Incidental Mutation 'R5492:Ngdn'
| ID |
501117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngdn
|
| Ensembl Gene |
ENSMUSG00000022204 |
| Gene Name |
neuroguidin, EIF4E binding protein |
| Synonyms |
1500001L15Rik, Ngd, neuroguidin |
| MMRRC Submission |
043053-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55252911-55261594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55260509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 239
(V239A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022815]
|
| AlphaFold |
Q9DB96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022815
AA Change: V239A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022815
Gene: ENSMUSG00000022204
AA Change: V239A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sas10_Utp3
|
18 |
98 |
1.3e-18 |
PFAM |
|
low complexity region
|
142 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227833
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,073,176 (GRCm39) |
Y328H |
probably benign |
Het |
| Abcg4 |
T |
C |
9: 44,189,355 (GRCm39) |
T381A |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
| Drg2 |
A |
C |
11: 60,352,422 (GRCm39) |
H208P |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
| Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
| Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
| Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
| Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
| Plin1 |
G |
A |
7: 79,375,460 (GRCm39) |
R151* |
probably null |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
| Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
| Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
| Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
| Tsn |
A |
G |
1: 118,232,443 (GRCm39) |
V144A |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,056 (GRCm39) |
C381S |
probably damaging |
Het |
| Zfyve19 |
A |
T |
2: 119,039,595 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ngdn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Ngdn
|
APN |
14 |
55,260,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01301:Ngdn
|
APN |
14 |
55,254,571 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02350:Ngdn
|
APN |
14 |
55,259,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02357:Ngdn
|
APN |
14 |
55,259,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU18:Ngdn
|
UTSW |
14 |
55,254,571 (GRCm39) |
missense |
probably benign |
0.15 |
|
PIT4651001:Ngdn
|
UTSW |
14 |
55,253,657 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2062:Ngdn
|
UTSW |
14 |
55,259,564 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2251:Ngdn
|
UTSW |
14 |
55,260,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5167:Ngdn
|
UTSW |
14 |
55,259,656 (GRCm39) |
nonsense |
probably null |
|
|
R6174:Ngdn
|
UTSW |
14 |
55,259,556 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6712:Ngdn
|
UTSW |
14 |
55,253,645 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7866:Ngdn
|
UTSW |
14 |
55,258,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Ngdn
|
UTSW |
14 |
55,260,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9587:Ngdn
|
UTSW |
14 |
55,254,578 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9669:Ngdn
|
UTSW |
14 |
55,259,339 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9737:Ngdn
|
UTSW |
14 |
55,259,339 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
X0025:Ngdn
|
UTSW |
14 |
55,259,372 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Ngdn
|
UTSW |
14 |
55,259,401 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGATGTGTGCGCATCCTG -3'
(R):5'- CCCGGGCTTTCTATATGAAGCC -3'
Sequencing Primer
(F):5'- CATCCTGGGGACTCTGGATGAG -3'
(R):5'- TCTATATGAAGCCCACGTGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation