Incidental Mutation 'R3851:Dpysl4'
| ID |
275924 |
| 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 |
040899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
138665917-138681711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138680851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 575
(T575M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016125]
[ENSMUST00000026551]
[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 damaging
Transcript: ENSMUST00000026551
AA Change: T554M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: T554M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
4.5e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121184
AA Change: T575M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478
AA Change: T575M
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
G |
A |
7: 101,039,372 (GRCm39) |
W544* |
probably null |
Het |
| AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
| Bcl9 |
G |
A |
3: 97,116,969 (GRCm39) |
P575L |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cry1 |
C |
A |
10: 84,982,363 (GRCm39) |
A328S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,529,939 (GRCm39) |
N799K |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,696 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,866,498 (GRCm39) |
|
probably null |
Het |
| Drc7 |
C |
T |
8: 95,788,464 (GRCm39) |
Q276* |
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,770,376 (GRCm39) |
T389A |
possibly damaging |
Het |
| Flnc |
T |
A |
6: 29,453,718 (GRCm39) |
L1801Q |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,490,936 (GRCm39) |
L463P |
probably benign |
Het |
| Fnip2 |
G |
C |
3: 79,369,464 (GRCm39) |
H1074D |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,115 (GRCm39) |
M5K |
unknown |
Het |
| Il27ra |
C |
T |
8: 84,767,317 (GRCm39) |
E169K |
probably benign |
Het |
| Insyn2a |
A |
G |
7: 134,486,255 (GRCm39) |
V432A |
probably benign |
Het |
| Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
| Lhfpl3 |
G |
A |
5: 22,980,985 (GRCm39) |
|
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,752 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
C |
G |
17: 13,060,880 (GRCm39) |
S181T |
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Nubpl |
T |
C |
12: 52,190,810 (GRCm39) |
M65T |
probably damaging |
Het |
| Or6c76b |
A |
C |
10: 129,693,016 (GRCm39) |
M210L |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,674,118 (GRCm39) |
I1042T |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,467,518 (GRCm39) |
S1779Y |
probably damaging |
Het |
| Pgm5 |
C |
T |
19: 24,797,567 (GRCm39) |
R205Q |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,492,752 (GRCm39) |
D292G |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,464 (GRCm39) |
H471N |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,527,427 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Sult2b1 |
G |
T |
7: 45,379,461 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,850,808 (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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGGGATGAGCAGGCTTC -3'
(R):5'- AAGGCTGAGCACCTTTCAC -3'
Sequencing Primer
(F):5'- CCTTGGCTTAGGGAGAGAACC -3'
(R):5'- GGCTGAGCACCTTTCACAATAAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation