Mutagenetix > Incidental Mutation

Incidental Mutation 'R0854:Ddt'

82660

Institutional Source

Beutler Lab

Gene Symbol

Ddt

Ensembl Gene

ENSMUSG00000001666

Gene Name

D-dopachrome tautomerase

Synonyms

MMRRC Submission

039033-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0854 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75607067-75609208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75607329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 54 (R54H)

Ref Sequence

ENSEMBL: ENSMUSP00000134561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001715] [ENSMUST00000001716] [ENSMUST00000172820] [ENSMUST00000173537]

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: R99H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000001716
Gene: ENSMUSG00000001666
AA Change: R99H

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: R54H

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134561
Gene: ENSMUSG00000001666
AA Change: R54H

Domain	Start	End	E-Value	Type
Pfam:MIF	1	71	3.3e-32	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000173512
AA Change: R237H

SMART Domains

Protein: ENSMUSP00000134112
Gene: ENSMUSG00000092360
AA Change: R237H

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

noncoding transcript
Transcript: ENSMUST00000174649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219818

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	A	11: 69,055,302 (GRCm39)		probably null	Het
Brox	T	G	1: 183,069,322 (GRCm39)	R128S	possibly damaging	Het
Cfap57	G	A	4: 118,419,069 (GRCm39)	T1153I	probably benign	Het
Epm2aip1	T	A	9: 111,101,567 (GRCm39)	L180*	probably null	Het
Fer1l6	A	G	15: 58,431,037 (GRCm39)	I231V	probably benign	Het
Gng7	A	G	10: 80,787,507 (GRCm39)	V52A	possibly damaging	Het
Hbb-bh2	T	C	7: 103,489,272 (GRCm39)	H93R	probably damaging	Het
Muc4	A	T	16: 32,599,329 (GRCm39)	H3292L	possibly damaging	Het
Mybpc2	T	C	7: 44,166,426 (GRCm39)	E188G	probably benign	Het
Myh4	T	C	11: 67,149,973 (GRCm39)	L1844P	possibly damaging	Het
Ncan	G	T	8: 70,565,202 (GRCm39)	R242S	probably damaging	Het
Nceh1	T	A	3: 27,295,468 (GRCm39)	L243Q	probably damaging	Het
Notch4	T	A	17: 34,787,546 (GRCm39)	S369T	probably damaging	Het
P3h3	G	T	6: 124,831,896 (GRCm39)	D296E	probably benign	Het
Pask	T	A	1: 93,255,122 (GRCm39)	K316M	probably damaging	Het
Pask	T	A	1: 93,255,156 (GRCm39)	T305S	possibly damaging	Het
Pask	T	C	1: 93,255,134 (GRCm39)	K312R	probably damaging	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Sec24c	A	G	14: 20,739,408 (GRCm39)	Y40C	probably damaging	Het
Sema6d	C	T	2: 124,507,222 (GRCm39)	T1010M	probably damaging	Het
Thsd1	G	A	8: 22,748,587 (GRCm39)	G433E	probably damaging	Het
Tnfsf18	T	A	1: 161,331,237 (GRCm39)	I129N	probably damaging	Het
Tsc22d1	C	T	14: 76,655,641 (GRCm39)	Q625*	probably null	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn2r58	T	G	7: 41,486,562 (GRCm39)	N778H	probably damaging	Het
Wdr17	C	T	8: 55,156,916 (GRCm39)	V7I	probably benign	Het
Zranb1	T	C	7: 132,551,577 (GRCm39)	V102A	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
R1853:Ddt	UTSW	10	75,609,138 (GRCm39)	missense	possibly damaging	0.79
R3107:Ddt	UTSW	10	75,608,597 (GRCm39)	missense	probably benign	0.00
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'- AATGGACCACTGAAGTCGCAGACG -3'
(R):5'- GCACAGAGCACAGGTATTGAAGCC -3'

Sequencing Primer
(F):5'- CGTTTAGGCAAAAGAGGGATTTACC -3'
(R):5'- CACAGGTATTGAAGCCATTGC -3'

Posted On

2013-11-08