Incidental Mutation 'IGL02557:Neurl4'
ID |
298346 |
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 # |
IGL02557
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
69792545-69804648 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69797161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 583
(I583F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053235
(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: I583F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053235 Gene: ENSMUSG00000047284 AA Change: I583F
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: I561F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104257 Gene: ENSMUSG00000047284 AA Change: I561F
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: I326F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117917 Gene: ENSMUSG00000047284 AA Change: I326F
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 |
noncoding transcript
Transcript: ENSMUST00000153041
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177476
AA Change: I583F
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135185 Gene: ENSMUSG00000047284 AA Change: I583F
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: I561F
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000135277 Gene: ENSMUSG00000047284 AA Change: I561F
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: ENSMUST00000177160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176614
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175742
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175761
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
C |
T |
1: 130,670,444 (GRCm39) |
P222L |
probably benign |
Het |
Alg12 |
T |
A |
15: 88,700,410 (GRCm39) |
K9* |
probably null |
Het |
Arhgap20 |
T |
C |
9: 51,732,573 (GRCm39) |
V119A |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,857,472 (GRCm39) |
Y178H |
probably damaging |
Het |
Atad2 |
A |
T |
15: 57,985,993 (GRCm39) |
S243T |
probably benign |
Het |
Atp13a5 |
A |
C |
16: 29,066,934 (GRCm39) |
F1013V |
probably benign |
Het |
Atp1a2 |
T |
G |
1: 172,106,218 (GRCm39) |
T865P |
possibly damaging |
Het |
Bcas2 |
T |
C |
3: 103,079,183 (GRCm39) |
|
probably benign |
Het |
Ccnk |
T |
C |
12: 108,161,985 (GRCm39) |
S297P |
unknown |
Het |
Cdk5 |
A |
T |
5: 24,624,651 (GRCm39) |
S215T |
probably benign |
Het |
Ciita |
T |
A |
16: 10,329,879 (GRCm39) |
L798Q |
probably damaging |
Het |
Clcn2 |
A |
G |
16: 20,527,214 (GRCm39) |
S584P |
probably damaging |
Het |
Cntn6 |
A |
G |
6: 104,751,496 (GRCm39) |
Y384C |
probably damaging |
Het |
Cyp2b10 |
T |
A |
7: 25,614,306 (GRCm39) |
V260D |
probably benign |
Het |
Dsel |
A |
T |
1: 111,790,300 (GRCm39) |
H78Q |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,908,745 (GRCm39) |
|
probably benign |
Het |
Fcgr2b |
C |
A |
1: 170,790,891 (GRCm39) |
|
probably null |
Het |
Fryl |
A |
T |
5: 73,255,736 (GRCm39) |
L765Q |
probably damaging |
Het |
Gas2 |
T |
A |
7: 51,537,681 (GRCm39) |
M2K |
probably damaging |
Het |
Gm13941 |
T |
C |
2: 110,931,501 (GRCm39) |
K44E |
unknown |
Het |
Gm42878 |
A |
G |
5: 121,665,194 (GRCm39) |
S205P |
possibly damaging |
Het |
Hcn3 |
A |
T |
3: 89,057,178 (GRCm39) |
S473R |
probably damaging |
Het |
Hnrnpr |
A |
G |
4: 136,046,817 (GRCm39) |
E65G |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,757,392 (GRCm39) |
V375E |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,832,725 (GRCm39) |
C1642* |
probably null |
Het |
Lsr |
T |
G |
7: 30,657,919 (GRCm39) |
E347A |
possibly damaging |
Het |
Mapre2 |
C |
A |
18: 23,966,014 (GRCm39) |
T33K |
probably damaging |
Het |
Myo3b |
T |
A |
2: 70,085,663 (GRCm39) |
F772I |
probably benign |
Het |
Myorg |
C |
T |
4: 41,497,900 (GRCm39) |
V577M |
possibly damaging |
Het |
Nbas |
T |
C |
12: 13,411,029 (GRCm39) |
V891A |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,460,261 (GRCm39) |
S2163P |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,031,537 (GRCm39) |
Y288H |
probably damaging |
Het |
Or10ak8 |
T |
C |
4: 118,774,389 (GRCm39) |
T92A |
probably benign |
Het |
Or4c107 |
A |
G |
2: 88,789,025 (GRCm39) |
I72V |
probably benign |
Het |
Pak1 |
A |
G |
7: 97,520,794 (GRCm39) |
E151G |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,906,081 (GRCm39) |
N588D |
probably damaging |
Het |
Prom2 |
T |
C |
2: 127,371,391 (GRCm39) |
T756A |
possibly damaging |
Het |
Ptgfrn |
C |
T |
3: 100,967,952 (GRCm39) |
|
probably null |
Het |
Seh1l |
T |
C |
18: 67,922,483 (GRCm39) |
S279P |
probably benign |
Het |
Sema3f |
A |
T |
9: 107,564,411 (GRCm39) |
M35K |
probably damaging |
Het |
Spesp1 |
T |
C |
9: 62,180,416 (GRCm39) |
E164G |
possibly damaging |
Het |
Sprr3 |
T |
C |
3: 92,364,473 (GRCm39) |
T124A |
possibly damaging |
Het |
Trim24 |
A |
C |
6: 37,942,434 (GRCm39) |
|
probably null |
Het |
Unc79 |
A |
G |
12: 103,148,418 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,444,342 (GRCm39) |
|
probably benign |
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 |
IGL01409:Neurl4
|
APN |
11 |
69,797,925 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |