Incidental Mutation 'R2393:Neurl4'
| ID |
247882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neurl4
|
| Ensembl Gene |
ENSMUSG00000047284 |
| Gene Name |
neuralized E3 ubiquitin protein ligase 4 |
| Synonyms |
0610025P10Rik |
| MMRRC Submission |
040361-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69792545-69804648 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69797900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 720
(R720H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135185
(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: R720H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
AA Change: R720H
| 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: R698H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
AA Change: R698H
| 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: R463H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
AA Change: R463H
| 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 |
probably damaging
Transcript: ENSMUST00000177138
AA Change: R698H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
AA Change: R698H
| 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: R720H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
AA Change: R720H
| 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 |
noncoding transcript
Transcript: ENSMUST00000177160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175761
|
| Meta Mutation Damage Score |
0.1350 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,225,057 (GRCm39) |
L512* |
probably null |
Het |
| Adam4 |
A |
T |
12: 81,467,485 (GRCm39) |
F379I |
probably benign |
Het |
| Ano6 |
C |
G |
15: 95,863,906 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,535 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Arl8a |
T |
A |
1: 135,080,604 (GRCm39) |
V93E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,630 (GRCm39) |
I95N |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,928,436 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,397,100 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,157,631 (GRCm39) |
D171E |
possibly damaging |
Het |
| Chrna7 |
G |
A |
7: 62,748,994 (GRCm39) |
A496V |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Colgalt1 |
C |
G |
8: 72,076,385 (GRCm39) |
T612S |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,787,893 (GRCm39) |
K602E |
probably benign |
Het |
| Crtc1 |
T |
A |
8: 70,840,808 (GRCm39) |
T473S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,625,290 (GRCm39) |
|
probably null |
Het |
| Edem1 |
T |
G |
6: 108,829,504 (GRCm39) |
M541R |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,696,229 (GRCm39) |
V953G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,828,968 (GRCm39) |
|
probably null |
Het |
| Focad |
A |
G |
4: 88,039,567 (GRCm39) |
D10G |
probably damaging |
Het |
| Gfus |
G |
T |
15: 75,798,200 (GRCm39) |
L191I |
probably damaging |
Het |
| Gm5901 |
G |
T |
7: 105,026,996 (GRCm39) |
V255F |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,659,840 (GRCm39) |
N416S |
probably damaging |
Het |
| Hspb1 |
T |
C |
5: 135,917,950 (GRCm39) |
F142L |
probably benign |
Het |
| Il17re |
C |
T |
6: 113,439,314 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,568 (GRCm39) |
I389T |
probably damaging |
Het |
| Lhx6 |
T |
C |
2: 35,981,402 (GRCm39) |
D63G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,327 (GRCm39) |
T156A |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,534,197 (GRCm39) |
Y680C |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,365 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Mst1 |
T |
G |
9: 107,960,151 (GRCm39) |
|
probably null |
Het |
| Myh13 |
T |
A |
11: 67,231,184 (GRCm39) |
S394T |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,290,529 (GRCm39) |
V1042E |
probably damaging |
Het |
| Ndrg4 |
T |
A |
8: 96,432,839 (GRCm39) |
Y15* |
probably null |
Het |
| Nfkbia |
A |
G |
12: 55,537,455 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,389,055 (GRCm39) |
M202K |
probably benign |
Het |
| Or10d4 |
G |
T |
9: 39,580,569 (GRCm39) |
C72F |
possibly damaging |
Het |
| Or2av9 |
T |
A |
11: 58,381,546 (GRCm39) |
I12F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,581,036 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,480,368 (GRCm39) |
T715A |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,935 (GRCm39) |
L858P |
probably benign |
Het |
| Pla2g3 |
A |
C |
11: 3,443,115 (GRCm39) |
S483R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,798 (GRCm39) |
D573E |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,912,352 (GRCm39) |
|
probably benign |
Het |
| Rpl39l |
A |
T |
16: 9,992,328 (GRCm39) |
*52L |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,194,501 (GRCm39) |
R381W |
possibly damaging |
Het |
| Spns3 |
T |
A |
11: 72,441,059 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,259,872 (GRCm39) |
S493P |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,892,836 (GRCm39) |
S293P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,583,211 (GRCm39) |
V20815M |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,847,132 (GRCm39) |
I167V |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,340,231 (GRCm39) |
A1296T |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,158,180 (GRCm39) |
Y573C |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCTACTATTGTGGATGACG -3'
(R):5'- TCAAACAGTTCTCCATCCCG -3'
Sequencing Primer
(F):5'- ATGACGTGGGTGAGGGCC -3'
(R):5'- AGGGCTCTGTCAGGGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation