Incidental Mutation 'R5608:Dpysl4'
| ID |
439392 |
| 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 |
043272-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5608 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
138665917-138681711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138678459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 473
(V473A)
|
| 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: V452A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: V452A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121184
AA Change: V473A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478
AA Change: V473A
| 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
|
| Meta Mutation Damage Score |
0.2853 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (54/57) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
T |
C |
10: 80,178,781 (GRCm39) |
D199G |
probably benign |
Het |
| Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,303,395 (GRCm39) |
E117G |
probably damaging |
Het |
| Alkbh7 |
A |
T |
17: 57,305,446 (GRCm39) |
I88F |
probably damaging |
Het |
| Ankrd26 |
C |
A |
6: 118,488,583 (GRCm39) |
D1359Y |
probably damaging |
Het |
| Apoo-ps |
T |
C |
13: 107,550,709 (GRCm39) |
|
noncoding transcript |
Het |
| Arfgap2 |
G |
A |
2: 91,100,547 (GRCm39) |
R298H |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,920,539 (GRCm39) |
V2109I |
probably damaging |
Het |
| Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
| Bpifa1 |
T |
C |
2: 153,989,495 (GRCm39) |
|
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,092,664 (GRCm39) |
Y737C |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
| Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
| Colec12 |
T |
A |
18: 9,848,267 (GRCm39) |
D148E |
possibly damaging |
Het |
| Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
| Dyrk3 |
T |
C |
1: 131,056,452 (GRCm39) |
S574G |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
| Helq |
C |
T |
5: 100,938,085 (GRCm39) |
G454S |
probably damaging |
Het |
| Incenp |
CGCTGCTGCTGC |
CGCTGCTGCTGCTGC |
19: 9,871,232 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
| Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
| Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
C |
12: 84,834,238 (GRCm39) |
|
probably null |
Het |
| Marcks |
A |
T |
10: 37,012,912 (GRCm39) |
V41E |
probably damaging |
Het |
| Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
| Nhlrc3 |
C |
T |
3: 53,369,732 (GRCm39) |
|
probably null |
Het |
| Or1n1b |
A |
G |
2: 36,780,527 (GRCm39) |
F111S |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
| Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
| Or8b8 |
G |
A |
9: 37,809,078 (GRCm39) |
C126Y |
probably damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,840,514 (GRCm39) |
N78S |
possibly damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,463 (GRCm39) |
K76* |
probably null |
Het |
| Ptpn21 |
T |
A |
12: 98,655,036 (GRCm39) |
T644S |
probably benign |
Het |
| Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,287,146 (GRCm39) |
|
probably null |
Het |
| Serpina5 |
A |
C |
12: 104,070,003 (GRCm39) |
Y300S |
probably damaging |
Het |
| Slc41a3 |
A |
G |
6: 90,617,889 (GRCm39) |
K279R |
probably benign |
Het |
| Smndc1 |
A |
G |
19: 53,372,084 (GRCm39) |
V110A |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,129 (GRCm39) |
Q1017R |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,547,581 (GRCm39) |
S1620T |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,741,603 (GRCm39) |
|
probably benign |
Het |
| Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGTCTGCCTTAGTTGCATG -3'
(R):5'- GTGAATGGCTTCCACTGTGC -3'
Sequencing Primer
(F):5'- CTGCCTTAGTTGCATGTGTTTC -3'
(R):5'- GTGCCTTCCAAATCCACATTAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation