Incidental Mutation 'ANU18:Ngdn'
ID |
262555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ngdn
|
Ensembl Gene |
ENSMUSG00000022204 |
Gene Name |
neuroguidin, EIF4E binding protein |
Synonyms |
1500001L15Rik, Ngd, neuroguidin |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
ANU18
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55252911-55261594 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 55254571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 41
(A41S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022815]
|
AlphaFold |
Q9DB96 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022815
AA Change: A41S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022815 Gene: ENSMUSG00000022204 AA Change: A41S
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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
C |
T |
17: 15,164,181 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
T |
5: 114,384,559 (GRCm39) |
I2238L |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,358,710 (GRCm39) |
Y95C |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,551,425 (GRCm39) |
T1056A |
probably damaging |
Het |
B4galnt1 |
A |
G |
10: 127,005,648 (GRCm39) |
T250A |
possibly damaging |
Het |
Cela3b |
A |
T |
4: 137,151,154 (GRCm39) |
|
probably null |
Het |
Chst3 |
T |
C |
10: 60,021,654 (GRCm39) |
T398A |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,425,625 (GRCm39) |
T478A |
probably damaging |
Het |
Cyp4a10 |
T |
C |
4: 115,375,652 (GRCm39) |
L45P |
probably damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,059,568 (GRCm39) |
S111P |
probably benign |
Het |
Defb21 |
A |
G |
2: 152,416,671 (GRCm39) |
E49G |
possibly damaging |
Het |
Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
Dnmbp |
A |
G |
19: 43,890,793 (GRCm39) |
S325P |
probably benign |
Het |
Fam91a1 |
T |
C |
15: 58,314,720 (GRCm39) |
F534L |
probably damaging |
Het |
Fermt2 |
T |
C |
14: 45,702,320 (GRCm39) |
E488G |
probably damaging |
Het |
Filip1 |
T |
C |
9: 79,726,462 (GRCm39) |
D719G |
possibly damaging |
Het |
Gad1-ps |
A |
G |
10: 99,281,013 (GRCm39) |
|
noncoding transcript |
Het |
Glra3 |
C |
A |
8: 56,393,997 (GRCm39) |
A36E |
probably benign |
Het |
Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
Lct |
T |
A |
1: 128,235,784 (GRCm39) |
R408* |
probably null |
Het |
Lrrk2 |
T |
A |
15: 91,651,542 (GRCm39) |
Y1733N |
probably damaging |
Het |
Mindy1 |
T |
C |
3: 95,195,701 (GRCm39) |
L148P |
probably damaging |
Het |
Mkrn2 |
C |
A |
6: 115,588,750 (GRCm39) |
Y164* |
probably null |
Het |
Msra |
T |
C |
14: 64,447,884 (GRCm39) |
Y135C |
probably damaging |
Het |
Ndst3 |
C |
T |
3: 123,342,565 (GRCm39) |
A749T |
probably damaging |
Het |
Nlrp12 |
A |
T |
7: 3,288,722 (GRCm39) |
S597T |
probably damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
Pabpc6 |
A |
G |
17: 9,886,899 (GRCm39) |
S551P |
probably benign |
Het |
Plekhg5 |
C |
T |
4: 152,197,010 (GRCm39) |
A752V |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,068,274 (GRCm39) |
S368P |
probably benign |
Het |
Pus7 |
A |
G |
5: 23,951,422 (GRCm39) |
|
probably null |
Het |
Rab40b |
C |
G |
11: 121,248,788 (GRCm39) |
V156L |
probably benign |
Het |
Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
probably benign |
Het |
Tmem26 |
A |
T |
10: 68,614,436 (GRCm39) |
N284Y |
probably damaging |
Het |
Tmem87a |
T |
C |
2: 120,211,250 (GRCm39) |
I232V |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,759,818 (GRCm39) |
L1106P |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,032,786 (GRCm39) |
Y541H |
probably damaging |
Het |
Zfp213 |
G |
T |
17: 23,780,391 (GRCm39) |
A43D |
probably benign |
Het |
Zfp365 |
A |
G |
10: 67,745,184 (GRCm39) |
V198A |
probably damaging |
Het |
Zfp618 |
G |
A |
4: 63,051,063 (GRCm39) |
V615M |
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 |
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 |
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'- GTGGTGTTCAGCAACAGCGTTTC -3'
(R):5'- TGGTCTGCAATTCTTGCCAGACTC -3'
Sequencing Primer
(F):5'- CAGCGTTTCAGATCATTTTTTAGGC -3'
(R):5'- AGGAGGTCCTCCCTCTTCAAG -3'
|
Posted On |
2015-02-04 |