Incidental Mutation 'IGL00595:Dpysl4'
| ID |
10304 |
| 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: 0.082)
|
| Stock # |
IGL00595
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138665917-138681711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 138676092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 274
(V274F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026551
(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: V274F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: V274F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121184
AA Change: V295F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478
AA Change: V295F
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
A |
10: 28,849,954 (GRCm39) |
R161* |
probably null |
Het |
| Adam20 |
T |
A |
8: 41,249,084 (GRCm39) |
F398Y |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,192,250 (GRCm39) |
I374F |
probably damaging |
Het |
| Apol10a |
A |
T |
15: 77,369,135 (GRCm39) |
N45Y |
probably null |
Het |
| Asnsd1 |
A |
G |
1: 53,386,647 (GRCm39) |
S327P |
probably damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,893,252 (GRCm39) |
K168N |
probably damaging |
Het |
| Chmp1b2 |
A |
G |
X: 106,831,450 (GRCm39) |
S189P |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,540,018 (GRCm39) |
S292A |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,969,322 (GRCm39) |
D132V |
unknown |
Het |
| Gpr161 |
A |
G |
1: 165,146,372 (GRCm39) |
H436R |
probably benign |
Het |
| Jaml |
C |
T |
9: 45,012,287 (GRCm39) |
|
probably benign |
Het |
| Kcnc2 |
A |
T |
10: 112,297,893 (GRCm39) |
S606C |
probably damaging |
Het |
| Kcnc2 |
G |
T |
10: 112,297,892 (GRCm39) |
E605D |
probably benign |
Het |
| Kcnrg |
T |
C |
14: 61,845,359 (GRCm39) |
I133T |
probably damaging |
Het |
| Kdm7a |
A |
G |
6: 39,121,444 (GRCm39) |
I837T |
probably benign |
Het |
| Lactb2 |
A |
G |
1: 13,700,350 (GRCm39) |
L227S |
probably benign |
Het |
| Lats1 |
T |
G |
10: 7,578,069 (GRCm39) |
S398A |
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,725,710 (GRCm39) |
D19E |
probably benign |
Het |
| Nup107 |
A |
T |
10: 117,609,257 (GRCm39) |
C365* |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,609,273 (GRCm39) |
|
probably null |
Het |
| Plekhf2 |
T |
C |
4: 10,991,022 (GRCm39) |
K107E |
probably damaging |
Het |
| Rnf139 |
A |
T |
15: 58,770,391 (GRCm39) |
I139F |
possibly damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,836,006 (GRCm39) |
N348S |
probably benign |
Het |
| Rttn |
A |
T |
18: 88,992,464 (GRCm39) |
Q136H |
probably benign |
Het |
| Syne2 |
C |
T |
12: 75,972,420 (GRCm39) |
T1052I |
possibly damaging |
Het |
| Tom1l1 |
A |
T |
11: 90,565,566 (GRCm39) |
L101Q |
probably damaging |
Het |
| Tubal3 |
A |
G |
13: 3,983,015 (GRCm39) |
N265S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,079 (GRCm39) |
N131S |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,558,186 (GRCm39) |
S354G |
probably benign |
Het |
| Zfp961 |
G |
A |
8: 72,722,272 (GRCm39) |
A262T |
probably damaging |
Het |
|
| Other mutations in Dpysl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02515:Dpysl4
|
APN |
7 |
138,676,651 (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 |
2012-12-06 |
Incidental Mutation