Incidental Mutation 'R6122:Neo1'
| ID |
485779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neo1
|
| Ensembl Gene |
ENSMUSG00000032340 |
| Gene Name |
neogenin |
| Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
| MMRRC Submission |
044269-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6122 (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 58824291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 712
(D712E)
|
| 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: D712E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: D712E
| 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: D712E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217545
|
| Meta Mutation Damage Score |
0.0699 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,750 (GRCm39) |
*301W |
probably null |
Het |
| Abat |
A |
G |
16: 8,423,414 (GRCm39) |
I236V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,961,249 (GRCm39) |
T558A |
probably benign |
Het |
| Ace3 |
A |
C |
11: 105,885,764 (GRCm39) |
M57L |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,729,129 (GRCm39) |
S18P |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,934,064 (GRCm39) |
D60G |
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,870,080 (GRCm39) |
|
probably null |
Het |
| Arnt2 |
C |
A |
7: 84,010,773 (GRCm39) |
K34N |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,494,021 (GRCm39) |
M152K |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Blvrb |
G |
A |
7: 27,158,773 (GRCm39) |
A58T |
possibly damaging |
Het |
| Bpifa1 |
C |
T |
2: 153,985,892 (GRCm39) |
T69I |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,320,997 (GRCm39) |
M1366L |
probably benign |
Het |
| Ccdc82 |
A |
G |
9: 13,266,880 (GRCm39) |
I361V |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,631,927 (GRCm39) |
I193F |
possibly damaging |
Het |
| Crb1 |
A |
T |
1: 139,176,686 (GRCm39) |
Y371* |
probably null |
Het |
| Cul9 |
T |
C |
17: 46,832,854 (GRCm39) |
D1363G |
possibly damaging |
Het |
| Cyp2j8 |
C |
T |
4: 96,332,877 (GRCm39) |
A490T |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,086,637 (GRCm39) |
S780T |
probably benign |
Het |
| Fzd5 |
G |
T |
1: 64,774,815 (GRCm39) |
C315* |
probably null |
Het |
| Gabrr1 |
T |
C |
4: 33,161,695 (GRCm39) |
S340P |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,979,200 (GRCm39) |
D641G |
probably damaging |
Het |
| Gm7133 |
A |
G |
1: 97,110,948 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
A |
G |
17: 79,120,602 (GRCm39) |
L774P |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,015,985 (GRCm39) |
S157T |
probably benign |
Het |
| Itgam |
A |
C |
7: 127,684,824 (GRCm39) |
D398A |
probably damaging |
Het |
| Kalrn |
G |
T |
16: 33,805,561 (GRCm39) |
L2659M |
possibly damaging |
Het |
| Kcnj14 |
C |
A |
7: 45,468,875 (GRCm39) |
R210L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,758,573 (GRCm39) |
|
probably benign |
Het |
| Krt1c |
G |
C |
15: 101,724,349 (GRCm39) |
T305S |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
| Naf1 |
T |
A |
8: 67,336,096 (GRCm39) |
I341K |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,937,317 (GRCm39) |
H765N |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,975,278 (GRCm39) |
I776V |
probably benign |
Het |
| Neu1 |
G |
A |
17: 35,153,730 (GRCm39) |
V385I |
probably benign |
Het |
| Or14j3 |
C |
A |
17: 37,900,817 (GRCm39) |
R142S |
probably benign |
Het |
| Or51a6 |
C |
A |
7: 102,604,011 (GRCm39) |
G273C |
probably damaging |
Het |
| Or51a6 |
A |
G |
7: 102,604,737 (GRCm39) |
Y24H |
probably benign |
Het |
| Pgghg |
A |
C |
7: 140,523,308 (GRCm39) |
T196P |
possibly damaging |
Het |
| Pira2 |
A |
T |
7: 3,845,445 (GRCm39) |
V313E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,809,107 (GRCm39) |
R28G |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,509 (GRCm39) |
N21K |
probably damaging |
Het |
| Prune1 |
T |
C |
3: 95,169,554 (GRCm39) |
D216G |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,216,893 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,301,351 (GRCm39) |
M668K |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpsa |
G |
T |
9: 119,960,102 (GRCm39) |
V222L |
probably benign |
Het |
| Septin2 |
A |
G |
1: 93,425,098 (GRCm39) |
T45A |
probably damaging |
Het |
| Slc12a8 |
A |
T |
16: 33,445,384 (GRCm39) |
D260V |
probably damaging |
Het |
| Srrm2 |
G |
T |
17: 24,039,330 (GRCm39) |
M2087I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,700,306 (GRCm39) |
L88P |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 73,991,578 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
T |
9: 103,224,160 (GRCm39) |
D1429V |
probably benign |
Het |
| Tprg1 |
A |
G |
16: 25,241,151 (GRCm39) |
|
probably null |
Het |
| Trit1 |
T |
C |
4: 122,933,261 (GRCm39) |
I66T |
possibly damaging |
Het |
| Usf3 |
A |
T |
16: 44,037,670 (GRCm39) |
I717L |
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 |
|
|
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 |
|
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'- TTCAACTCCTCAGCGATGGAG -3'
(R):5'- GGGTTTTATAGCATGTACAGTCAG -3'
Sequencing Primer
(F):5'- GGAGGAATCCACCAGAGTATTTTCC -3'
(R):5'- TGTACAGTCAGGAACAGCCCTTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation