Incidental Mutation 'IGL01409:Neurl4'
ID |
79918 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Neurl4
|
Ensembl Gene |
ENSMUSG00000047284 |
Gene Name |
neuralized E3 ubiquitin protein ligase 4 |
Synonyms |
0610025P10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01409
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
69792545-69804648 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 69797925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 728
(N728K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061837]
[ENSMUST00000108617]
[ENSMUST00000129475]
[ENSMUST00000133203]
[ENSMUST00000177476]
[ENSMUST00000177138]
|
AlphaFold |
Q5NCX5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061837
AA Change: N728K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053235 Gene: ENSMUSG00000047284 AA Change: N728K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
NEUZ
|
317 |
442 |
7.22e-52 |
SMART |
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
NEUZ
|
520 |
644 |
6.15e-46 |
SMART |
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
NEUZ
|
716 |
840 |
7.81e-39 |
SMART |
NEUZ
|
913 |
1043 |
2.27e-17 |
SMART |
low complexity region
|
1108 |
1117 |
N/A |
INTRINSIC |
NEUZ
|
1130 |
1250 |
4.93e-6 |
SMART |
low complexity region
|
1453 |
1464 |
N/A |
INTRINSIC |
low complexity region
|
1474 |
1483 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108617
AA Change: N706K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104257 Gene: ENSMUSG00000047284 AA Change: N706K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
NEUZ
|
47 |
165 |
3.5e-31 |
SMART |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
NEUZ
|
295 |
420 |
2.5e-54 |
SMART |
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
NEUZ
|
498 |
622 |
2e-48 |
SMART |
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
NEUZ
|
694 |
818 |
2.6e-41 |
SMART |
NEUZ
|
891 |
1021 |
7.6e-20 |
SMART |
low complexity region
|
1086 |
1095 |
N/A |
INTRINSIC |
NEUZ
|
1108 |
1228 |
1.7e-8 |
SMART |
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
low complexity region
|
1452 |
1461 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129475
|
SMART Domains |
Protein: ENSMUSP00000135733 Gene: ENSMUSG00000047284
Domain | Start | End | E-Value | Type |
NEUZ
|
1 |
119 |
4.22e-44 |
SMART |
low complexity region
|
169 |
180 |
N/A |
INTRINSIC |
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
internal_repeat_1
|
206 |
246 |
1.46e-10 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132183
|
SMART Domains |
Protein: ENSMUSP00000118868 Gene: ENSMUSG00000047284
Domain | Start | End | E-Value | Type |
low complexity region
|
161 |
172 |
N/A |
INTRINSIC |
low complexity region
|
182 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133203
AA Change: N471K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117917 Gene: ENSMUSG00000047284 AA Change: N471K
Domain | Start | End | E-Value | Type |
NEUZ
|
60 |
185 |
7.22e-52 |
SMART |
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
NEUZ
|
263 |
387 |
6.15e-46 |
SMART |
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
NEUZ
|
459 |
583 |
7.81e-39 |
SMART |
NEUZ
|
656 |
786 |
2.27e-17 |
SMART |
low complexity region
|
851 |
860 |
N/A |
INTRINSIC |
Pfam:Neuralized
|
875 |
942 |
6.5e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143861
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177476
AA Change: N728K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135185 Gene: ENSMUSG00000047284 AA Change: N728K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
NEUZ
|
317 |
442 |
7.22e-52 |
SMART |
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
NEUZ
|
520 |
644 |
6.15e-46 |
SMART |
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
NEUZ
|
716 |
840 |
7.81e-39 |
SMART |
NEUZ
|
911 |
1041 |
2.27e-17 |
SMART |
low complexity region
|
1106 |
1115 |
N/A |
INTRINSIC |
NEUZ
|
1128 |
1248 |
4.93e-6 |
SMART |
low complexity region
|
1451 |
1462 |
N/A |
INTRINSIC |
low complexity region
|
1472 |
1481 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177138
AA Change: N706K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135277 Gene: ENSMUSG00000047284 AA Change: N706K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
NEUZ
|
295 |
420 |
7.22e-52 |
SMART |
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
