Incidental Mutation 'R6678:Ndel1'
| ID |
527353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndel1
|
| Ensembl Gene |
ENSMUSG00000018736 |
| Gene Name |
nudE neurodevelopment protein 1 like 1 |
| Synonyms |
2600006O07Rik, mNudel |
| MMRRC Submission |
044797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68712260-68743961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68724239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 245
(T245A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018880]
[ENSMUST00000101017]
[ENSMUST00000108672]
|
| AlphaFold |
Q9ERR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018880
AA Change: T245A
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018880
Gene: ENSMUSG00000018736
AA Change: T245A
| 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 |
possibly damaging
Transcript: ENSMUST00000101017
AA Change: T245A
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098579
Gene: ENSMUSG00000018736
AA Change: T245A
| 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 |
possibly damaging
Transcript: ENSMUST00000108672
AA Change: T245A
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104312
Gene: ENSMUSG00000018736
AA Change: T245A
| 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 |
0.2118 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,499,891 (GRCm39) |
N644S |
possibly damaging |
Het |
| Agl |
C |
A |
3: 116,546,969 (GRCm39) |
V1294F |
probably damaging |
Het |
| Ash2l |
A |
C |
8: 26,323,805 (GRCm39) |
W125G |
probably damaging |
Het |
| Dap |
C |
T |
15: 31,273,396 (GRCm39) |
T51M |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,456,847 (GRCm39) |
R871H |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,390,333 (GRCm39) |
I307T |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,280,574 (GRCm39) |
S37T |
probably benign |
Het |
| Gm43302 |
G |
T |
5: 105,438,820 (GRCm39) |
Q23K |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,189,072 (GRCm39) |
V227A |
probably damaging |
Het |
| Gramd4 |
A |
T |
15: 85,975,704 (GRCm39) |
S74C |
probably damaging |
Het |
| Gramd4 |
G |
C |
15: 85,975,705 (GRCm39) |
S74T |
possibly damaging |
Het |
| Hsph1 |
A |
C |
5: 149,541,962 (GRCm39) |
S755A |
probably benign |
Het |
| Inppl1 |
A |
G |
7: 101,481,477 (GRCm39) |
V235A |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,229 (GRCm39) |
H43R |
probably benign |
Het |
| Klhl41 |
T |
G |
2: 69,501,188 (GRCm39) |
S216R |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,704,293 (GRCm39) |
E1162G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,161,222 (GRCm39) |
I106V |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,794,819 (GRCm39) |
D20N |
probably damaging |
Het |
| Or5al1 |
A |
T |
2: 85,990,529 (GRCm39) |
F62I |
probably damaging |
Het |
| P2rx6 |
C |
A |
16: 17,388,820 (GRCm39) |
N360K |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,935 (GRCm39) |
K92R |
probably benign |
Het |
| Prelp |
C |
T |
1: 133,842,513 (GRCm39) |
D211N |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,400,475 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
G |
T |
13: 38,083,675 (GRCm39) |
D113Y |
probably damaging |
Het |
| Sf1 |
T |
A |
19: 6,424,543 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
C |
15: 78,792,714 (GRCm39) |
|
probably null |
Het |
| Shprh |
T |
A |
10: 11,042,289 (GRCm39) |
D757E |
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,284,737 (GRCm39) |
K81R |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,855,946 (GRCm39) |
K528R |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,480,242 (GRCm39) |
S165R |
probably benign |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,238,776 (GRCm39) |
A288D |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,671,105 (GRCm39) |
I449V |
probably benign |
Het |
| Wdsub1 |
G |
A |
2: 59,692,975 (GRCm39) |
T313I |
probably benign |
Het |
| Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
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 |
|
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 |
|
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'- ACATAGGTAACCTTGAAGCCCAG -3'
(R):5'- CAGTTTGGAGAAGTGACCACTG -3'
Sequencing Primer
(F):5'- CCAGGCTGGGGGTTTTCTCAG -3'
(R):5'- AGTGACCACTGATGTAGTCTAATGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation