Incidental Mutation 'R4539:Neurl1a'
ID |
333472 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R4539 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47167259-47247880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47245183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 458
(S458T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
[ENSMUST00000111807]
[ENSMUST00000111808]
|
AlphaFold |
Q923S6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081619
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617
Domain | Start | End | E-Value | Type |
PX
|
3 |
124 |
3.6e-32 |
SMART |
SH3
|
169 |
224 |
3.24e-16 |
SMART |
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
SH3
|
269 |
324 |
6.49e-16 |
SMART |
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
SH3
|
450 |
505 |
4.49e-10 |
SMART |
low complexity region
|
519 |
537 |
N/A |
INTRINSIC |
low complexity region
|
632 |
652 |
N/A |
INTRINSIC |
low complexity region
|
654 |
676 |
N/A |
INTRINSIC |
low complexity region
|
685 |
709 |
N/A |
INTRINSIC |
SH3
|
836 |
891 |
2.41e-10 |
SMART |
SH3
|
1066 |
1124 |
3.85e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111800
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617
Domain | Start | End | E-Value | Type |
PX
|
3 |
124 |
3.6e-32 |
SMART |
SH3
|
169 |
224 |
3.24e-16 |
SMART |
SH3
|
241 |
296 |
6.49e-16 |
SMART |
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
SH3
|
422 |
477 |
4.49e-10 |
SMART |
low complexity region
|
491 |
509 |
N/A |
INTRINSIC |
low complexity region
|
604 |
624 |
N/A |
INTRINSIC |
low complexity region
|
626 |
648 |
N/A |
INTRINSIC |
low complexity region
|
657 |
681 |
N/A |
INTRINSIC |
SH3
|
808 |
863 |
2.41e-10 |
SMART |
SH3
|
1038 |
1096 |
3.85e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111807
AA Change: S441T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000107438 Gene: ENSMUSG00000006435 AA Change: S441T
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: S458T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107439 Gene: ENSMUSG00000006435 AA Change: S458T
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,765,793 (GRCm39) |
T702A |
probably benign |
Het |
Alms1 |
C |
T |
6: 85,597,460 (GRCm39) |
T762I |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,497,070 (GRCm39) |
M465T |
probably benign |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Camta1 |
T |
C |
4: 151,169,269 (GRCm39) |
I161V |
probably benign |
Het |
Cpeb4 |
G |
A |
11: 31,823,206 (GRCm39) |
G307S |
probably damaging |
Het |
Eps8l1 |
T |
C |
7: 4,481,623 (GRCm39) |
V707A |
probably damaging |
Het |
Espn |
G |
A |
4: 152,218,665 (GRCm39) |
Q473* |
probably null |
Het |
Fut9 |
A |
T |
4: 25,619,793 (GRCm39) |
H340Q |
probably damaging |
Het |
Gm11554 |
A |
T |
11: 99,695,186 (GRCm39) |
|
probably benign |
Het |
Hcar2 |
A |
G |
5: 124,002,793 (GRCm39) |
F237L |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,452,970 (GRCm39) |
C492* |
probably null |
Het |
Lrrk2 |
C |
T |
15: 91,613,345 (GRCm39) |
P823L |
possibly damaging |
Het |
Luzp2 |
A |
T |
7: 54,713,037 (GRCm39) |
Q91L |
probably damaging |
Het |
Mapkapk5 |
T |
A |
5: 121,675,218 (GRCm39) |
H117L |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,276,478 (GRCm39) |
L1209P |
probably damaging |
Het |
Myo3b |
T |
G |
2: 69,869,491 (GRCm39) |
M1R |
probably null |
Het |
Nacad |
A |
T |
11: 6,550,677 (GRCm39) |
V838E |
possibly damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,668,470 (GRCm39) |
D874G |
probably damaging |
Het |
Phykpl |
A |
G |
11: 51,484,915 (GRCm39) |
T292A |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,219,699 (GRCm39) |
Y1003H |
probably damaging |
Het |
Ppih |
A |
G |
4: 119,177,656 (GRCm39) |
S6P |
probably benign |
Het |
Qrich1 |
A |
G |
9: 108,411,399 (GRCm39) |
E308G |
probably damaging |
Het |
Setx |
A |
G |
2: 29,069,760 (GRCm39) |
T2522A |
probably benign |
Het |
Slc26a8 |
A |
T |
17: 28,878,591 (GRCm39) |
M332K |
probably benign |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,255,514 (GRCm39) |
V745A |
probably benign |
Het |
Swi5 |
T |
C |
2: 32,169,092 (GRCm39) |
N118S |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 35,937,607 (GRCm39) |
T1689A |
probably damaging |
Het |
Ttll9 |
C |
T |
2: 152,836,011 (GRCm39) |
R252C |
probably damaging |
Het |
Vars2 |
T |
A |
17: 35,977,780 (GRCm39) |
E80V |
probably damaging |
Het |
Zbtb39 |
G |
A |
10: 127,578,061 (GRCm39) |
D212N |
possibly damaging |
Het |
Zfp418 |
C |
A |
7: 7,184,276 (GRCm39) |
Q80K |
probably benign |
Het |
Zscan25 |
A |
G |
5: 145,225,201 (GRCm39) |
D259G |
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 |
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 |
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'- ACCTAGGGAAAGTTGGCTTGG -3'
(R):5'- CTCTCTATAGGATTTCGAGAGACGC -3'
Sequencing Primer
(F):5'- ATGATACTACCTCCTGACCTATAGG -3'
(R):5'- TTTCGAGAGACGCATTGACC -3'
|
Posted On |
2015-08-18 |