Incidental Mutation 'R3040:Neurl1a'
ID |
264936 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neurl1a
|
Ensembl Gene |
ENSMUSG00000006435 |
Gene Name |
neuralized E3 ubiquitin protein ligase 1A |
Synonyms |
Neurl, Nlz, Rnf67, Neu1, 2410129E16Rik, Neur1 |
MMRRC Submission |
040556-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R3040 (G1)
|
Quality Score |
118 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47167259-47247880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47228270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111807]
[ENSMUST00000111808]
|
AlphaFold |
Q923S6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111807
AA Change: S22P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000107438 Gene: ENSMUSG00000006435 AA Change: S22P
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 benign
Transcript: ENSMUST00000111808
AA Change: S39P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107439 Gene: ENSMUSG00000006435 AA Change: S39P
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amotl1 |
A |
C |
9: 14,484,069 (GRCm39) |
V498G |
probably benign |
Het |
Ampd2 |
A |
G |
3: 107,983,732 (GRCm39) |
Y602H |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Ccar1 |
G |
T |
10: 62,592,273 (GRCm39) |
H760N |
possibly damaging |
Het |
Cyp2c50 |
A |
G |
19: 40,086,570 (GRCm39) |
N319S |
probably benign |
Het |
Dcdc2c |
G |
C |
12: 28,602,181 (GRCm39) |
A41G |
probably damaging |
Het |
Dzip3 |
G |
A |
16: 48,748,687 (GRCm39) |
S1083F |
probably damaging |
Het |
Etfdh |
C |
T |
3: 79,512,226 (GRCm39) |
R498Q |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,226,459 (GRCm39) |
C772S |
probably damaging |
Het |
Gask1b |
T |
A |
3: 79,794,432 (GRCm39) |
I300N |
possibly damaging |
Het |
Gdap2 |
T |
C |
3: 100,095,351 (GRCm39) |
|
probably null |
Het |
Iqcj |
T |
C |
3: 67,962,675 (GRCm39) |
S79P |
probably damaging |
Het |
Isg20l2 |
T |
C |
3: 87,839,302 (GRCm39) |
V171A |
probably benign |
Het |
Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,056,212 (GRCm39) |
|
probably null |
Het |
Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
Mepe |
T |
G |
5: 104,485,988 (GRCm39) |
L376R |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nedd4 |
T |
C |
9: 72,577,243 (GRCm39) |
F23L |
probably benign |
Het |
Pramel51 |
A |
T |
12: 88,145,118 (GRCm39) |
S69R |
probably benign |
Het |
Psmd2 |
T |
C |
16: 20,476,317 (GRCm39) |
V470A |
probably benign |
Het |
Pyroxd2 |
G |
T |
19: 42,723,957 (GRCm39) |
Q323K |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,969,008 (GRCm39) |
D1157G |
probably damaging |
Het |
Styxl1 |
C |
T |
5: 135,785,887 (GRCm39) |
A197T |
probably damaging |
Het |
Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
Trip12 |
A |
G |
1: 84,719,966 (GRCm39) |
V309A |
probably benign |
Het |
Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
Vmn1r122 |
G |
C |
7: 20,867,371 (GRCm39) |
P228R |
probably benign |
Het |
|
Other mutations in Neurl1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03186:Neurl1a
|
APN |
19 |
47,228,916 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGGAGTGACAGCAAATG -3'
(R):5'- GGTGATGGCATTGCAAAAGC -3'
Sequencing Primer
(F):5'- TGATAACATCACCTCCGAGGGG -3'
(R):5'- ATTGCAAAAGCTGGCCTGC -3'
|
Posted On |
2015-02-05 |