Incidental Mutation 'IGL02533:Dpysl3'
| ID |
297388 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpysl3
|
| Ensembl Gene |
ENSMUSG00000024501 |
| Gene Name |
dihydropyrimidinase-like 3 |
| Synonyms |
CRMP4, Ulip, 9430041P20Rik, CRMP-4, TUC4, Ulip1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.581)
|
| Stock # |
IGL02533
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
43454049-43571351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43458859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 632
(T632A)
|
| 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: T519A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025379
Gene: ENSMUSG00000024501
AA Change: T519A
| 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: T517A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113711
Gene: ENSMUSG00000024501
AA Change: T517A
| 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: T632A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112928
Gene: ENSMUSG00000024501
AA Change: T632A
| 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 |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
| Bach2 |
T |
C |
4: 32,562,451 (GRCm39) |
V306A |
probably benign |
Het |
| Cnga4 |
T |
C |
7: 105,057,168 (GRCm39) |
Y424H |
probably damaging |
Het |
| Cops9 |
T |
C |
1: 92,567,438 (GRCm39) |
E79G |
possibly damaging |
Het |
| Crebbp |
T |
C |
16: 3,925,296 (GRCm39) |
N769D |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dennd4b |
A |
T |
3: 90,179,617 (GRCm39) |
H636L |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,383,039 (GRCm39) |
R857C |
probably damaging |
Het |
| Gbp10 |
A |
T |
5: 105,367,901 (GRCm39) |
V424D |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,454,429 (GRCm39) |
E146G |
possibly damaging |
Het |
| Has2 |
A |
T |
15: 56,545,091 (GRCm39) |
H170Q |
probably benign |
Het |
| Il22ra1 |
G |
A |
4: 135,472,034 (GRCm39) |
G190D |
possibly damaging |
Het |
| Lhcgr |
T |
C |
17: 89,049,838 (GRCm39) |
T563A |
probably benign |
Het |
| Mgat4b |
T |
A |
11: 50,124,379 (GRCm39) |
F413Y |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,581,099 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,782,241 (GRCm39) |
|
noncoding transcript |
Het |
| Ncoa7 |
A |
T |
10: 30,566,895 (GRCm39) |
S545R |
possibly damaging |
Het |
| Ncoa7 |
A |
C |
10: 30,598,781 (GRCm39) |
D47E |
probably damaging |
Het |
| Nme1 |
A |
G |
11: 93,850,257 (GRCm39) |
Y142H |
possibly damaging |
Het |
| Or10j3b |
A |
T |
1: 173,043,628 (GRCm39) |
M137L |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,047 (GRCm39) |
T309S |
probably benign |
Het |
| Or8i2 |
T |
A |
2: 86,852,697 (GRCm39) |
S64C |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,358,724 (GRCm39) |
I587T |
possibly damaging |
Het |
| Pias3 |
A |
G |
3: 96,606,932 (GRCm39) |
D65G |
possibly damaging |
Het |
| Pramel20 |
A |
G |
4: 143,297,572 (GRCm39) |
|
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,438,451 (GRCm39) |
I304M |
possibly damaging |
Het |
| Ripor2 |
G |
T |
13: 24,885,378 (GRCm39) |
E538* |
probably null |
Het |
| Sart1 |
G |
A |
19: 5,433,749 (GRCm39) |
R363* |
probably null |
Het |
| Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
| Spon2 |
C |
A |
5: 33,371,942 (GRCm39) |
C288F |
probably damaging |
Het |
| Tmprss11a |
G |
A |
5: 86,562,386 (GRCm39) |
R320C |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,643,282 (GRCm39) |
I22F |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,954,580 (GRCm39) |
F818L |
probably damaging |
Het |
| Vmn1r120 |
T |
G |
7: 20,787,063 (GRCm39) |
Q216P |
probably damaging |
Het |
| Vmn2r4 |
A |
C |
3: 64,305,840 (GRCm39) |
Y527* |
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,007,642 (GRCm39) |
Y125F |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation