Incidental Mutation 'R7695:Dpysl4'
| ID |
593606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpysl4
|
| Ensembl Gene |
ENSMUSG00000025478 |
| Gene Name |
dihydropyrimidinase-like 4 |
| Synonyms |
CRMP-3, Crmp3, DPY4, unc-33-like phosphoprotein 4, Drp-4, Ulip4 |
| MMRRC Submission |
045758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
138665917-138681711 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 138666039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026551]
[ENSMUST00000121184]
[ENSMUST00000145499]
[ENSMUST00000171843]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026551
AA Change: M1V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
| Predicted Effect |
probably benign
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 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 |
probably benign
Transcript: ENSMUST00000171843
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,415,487 (GRCm39) |
V689A |
possibly damaging |
Het |
| Casp12 |
A |
G |
9: 5,353,641 (GRCm39) |
E225G |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,868,668 (GRCm39) |
L806P |
probably damaging |
Het |
| Ccnd3 |
T |
A |
17: 47,908,421 (GRCm39) |
I164N |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,976,005 (GRCm39) |
V52A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,310,069 (GRCm39) |
R1554W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,497,260 (GRCm39) |
I239N |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,683,777 (GRCm39) |
V948D |
|
Het |
| Dnmt1 |
C |
A |
9: 20,825,281 (GRCm39) |
G1061V |
probably null |
Het |
| Elp5 |
T |
C |
11: 69,860,327 (GRCm39) |
T227A |
probably benign |
Het |
| Exosc1 |
G |
A |
19: 41,916,519 (GRCm39) |
H86Y |
possibly damaging |
Het |
| Foxn4 |
G |
T |
5: 114,394,648 (GRCm39) |
D426E |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,875,687 (GRCm39) |
L145P |
probably damaging |
Het |
| Gkn3 |
A |
G |
6: 87,361,422 (GRCm39) |
Y126H |
probably damaging |
Het |
| Gm16506 |
A |
G |
14: 43,962,463 (GRCm39) |
F148S |
|
Het |
| Gm3558 |
A |
G |
14: 19,121,623 (GRCm39) |
I76T |
probably benign |
Het |
| Gm49359 |
A |
G |
13: 62,604,558 (GRCm39) |
F45S |
possibly damaging |
Het |
| Gpc5 |
A |
T |
14: 115,330,026 (GRCm39) |
H63L |
unknown |
Het |
| H2bl1 |
T |
C |
13: 99,120,766 (GRCm39) |
T87A |
probably damaging |
Het |
| Hbs1l |
A |
T |
10: 21,175,116 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ide |
G |
A |
19: 37,306,435 (GRCm39) |
H113Y |
|
Het |
| Igkv3-3 |
A |
T |
6: 70,664,295 (GRCm39) |
S46C |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,233,612 (GRCm39) |
V1707D |
probably damaging |
Het |
| Kcna5 |
A |
T |
6: 126,511,174 (GRCm39) |
V318E |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,927,612 (GRCm39) |
F158S |
possibly damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,297 (GRCm39) |
D261V |
possibly damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,646,769 (GRCm39) |
I485F |
probably damaging |
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Mast1 |
A |
G |
8: 85,647,557 (GRCm39) |
V560A |
probably damaging |
Het |
| Mfap4 |
A |
T |
11: 61,376,545 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,650,936 (GRCm39) |
I1637T |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,810,212 (GRCm39) |
F1080I |
possibly damaging |
Het |
| Or1e17 |
T |
A |
11: 73,831,720 (GRCm39) |
V216E |
possibly damaging |
Het |
| Or4k48 |
A |
G |
2: 111,475,970 (GRCm39) |
V124A |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,207 (GRCm39) |
V245A |
probably benign |
Het |
| Or51a25 |
T |
C |
7: 102,372,866 (GRCm39) |
H277R |
probably benign |
Het |
| Pax2 |
A |
G |
19: 44,821,638 (GRCm39) |
Y318C |
probably damaging |
Het |
| Pcnx4 |
A |
T |
12: 72,588,350 (GRCm39) |
M53L |
probably benign |
Het |
| Pkd2l2 |
T |
A |
18: 34,561,298 (GRCm39) |
D435E |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,068,055 (GRCm39) |
Q1117* |
probably null |
Het |
| Ppp2r2c |
T |
C |
5: 37,104,526 (GRCm39) |
L302P |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,232,497 (GRCm39) |
F855L |
probably benign |
Het |
| Reg3d |
A |
T |
6: 78,354,119 (GRCm39) |
W103R |
probably benign |
Het |
| Rnf216 |
A |
C |
5: 143,071,659 (GRCm39) |
H440Q |
possibly damaging |
Het |
| Scn2a |
A |
G |
2: 65,542,251 (GRCm39) |
T785A |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,256,270 (GRCm39) |
Y844F |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,583,009 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,330,633 (GRCm39) |
S196T |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,891 (GRCm39) |
S285L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,666,305 (GRCm39) |
R11584* |
probably null |
Het |
| Ubap2 |
A |
G |
4: 41,211,740 (GRCm39) |
S341P |
probably damaging |
Het |
| Upf3a |
T |
G |
8: 13,848,279 (GRCm39) |
S358R |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,346,529 (GRCm39) |
I1636N |
possibly damaging |
Het |
| Zfp946 |
C |
A |
17: 22,674,002 (GRCm39) |
T252N |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAAATGACGGTCGGTGG -3'
(R):5'- GCAATGTCCACTTGAACCCC -3'
Sequencing Primer
(F):5'- ACACTCGGACTTCCTAAG -3'
(R):5'- ACTGCGCAAAGGGTTCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation