Incidental Mutation 'R6712:Ngdn'
| ID |
529181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngdn
|
| Ensembl Gene |
ENSMUSG00000022204 |
| Gene Name |
neuroguidin, EIF4E binding protein |
| Synonyms |
1500001L15Rik, Ngd, neuroguidin |
| MMRRC Submission |
044830-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55252911-55261594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55253645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 11
(V11A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022815]
|
| AlphaFold |
Q9DB96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022815
AA Change: V11A
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022815
Gene: ENSMUSG00000022204
AA Change: V11A
| 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: ENSMUST00000226658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227833
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
G |
A |
17: 32,551,862 (GRCm39) |
T443M |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,798,644 (GRCm39) |
V950D |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,733,852 (GRCm39) |
K3014E |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,318,908 (GRCm39) |
Y1586H |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,014,457 (GRCm39) |
I2010N |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,514,583 (GRCm39) |
M1446L |
probably benign |
Het |
| Fcmr |
T |
C |
1: 130,805,588 (GRCm39) |
L274P |
probably damaging |
Het |
| Foxn1 |
T |
G |
11: 78,252,085 (GRCm39) |
D382A |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,226,993 (GRCm39) |
R1721G |
possibly damaging |
Het |
| H2aj |
A |
G |
6: 136,785,524 (GRCm39) |
I63V |
probably benign |
Het |
| Mfsd9 |
T |
C |
1: 40,825,601 (GRCm39) |
|
probably null |
Het |
| Mis18a |
T |
C |
16: 90,524,045 (GRCm39) |
E39G |
possibly damaging |
Het |
| Mmp27 |
A |
T |
9: 7,572,177 (GRCm39) |
T126S |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myo5a |
A |
C |
9: 75,120,182 (GRCm39) |
D1635A |
probably benign |
Het |
| Nlrc4 |
A |
T |
17: 74,753,831 (GRCm39) |
M184K |
probably damaging |
Het |
| Or10h28 |
T |
G |
17: 33,488,242 (GRCm39) |
H181Q |
possibly damaging |
Het |
| Or52e15 |
A |
T |
7: 104,645,625 (GRCm39) |
I162K |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,488,051 (GRCm39) |
Q81K |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,185,419 (GRCm39) |
I97K |
probably damaging |
Het |
| Pknox1 |
C |
A |
17: 31,814,290 (GRCm39) |
T205K |
probably benign |
Het |
| Polh |
T |
C |
17: 46,501,655 (GRCm39) |
S179G |
probably benign |
Het |
| Ppp4r4 |
G |
A |
12: 103,562,702 (GRCm39) |
R557Q |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,710,847 (GRCm39) |
D54E |
possibly damaging |
Het |
| Tmc8 |
C |
A |
11: 117,675,639 (GRCm39) |
N185K |
probably benign |
Het |
| Tns1 |
C |
A |
1: 74,118,460 (GRCm39) |
E57* |
probably null |
Het |
| Tyro3 |
G |
A |
2: 119,635,335 (GRCm39) |
A209T |
probably null |
Het |
| Ube2f |
T |
A |
1: 91,204,171 (GRCm39) |
C116S |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,109,992 (GRCm39) |
T308A |
possibly damaging |
Het |
| Wwc2 |
T |
A |
8: 48,353,838 (GRCm39) |
M99L |
probably benign |
Het |
| Zfp516 |
C |
T |
18: 82,975,433 (GRCm39) |
R544C |
probably damaging |
Het |
| Zfp764l1 |
A |
T |
7: 126,991,482 (GRCm39) |
H168Q |
probably damaging |
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 |
|
|
R5492:Ngdn
|
UTSW |
14 |
55,260,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6174:Ngdn
|
UTSW |
14 |
55,259,556 (GRCm39) |
missense |
probably benign |
0.38 |
|
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'- CCGGTCTTTTCCAGTAAATTGGG -3'
(R):5'- CTTTCATGAAGCGCATATAAGGC -3'
Sequencing Primer
(F):5'- AGGAGACTGGCTGTGTGC -3'
(R):5'- GCGCATATAAGGCTTTTATTTTACAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation