Incidental Mutation 'R4987:Dpysl3'
ID |
385932 |
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 |
042581-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.581)
|
Stock # |
R4987 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
43454049-43571351 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 43461492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 566
(M566I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025379]
[ENSMUST00000118043]
[ENSMUST00000121805]
[ENSMUST00000124207]
|
AlphaFold |
Q62188 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025379
AA Change: M453I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000025379 Gene: ENSMUSG00000024501 AA Change: M453I
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: M451I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113711 Gene: ENSMUSG00000024501 AA Change: M451I
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: M566I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112928 Gene: ENSMUSG00000024501 AA Change: M566I
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 benign
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135547
|
Meta Mutation Damage Score |
0.0958 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.3%
|
Validation Efficiency |
98% (44/45) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
T |
C |
6: 125,030,725 (GRCm39) |
S249P |
probably benign |
Het |
Adcy4 |
A |
G |
14: 56,010,934 (GRCm39) |
V661A |
probably benign |
Het |
Ahdc1 |
T |
G |
4: 132,791,631 (GRCm39) |
H957Q |
possibly damaging |
Het |
Atp10b |
A |
G |
11: 43,042,440 (GRCm39) |
|
probably benign |
Het |
B3gnt5 |
A |
T |
16: 19,587,952 (GRCm39) |
N57I |
probably damaging |
Het |
Brms1l |
T |
A |
12: 55,912,800 (GRCm39) |
D264E |
probably benign |
Het |
Camk1g |
T |
A |
1: 193,030,783 (GRCm39) |
N309Y |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,651,938 (GRCm39) |
T285A |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,454,635 (GRCm39) |
V227A |
probably benign |
Het |
Dennd1c |
G |
T |
17: 57,380,852 (GRCm39) |
T200K |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,498,721 (GRCm39) |
D985E |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,542,894 (GRCm39) |
M68T |
probably benign |
Het |
Gm26996 |
A |
G |
6: 130,567,959 (GRCm39) |
|
unknown |
Het |
Gm9991 |
A |
T |
1: 90,603,138 (GRCm39) |
|
noncoding transcript |
Het |
Gzmc |
T |
A |
14: 56,468,997 (GRCm39) |
I241L |
probably damaging |
Het |
Hibadh |
A |
T |
6: 52,599,880 (GRCm39) |
S105R |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,384,890 (GRCm39) |
I402T |
probably benign |
Het |
Krtap31-2 |
A |
G |
11: 99,827,396 (GRCm39) |
D76G |
possibly damaging |
Het |
Lin9 |
A |
G |
1: 180,496,329 (GRCm39) |
S249G |
probably damaging |
Het |
Lpcat1 |
T |
A |
13: 73,637,222 (GRCm39) |
|
probably null |
Het |
Mfap4 |
A |
G |
11: 61,376,908 (GRCm39) |
I46V |
probably benign |
Het |
Nos1 |
T |
C |
5: 118,064,598 (GRCm39) |
|
probably null |
Het |
Nostrin |
A |
G |
2: 68,986,775 (GRCm39) |
M107V |
probably benign |
Het |
Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
Or8k33 |
A |
C |
2: 86,383,579 (GRCm39) |
D296E |
probably null |
Het |
Pcdha12 |
T |
A |
18: 37,154,604 (GRCm39) |
V441E |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,587,118 (GRCm39) |
|
probably benign |
Het |
Plscr1l1 |
T |
C |
9: 92,236,637 (GRCm39) |
S175P |
probably damaging |
Het |
Ppme1 |
T |
C |
7: 99,994,278 (GRCm39) |
D145G |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,724,630 (GRCm39) |
V793A |
probably damaging |
Het |
Rlbp1 |
A |
T |
7: 79,029,879 (GRCm39) |
V118E |
probably damaging |
Het |
Serinc2 |
C |
T |
4: 130,156,820 (GRCm39) |
|
probably null |
Het |
Slc25a32 |
A |
G |
15: 38,963,414 (GRCm39) |
C136R |
possibly damaging |
Het |
Smco2 |
A |
G |
6: 146,757,590 (GRCm39) |
D48G |
possibly damaging |
Het |
Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
Ubr1 |
A |
T |
2: 120,794,047 (GRCm39) |
L46I |
probably benign |
Het |
Wdsub1 |
A |
G |
2: 59,700,737 (GRCm39) |
|
probably benign |
Het |
Zp3 |
T |
A |
5: 136,016,359 (GRCm39) |
C320* |
probably null |
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 |
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 |
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'- AAACTGTTGCTATGGTTTTGCC -3'
(R):5'- ACTCTGTTCCTGGTAGCACC -3'
Sequencing Primer
(F):5'- TCTGAGGAAGCCTGGTCC -3'
(R):5'- GTAGCACCAAAGGAGGATCTG -3'
|
Posted On |
2016-05-10 |