Incidental Mutation 'IGL02515:Dpysl4'
| ID |
296737 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpysl4
|
| Ensembl Gene |
ENSMUSG00000025478 |
| Gene Name |
dihydropyrimidinase-like 4 |
| Synonyms |
CRMP-3, Crmp3, DPY4, unc-33-like phosphoprotein 4, Drp-4, Ulip4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138665917-138681711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 138676651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 367
(D367V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026551]
[ENSMUST00000121184]
[ENSMUST00000145499]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026551
AA Change: D346V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: D346V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121184
AA Change: D367V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478
AA Change: D367V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
85 |
474 |
1.1e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139364
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145499
|
| SMART Domains |
Protein: ENSMUSP00000117764
Gene: ENSMUSG00000025478
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
1 |
148 |
2.7e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154273
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit abnormal neurite outgrowth and lamination in the hippocampus, altered dendrite arborization and spine morphology in hippocampal pyramidal cells, and impaired LTP induction in the CA1 region. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,153,229 (GRCm39) |
D879G |
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,880,063 (GRCm39) |
F278Y |
possibly damaging |
Het |
| Cip2a |
A |
G |
16: 48,826,096 (GRCm39) |
T388A |
possibly damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,763 (GRCm39) |
|
probably benign |
Het |
| E330034G19Rik |
T |
A |
14: 24,348,052 (GRCm39) |
D101E |
possibly damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,378,933 (GRCm39) |
E811K |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,303,303 (GRCm39) |
V424E |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,425,604 (GRCm39) |
V21I |
probably benign |
Het |
| Gm5239 |
A |
G |
18: 35,669,787 (GRCm39) |
E51G |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,826,041 (GRCm39) |
S753G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,174,302 (GRCm39) |
Y648F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,368,243 (GRCm39) |
D11G |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,876 (GRCm39) |
D88G |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,987,259 (GRCm39) |
R600W |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,767,323 (GRCm39) |
|
probably benign |
Het |
| Or5b116 |
T |
A |
19: 13,422,472 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,087 (GRCm39) |
T196A |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,113,516 (GRCm39) |
D1323V |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,885,396 (GRCm39) |
R645G |
possibly damaging |
Het |
| Rnf2 |
A |
T |
1: 151,347,446 (GRCm39) |
D137E |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,747,952 (GRCm39) |
H430R |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,653,261 (GRCm39) |
V1534A |
possibly damaging |
Het |
| Stip1 |
T |
C |
19: 6,999,487 (GRCm39) |
T432A |
probably benign |
Het |
| Tnfsf14 |
T |
C |
17: 57,499,600 (GRCm39) |
D84G |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,525 (GRCm39) |
V601A |
probably damaging |
Het |
| Vmn1r215 |
T |
C |
13: 23,259,990 (GRCm39) |
I10T |
probably benign |
Het |
| Vtn |
A |
T |
11: 78,392,480 (GRCm39) |
I353F |
probably damaging |
Het |
|
| Other mutations in Dpysl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Dpysl4
|
APN |
7 |
138,676,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01836:Dpysl4
|
APN |
7 |
138,676,089 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02447:Dpysl4
|
APN |
7 |
138,678,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Dpysl4
|
APN |
7 |
138,679,826 (GRCm39) |
splice site |
probably null |
|
|
PIT4382001:Dpysl4
|
UTSW |
7 |
138,669,494 (GRCm39) |
nonsense |
probably null |
|
|
R0012:Dpysl4
|
UTSW |
7 |
138,677,799 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0012:Dpysl4
|
UTSW |
7 |
138,677,799 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1624:Dpysl4
|
UTSW |
7 |
138,669,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Dpysl4
|
UTSW |
7 |
138,670,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Dpysl4
|
UTSW |
7 |
138,670,215 (GRCm39) |
missense |
probably benign |
|
|
R1885:Dpysl4
|
UTSW |
7 |
138,676,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:Dpysl4
|
UTSW |
7 |
138,676,686 (GRCm39) |
missense |
probably benign |
|
|
R2698:Dpysl4
|
UTSW |
7 |
138,676,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3032:Dpysl4
|
UTSW |
7 |
138,676,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3762:Dpysl4
|
UTSW |
7 |
138,676,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3851:Dpysl4
|
UTSW |
7 |
138,680,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3852:Dpysl4
|
UTSW |
7 |
138,680,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Dpysl4
|
UTSW |
7 |
138,678,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4972:Dpysl4
|
UTSW |
7 |
138,670,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Dpysl4
|
UTSW |
7 |
138,671,906 (GRCm39) |
missense |
probably benign |
|
|
R5608:Dpysl4
|
UTSW |
7 |
138,678,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5762:Dpysl4
|
UTSW |
7 |
138,671,853 (GRCm39) |
missense |
probably benign |
|
|
R5887:Dpysl4
|
UTSW |
7 |
138,676,192 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6022:Dpysl4
|
UTSW |
7 |
138,666,000 (GRCm39) |
unclassified |
probably benign |
|
|
R6060:Dpysl4
|
UTSW |
7 |
138,669,324 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6180:Dpysl4
|
UTSW |
7 |
138,670,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Dpysl4
|
UTSW |
7 |
138,679,734 (GRCm39) |
missense |
probably benign |
|
|
R6809:Dpysl4
|
UTSW |
7 |
138,673,576 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6949:Dpysl4
|
UTSW |
7 |
138,671,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7647:Dpysl4
|
UTSW |
7 |
138,679,689 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7695:Dpysl4
|
UTSW |
7 |
138,666,039 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R7751:Dpysl4
|
UTSW |
7 |
138,669,456 (GRCm39) |
missense |
probably benign |
|
|
R8129:Dpysl4
|
UTSW |
7 |
138,666,076 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9538:Dpysl4
|
UTSW |
7 |
138,670,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Dpysl4
|
UTSW |
7 |
138,669,324 (GRCm39) |
start codon destroyed |
probably null |
|
|
Z1192:Dpysl4
|
UTSW |
7 |
138,669,324 (GRCm39) |
start codon destroyed |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation