Incidental Mutation 'R0062:Dpysl3'
ID |
16259 |
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 |
038354-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.581)
|
Stock # |
R0062 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
43454049-43571351 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 43466941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114981
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025379]
[ENSMUST00000118043]
[ENSMUST00000118071]
[ENSMUST00000121805]
[ENSMUST00000124207]
|
AlphaFold |
Q62188 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025379
|
SMART Domains |
Protein: ENSMUSP00000025379 Gene: ENSMUSG00000024501
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 null
Transcript: ENSMUST00000118043
|
SMART Domains |
Protein: ENSMUSP00000113711 Gene: ENSMUSG00000024501
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: ENSMUST00000118071
|
SMART Domains |
Protein: ENSMUSP00000113604 Gene: ENSMUSG00000024501
Domain | Start | End | E-Value | Type |
PDB:4BKN|B
|
1 |
91 |
2e-58 |
PDB |
SCOP:d1gkra2
|
1 |
96 |
3e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121805
|
SMART Domains |
Protein: ENSMUSP00000112928 Gene: ENSMUSG00000024501
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124207
|
SMART Domains |
Protein: ENSMUSP00000114981 Gene: ENSMUSG00000024501
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
6 |
202 |
1e-23 |
PFAM |
Pfam:Amidohydro_4
|
16 |
199 |
1.2e-8 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 83.4%
- 20x: 77.5%
|
Validation Efficiency |
91% (72/79) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513I03Rik |
G |
T |
10: 120,614,511 (GRCm39) |
|
probably benign |
Het |
Abi2 |
T |
A |
1: 60,492,884 (GRCm39) |
N182K |
probably benign |
Het |
Adam25 |
A |
T |
8: 41,207,829 (GRCm39) |
H365L |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,603,030 (GRCm39) |
Y20N |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,093,150 (GRCm39) |
I977N |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,648,343 (GRCm39) |
Y161H |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,579,198 (GRCm39) |
D1480G |
probably damaging |
Het |
Chl1 |
A |
T |
6: 103,726,613 (GRCm39) |
Y1143F |
unknown |
Het |
Clk3 |
A |
G |
9: 57,659,449 (GRCm39) |
M533T |
probably damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Cnbd1 |
A |
G |
4: 18,860,504 (GRCm39) |
I414T |
possibly damaging |
Het |
Commd3 |
A |
T |
2: 18,679,514 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
A |
17: 30,984,685 (GRCm39) |
F3128I |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,379,224 (GRCm39) |
|
probably null |
Het |
Ebf2 |
T |
A |
14: 67,475,989 (GRCm39) |
|
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,305,624 (GRCm39) |
E250G |
possibly damaging |
Het |
Fmn2 |
A |
T |
1: 174,436,015 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,179,621 (GRCm39) |
I2929V |
probably benign |
Het |
Gm11232 |
T |
A |
4: 71,675,112 (GRCm39) |
Q130L |
possibly damaging |
Het |
Gna15 |
A |
G |
10: 81,348,239 (GRCm39) |
|
probably null |
Het |
Gtf3c5 |
T |
C |
2: 28,462,198 (GRCm39) |
|
probably benign |
Het |
Irs2 |
G |
A |
8: 11,055,723 (GRCm39) |
T903I |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Izumo1 |
A |
G |
7: 45,276,621 (GRCm39) |
T395A |
probably benign |
Het |
Kcnd2 |
G |
A |
6: 21,727,225 (GRCm39) |
V593M |
possibly damaging |
Het |
Kprp |
T |
C |
3: 92,731,989 (GRCm39) |
S354G |
probably damaging |
Het |
Krt72 |
T |
C |
15: 101,694,443 (GRCm39) |
K151E |
probably damaging |
Het |
Letm2 |
A |
T |
8: 26,077,464 (GRCm39) |
|
probably benign |
Het |
Lipe |
A |
G |
7: 25,097,874 (GRCm39) |
V23A |
possibly damaging |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Mthfd1 |
G |
A |
12: 76,344,363 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
C |
A |
1: 60,286,876 (GRCm39) |
N899K |
probably benign |
Het |
Odad2 |
T |
A |
18: 7,129,593 (GRCm39) |
|
probably benign |
Het |
Or10ak14 |
T |
C |
4: 118,611,100 (GRCm39) |
I212V |
probably benign |
Het |
Or4c118 |
T |
C |
2: 88,974,966 (GRCm39) |
I134V |
possibly damaging |
Het |
Pcdha1 |
T |
A |
18: 37,139,681 (GRCm39) |
W437R |
probably benign |
Het |
Pcdhga11 |
T |
G |
18: 37,941,528 (GRCm39) |
I643S |
probably benign |
Het |
Pik3r6 |
T |
A |
11: 68,419,635 (GRCm39) |
Y149N |
probably damaging |
Het |
Pja2 |
C |
A |
17: 64,615,966 (GRCm39) |
V310L |
probably damaging |
Het |
Ripor3 |
A |
G |
2: 167,826,358 (GRCm39) |
|
probably benign |
Het |
Rpa2 |
C |
A |
4: 132,505,125 (GRCm39) |
N251K |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,029,090 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,884,002 (GRCm39) |
|
probably null |
Het |
Scara3 |
T |
C |
14: 66,168,417 (GRCm39) |
N400S |
probably damaging |
Het |
Slc8b1 |
T |
A |
5: 120,659,928 (GRCm39) |
|
probably null |
Het |
Slco1a4 |
G |
A |
6: 141,765,205 (GRCm39) |
Q346* |
probably null |
Het |
Stk32b |
A |
G |
5: 37,618,792 (GRCm39) |
S229P |
probably damaging |
Het |
Syde2 |
A |
G |
3: 145,704,508 (GRCm39) |
R487G |
probably benign |
Het |
Tbc1d2b |
T |
C |
9: 90,104,355 (GRCm39) |
|
probably benign |
Het |
Ticrr |
T |
C |
7: 79,317,654 (GRCm39) |
V396A |
probably benign |
Het |
Trrap |
T |
C |
5: 144,719,003 (GRCm39) |
|
probably benign |
Het |
Vps13a |
A |
T |
19: 16,646,054 (GRCm39) |
H1994Q |
probably damaging |
Het |
Wdr36 |
T |
G |
18: 32,997,802 (GRCm39) |
V820G |
possibly damaging |
Het |
Wdr83 |
G |
A |
8: 85,806,456 (GRCm39) |
T114I |
possibly damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,252,658 (GRCm39) |
K1324E |
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 |
|
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 |
R3434:Dpysl3
|
UTSW |
18 |
43,494,126 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Posted On |
2013-01-20 |