Incidental Mutation 'IGL03186:Neurl1a'
ID |
412483 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Neurl1a
|
Ensembl Gene |
ENSMUSG00000006435 |
Gene Name |
neuralized E3 ubiquitin protein ligase 1A |
Synonyms |
Neurl, Nlz, Rnf67, Neu1, 2410129E16Rik, Neur1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
IGL03186
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
47167259-47247880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47228916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 152
(F152Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111807]
[ENSMUST00000111808]
|
AlphaFold |
Q923S6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111807
AA Change: F135Y
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107438 Gene: ENSMUSG00000006435 AA Change: F135Y
Domain | Start | End | E-Value | Type |
NEUZ
|
43 |
166 |
8.33e-66 |
SMART |
Blast:NEUZ
|
186 |
213 |
1e-8 |
BLAST |
low complexity region
|
241 |
253 |
N/A |
INTRINSIC |
NEUZ
|
274 |
397 |
1.79e-56 |
SMART |
low complexity region
|
440 |
456 |
N/A |
INTRINSIC |
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
RING
|
504 |
543 |
2.22e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111808
AA Change: F152Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107439 Gene: ENSMUSG00000006435 AA Change: F152Y
Domain | Start | End | E-Value | Type |
NEUZ
|
60 |
183 |
8.33e-66 |
SMART |
Blast:NEUZ
|
203 |
230 |
9e-9 |
BLAST |
low complexity region
|
258 |
270 |
N/A |
INTRINSIC |
NEUZ
|
291 |
414 |
1.79e-56 |
SMART |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
low complexity region
|
486 |
499 |
N/A |
INTRINSIC |
RING
|
521 |
560 |
2.22e-2 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Depending on the targeted mutation, homozygotes show a spectrum of conflicting phenotypes ranging from axonemal and spermatid abnormalities, male sterility and deficient lactation, to just a specific olfactory discrimination defect and ethanol hypersensitivity on motor coordination. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,581,737 (GRCm39) |
I4769T |
possibly damaging |
Het |
Ankrd53 |
T |
C |
6: 83,740,695 (GRCm39) |
I106T |
probably benign |
Het |
Arsi |
A |
G |
18: 61,050,545 (GRCm39) |
D476G |
probably damaging |
Het |
Atp2c1 |
T |
C |
9: 105,290,329 (GRCm39) |
K760E |
probably benign |
Het |
C030048H21Rik |
A |
G |
2: 26,143,350 (GRCm39) |
|
probably null |
Het |
Cep152 |
A |
G |
2: 125,405,895 (GRCm39) |
S1546P |
probably benign |
Het |
Cimap1c |
T |
G |
9: 56,756,356 (GRCm39) |
N220T |
probably benign |
Het |
Clock |
T |
C |
5: 76,390,929 (GRCm39) |
H291R |
probably damaging |
Het |
Fkbp4 |
T |
C |
6: 128,411,763 (GRCm39) |
T109A |
probably benign |
Het |
Igkv1-117 |
T |
C |
6: 68,098,783 (GRCm39) |
Y111H |
probably damaging |
Het |
Kif20b |
A |
T |
19: 34,912,344 (GRCm39) |
E250V |
probably benign |
Het |
Mef2c |
A |
G |
13: 83,800,987 (GRCm39) |
N229S |
probably benign |
Het |
Ndufa9 |
A |
G |
6: 126,821,855 (GRCm39) |
V36A |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,100,671 (GRCm39) |
|
probably benign |
Het |
Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
Nlrp14 |
G |
T |
7: 106,785,877 (GRCm39) |
C651F |
probably damaging |
Het |
Or4a2 |
T |
A |
2: 89,248,188 (GRCm39) |
T190S |
probably damaging |
Het |
Or5ac20 |
A |
T |
16: 59,104,266 (GRCm39) |
V198E |
probably damaging |
Het |
Or7g21 |
T |
A |
9: 19,033,200 (GRCm39) |
D316E |
probably benign |
Het |
Pex2 |
C |
A |
3: 5,626,777 (GRCm39) |
A11S |
probably benign |
Het |
Pitpna |
C |
A |
11: 75,503,076 (GRCm39) |
H137N |
probably benign |
Het |
Pole |
T |
G |
5: 110,447,786 (GRCm39) |
|
probably null |
Het |
Rft1 |
T |
A |
14: 30,380,306 (GRCm39) |
I35N |
possibly damaging |
Het |
Serpina1e |
T |
C |
12: 103,915,462 (GRCm39) |
H248R |
probably benign |
Het |
Sgsm1 |
C |
T |
5: 113,432,887 (GRCm39) |
A254T |
probably benign |
Het |
St3gal3 |
G |
A |
4: 117,797,251 (GRCm39) |
P331S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,602,106 (GRCm39) |
K16773* |
probably null |
Het |
Zfp687 |
T |
C |
3: 94,918,405 (GRCm39) |
T456A |
probably benign |
Het |
Zranb1 |
A |
G |
7: 132,551,932 (GRCm39) |
I220M |
possibly damaging |
Het |
|
Other mutations in Neurl1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1403:Neurl1a
|
UTSW |
19 |
47,242,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Neurl1a
|
UTSW |
19 |
47,245,898 (GRCm39) |
missense |
probably benign |
0.16 |
R3040:Neurl1a
|
UTSW |
19 |
47,228,270 (GRCm39) |
missense |
probably benign |
0.00 |
R3435:Neurl1a
|
UTSW |
19 |
47,245,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R3767:Neurl1a
|
UTSW |
19 |
47,228,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R3770:Neurl1a
|
UTSW |
19 |
47,228,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R3884:Neurl1a
|
UTSW |
19 |
47,241,885 (GRCm39) |
missense |
probably benign |
0.30 |
R4539:Neurl1a
|
UTSW |
19 |
47,245,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Neurl1a
|
UTSW |
19 |
47,246,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Neurl1a
|
UTSW |
19 |
47,167,916 (GRCm39) |
missense |
probably benign |
|
R6167:Neurl1a
|
UTSW |
19 |
47,228,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R7353:Neurl1a
|
UTSW |
19 |
47,229,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R8088:Neurl1a
|
UTSW |
19 |
47,245,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R8097:Neurl1a
|
UTSW |
19 |
47,245,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R8482:Neurl1a
|
UTSW |
19 |
47,241,719 (GRCm39) |
missense |
probably damaging |
0.99 |
X0063:Neurl1a
|
UTSW |
19 |
47,242,113 (GRCm39) |
missense |
possibly damaging |
0.77 |
Z1176:Neurl1a
|
UTSW |
19 |
47,228,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2016-08-02 |