Incidental Mutation 'R0088:Ndel1'
| ID |
20018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndel1
|
| Ensembl Gene |
ENSMUSG00000018736 |
| Gene Name |
nudE neurodevelopment protein 1 like 1 |
| Synonyms |
2600006O07Rik, mNudel |
| MMRRC Submission |
038375-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
68712260-68743961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 68724246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 242
(S242R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018880]
[ENSMUST00000101017]
[ENSMUST00000108672]
|
| AlphaFold |
Q9ERR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018880
AA Change: S242R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018880
Gene: ENSMUSG00000018736
AA Change: S242R
| 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 damaging
Transcript: ENSMUST00000101017
AA Change: S242R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098579
Gene: ENSMUSG00000018736
AA Change: S242R
| 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 damaging
Transcript: ENSMUST00000108672
AA Change: S242R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104312
Gene: ENSMUSG00000018736
AA Change: S242R
| 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: ENSMUST00000143899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144300
|
| Meta Mutation Damage Score |
0.1283 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
82% (32/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
| Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
| Bnc1 |
T |
G |
7: 81,628,246 (GRCm39) |
N39T |
possibly damaging |
Het |
| Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,307,741 (GRCm39) |
E5G |
probably damaging |
Het |
| Eqtn |
T |
C |
4: 94,808,227 (GRCm39) |
T192A |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
| Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
| Kif2a |
G |
A |
13: 107,111,940 (GRCm39) |
A478V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,340 (GRCm39) |
S93G |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
| Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
| Pklr |
A |
G |
3: 89,049,215 (GRCm39) |
Y187C |
probably damaging |
Het |
| Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
| Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
| Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
| Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttyh2 |
G |
T |
11: 114,581,081 (GRCm39) |
G107C |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,904,199 (GRCm39) |
D540G |
probably benign |
Het |
|
| Other mutations in Ndel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03236:Ndel1
|
APN |
11 |
68,732,976 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCACTGTAGAGAGGACAGCAATG -3'
(R):5'- CCTTGGAGCAGTTTGGAGAAGTGAC -3'
Sequencing Primer
(F):5'- GTTACATAGGTAACCTTGAAGCCC -3'
(R):5'- AGTGACCACTGATGTAGTCTAATGG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation