Incidental Mutation 'IGL03169:Dpysl4'
ID |
411784 |
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 # |
IGL03169
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
138665917-138681711 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 138679826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016125]
[ENSMUST00000026551]
[ENSMUST00000026551]
[ENSMUST00000026551]
[ENSMUST00000121184]
[ENSMUST00000121184]
[ENSMUST00000121184]
[ENSMUST00000165870]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016125
|
SMART Domains |
Protein: ENSMUSP00000016125 Gene: ENSMUSG00000015981
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
low complexity region
|
62 |
80 |
N/A |
INTRINSIC |
S_TKc
|
94 |
354 |
9.16e-82 |
SMART |
low complexity region
|
398 |
407 |
N/A |
INTRINSIC |
low complexity region
|
408 |
418 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000026551
|
SMART Domains |
Protein: ENSMUSP00000026551 Gene: ENSMUSG00000025478
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000026551
|
SMART Domains |
Protein: ENSMUSP00000026551 Gene: ENSMUSG00000025478
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000026551
|
SMART Domains |
Protein: ENSMUSP00000026551 Gene: ENSMUSG00000025478
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121184
|
SMART Domains |
Protein: ENSMUSP00000112896 Gene: ENSMUSG00000025478
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
85 |
474 |
1.1e-41 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121184
|
SMART Domains |
Protein: ENSMUSP00000112896 Gene: ENSMUSG00000025478
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
85 |
474 |
1.1e-41 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121184
|
SMART Domains |
Protein: ENSMUSP00000112896 Gene: ENSMUSG00000025478
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: ENSMUST00000154273
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165870
|
SMART Domains |
Protein: ENSMUSP00000126638 Gene: ENSMUSG00000015981
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
1 |
232 |
1.2e-30 |
PFAM |
Pfam:Pkinase
|
1 |
235 |
1.5e-51 |
PFAM |
Pfam:Kinase-like
|
12 |
223 |
6.2e-13 |
PFAM |
low complexity region
|
280 |
289 |
N/A |
INTRINSIC |
low complexity region
|
290 |
300 |
N/A |
INTRINSIC |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
A |
T |
8: 84,658,624 (GRCm39) |
I548F |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,652,019 (GRCm39) |
Q2995L |
probably damaging |
Het |
Capn9 |
T |
C |
8: 125,332,616 (GRCm39) |
I485T |
probably damaging |
Het |
Ccdc17 |
T |
A |
4: 116,454,957 (GRCm39) |
I197N |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,642,928 (GRCm39) |
L222Q |
probably damaging |
Het |
Ctla4 |
T |
C |
1: 60,953,764 (GRCm39) |
|
probably benign |
Het |
Cyp2d12 |
T |
C |
15: 82,443,492 (GRCm39) |
S485P |
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,457,166 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
C |
A |
2: 156,552,938 (GRCm39) |
|
probably null |
Het |
Erbin |
T |
C |
13: 103,977,740 (GRCm39) |
M606V |
possibly damaging |
Het |
Fat4 |
T |
G |
3: 39,011,547 (GRCm39) |
S2216A |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,429,713 (GRCm39) |
N2779S |
probably benign |
Het |
Fut1 |
T |
C |
7: 45,268,457 (GRCm39) |
V82A |
probably benign |
Het |
Gnb1l |
C |
T |
16: 18,359,205 (GRCm39) |
A2V |
probably damaging |
Het |
Hdac1 |
C |
T |
4: 129,412,624 (GRCm39) |
E327K |
probably null |
Het |
Hdlbp |
A |
G |
1: 93,344,309 (GRCm39) |
V819A |
possibly damaging |
Het |
Ift122 |
T |
C |
6: 115,882,922 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
T |
C |
13: 95,867,785 (GRCm39) |
|
probably null |
Het |
Kntc1 |
T |
C |
5: 123,913,884 (GRCm39) |
V613A |
possibly damaging |
Het |
Lamb1 |
T |
C |
12: 31,373,645 (GRCm39) |
V1458A |
probably damaging |
Het |
Lef1 |
A |
G |
3: 130,988,312 (GRCm39) |
K265R |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,353,538 (GRCm39) |
D574G |
probably damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,324 (GRCm39) |
R100H |
probably benign |
Het |
Nr1d2 |
C |
T |
14: 18,216,703 (GRCm38) |
R155Q |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,964,122 (GRCm39) |
T3304A |
probably damaging |
Het |
Or2j3 |
G |
T |
17: 38,615,992 (GRCm39) |
S120Y |
probably damaging |
Het |
Or4a78 |
A |
G |
2: 89,497,831 (GRCm39) |
I133T |
possibly damaging |
Het |
Os9 |
G |
A |
10: 126,934,463 (GRCm39) |
T391M |
probably benign |
Het |
Parp6 |
C |
A |
9: 59,557,300 (GRCm39) |
Y131* |
probably null |
Het |
Plxdc1 |
T |
C |
11: 97,823,146 (GRCm39) |
E358G |
possibly damaging |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Ptprc |
A |
T |
1: 138,041,357 (GRCm39) |
S167R |
probably benign |
Het |
Rad54l2 |
T |
C |
9: 106,596,263 (GRCm39) |
D225G |
probably benign |
Het |
Rgs7 |
T |
C |
1: 175,098,401 (GRCm39) |
I53V |
possibly damaging |
Het |
Rpa1 |
T |
C |
11: 75,192,183 (GRCm39) |
D607G |
probably damaging |
Het |
Shisa5 |
T |
A |
9: 108,885,560 (GRCm39) |
H213Q |
probably damaging |
Het |
Syncrip |
A |
G |
9: 88,338,496 (GRCm39) |
|
probably benign |
Het |
Taf4b |
T |
G |
18: 14,954,592 (GRCm39) |
V556G |
probably damaging |
Het |
Tgif1 |
A |
C |
17: 71,151,836 (GRCm39) |
S258R |
possibly damaging |
Het |
Tmem106a |
T |
C |
11: 101,481,284 (GRCm39) |
|
probably benign |
Het |
Vmn1r113 |
A |
T |
7: 20,522,012 (GRCm39) |
H268L |
probably benign |
Het |
Vmn1r40 |
A |
T |
6: 89,692,005 (GRCm39) |
Q274L |
probably damaging |
Het |
Wdr70 |
A |
C |
15: 7,913,821 (GRCm39) |
I609M |
possibly damaging |
Het |
Wdr91 |
G |
A |
6: 34,882,426 (GRCm39) |
S241L |
possibly damaging |
Het |
Zfyve9 |
T |
C |
4: 108,553,022 (GRCm39) |
Y713C |
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 |
IGL02515:Dpysl4
|
APN |
7 |
138,676,651 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |