Incidental Mutation 'R3435:Neurl1a'
ID |
267172 |
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 |
040653-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R3435 (G1)
|
Quality Score |
178 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47167259-47247880 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47245964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 532
(V532A)
|
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 damaging
Transcript: ENSMUST00000111807
AA Change: V515A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107438 Gene: ENSMUSG00000006435 AA Change: V515A
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: V532A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107439 Gene: ENSMUSG00000006435 AA Change: V532A
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 |
|
Meta Mutation Damage Score |
0.4462 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (33/33) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
C |
2: 68,432,189 (GRCm39) |
D91A |
unknown |
Het |
Abca9 |
T |
C |
11: 110,045,256 (GRCm39) |
E359G |
probably benign |
Het |
Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,038,631 (GRCm39) |
D150G |
probably damaging |
Het |
Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
Gm19965 |
C |
A |
1: 116,749,353 (GRCm39) |
H345N |
possibly damaging |
Het |
Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
A |
G |
3: 88,001,911 (GRCm39) |
I384V |
probably benign |
Het |
Lrrc57 |
T |
A |
2: 120,439,862 (GRCm39) |
|
probably benign |
Het |
Mafk |
C |
T |
5: 139,786,062 (GRCm39) |
Q87* |
probably null |
Het |
Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
Nod2 |
A |
G |
8: 89,390,637 (GRCm39) |
R293G |
possibly damaging |
Het |
Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
Or1j1 |
T |
A |
2: 36,702,690 (GRCm39) |
Q138L |
probably benign |
Het |
Osbpl3 |
A |
T |
6: 50,325,050 (GRCm39) |
N149K |
possibly damaging |
Het |
P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
Pbxip1 |
T |
C |
3: 89,354,543 (GRCm39) |
L354P |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,178,772 (GRCm39) |
M889L |
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 42,874,174 (GRCm39) |
Q52L |
possibly damaging |
Het |
Prob1 |
T |
C |
18: 35,787,294 (GRCm39) |
E320G |
possibly damaging |
Het |
Stard13 |
A |
T |
5: 150,965,644 (GRCm39) |
L937Q |
probably damaging |
Het |
Strn4 |
T |
C |
7: 16,571,558 (GRCm39) |
S563P |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,298,565 (GRCm39) |
D1114G |
probably damaging |
Het |
Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
Tmx3 |
T |
A |
18: 90,546,028 (GRCm39) |
V203E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,709,062 (GRCm39) |
|
probably benign |
Het |
Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
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 |
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'- TTTGCGTAGTGGCAGAAGAC -3'
(R):5'- AAGGGACCCTGTTGGCTTTG -3'
Sequencing Primer
(F):5'- TAGTGGCAGAAGACATGAGCTG -3'
(R):5'- GCTTTGCCCTCAGCTGGTG -3'
|
Posted On |
2015-02-18 |