Incidental Mutation 'R7156:Neo1'
ID |
557319 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
045257-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7156 (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 58810206 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1082
(T1082S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068664]
[ENSMUST00000214547]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068664
AA Change: T1082S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: T1082S
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 damaging
Transcript: ENSMUST00000214547
AA Change: T1066S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.3650 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (81/81) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
C |
7: 40,643,282 (GRCm39) |
I317T |
possibly damaging |
Het |
Acsl5 |
G |
A |
19: 55,257,260 (GRCm39) |
|
probably null |
Het |
Ahrr |
G |
A |
13: 74,378,035 (GRCm39) |
T136I |
probably damaging |
Het |
AI597479 |
G |
A |
1: 43,150,261 (GRCm39) |
D124N |
probably damaging |
Het |
Arap2 |
G |
T |
5: 62,761,914 (GRCm39) |
A1604D |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Cadps2 |
T |
C |
6: 23,688,955 (GRCm39) |
N118S |
probably benign |
Het |
Caskin1 |
T |
A |
17: 24,719,657 (GRCm39) |
|
probably null |
Het |
Cc2d1a |
C |
T |
8: 84,862,389 (GRCm39) |
V684M |
possibly damaging |
Het |
Ccdc91 |
T |
C |
6: 147,435,676 (GRCm39) |
S87P |
possibly damaging |
Het |
Cdr2l |
A |
G |
11: 115,281,792 (GRCm39) |
Q99R |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,715,203 (GRCm39) |
L2066P |
possibly damaging |
Het |
Cep95 |
A |
C |
11: 106,700,050 (GRCm39) |
L313F |
possibly damaging |
Het |
Chst10 |
G |
A |
1: 38,913,088 (GRCm39) |
T63M |
probably damaging |
Het |
Clrn2 |
G |
A |
5: 45,611,258 (GRCm39) |
G36R |
probably damaging |
Het |
Cnn2 |
T |
G |
10: 79,830,349 (GRCm39) |
Y273* |
probably null |
Het |
Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,171,964 (GRCm39) |
T735A |
possibly damaging |
Het |
Disp2 |
C |
T |
2: 118,622,292 (GRCm39) |
A1008V |
probably damaging |
Het |
Dmrt3 |
A |
G |
19: 25,588,317 (GRCm39) |
D52G |
probably damaging |
Het |
Dmrta1 |
T |
G |
4: 89,576,700 (GRCm39) |
L52R |
probably damaging |
Het |
Dmrta2 |
A |
G |
4: 109,839,185 (GRCm39) |
T311A |
probably damaging |
Het |
Dnm1 |
T |
A |
2: 32,230,479 (GRCm39) |
N112Y |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,064,858 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
G |
5: 110,833,229 (GRCm39) |
F2034L |
unknown |
Het |
F12 |
G |
A |
13: 55,566,310 (GRCm39) |
A494V |
probably damaging |
Het |
Fbp2 |
A |
T |
13: 62,989,675 (GRCm39) |
F210L |
probably benign |
Het |
Fbxo31 |
T |
A |
8: 122,281,060 (GRCm39) |
Q362L |
possibly damaging |
Het |
Fkbp4 |
C |
T |
6: 128,412,787 (GRCm39) |
A95T |
probably benign |
Het |
Frmd6 |
T |
G |
12: 70,923,983 (GRCm39) |
C80W |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,813,085 (GRCm39) |
I3135V |
probably benign |
Het |
Garre1 |
G |
T |
7: 33,945,133 (GRCm39) |
N582K |
possibly damaging |
Het |
Guca2b |
T |
A |
4: 119,514,887 (GRCm39) |
E34V |
probably damaging |
Het |
Hdlbp |
G |
A |
1: 93,341,637 (GRCm39) |
T974I |
probably damaging |
Het |
Hsdl2 |
T |
A |
4: 59,617,653 (GRCm39) |
M460K |
possibly damaging |
Het |
Ift172 |
C |
T |
5: 31,429,419 (GRCm39) |
V581M |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,549,189 (GRCm39) |
