Incidental Mutation 'R7367:Neurl4'
ID |
571892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neurl4
|
Ensembl Gene |
ENSMUSG00000047284 |
Gene Name |
neuralized E3 ubiquitin protein ligase 4 |
Synonyms |
0610025P10Rik |
MMRRC Submission |
045451-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7367 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69792545-69804648 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69799408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 928
(L928P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061837]
[ENSMUST00000108617]
[ENSMUST00000129475]
[ENSMUST00000133203]
[ENSMUST00000177138]
[ENSMUST00000177476]
|
AlphaFold |
Q5NCX5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061837
AA Change: L952P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053235 Gene: ENSMUSG00000047284 AA Change: L952P
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: L930P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104257 Gene: ENSMUSG00000047284 AA Change: L930P
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: L695P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117917 Gene: ENSMUSG00000047284 AA Change: L695P
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: L928P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135277 Gene: ENSMUSG00000047284 AA Change: L928P
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: L950P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135185 Gene: ENSMUSG00000047284 AA Change: L950P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
A |
G |
3: 137,996,312 (GRCm39) |
T374A |
probably benign |
Het |
Agps |
T |
A |
2: 75,698,657 (GRCm39) |
H348Q |
possibly damaging |
Het |
Ankrd34b |
C |
A |
13: 92,574,795 (GRCm39) |
T9K |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,138,328 (GRCm39) |
Q1203R |
probably damaging |
Het |
B4galnt4 |
A |
G |
7: 140,644,388 (GRCm39) |
N123D |
probably damaging |
Het |
Ccn6 |
A |
G |
10: 39,034,261 (GRCm39) |
C114R |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
Cfh |
A |
T |
1: 140,014,259 (GRCm39) |
H1188Q |
probably damaging |
Het |
Cisd1 |
A |
G |
10: 71,172,190 (GRCm39) |
Y31H |
probably damaging |
Het |
Cnga1 |
G |
A |
5: 72,762,701 (GRCm39) |
S271F |
possibly damaging |
Het |
Cntnap5a |
A |
G |
1: 116,370,025 (GRCm39) |
T881A |
probably benign |
Het |
Cracd |
T |
A |
5: 77,004,449 (GRCm39) |
L270Q |
unknown |
Het |
Cyp2s1 |
A |
T |
7: 25,505,398 (GRCm39) |
D355E |
possibly damaging |
Het |
Dnaaf10 |
A |
G |
11: 17,182,712 (GRCm39) |
Y291C |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 117,951,177 (GRCm39) |
R3044W |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 118,006,022 (GRCm39) |
D730G |
probably benign |
Het |
Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Flacc1 |
A |
T |
1: 58,706,023 (GRCm39) |
I282N |
probably benign |
Het |
Fsd2 |
A |
G |
7: 81,184,928 (GRCm39) |
I656T |
probably damaging |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gm45871 |
A |
T |
18: 90,609,224 (GRCm39) |
H154L |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,718,908 (GRCm39) |
N312K |
probably benign |
Het |
H2ac4 |
A |
G |
13: 23,935,333 (GRCm39) |
D73G |
possibly damaging |
Het |
Hsd17b4 |
T |
A |
18: 50,288,252 (GRCm39) |
H227Q |
probably damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,829,492 (GRCm39) |
S237T |
probably benign |
Het |
Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
Kcnv1 |
C |
T |
15: 44,972,638 (GRCm39) |
C415Y |
probably damaging |
Het |
Kif11 |
T |
A |
19: 37,408,789 (GRCm39) |
L1037H |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,834,751 (GRCm39) |
T1347A |
probably benign |
Het |
Lrrc32 |
G |
T |
7: 98,148,086 (GRCm39) |
E289* |
probably null |
Het |
Lrrc66 |
T |
C |
5: 73,765,724 (GRCm39) |
T440A |
probably benign |
Het |
Nos2 |
G |
A |
11: 78,840,916 (GRCm39) |
C788Y |
possibly damaging |
Het |
Or2c1 |
A |
G |
16: 3,657,166 (GRCm39) |
T110A |
probably damaging |
Het |
Or4x11 |
A |
G |
2: 89,868,156 (GRCm39) |
S298G |
probably benign |
Het |
Or5m5 |
T |
C |
2: 85,814,687 (GRCm39) |
W168R |
possibly damaging |
Het |
Pafah1b3 |
A |
G |
7: 24,995,491 (GRCm39) |
C156R |
probably benign |
Het |
Pak1ip1 |
T |
G |
13: 41,162,371 (GRCm39) |
N151K |
probably damaging |
Het |
Pax7 |
G |
A |
4: 139,507,060 (GRCm39) |
P326S |
probably benign |
Het |
Pex11b |
G |
A |
3: 96,543,994 (GRCm39) |
A21T |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,516,488 (GRCm39) |
V546A |
probably benign |
Het |
Ppat |
T |
A |
5: 77,067,711 (GRCm39) |
R260* |
probably null |
Het |
Ppp1r13l |
C |
G |
7: 19,104,081 (GRCm39) |
S187R |
probably benign |
Het |
Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
R3hdm1 |
A |
G |
1: 128,081,129 (GRCm39) |
D55G |
possibly damaging |
Het |
Rev1 |
A |
T |
1: 38,113,488 (GRCm39) |
Y526* |
probably null |
Het |
Rp1 |
A |
G |
1: 4,418,221 (GRCm39) |
W964R |
probably benign |
Het |
Sarnp |
A |
G |
10: 128,669,247 (GRCm39) |
I35V |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,013,785 (GRCm39) |
N730S |
probably benign |
Het |
Sh3d19 |
A |
G |
3: 86,011,535 (GRCm39) |
K374E |
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,122,577 (GRCm39) |
D446G |
probably benign |
Het |
Sugct |
T |
A |
13: 17,819,399 (GRCm39) |
I149F |
probably damaging |
Het |
Tle2 |
A |
G |
10: 81,416,152 (GRCm39) |
N142S |
probably damaging |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Trpm1 |
T |
A |
7: 63,918,549 (GRCm39) |
Y1514N |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,180,002 (GRCm39) |
S259L |
unknown |
Het |
Utp20 |
A |
T |
10: 88,631,305 (GRCm39) |
L892Q |
probably benign |
Het |
Zfp956 |
C |
T |
6: 47,940,853 (GRCm39) |
T404M |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCAGAGGTCTTGAGTCATGG -3'
(R):5'- CATGTCCTCTGGTGCAAGTGTG -3'
Sequencing Primer
(F):5'- AGCAGCCTGTCTGAAGGTAGTC -3'
(R):5'- TGCAAGTGTGGTCAGCC -3'
|
Posted On |
2019-09-13 |