Incidental Mutation 'R0656:Dpysl3'
ID |
226158 |
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 |
038841-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.581)
|
Stock # |
R0656 (G1)
|
Quality Score |
42 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
43454049-43571351 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43571136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 46
(E46G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121805]
|
AlphaFold |
Q62188 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121805
AA Change: E46G
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000112928 Gene: ENSMUSG00000024501 AA Change: E46G
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 |
0.2082 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.2%
|
Validation Efficiency |
98% (92/94) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
T |
A |
10: 70,704,630 (GRCm39) |
|
noncoding transcript |
Het |
Alox5 |
A |
G |
6: 116,400,291 (GRCm39) |
|
probably benign |
Het |
Anxa11 |
T |
A |
14: 25,874,421 (GRCm39) |
D203E |
probably damaging |
Het |
Atp12a |
A |
T |
14: 56,611,938 (GRCm39) |
N371Y |
probably damaging |
Het |
Bloc1s6 |
A |
G |
2: 122,584,543 (GRCm39) |
I39M |
probably benign |
Het |
Celsr3 |
A |
C |
9: 108,711,854 (GRCm39) |
I1688L |
possibly damaging |
Het |
Cgn |
T |
C |
3: 94,682,204 (GRCm39) |
|
probably benign |
Het |
Chd4 |
A |
T |
6: 125,079,930 (GRCm39) |
I453F |
probably damaging |
Het |
Dbnl |
A |
G |
11: 5,747,321 (GRCm39) |
T247A |
probably benign |
Het |
Dsg1a |
T |
C |
18: 20,468,949 (GRCm39) |
|
probably benign |
Het |
Fbp1 |
C |
T |
13: 63,019,099 (GRCm39) |
E150K |
probably benign |
Het |
Flnb |
T |
A |
14: 7,927,352 (GRCm38) |
L1854Q |
probably damaging |
Het |
Gcn1 |
C |
T |
5: 115,727,362 (GRCm39) |
T714M |
probably benign |
Het |
Gm12216 |
A |
T |
11: 53,704,162 (GRCm39) |
|
probably benign |
Het |
Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
Hmbs |
T |
A |
9: 44,248,657 (GRCm39) |
H256L |
probably benign |
Het |
Ibsp |
A |
T |
5: 104,457,886 (GRCm39) |
|
probably null |
Het |
Ints13 |
A |
G |
6: 146,453,959 (GRCm39) |
V240A |
probably benign |
Het |
Iqca1l |
C |
T |
5: 24,754,760 (GRCm39) |
V337M |
possibly damaging |
Het |
Kalrn |
T |
C |
16: 33,852,837 (GRCm39) |
D343G |
probably damaging |
Het |
Kin |
T |
C |
2: 10,090,531 (GRCm39) |
|
probably benign |
Het |
Klhdc1 |
T |
C |
12: 69,304,804 (GRCm39) |
V192A |
probably benign |
Het |
Lpar3 |
T |
A |
3: 145,946,426 (GRCm39) |
C35S |
possibly damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,998,953 (GRCm39) |
I122V |
possibly damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,452 (GRCm39) |
M222T |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,570,488 (GRCm39) |
S516Y |
possibly damaging |
Het |
Myo1e |
A |
T |
9: 70,274,956 (GRCm39) |
Q703L |
probably damaging |
Het |
Neb |
A |
G |
2: 52,115,570 (GRCm39) |
|
probably benign |
Het |
Necab3 |
T |
G |
2: 154,388,223 (GRCm39) |
E239A |
probably null |
Het |
Npr1 |
G |
T |
3: 90,368,676 (GRCm39) |
N461K |
probably benign |
Het |
Or4k44 |
T |
C |
2: 111,367,972 (GRCm39) |
I221V |
probably damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,428,543 (GRCm39) |
Y172C |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,474,954 (GRCm39) |
D30G |
probably benign |
Het |
Phf12 |
A |
C |
11: 77,920,158 (GRCm39) |
Q898P |
probably benign |
Het |
Plekhn1 |
T |
C |
4: 156,309,821 (GRCm39) |
E132G |
possibly damaging |
Het |
Ptpn3 |
A |
G |
4: 57,270,075 (GRCm39) |
V29A |
probably benign |
Het |
Rundc3b |
T |
A |
5: 8,619,529 (GRCm39) |
I143F |
probably damaging |
Het |
Ryr3 |
T |
G |
2: 112,478,651 (GRCm39) |
|
probably benign |
Het |
Sash1 |
A |
G |
10: 8,626,901 (GRCm39) |
|
probably null |
Het |
Slc4a2 |
A |
G |
5: 24,636,257 (GRCm39) |
D201G |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,150,871 (GRCm39) |
|
probably null |
Het |
Timm21 |
T |
C |
18: 84,967,326 (GRCm39) |
H150R |
probably damaging |
Het |
Tmem79 |
T |
C |
3: 88,240,241 (GRCm39) |
T236A |
probably damaging |
Het |
Usp34 |
G |
T |
11: 23,422,967 (GRCm39) |
V3095F |
probably damaging |
Het |
Vmn1r8 |
A |
T |
6: 57,013,573 (GRCm39) |
Q208L |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGATAAAGACCCAGACCTGAGAC -3'
(R):5'- TCTGAAGAAGAAAGCCCCTGAGCC -3'
Sequencing Primer
(F):5'- TGCACACTGGAAGATGCTAC -3'
(R):5'- CCGCTGTCGCTTGAACC -3'
|
Posted On |
2014-09-17 |