K313R |
possibly damaging |
Het |
Ints4 |
T |
A |
7: 97,184,493 (GRCm39) |
|
probably null |
Het |
Iqca1l |
C |
T |
5: 24,757,648 (GRCm39) |
E150K |
probably benign |
Het |
Kif21b |
A |
C |
1: 136,075,562 (GRCm39) |
T230P |
probably damaging |
Het |
Kit |
A |
T |
5: 75,776,034 (GRCm39) |
Y272F |
probably benign |
Het |
Krt77 |
G |
A |
15: 101,773,931 (GRCm39) |
T241M |
probably benign |
Het |
Lce1j |
T |
A |
3: 92,696,491 (GRCm39) |
S96C |
unknown |
Het |
Marveld3 |
T |
A |
8: 110,674,820 (GRCm39) |
D332V |
probably damaging |
Het |
Matr3 |
G |
T |
18: 35,705,974 (GRCm39) |
V300F |
probably damaging |
Het |
Mical1 |
T |
A |
10: 41,361,253 (GRCm39) |
|
probably null |
Het |
Mslnl |
T |
A |
17: 25,962,184 (GRCm39) |
V194E |
probably benign |
Het |
Mug1 |
C |
A |
6: 121,857,864 (GRCm39) |
T1119K |
probably damaging |
Het |
Mug1 |
C |
T |
6: 121,861,302 (GRCm39) |
P1308S |
probably damaging |
Het |
Neb |
C |
A |
2: 52,195,295 (GRCm39) |
|
probably null |
Het |
Nkx6-2 |
C |
T |
7: 139,162,045 (GRCm39) |
|
probably null |
Het |
Or10g6 |
T |
C |
9: 39,934,526 (GRCm39) |
I279T |
probably benign |
Het |
Or8k27 |
T |
A |
2: 86,275,652 (GRCm39) |
I225L |
probably damaging |
Het |
Orc1 |
A |
T |
4: 108,452,656 (GRCm39) |
E177V |
probably benign |
Het |
Parp1 |
G |
A |
1: 180,426,629 (GRCm39) |
V924I |
possibly damaging |
Het |
Pax2 |
A |
T |
19: 44,777,298 (GRCm39) |
I165F |
probably benign |
Het |
Pnma2 |
C |
T |
14: 67,153,980 (GRCm39) |
P135S |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,247,420 (GRCm39) |
I718T |
probably damaging |
Het |
Rbm25 |
T |
A |
12: 83,710,965 (GRCm39) |
D359E |
unknown |
Het |
Rgs3 |
T |
C |
4: 62,535,363 (GRCm39) |
L194P |
probably damaging |
Het |
Serpinb6b |
A |
G |
13: 33,155,598 (GRCm39) |
I104V |
probably benign |
Het |
Smg9 |
A |
G |
7: 24,120,286 (GRCm39) |
D420G |
probably benign |
Het |
Smpd1 |
C |
T |
7: 105,203,693 (GRCm39) |
|
probably benign |
Het |
Snx17 |
T |
A |
5: 31,354,692 (GRCm39) |
M318K |
probably damaging |
Het |
Spata31e5 |
A |
T |
1: 28,815,848 (GRCm39) |
M728K |
possibly damaging |
Het |
Stard10 |
G |
A |
7: 100,995,258 (GRCm39) |
D337N |
probably damaging |
Het |
Tex14 |
A |
G |
11: 87,375,545 (GRCm39) |
T103A |
probably damaging |
Het |
Tle1 |
A |
G |
4: 72,088,953 (GRCm39) |
S97P |
probably benign |
Het |
Tnfrsf8 |
T |
A |
4: 145,041,654 (GRCm39) |
M1L |
unknown |
Het |
Traf3ip2 |
T |
C |
10: 39,502,173 (GRCm39) |
L107P |
possibly damaging |
Het |
Trpc7 |
A |
T |
13: 56,937,579 (GRCm39) |
S626T |
possibly damaging |
Het |
Ubl7 |
T |
A |
9: 57,837,039 (GRCm39) |
I350N |
probably damaging |
Het |
Ubr3 |
T |
A |
2: 69,851,967 (GRCm39) |
I1878N |
probably damaging |
Het |
Usp24 |
G |
T |
4: 106,245,116 (GRCm39) |
|
probably null |
Het |
Vcan |
A |
T |
13: 89,837,229 (GRCm39) |
S2772T |
possibly damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,686,851 (GRCm39) |
V744A |
probably damaging |
Het |
Wbp2nl |
T |
C |
15: 82,189,903 (GRCm39) |
S32P |
probably damaging |
Het |
Wwc1 |
A |
G |
11: 35,788,201 (GRCm39) |
|
probably null |
Het |
Zfp629 |
C |
T |
7: 127,211,463 (GRCm39) |
W115* |
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 |
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'- TCTGCCCAGATACAGACAGC -3'
(R):5'- ATTGCTCTGGACAGGTTACATC -3'
Sequencing Primer
(F):5'- AACGTTTCCCTCTGGGTGGAC -3'
(R):5'- GGTTACATCATCTATTACAGCACGG -3'
|
Posted On |
2019-06-26 |