NEUZ
|
498 |
622 |
6.15e-46 |
SMART |
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
NEUZ
|
694 |
818 |
7.81e-39 |
SMART |
NEUZ
|
889 |
1019 |
2.27e-17 |
SMART |
low complexity region
|
1084 |
1093 |
N/A |
INTRINSIC |
NEUZ
|
1106 |
1226 |
4.93e-6 |
SMART |
low complexity region
|
1429 |
1440 |
N/A |
INTRINSIC |
low complexity region
|
1450 |
1459 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175742
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153041
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176614
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
C |
T |
10: 85,494,029 (GRCm39) |
A1049V |
possibly damaging |
Het |
Arhgap26 |
C |
T |
18: 39,243,504 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
T |
C |
2: 153,234,860 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
T |
9: 53,410,471 (GRCm39) |
V1037E |
probably benign |
Het |
Bmp6 |
A |
G |
13: 38,669,865 (GRCm39) |
N383S |
probably damaging |
Het |
Btf3l4 |
A |
C |
4: 108,676,394 (GRCm39) |
S103R |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,587,440 (GRCm39) |
D321G |
probably damaging |
Het |
Col24a1 |
G |
A |
3: 145,244,319 (GRCm39) |
S1531N |
probably benign |
Het |
Cpb1 |
T |
A |
3: 20,303,969 (GRCm39) |
Y365F |
possibly damaging |
Het |
Dpp6 |
T |
C |
5: 27,762,599 (GRCm39) |
Y238H |
probably damaging |
Het |
Epha6 |
G |
A |
16: 59,476,100 (GRCm39) |
R1089* |
probably null |
Het |
Fga |
T |
C |
3: 82,940,059 (GRCm39) |
F571S |
probably damaging |
Het |
Focad |
A |
G |
4: 88,260,542 (GRCm39) |
T933A |
unknown |
Het |
Gm57858 |
T |
A |
3: 36,080,077 (GRCm39) |
M227L |
possibly damaging |
Het |
Gria2 |
A |
G |
3: 80,615,004 (GRCm39) |
|
probably null |
Het |
Hnrnpul1 |
T |
C |
7: 25,424,077 (GRCm39) |
N725S |
unknown |
Het |
Ik |
A |
T |
18: 36,889,974 (GRCm39) |
K534N |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,196,525 (GRCm39) |
T631A |
probably benign |
Het |
Kcnip1 |
G |
T |
11: 33,580,593 (GRCm39) |
D214E |
probably benign |
Het |
Kcnk10 |
A |
T |
12: 98,456,322 (GRCm39) |
Y170N |
probably damaging |
Het |
Lalba |
A |
G |
15: 98,379,948 (GRCm39) |
|
probably null |
Het |
Ly75 |
A |
T |
2: 60,152,036 (GRCm39) |
|
probably null |
Het |
Myh10 |
T |
C |
11: 68,698,045 (GRCm39) |
L1629P |
probably damaging |
Het |
Myo15b |
C |
A |
11: 115,760,330 (GRCm39) |
C1127* |
probably null |
Het |
Nrxn3 |
T |
A |
12: 89,477,128 (GRCm39) |
F801Y |
probably damaging |
Het |
Nup214 |
G |
T |
2: 31,916,943 (GRCm39) |
|
probably null |
Het |
Obscn |
G |
A |
11: 58,921,884 (GRCm39) |
R6624C |
probably damaging |
Het |
Or2g1 |
T |
C |
17: 38,106,413 (GRCm39) |
F26S |
probably damaging |
Het |
Pdk1 |
A |
G |
2: 71,726,123 (GRCm39) |
T344A |
probably benign |
Het |
Pitx2 |
C |
A |
3: 129,008,413 (GRCm39) |
S63Y |
probably damaging |
Het |
Ppara |
A |
C |
15: 85,661,844 (GRCm39) |
L28F |
probably damaging |
Het |
Rad54l |
G |
A |
4: 115,963,074 (GRCm39) |
T308I |
probably damaging |
Het |
Sbds |
T |
C |
5: 130,282,907 (GRCm39) |
E7G |
probably damaging |
Het |
Slc22a19 |
T |
C |
19: 7,688,495 (GRCm39) |
I22V |
probably benign |
Het |
Slfn10-ps |
T |
C |
11: 82,926,322 (GRCm39) |
|
noncoding transcript |
Het |
Spag4 |
T |
C |
2: 155,911,252 (GRCm39) |
S396P |
possibly damaging |
Het |
Spef2 |
C |
A |
15: 9,716,499 (GRCm39) |
L362F |
probably damaging |
Het |
Srebf2 |
A |
G |
15: 82,055,419 (GRCm39) |
T208A |
probably damaging |
Het |
Ssc5d |
A |
G |
7: 4,945,808 (GRCm39) |
T947A |
probably benign |
Het |
Tdp1 |
T |
C |
12: 99,875,940 (GRCm39) |
I297T |
possibly damaging |
Het |
Tent5c |
A |
T |
3: 100,380,485 (GRCm39) |
D90E |
probably damaging |
Het |
Tsen2 |
T |
C |
6: 115,536,555 (GRCm39) |
Y104H |
possibly damaging |
Het |
Was |
G |
A |
X: 7,954,055 (GRCm39) |
R229C |
probably damaging |
Het |
|
Other mutations in Neurl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:Neurl4
|
APN |
11 |
69,795,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00516:Neurl4
|
APN |
11 |
69,801,219 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01951:Neurl4
|
APN |
11 |
69,800,449 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02056:Neurl4
|
APN |
11 |
69,796,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02206:Neurl4
|
APN |
11 |
69,801,166 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02557:Neurl4
