Incidental Mutation 'R9737:Ngdn'
| ID |
731707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngdn
|
| Ensembl Gene |
ENSMUSG00000022204 |
| Gene Name |
neuroguidin, EIF4E binding protein |
| Synonyms |
1500001L15Rik, Ngd, neuroguidin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55252911-55261594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55259339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 161
(K161R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022815]
|
| AlphaFold |
Q9DB96 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022815
AA Change: K161R
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022815
Gene: ENSMUSG00000022204
AA Change: K161R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,026,918 (GRCm39) |
K126E |
possibly damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccnjl |
C |
A |
11: 43,476,166 (GRCm39) |
T263K |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,708,872 (GRCm39) |
I12N |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Epha2 |
A |
G |
4: 141,045,814 (GRCm39) |
E446G |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,408,794 (GRCm39) |
Y702H |
probably damaging |
Het |
| Igkv10-96 |
T |
C |
6: 68,608,957 (GRCm39) |
T113A |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,808,748 (GRCm39) |
E671G |
probably damaging |
Het |
| Pabpc4l |
A |
G |
3: 46,401,267 (GRCm39) |
S126P |
probably damaging |
Het |
| Phlpp2 |
G |
A |
8: 110,663,714 (GRCm39) |
D918N |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,651,349 (GRCm39) |
H899L |
possibly damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,481,282 (GRCm39) |
S301P |
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,243 (GRCm39) |
Y306H |
probably damaging |
Het |
| Trav13-1 |
A |
T |
14: 53,782,510 (GRCm39) |
T14S |
probably benign |
Het |
| Vmn2r99 |
A |
C |
17: 19,582,563 (GRCm39) |
E56A |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,741,813 (GRCm39) |
M373V |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,142,136 (GRCm39) |
H11R |
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 |
|
|
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 |
|
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 |
|
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'- TCCGCCAGAAATTAGCCCTG -3'
(R):5'- GCCTCAGTCTCATCTGTGTG -3'
Sequencing Primer
(F):5'- TGGCTGGAAATGCTTCACC -3'
(R):5'- CTGTGTGATGAAAATCCACGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation