRCm38) |
F284L |
possibly damaging |
Het |
Ccdc83 |
G |
A |
7: 89,893,290 (GRCm39) |
Q156* |
probably null |
Het |
Cdh20 |
T |
A |
1: 104,861,898 (GRCm39) |
M26K |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,143,668 (GRCm39) |
L2979P |
probably damaging |
Het |
Cdhr17 |
A |
G |
5: 17,032,012 (GRCm39) |
N556D |
probably benign |
Het |
Crocc2 |
T |
C |
1: 93,141,363 (GRCm39) |
L1172P |
probably damaging |
Het |
Cyp2d10 |
C |
T |
15: 82,288,628 (GRCm39) |
|
probably null |
Het |
Cyp2j9 |
T |
A |
4: 96,479,621 (GRCm39) |
|
probably benign |
Het |
Dgcr2 |
A |
G |
16: 17,677,266 (GRCm39) |
|
probably null |
Het |
Dio3 |
A |
G |
12: 110,246,473 (GRCm39) |
M270V |
|
Het |
Dll1 |
C |
A |
17: 15,588,690 (GRCm39) |
D662Y |
probably damaging |
Het |
Drd1 |
G |
T |
13: 54,207,834 (GRCm39) |
P127T |
probably damaging |
Het |
Evc2 |
T |
C |
5: 37,544,206 (GRCm39) |
S652P |
probably damaging |
Het |
Fam149a |
C |
A |
8: 45,794,280 (GRCm39) |
M708I |
probably benign |
Het |
Fam89a |
T |
C |
8: 125,467,895 (GRCm39) |
E139G |
probably damaging |
Het |
Gpr141 |
T |
C |
13: 19,936,729 (GRCm39) |
I15M |
probably benign |
Het |
Hcn4 |
G |
A |
9: 58,731,218 (GRCm39) |
E142K |
unknown |
Het |
Hivep3 |
T |
A |
4: 119,954,962 (GRCm39) |
S1093T |
possibly damaging |
Het |
Inpp5f |
C |
A |
7: 128,269,433 (GRCm39) |
T261K |
probably benign |
Het |
Ints3 |
A |
T |
3: 90,340,132 (GRCm39) |
D42E |
probably benign |
Het |
Krt90 |
A |
T |
15: 101,466,838 (GRCm39) |
|
probably null |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lrig1 |
C |
A |
6: 94,607,082 (GRCm39) |
|
probably null |
Het |
Mapk14 |
A |
G |
17: 28,947,928 (GRCm39) |
T221A |
probably benign |
Het |
Megf10 |
A |
T |
18: 57,373,807 (GRCm39) |
T202S |
probably benign |
Het |
Or7a35 |
A |
G |
10: 78,853,264 (GRCm39) |
Y36C |
probably damaging |
Het |
Or8b48 |
A |
T |
9: 38,492,969 (GRCm39) |
Y132F |
probably damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,110 (GRCm39) |
*314L |
probably null |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,811,630 (GRCm39) |
Y3724* |
probably null |
Het |
Plxnd1 |
T |
C |
6: 115,943,879 (GRCm39) |
D1140G |
probably benign |
Het |
Pramel22 |
T |
C |
4: 143,382,315 (GRCm39) |
K127R |
possibly damaging |
Het |
Prex1 |
A |
G |
2: 166,463,112 (GRCm39) |
S250P |
probably damaging |
Het |
Prom1 |
A |
T |
5: 44,162,277 (GRCm39) |
M777K |
possibly damaging |
Het |
Prrc2c |
A |
C |
1: 162,519,977 (GRCm39) |
S2125A |
probably benign |
Het |
Ptpn12 |
A |
G |
5: 21,214,449 (GRCm39) |
I229T |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,790,073 (GRCm39) |
V93A |
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,434,865 (GRCm39) |
C376R |
probably benign |
Het |
Sis |
A |
C |
3: 72,828,471 (GRCm39) |
H1201Q |
probably damaging |
Het |
Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
Slc3a2 |
G |
A |
19: 8,685,182 (GRCm39) |
R535W |
probably damaging |
Het |
Slc5a2 |
T |
A |
7: 127,864,966 (GRCm39) |
L33Q |
probably damaging |
Het |
Sltm |
G |
T |
9: 70,494,431 (GRCm39) |
R927L |
probably damaging |
Het |
Spaca7b |
T |
C |
8: 11,728,645 (GRCm39) |
T9A |
possibly damaging |
Het |
Stat1 |
A |
G |
1: 52,190,440 (GRCm39) |
D565G |
probably benign |
Het |
Terb1 |
T |
C |
8: 105,173,848 (GRCm39) |
K745R |
possibly damaging |
Het |
Tescl |
T |
C |
7: 24,033,113 (GRCm39) |
I71V |
probably damaging |
Het |
Tgm1 |
T |
C |
14: 55,937,883 (GRCm39) |
D742G |
probably damaging |
Het |
Tmem128 |
T |
A |
5: 38,423,875 (GRCm39) |
W30R |
probably benign |
Het |
Tox |
T |
A |
4: 6,822,949 (GRCm39) |
M123L |
probably benign |
Het |
Tsnaxip1 |
A |
G |
8: 106,569,413 (GRCm39) |
S547G |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,567,539 (GRCm39) |
K27785* |
probably null |
Het |
Tut7 |
T |
C |
13: 59,932,628 (GRCm39) |
I1345V |
probably benign |
Het |
Usp38 |
A |
C |
8: 81,727,712 (GRCm39) |
S340R |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,340,956 (GRCm39) |
H2840Q |
probably damaging |
Het |
Vars2 |
T |
C |
17: 35,975,731 (GRCm39) |
I229V |
probably damaging |
Het |
Vmn1r16 |
A |
T |
6: 57,300,380 (GRCm39) |
Y81N |
probably damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,287,493 (GRCm39) |
D442V |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,813,389 (GRCm39) |
I3296V |
|
Het |
Wwtr1 |
A |
G |
3: 57,483,020 (GRCm39) |
|
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 |
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 |
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'- ATAACACTTCCCCTAATAATGGGG -3'
(R):5'- GCACATGACAAGATGTTGCC -3'
Sequencing Primer
(F):5'- GGGGAAGACATATTTCAACAATCTTG -3'
(R):5'- GTTGCCATCCCAACATTACC -3'
|
Posted On |
2020-09-15 |