Incidental Mutation 'IGL01836:Dpysl4'
ID |
154955 |
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 # |
IGL01836
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
138665917-138681711 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 138676089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 294
(V294I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026551]
[ENSMUST00000121184]
[ENSMUST00000145499]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026551
AA Change: V273I
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026551 Gene: ENSMUSG00000025478 AA Change: V273I
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121184
AA Change: V294I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112896 Gene: ENSMUSG00000025478 AA Change: V294I
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh6a |
A |
G |
3: 138,019,097 (GRCm39) |
|
probably benign |
Het |
Atp1a1 |
C |
T |
3: 101,498,730 (GRCm39) |
G188R |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,522,311 (GRCm38) |
Y618H |
probably damaging |
Het |
Dot1l |
T |
C |
10: 80,621,700 (GRCm39) |
S451P |
probably benign |
Het |
Ehmt1 |
T |
A |
2: 24,753,232 (GRCm39) |
|
probably null |
Het |
Eps8 |
C |
T |
6: 137,460,539 (GRCm39) |
|
probably null |
Het |
Gm7247 |
T |
A |
14: 51,602,853 (GRCm39) |
I63K |
probably damaging |
Het |
Gsdme |
T |
A |
6: 50,199,769 (GRCm39) |
D270V |
probably damaging |
Het |
Kel |
T |
A |
6: 41,674,372 (GRCm39) |
T353S |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,704,331 (GRCm39) |
H403R |
probably benign |
Het |
Mrnip |
A |
G |
11: 50,090,675 (GRCm39) |
T280A |
probably benign |
Het |
Or1j14 |
C |
T |
2: 36,417,837 (GRCm39) |
Q138* |
probably null |
Het |
Pkdrej |
A |
G |
15: 85,705,159 (GRCm39) |
L259P |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,488,551 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,593,356 (GRCm39) |
S415P |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,472,239 (GRCm39) |
F968I |
probably damaging |
Het |
Rreb1 |
T |
C |
13: 38,115,433 (GRCm39) |
S931P |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,018,073 (GRCm39) |
I618V |
probably damaging |
Het |
Smtnl1 |
A |
T |
2: 84,645,714 (GRCm39) |
F386I |
probably damaging |
Het |
Sppl2b |
C |
T |
10: 80,697,220 (GRCm39) |
T30I |
probably benign |
Het |
Srf |
T |
C |
17: 46,860,108 (GRCm39) |
|
probably benign |
Het |
Tbc1d22b |
A |
G |
17: 29,818,932 (GRCm39) |
T429A |
probably damaging |
Het |
Tcf20 |
A |
T |
15: 82,739,356 (GRCm39) |
D698E |
probably damaging |
Het |
Tmem106c |
C |
A |
15: 97,867,567 (GRCm39) |
S250R |
probably benign |
Het |
Tmprss3 |
A |
G |
17: 31,410,018 (GRCm39) |
S199P |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,492,060 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
A |
G |
13: 67,480,525 (GRCm39) |
|
probably benign |
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 |
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 |
2014-02-04 |