Incidental Mutation 'R3107:Ddt'
| ID |
263629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddt
|
| Ensembl Gene |
ENSMUSG00000001666 |
| Gene Name |
D-dopachrome tautomerase |
| Synonyms |
|
| MMRRC Submission |
040581-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75607067-75609208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75608597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 42
(E42K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001715]
[ENSMUST00000001716]
[ENSMUST00000172820]
[ENSMUST00000173537]
[ENSMUST00000174187]
|
| AlphaFold |
O35215 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001715
|
| SMART Domains |
Protein: ENSMUSP00000001715
Gene: ENSMUSG00000001665
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
76 |
2.2e-13 |
PFAM |
|
Pfam:GST_N_3
|
5 |
82 |
2.4e-13 |
PFAM |
|
Pfam:GST_N_2
|
11 |
77 |
6.2e-10 |
PFAM |
|
Pfam:GST_C
|
111 |
201 |
5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001716
AA Change: E87K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001716
Gene: ENSMUSG00000001666
AA Change: E87K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIF
|
2 |
116 |
8.5e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133869
|
| SMART Domains |
Protein: ENSMUSP00000134134
Gene: ENSMUSG00000001665
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2C3T|D
|
2 |
100 |
3e-52 |
PDB |
|
SCOP:d1ljra1
|
6 |
107 |
4e-14 |
SMART |
|
low complexity region
|
118 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172820
AA Change: E42K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134561
Gene: ENSMUSG00000001666
AA Change: E42K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIF
|
1 |
71 |
3.3e-32 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173512
AA Change: E225K
|
| SMART Domains |
Protein: ENSMUSP00000134112
Gene: ENSMUSG00000092360
AA Change: E225K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
2 |
75 |
3.2e-13 |
PFAM |
|
Pfam:GST_N_3
|
4 |
81 |
2.6e-13 |
PFAM |
|
Pfam:GST_N_2
|
10 |
76 |
6.7e-10 |
PFAM |
|
Pfam:MIF
|
159 |
252 |
8.5e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173537
|
| SMART Domains |
Protein: ENSMUSP00000133498
Gene: ENSMUSG00000001665
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
76 |
5e-12 |
PFAM |
|
Pfam:GST_N_3
|
5 |
82 |
1.2e-13 |
PFAM |
|
Pfam:GST_N_2
|
11 |
77 |
6.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174187
|
| SMART Domains |
Protein: ENSMUSP00000133576
Gene: ENSMUSG00000001665
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2C3T|D
|
1 |
38 |
7e-16 |
PDB |
|
SCOP:d1ljra2
|
1 |
38 |
6e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174649
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,911,652 (GRCm39) |
S607P |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
| Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
| Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
| Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam114a2 |
C |
A |
11: 57,390,561 (GRCm39) |
K317N |
probably benign |
Het |
| Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
| Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,998,041 (GRCm39) |
T23A |
possibly damaging |
Het |
| Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
| Mov10 |
T |
C |
3: 104,707,040 (GRCm39) |
E653G |
probably damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
| Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,687,906 (GRCm39) |
Q11K |
probably benign |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
| Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
possibly damaging |
Het |
|
| Other mutations in Ddt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0206:Ddt
|
UTSW |
10 |
75,608,719 (GRCm39) |
start codon destroyed |
probably null |
0.17 |
|
R0854:Ddt
|
UTSW |
10 |
75,607,329 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1853:Ddt
|
UTSW |
10 |
75,609,138 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7552:Ddt
|
UTSW |
10 |
75,609,048 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7869:Ddt
|
UTSW |
10 |
75,609,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Ddt
|
UTSW |
10 |
75,609,063 (GRCm39) |
missense |
probably benign |
|
|
R9438:Ddt
|
UTSW |
10 |
75,607,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9447:Ddt
|
UTSW |
10 |
75,608,671 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCAGTGCCTGAGGAGTC -3'
(R):5'- TTAAGAATTTGGCGCGCCC -3'
Sequencing Primer
(F):5'- TGAGGAGTCCACCTTCGTG -3'
(R):5'- TGCCCAAGCTTCAGGATTTAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation