Incidental Mutation 'IGL00339:Neurl4'
ID |
6049 |
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 # |
IGL00339
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
69792545-69804648 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 69795413 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 422
(R422W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018714]
[ENSMUST00000061837]
[ENSMUST00000100969]
[ENSMUST00000102580]
[ENSMUST00000108617]
[ENSMUST00000108621]
[ENSMUST00000128046]
[ENSMUST00000133203]
[ENSMUST00000177138]
[ENSMUST00000177476]
[ENSMUST00000129475]
[ENSMUST00000129234]
[ENSMUST00000144431]
|
AlphaFold |
Q5NCX5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018714
|
SMART Domains |
Protein: ENSMUSP00000018714 Gene: ENSMUSG00000018570
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
Pfam:IPP-2
|
150 |
277 |
1.3e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061837
AA Change: R422W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053235 Gene: ENSMUSG00000047284 AA Change: R422W
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 benign
Transcript: ENSMUST00000100969
|
SMART Domains |
Protein: ENSMUSP00000098529 Gene: ENSMUSG00000018570
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
Pfam:IPP-2
|
150 |
272 |
5.7e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102580
|
SMART Domains |
Protein: ENSMUSP00000099640 Gene: ENSMUSG00000018570
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
Pfam:IPP-2
|
153 |
270 |
6.2e-31 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108617
AA Change: R400W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104257 Gene: ENSMUSG00000047284 AA Change: R400W
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: ENSMUST00000108621
|
SMART Domains |
Protein: ENSMUSP00000104261 Gene: ENSMUSG00000018570
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
Pfam:IPP-2
|
150 |
277 |
1.3e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128046
|
SMART Domains |
Protein: ENSMUSP00000137547 Gene: ENSMUSG00000018570
Domain | Start | End | E-Value | Type |
Pfam:IPP-2
|
1 |
77 |
1.7e-26 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133203
AA Change: R165W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117917 Gene: ENSMUSG00000047284 AA Change: R165W
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 |
probably damaging
Transcript: ENSMUST00000177138
AA Change: R400W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135277 Gene: ENSMUSG00000047284 AA Change: R400W
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 |
probably damaging
Transcript: ENSMUST00000177476
AA Change: R422W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135185 Gene: ENSMUSG00000047284 AA Change: R422W
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: ENSMUST00000129475
AA Change: R99W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135733 Gene: ENSMUSG00000047284 AA Change: R99W
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 |
noncoding transcript
Transcript: ENSMUST00000175761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175742
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143861
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153041
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176614
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137122
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142121
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129234
|
SMART Domains |
Protein: ENSMUSP00000136835 Gene: ENSMUSG00000018570
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144431
|
SMART Domains |
Protein: ENSMUSP00000135926 Gene: ENSMUSG00000018570
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
Axin2 |
A |
G |
11: 108,814,816 (GRCm39) |
T235A |
probably benign |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Brd8 |
C |
A |
18: 34,742,936 (GRCm39) |
G310* |
probably null |
Het |
Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
Caskin2 |
A |
G |
11: 115,694,425 (GRCm39) |
L392P |
probably benign |
Het |
Cep72 |
C |
T |
13: 74,210,387 (GRCm39) |
|
probably benign |
Het |
Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
Kcnk18 |
G |
T |
19: 59,223,502 (GRCm39) |
A216S |
probably benign |
Het |
Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
Sema4f |
T |
C |
6: 82,914,155 (GRCm39) |
T68A |
probably benign |
Het |
Snx19 |
T |
G |
9: 30,340,380 (GRCm39) |
V506G |
possibly damaging |
Het |
Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
Syce1l |
T |
G |
8: 114,376,134 (GRCm39) |
L28R |
probably damaging |
Het |
Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
Other mutations in Neurl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |