Incidental Mutation 'R3434:Dpysl3'
ID |
266371 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpysl3
|
Ensembl Gene |
ENSMUSG00000024501 |
Gene Name |
dihydropyrimidinase-like 3 |
Synonyms |
CRMP4, Ulip, 9430041P20Rik, CRMP-4, TUC4, Ulip1 |
MMRRC Submission |
040652-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.581)
|
Stock # |
R3434 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
43454049-43571351 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43494126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 70
(V70I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113711
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025379]
[ENSMUST00000118043]
[ENSMUST00000121805]
|
AlphaFold |
Q62188 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025379
AA Change: V72I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000025379 Gene: ENSMUSG00000024501 AA Change: V72I
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_5
|
35 |
104 |
8e-13 |
PFAM |
Pfam:Amidohydro_4
|
59 |
410 |
3.4e-14 |
PFAM |
Pfam:Amidohydro_1
|
64 |
413 |
7.3e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118043
AA Change: V70I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000113711 Gene: ENSMUSG00000024501 AA Change: V70I
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_5
|
33 |
102 |
2e-13 |
PFAM |
Pfam:Amidohydro_4
|
57 |
408 |
8.8e-15 |
PFAM |
Pfam:Amidohydro_1
|
62 |
411 |
2.5e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121805
AA Change: V185I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112928 Gene: ENSMUSG00000024501 AA Change: V185I
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
102 |
N/A |
INTRINSIC |
Pfam:Amidohydro_1
|
177 |
566 |
1.4e-41 |
PFAM |
Pfam:Amidohydro_3
|
481 |
566 |
1.2e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.0903 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
MGI Phenotype |
FUNCTION: This gene encodes a protein that belongs to the TUC (TOAD-64/Ulip/CRMP) family of proteins. Members of this family are phosphoproteins that function in axonal guidance and neuronal differentiation during development and regeneration of the nervous system. A mutation in the human gene is associated with amyotrophic lateral sclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired axon extension, abnormal neuron growth cones morphology and impaired anterograde transportation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,508,511 (GRCm39) |
A1008V |
probably damaging |
Het |
Adora3 |
A |
G |
3: 105,812,231 (GRCm39) |
K39R |
probably benign |
Het |
Ankib1 |
A |
G |
5: 3,742,760 (GRCm39) |
V1085A |
probably damaging |
Het |
Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
Azin1 |
T |
C |
15: 38,493,820 (GRCm39) |
I268V |
probably benign |
Het |
Carm1 |
T |
C |
9: 21,480,769 (GRCm39) |
F81S |
probably damaging |
Het |
Ccnjl |
A |
G |
11: 43,470,688 (GRCm39) |
Y152C |
probably damaging |
Het |
Chrna3 |
T |
A |
9: 54,931,610 (GRCm39) |
I61F |
possibly damaging |
Het |
Clca3a2 |
G |
A |
3: 144,514,522 (GRCm39) |
|
probably benign |
Het |
Clstn2 |
T |
A |
9: 97,336,768 (GRCm39) |
D903V |
probably benign |
Het |
Drg2 |
A |
T |
11: 60,352,218 (GRCm39) |
K180* |
probably null |
Het |
Dync2h1 |
A |
C |
9: 7,011,236 (GRCm39) |
H3659Q |
probably benign |
Het |
Dysf |
A |
T |
6: 84,047,870 (GRCm39) |
Y349F |
probably benign |
Het |
Epb41l4b |
T |
C |
4: 57,040,865 (GRCm39) |
N533D |
probably benign |
Het |
Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
Fasn |
G |
A |
11: 120,713,599 (GRCm39) |
A24V |
probably damaging |
Het |
Fhl4 |
T |
C |
10: 84,934,308 (GRCm39) |
T158A |
probably benign |
Het |
Fnbp1l |
C |
T |
3: 122,339,955 (GRCm39) |
R499Q |
probably damaging |
Het |
Hdlbp |
A |
T |
1: 93,355,883 (GRCm39) |
M358K |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
Lhx4 |
A |
G |
1: 155,578,147 (GRCm39) |
Y332H |
probably damaging |
Het |
Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
Mrps23 |
A |
G |
11: 88,100,940 (GRCm39) |
K44E |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
Or2ag13 |
A |
T |
7: 106,472,976 (GRCm39) |
Y159N |
probably benign |
Het |
Or4a67 |
T |
C |
2: 88,598,413 (GRCm39) |
D82G |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,418 (GRCm39) |
F204L |
probably benign |
Het |
P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
Phykpl |
A |
G |
11: 51,489,482 (GRCm39) |
T363A |
probably benign |
Het |
Pitpnm1 |
G |
A |
19: 4,162,234 (GRCm39) |
A1047T |
probably damaging |
Het |
Ppat |
A |
G |
5: 77,065,912 (GRCm39) |
I402T |
probably damaging |
Het |
Rpgr |
A |
G |
X: 10,042,841 (GRCm39) |
S656P |
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,110,928 (GRCm39) |
|
probably benign |
Het |
Sacs |
A |
G |
14: 61,449,752 (GRCm39) |
K3933E |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,505,847 (GRCm39) |
I1681V |
probably benign |
Het |
Sel1l3 |
T |
C |
5: 53,274,432 (GRCm39) |
D1016G |
probably benign |
Het |
Sf3a3 |
C |
A |
4: 124,618,870 (GRCm39) |
T277N |
possibly damaging |
Het |
Slc35a5 |
A |
G |
16: 44,964,396 (GRCm39) |
I279T |
probably benign |
Het |
Slc39a10 |
T |
C |
1: 46,874,877 (GRCm39) |
T142A |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,321,376 (GRCm39) |
|
probably null |
Het |
Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,698,721 (GRCm39) |
T5A |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,708,381 (GRCm39) |
|
probably null |
Het |
Ush2a |
C |
T |
1: 188,465,955 (GRCm39) |
P2841L |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
Vmn2r91 |
A |
T |
17: 18,330,370 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dpysl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02151:Dpysl3
|
APN |
18 |
43,491,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02533:Dpysl3
|
APN |
18 |
43,458,859 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02632:Dpysl3
|
APN |
18 |
43,526,090 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03111:Dpysl3
|
APN |
18 |
43,462,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03138:Dpysl3
|
UTSW |
18 |
43,458,859 (GRCm39) |
missense |
probably benign |
0.00 |
R0001:Dpysl3
|
UTSW |
18 |
43,491,440 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0062:Dpysl3
|
UTSW |
18 |
43,466,941 (GRCm39) |
splice site |
probably null |
|
R0062:Dpysl3
|
UTSW |
18 |
43,466,941 (GRCm39) |
splice site |
probably null |
|
R0656:Dpysl3
|
UTSW |
18 |
43,571,136 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1522:Dpysl3
|
UTSW |
18 |
43,496,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R1694:Dpysl3
|
UTSW |
18 |
43,461,439 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1764:Dpysl3
|
UTSW |
18 |
43,496,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Dpysl3
|
UTSW |
18 |
43,475,393 (GRCm39) |
missense |
probably benign |
0.07 |
R1880:Dpysl3
|
UTSW |
18 |
43,462,939 (GRCm39) |
splice site |
probably null |
|
R1907:Dpysl3
|
UTSW |
18 |
43,571,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R1925:Dpysl3
|
UTSW |
18 |
43,465,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R2248:Dpysl3
|
UTSW |
18 |
43,491,358 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4575:Dpysl3
|
UTSW |
18 |
43,475,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R4778:Dpysl3
|
UTSW |
18 |
43,487,867 (GRCm39) |
missense |
probably benign |
0.06 |
R4780:Dpysl3
|
UTSW |
18 |
43,487,867 (GRCm39) |
missense |
probably benign |
0.06 |
R4858:Dpysl3
|
UTSW |
18 |
43,467,079 (GRCm39) |
missense |
probably damaging |
0.96 |
R4987:Dpysl3
|
UTSW |
18 |
43,461,492 (GRCm39) |
missense |
probably benign |
0.00 |
R5151:Dpysl3
|
UTSW |
18 |
43,571,145 (GRCm39) |
missense |
probably benign |
0.00 |
R5152:Dpysl3
|
UTSW |
18 |
43,571,145 (GRCm39) |
missense |
probably benign |
0.00 |
R5229:Dpysl3
|
UTSW |
18 |
43,466,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R5373:Dpysl3
|
UTSW |
18 |
43,494,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5374:Dpysl3
|
UTSW |
18 |
43,494,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5383:Dpysl3
|
UTSW |
18 |
43,571,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R6014:Dpysl3
|
UTSW |
18 |
43,494,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R6837:Dpysl3
|
UTSW |
18 |
43,570,947 (GRCm39) |
missense |
probably benign |
0.01 |
R6958:Dpysl3
|
UTSW |
18 |
43,571,067 (GRCm39) |
missense |
probably benign |
|
R6991:Dpysl3
|
UTSW |
18 |
43,486,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R7087:Dpysl3
|
UTSW |
18 |
43,496,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:Dpysl3
|
UTSW |
18 |
43,462,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Dpysl3
|
UTSW |
18 |
43,571,107 (GRCm39) |
missense |
probably benign |
0.20 |
R8731:Dpysl3
|
UTSW |
18 |
43,571,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R9051:Dpysl3
|
UTSW |
18 |
43,462,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R9240:Dpysl3
|
UTSW |
18 |
43,487,867 (GRCm39) |
missense |
probably benign |
0.06 |
R9682:Dpysl3
|
UTSW |
18 |
43,491,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Dpysl3
|
UTSW |
18 |
43,571,192 (GRCm39) |
missense |
probably damaging |
0.96 |
R9786:Dpysl3
|
UTSW |
18 |
43,462,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTCCATGAACCAAACTGAGAG -3'
(R):5'- ACAGTGCCATGCAGATGATG -3'
Sequencing Primer
(F):5'- CTGAGAGAAGTGTGTATAATTTCCG -3'
(R):5'- CTGGGGCAGTAGTTTTGGATAC -3'
|
Posted On |
2015-02-18 |