Incidental Mutation 'R9240:Dpysl3'
| ID |
700718 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
43454049-43571351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43487867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 159
(V159I)
|
| 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: V161I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000025379
Gene: ENSMUSG00000024501
AA Change: V161I
| 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: V159I
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113711
Gene: ENSMUSG00000024501
AA Change: V159I
| 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: V274I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112928
Gene: ENSMUSG00000024501
AA Change: V274I
| 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 |
0.2420 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.6%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,966,406 (GRCm39) |
I187V |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,747,208 (GRCm39) |
V584L |
probably benign |
Het |
| Arsg |
T |
A |
11: 109,463,093 (GRCm39) |
V451E |
probably benign |
Het |
| Btbd8 |
A |
G |
5: 107,600,034 (GRCm39) |
D175G |
probably benign |
Het |
| Cacnb3 |
C |
T |
15: 98,540,486 (GRCm39) |
P338L |
probably benign |
Het |
| Cars1 |
G |
T |
7: 143,138,533 (GRCm39) |
P218Q |
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,917,566 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
C |
T |
10: 60,215,044 (GRCm39) |
D1431N |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,389,167 (GRCm39) |
V1555D |
probably benign |
Het |
| Creb3l2 |
T |
C |
6: 37,311,506 (GRCm39) |
N428D |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,917,537 (GRCm39) |
|
probably null |
Het |
| Cstf1 |
C |
A |
2: 172,217,669 (GRCm39) |
P94Q |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,447 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
T |
8: 37,052,005 (GRCm39) |
D124E |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,776,824 (GRCm39) |
I5S |
probably benign |
Het |
| F7 |
A |
T |
8: 13,085,173 (GRCm39) |
T400S |
probably damaging |
Het |
| Fbxo38 |
C |
A |
18: 62,651,632 (GRCm39) |
E558* |
probably null |
Het |
| Fcgr2b |
C |
T |
1: 170,797,042 (GRCm39) |
|
probably null |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,618,676 (GRCm39) |
N220D |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,812 (GRCm39) |
Y358H |
probably damaging |
Het |
| Gcc2 |
C |
T |
10: 58,106,398 (GRCm39) |
Q545* |
probably null |
Het |
| Gkn3 |
T |
C |
6: 87,365,789 (GRCm39) |
N10S |
probably benign |
Het |
| Gls |
C |
G |
1: 52,207,553 (GRCm39) |
V604L |
probably benign |
Het |
| Gtf2i |
T |
A |
5: 134,292,619 (GRCm39) |
Q375L |
probably benign |
Het |
| Hells |
A |
G |
19: 38,935,289 (GRCm39) |
M320V |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,310,410 (GRCm39) |
S497G |
possibly damaging |
Het |
| Iqub |
C |
A |
6: 24,505,622 (GRCm39) |
L95F |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,827,573 (GRCm39) |
C9Y |
probably benign |
Het |
| Mfsd4b5 |
A |
G |
10: 39,851,099 (GRCm39) |
L103P |
probably damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,864 (GRCm39) |
I231M |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,449,309 (GRCm39) |
T7580A |
unknown |
Het |
| Myb |
A |
T |
10: 21,016,500 (GRCm39) |
L670Q |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,906,988 (GRCm39) |
L236P |
unknown |
Het |
| Or5d38 |
A |
C |
2: 87,955,231 (GRCm39) |
F33V |
probably benign |
Het |
| Plscr4 |
A |
T |
9: 92,366,934 (GRCm39) |
M183L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,940,661 (GRCm39) |
C998* |
probably null |
Het |
| Prokr2 |
A |
T |
2: 132,223,377 (GRCm39) |
V55E |
possibly damaging |
Het |
| Prr12 |
A |
T |
7: 44,684,075 (GRCm39) |
V1655E |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Rspo1 |
C |
T |
4: 124,885,132 (GRCm39) |
L3F |
probably benign |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,082 (GRCm39) |
D171E |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,743,313 (GRCm39) |
F3895L |
probably damaging |
Het |
| Scn8a |
G |
T |
15: 100,915,068 (GRCm39) |
G1211* |
probably null |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smarcd3 |
T |
A |
5: 24,801,831 (GRCm39) |
M103L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,739,031 (GRCm39) |
S3458T |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,825,884 (GRCm39) |
R738W |
probably damaging |
Het |
| Spef2 |
G |
A |
15: 9,578,401 (GRCm39) |
Q1708* |
probably null |
Het |
| Taf2 |
A |
T |
15: 54,926,464 (GRCm39) |
V162E |
probably null |
Het |
| Tbc1d23 |
A |
T |
16: 57,032,748 (GRCm39) |
N154K |
possibly damaging |
Het |
| Tbx3 |
A |
G |
5: 119,818,960 (GRCm39) |
S532G |
probably benign |
Het |
| Tedc1 |
T |
C |
12: 113,121,310 (GRCm39) |
I177T |
probably benign |
Het |
| Tnrc6b |
G |
C |
15: 80,764,262 (GRCm39) |
G588A |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,901,368 (GRCm39) |
K519* |
probably null |
Het |
| Trim47 |
T |
A |
11: 115,999,148 (GRCm39) |
M243L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,865 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
T |
C |
1: 36,221,696 (GRCm39) |
E624G |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,996,099 (GRCm39) |
V183A |
possibly damaging |
Het |
| Zfp212 |
T |
A |
6: 47,906,032 (GRCm39) |
V197E |
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 |
|
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 |
|
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'- AGGTCTTCAATATACAACCTGGC -3'
(R):5'- AGGGAGACACCATTCTGTCAAG -3'
Sequencing Primer
(F):5'- TGGCACAGTGACCTCCCAC -3'
(R):5'- CACCATTCTGTCAAGACACTATTTAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation