Incidental Mutation 'IGL01951:Neurl4'
| ID |
181045 |
| 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 # |
IGL01951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69792545-69804648 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69800449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1147
(N1147D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057884]
[ENSMUST00000061837]
[ENSMUST00000072581]
[ENSMUST00000108617]
[ENSMUST00000116358]
[ENSMUST00000129475]
[ENSMUST00000177138]
[ENSMUST00000177476]
[ENSMUST00000133203]
|
| AlphaFold |
Q5NCX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057884
|
| SMART Domains |
Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G_path_suppress
|
5 |
294 |
6.1e-93 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061837
AA Change: N1147D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: N1147D
| 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: ENSMUST00000072581
|
| SMART Domains |
Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjva_
|
22 |
83 |
9e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108617
AA Change: N1125D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: N1125D
| 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: ENSMUST00000116358
|
| SMART Domains |
Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjva_
|
22 |
83 |
9e-3 |
SMART |
|
| 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: ENSMUST00000177138
AA Change: N1123D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: N1123D
| 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: N1145D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: N1145D
| 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 benign
Transcript: ENSMUST00000133203
AA Change: N890D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: N890D
| 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: ENSMUST00000177160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143861
|
| 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 |
|---|
| 4921539E11Rik |
A |
G |
4: 103,092,865 (GRCm39) |
I152T |
probably damaging |
Het |
| A2m |
C |
T |
6: 121,644,149 (GRCm39) |
T949I |
possibly damaging |
Het |
| Begain |
T |
A |
12: 108,999,571 (GRCm39) |
Y605F |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,570 (GRCm39) |
E9G |
possibly damaging |
Het |
| Cdh16 |
A |
G |
8: 105,344,323 (GRCm39) |
V72A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,844,638 (GRCm39) |
L268P |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,514,669 (GRCm39) |
Y28F |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,372,660 (GRCm39) |
F126Y |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21957 |
A |
T |
7: 124,819,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,841,280 (GRCm39) |
R618* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,633 (GRCm39) |
E25G |
probably damaging |
Het |
| Ifngr1 |
C |
A |
10: 19,485,202 (GRCm39) |
N400K |
possibly damaging |
Het |
| Lin7a |
G |
A |
10: 107,247,886 (GRCm39) |
V186I |
possibly damaging |
Het |
| Lpcat2 |
G |
T |
8: 93,644,675 (GRCm39) |
S448I |
probably damaging |
Het |
| Lrp10 |
C |
A |
14: 54,706,119 (GRCm39) |
Y436* |
probably null |
Het |
| Myef2l |
G |
A |
3: 10,154,118 (GRCm39) |
V296M |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,816,991 (GRCm39) |
H707R |
possibly damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,351 (GRCm39) |
D189E |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,438,853 (GRCm39) |
D299G |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,741 (GRCm39) |
S299P |
probably benign |
Het |
| Panx2 |
A |
G |
15: 88,952,970 (GRCm39) |
D487G |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,158 (GRCm39) |
N211S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,917,644 (GRCm39) |
Y27C |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,306,460 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
A |
T |
5: 114,104,308 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Stx2 |
A |
T |
5: 129,069,329 (GRCm39) |
F127L |
probably damaging |
Het |
| Synm |
A |
T |
7: 67,388,885 (GRCm39) |
I325N |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,690 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,007,048 (GRCm39) |
|
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,739 (GRCm39) |
|
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,726,096 (GRCm39) |
L354V |
probably benign |
Het |
| Trafd1 |
G |
A |
5: 121,512,094 (GRCm39) |
R399C |
possibly damaging |
Het |
| Trem3 |
C |
T |
17: 48,556,903 (GRCm39) |
R125W |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,780,686 (GRCm39) |
Y92* |
probably null |
Het |
| Wnk1 |
T |
A |
6: 119,940,446 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,343 (GRCm39) |
E195G |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,829 (GRCm39) |
D306G |
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 |
|
IGL01409:Neurl4
|
APN |
11 |
69,797,925 (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 |
2014-05-07 |
Incidental Mutation