|
APN |
11 |
69,797,161 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02878:Neurl4
|
APN |
11 |
69,797,657 (GRCm39) |
missense |
probably damaging |
1.00 |
P0022:Neurl4
|
UTSW |
11 |
69,799,891 (GRCm39) |
missense |
possibly damaging |
0.86 |
PIT4377001:Neurl4
|
UTSW |
11 |
69,801,232 (GRCm39) |
missense |
probably benign |
0.41 |
R0388:Neurl4
|
UTSW |
11 |
69,802,559 (GRCm39) |
splice site |
probably benign |
|
R0421:Neurl4
|
UTSW |
11 |
69,799,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R0449:Neurl4
|
UTSW |
11 |
69,796,393 (GRCm39) |
missense |
probably damaging |
0.99 |
R1174:Neurl4
|
UTSW |
11 |
69,794,547 (GRCm39) |
critical splice donor site |
probably null |
|
R1345:Neurl4
|
UTSW |
11 |
69,794,702 (GRCm39) |
missense |
probably benign |
0.21 |
R1536:Neurl4
|
UTSW |
11 |
69,794,252 (GRCm39) |
nonsense |
probably null |
|
R1642:Neurl4
|
UTSW |
11 |
69,794,485 (GRCm39) |
missense |
probably benign |
0.03 |
R1857:Neurl4
|
UTSW |
11 |
69,796,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1935:Neurl4
|
UTSW |
11 |
69,797,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R1936:Neurl4
|
UTSW |
11 |
69,797,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R1967:Neurl4
|
UTSW |
11 |
69,794,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1973:Neurl4
|
UTSW |
11 |
69,800,118 (GRCm39) |
missense |
probably benign |
|
R2046:Neurl4
|
UTSW |
11 |
69,799,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R2165:Neurl4
|
UTSW |
11 |
69,794,047 (GRCm39) |
missense |
probably benign |
|
R2393:Neurl4
|
UTSW |
11 |
69,797,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R3810:Neurl4
|
UTSW |
11 |
69,794,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4299:Neurl4
|
UTSW |
11 |
69,799,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Neurl4
|
UTSW |
11 |
69,801,894 (GRCm39) |
missense |
probably benign |
0.00 |
R4898:Neurl4
|
UTSW |
11 |
69,793,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R4968:Neurl4
|
UTSW |
11 |
69,798,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R4969:Neurl4
|
UTSW |
11 |
69,801,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R5503:Neurl4
|
UTSW |
11 |
69,797,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R6655:Neurl4
|
UTSW |
11 |
69,801,742 (GRCm39) |
critical splice donor site |
probably null |
|
R6791:Neurl4
|
UTSW |
11 |
69,799,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7029:Neurl4
|
UTSW |
11 |
69,801,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R7216:Neurl4
|
UTSW |
11 |
69,801,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R7361:Neurl4
|
UTSW |
11 |
69,802,905 (GRCm39) |
missense |
probably benign |
0.01 |
R7367:Neurl4
|
UTSW |
11 |
69,799,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R7804:Neurl4
|
UTSW |
11 |
69,796,700 (GRCm39) |
missense |
probably benign |
0.00 |
R7871:Neurl4
|
UTSW |
11 |
69,794,012 (GRCm39) |
missense |
probably benign |
|
R8092:Neurl4
|
UTSW |
11 |
69,801,891 (GRCm39) |
missense |
probably benign |
|
R8121:Neurl4
|
UTSW |
11 |
69,799,056 (GRCm39) |
splice site |
probably null |
|
R8131:Neurl4
|
UTSW |
11 |
69,800,067 (GRCm39) |
missense |
probably benign |
0.12 |
R8289:Neurl4
|
UTSW |
11 |
69,800,206 (GRCm39) |
critical splice donor site |
probably null |
|
R8354:Neurl4
|
UTSW |
11 |
69,800,062 (GRCm39) |
missense |
probably damaging |
0.97 |
R8494:Neurl4
|
UTSW |
11 |
69,801,871 (GRCm39) |
missense |
probably benign |
0.02 |
R8529:Neurl4
|
UTSW |
11 |
69,799,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R8850:Neurl4
|
UTSW |
11 |
69,794,788 (GRCm39) |
unclassified |
probably benign |
|
R8992:Neurl4
|
UTSW |
11 |
69,798,958 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9334:Neurl4
|
UTSW |
11 |
69,796,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Neurl4
|
UTSW |
11 |
69,792,971 (GRCm39) |
nonsense |
probably null |
|
R9705:Neurl4
|
UTSW |
11 |
69,799,679 (GRCm39) |
missense |
probably damaging |
0.97 |
R9707:Neurl4
|
UTSW |
11 |
69,799,679 (GRCm39) |
missense |
probably damaging |
0.97 |
R9746:Neurl4
|
UTSW |
11 |
69,798,301 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Neurl4
|
UTSW |
11 |
69,797,627 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Neurl4
|
UTSW |
11 |
69,794,916 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Posted On |
2013-11-05 |