Incidental Mutation 'IGL03236:Ndel1'
ID |
414052 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ndel1
|
Ensembl Gene |
ENSMUSG00000018736 |
Gene Name |
nudE neurodevelopment protein 1 like 1 |
Synonyms |
2600006O07Rik, mNudel |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03236
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
68712260-68743961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68732976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 87
(Y87H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018880]
[ENSMUST00000101017]
[ENSMUST00000108672]
|
AlphaFold |
Q9ERR1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018880
AA Change: Y87H
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000018880 Gene: ENSMUSG00000018736 AA Change: Y87H
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
Pfam:NUDE_C
|
135 |
309 |
6.6e-49 |
PFAM |
low complexity region
|
322 |
339 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101017
AA Change: Y87H
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000098579 Gene: ENSMUSG00000018736 AA Change: Y87H
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
Pfam:NUDE_C
|
135 |
315 |
9.3e-72 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108672
AA Change: Y87H
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000104312 Gene: ENSMUSG00000018736 AA Change: Y87H
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
Pfam:NUDE_C
|
135 |
315 |
9.3e-72 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127469
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144300
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012] PHENOTYPE: Homozygous inactivation of this gene causes peri-implantation lethality. Blastocysts fail to grow in culture and exhibit inner cell mass degeneration. Compound heterozygous mice carrying one null and one hypomorphic allele show mild neuronal migration defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
G |
4: 144,246,486 (GRCm39) |
T11A |
probably benign |
Het |
Abca17 |
A |
G |
17: 24,545,450 (GRCm39) |
|
probably benign |
Het |
Aox1 |
G |
T |
1: 58,349,156 (GRCm39) |
E641* |
probably null |
Het |
Arhgef10l |
G |
T |
4: 140,338,671 (GRCm39) |
D30E |
probably damaging |
Het |
Arhgef37 |
A |
T |
18: 61,656,897 (GRCm39) |
I56N |
probably damaging |
Het |
Cwf19l1 |
T |
C |
19: 44,115,887 (GRCm39) |
I181V |
probably benign |
Het |
Dnai2 |
A |
G |
11: 114,648,075 (GRCm39) |
|
probably benign |
Het |
Elp2 |
A |
G |
18: 24,755,300 (GRCm39) |
|
probably benign |
Het |
Epb41l4a |
G |
A |
18: 33,943,272 (GRCm39) |
S541L |
probably damaging |
Het |
Ibsp |
A |
C |
5: 104,453,871 (GRCm39) |
N70H |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,657,848 (GRCm39) |
E35G |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,415,949 (GRCm39) |
V1623A |
probably damaging |
Het |
Kpna7 |
A |
T |
5: 144,922,504 (GRCm39) |
V499E |
unknown |
Het |
Krtap4-16 |
C |
A |
11: 99,741,962 (GRCm39) |
R146L |
unknown |
Het |
Map2k5 |
T |
A |
9: 63,193,674 (GRCm39) |
|
probably benign |
Het |
Mfn2 |
A |
G |
4: 147,966,562 (GRCm39) |
F543S |
probably damaging |
Het |
Mical3 |
A |
G |
6: 120,946,345 (GRCm39) |
L1052P |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,536,134 (GRCm39) |
N272S |
probably damaging |
Het |
Ndnf |
G |
A |
6: 65,673,156 (GRCm39) |
V45M |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,619,444 (GRCm39) |
I281T |
probably benign |
Het |
Ntm |
A |
G |
9: 29,020,802 (GRCm39) |
V139A |
probably benign |
Het |
Or5ac23 |
A |
C |
16: 59,149,200 (GRCm39) |
V224G |
probably damaging |
Het |
Pkhd1l1 |
T |
G |
15: 44,445,222 (GRCm39) |
V3698G |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,188,226 (GRCm39) |
Y773C |
probably damaging |
Het |
Prkaca |
T |
A |
8: 84,717,074 (GRCm39) |
F138Y |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,616,877 (GRCm39) |
T1312A |
probably benign |
Het |
Slc47a2 |
T |
C |
11: 61,204,505 (GRCm39) |
E282G |
probably damaging |
Het |
Smchd1 |
G |
A |
17: 71,698,425 (GRCm39) |
T1117I |
possibly damaging |
Het |
Utp6 |
A |
G |
11: 79,851,567 (GRCm39) |
|
probably benign |
Het |
Vmn1r66 |
T |
A |
7: 10,008,990 (GRCm39) |
K14N |
probably damaging |
Het |
Vmn1r71 |
A |
T |
7: 10,482,211 (GRCm39) |
V93E |
probably benign |
Het |
Zfp768 |
G |
A |
7: 126,943,142 (GRCm39) |
L329F |
possibly damaging |
Het |
|
Other mutations in Ndel1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4342:Ndel1
|
UTSW |
11 |
68,724,235 (GRCm39) |
missense |
probably damaging |
0.97 |
R0025:Ndel1
|
UTSW |
11 |
68,726,999 (GRCm39) |
missense |
probably damaging |
0.97 |
R0088:Ndel1
|
UTSW |
11 |
68,724,246 (GRCm39) |
missense |
probably damaging |
0.98 |
R1510:Ndel1
|
UTSW |
11 |
68,713,482 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1944:Ndel1
|
UTSW |
11 |
68,720,746 (GRCm39) |
missense |
probably benign |
|
R4710:Ndel1
|
UTSW |
11 |
68,736,163 (GRCm39) |
missense |
probably damaging |
0.99 |
R5940:Ndel1
|
UTSW |
11 |
68,713,397 (GRCm39) |
utr 3 prime |
probably benign |
|
R6293:Ndel1
|
UTSW |
11 |
68,727,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R6678:Ndel1
|
UTSW |
11 |
68,724,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7043:Ndel1
|
UTSW |
11 |
68,713,450 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7107:Ndel1
|
UTSW |
11 |
68,713,474 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7840:Ndel1
|
UTSW |
11 |
68,720,806 (GRCm39) |
nonsense |
probably null |
|
R8866:Ndel1
|
UTSW |
11 |
68,734,645 (GRCm39) |
critical splice donor site |
probably null |
|
X0013:Ndel1
|
UTSW |
11 |
68,730,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |