Incidental Mutation 'R6809:Dpysl4'
ID |
533707 |
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 |
044922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R6809 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
138665917-138681711 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 138673576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 199
(D199G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026551]
[ENSMUST00000121184]
[ENSMUST00000145499]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026551
AA Change: D178G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000026551 Gene: ENSMUSG00000025478 AA Change: D178G
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121184
AA Change: D199G
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000112896 Gene: ENSMUSG00000025478 AA Change: D199G
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
85 |
474 |
1.1e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145499
AA Change: D115G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117764 Gene: ENSMUSG00000025478 AA Change: D115G
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
1 |
148 |
2.7e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (51/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
T |
A |
1: 192,857,089 (GRCm39) |
V147E |
possibly damaging |
Het |
Abtb3 |
A |
G |
10: 85,467,240 (GRCm39) |
T732A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,621,072 (GRCm39) |
M3893K |
probably benign |
Het |
Aox3 |
T |
C |
1: 58,157,840 (GRCm39) |
S66P |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Bloc1s5 |
A |
G |
13: 38,787,961 (GRCm39) |
V141A |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,928,431 (GRCm39) |
N61S |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 7,999,468 (GRCm39) |
Y1083C |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,170,864 (GRCm39) |
V842A |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,899,103 (GRCm39) |
S858G |
probably benign |
Het |
Dlgap2 |
G |
T |
8: 14,229,619 (GRCm39) |
|
probably benign |
Het |
Eml6 |
C |
T |
11: 29,753,161 (GRCm39) |
V917I |
probably benign |
Het |
Fut9 |
T |
A |
4: 25,620,647 (GRCm39) |
T56S |
probably benign |
Het |
Gtdc1 |
G |
C |
2: 44,465,563 (GRCm39) |
S214* |
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,715,396 (GRCm39) |
F49S |
probably damaging |
Het |
Hoxd9 |
A |
G |
2: 74,529,590 (GRCm39) |
Y282C |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,609,661 (GRCm39) |
T195A |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,996,335 (GRCm39) |
S30T |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,390,925 (GRCm39) |
F2991L |
probably benign |
Het |
Lrrc34 |
T |
A |
3: 30,688,749 (GRCm39) |
Q184L |
possibly damaging |
Het |
Mapk1 |
A |
T |
16: 16,853,326 (GRCm39) |
M49L |
probably benign |
Het |
Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
Mrpl48 |
A |
G |
7: 100,195,574 (GRCm39) |
|
probably benign |
Het |
Ncln |
A |
G |
10: 81,323,512 (GRCm39) |
|
probably null |
Het |
Nol4 |
T |
A |
18: 23,053,882 (GRCm39) |
Q96L |
probably damaging |
Het |
Or2y1e |
G |
T |
11: 49,218,687 (GRCm39) |
V150L |
probably benign |
Het |
Or5g25 |
G |
A |
2: 85,478,317 (GRCm39) |
A116V |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,674,077 (GRCm39) |
|
probably null |
Het |
Pak5 |
T |
G |
2: 135,939,501 (GRCm39) |
I545L |
possibly damaging |
Het |
Paqr5 |
T |
A |
9: 61,876,064 (GRCm39) |
R157W |
probably null |
Het |
Pard3b |
G |
A |
1: 62,200,340 (GRCm39) |
R293H |
probably damaging |
Het |
Phf11d |
C |
A |
14: 59,593,844 (GRCm39) |
C110F |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,504,765 (GRCm39) |
P804S |
probably damaging |
Het |
Pnpla6 |
G |
A |
8: 3,584,611 (GRCm39) |
C743Y |
possibly damaging |
Het |
Pramel14 |
A |
G |
4: 143,719,651 (GRCm39) |
V238A |
probably benign |
Het |
Pramel58 |
C |
A |
5: 94,831,277 (GRCm39) |
Q95K |
probably benign |
Het |
Psip1 |
A |
G |
4: 83,386,879 (GRCm39) |
M164T |
probably benign |
Het |
Rgs22 |
C |
G |
15: 36,048,910 (GRCm39) |
S914T |
probably damaging |
Het |
Rufy4 |
G |
A |
1: 74,172,206 (GRCm39) |
V310I |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,741,816 (GRCm39) |
L2122F |
probably damaging |
Het |
Sgcb |
T |
G |
5: 73,798,036 (GRCm39) |
N142T |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,738,126 (GRCm39) |
E394G |
probably benign |
Het |
Slc29a2 |
T |
C |
19: 5,079,271 (GRCm39) |
V298A |
probably damaging |
Het |
Slf2 |
C |
A |
19: 44,931,907 (GRCm39) |
T654N |
probably damaging |
Het |
Spata4 |
A |
C |
8: 55,055,368 (GRCm39) |
K123Q |
possibly damaging |
Het |
Taar7b |
T |
C |
10: 23,876,756 (GRCm39) |
V307A |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,693,983 (GRCm39) |
E295G |
possibly damaging |
Het |
Ubqln4 |
A |
T |
3: 88,462,679 (GRCm39) |
Q48L |
possibly damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,647 (GRCm39) |
D148E |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,261,795 (GRCm39) |
N181Y |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,071,813 (GRCm39) |
V1026I |
possibly 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 |
|
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 |
|
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'- AGCTCTATCGTGTGACATGGC -3'
(R):5'- GGCAGCAGAGTATCTCACAC -3'
Sequencing Primer
(F):5'- ACATGGCTTGTTGATGGAGAAG -3'
(R):5'- GCAGAGTATCTCACACCTCCTC -3'
|
Posted On |
2018-09-12 |