Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03004:Ddit4l'

407488

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddit4l

Ensembl Gene

ENSMUSG00000046818

Gene Name

DNA-damage-inducible transcript 4-like

Synonyms

REDD2, 1700037B15Rik, RTP801L, 1700108M02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL03004

Quality Score

Status

Chromosome

Chromosomal Location

137329433-137334093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137331966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 111 (N111D)

Ref Sequence

ENSEMBL: ENSMUSP00000058896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053855] [ENSMUST00000165845]

AlphaFold

Q8VHZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000053855
AA Change: N111D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000058896
Gene: ENSMUSG00000046818
AA Change: N111D

Domain	Start	End	E-Value	Type
Pfam:RTP801_C	65	183	1.4e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116680

Predicted Effect

probably benign
Transcript: ENSMUST00000165845

SMART Domains

Protein: ENSMUSP00000127567
Gene: ENSMUSG00000046818

Domain	Start	End	E-Value	Type
Pfam:RTP801_C	65	100	6.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167564

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atrx	A	T	X: 104,876,115 (GRCm39)	C78*	probably null	Het
Birc6	T	A	17: 74,919,180 (GRCm39)	N1999K	probably benign	Het
Bltp1	T	A	3: 37,019,826 (GRCm39)		probably benign	Het
Cdc42bpg	G	A	19: 6,361,413 (GRCm39)	R313Q	probably benign	Het
Clip3	A	G	7: 29,991,789 (GRCm39)	Y55C	probably damaging	Het
Eprs1	T	G	1: 185,114,030 (GRCm39)	M326R	probably damaging	Het
F8	C	T	X: 74,255,658 (GRCm39)	G2045D	probably damaging	Het
Fstl5	A	G	3: 76,555,738 (GRCm39)		probably benign	Het
Gm10577	T	C	4: 100,877,526 (GRCm39)		probably benign	Het
Heatr6	T	C	11: 83,648,205 (GRCm39)	S133P	probably benign	Het
Itpr3	T	G	17: 27,316,952 (GRCm39)	F736V	possibly damaging	Het
Klf8	T	C	X: 152,165,716 (GRCm39)	L95P	probably damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Map3k12	A	G	15: 102,412,631 (GRCm39)	V247A	possibly damaging	Het
Obscn	A	G	11: 58,919,413 (GRCm39)	Y6211H	probably damaging	Het
Or1j19	A	G	2: 36,677,194 (GRCm39)	Y219C	probably damaging	Het
Pip4k2b	A	G	11: 97,615,300 (GRCm39)	Y187H	probably damaging	Het
Rabggta	A	G	14: 55,956,687 (GRCm39)		probably benign	Het
Ranbp3	T	A	17: 57,014,207 (GRCm39)	V246E	probably damaging	Het
Rtf1	C	A	2: 119,531,754 (GRCm39)		probably benign	Het
Sema3b	G	A	9: 107,480,114 (GRCm39)	P208L	possibly damaging	Het
Smpd1	A	G	7: 105,205,881 (GRCm39)	D416G	possibly damaging	Het
Spam1	T	C	6: 24,796,913 (GRCm39)	V288A	probably damaging	Het
Stac	A	C	9: 111,431,608 (GRCm39)	S248A	probably benign	Het
Tmem178b	C	A	6: 40,222,515 (GRCm39)	R77S	probably damaging	Het
Vegfd	T	C	X: 163,185,104 (GRCm39)	L352P	probably benign	Het
Vmn1r176	A	T	7: 23,534,702 (GRCm39)	N150K	probably damaging	Het
Vmn1r230	T	C	17: 21,067,772 (GRCm39)		probably benign	Het
Vsig10	A	G	5: 117,463,140 (GRCm39)	Y122C	probably damaging	Het
Xpo5	T	A	17: 46,518,766 (GRCm39)	V121E	probably damaging	Het
Zrsr2	T	C	X: 162,722,397 (GRCm39)	Q285R	probably benign	Het

Other mutations in Ddit4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0265:Ddit4l	UTSW	3	137,330,048 (GRCm39)	splice site	probably benign
R0357:Ddit4l	UTSW	3	137,331,946 (GRCm39)	missense	probably benign	0.40
R1550:Ddit4l	UTSW	3	137,330,036 (GRCm39)	critical splice donor site	probably null
R6572:Ddit4l	UTSW	3	137,332,111 (GRCm39)	missense	probably benign	0.16
R6667:Ddit4l	UTSW	3	137,331,882 (GRCm39)	missense	probably benign	0.29
R7428:Ddit4l	UTSW	3	137,331,931 (GRCm39)	missense	probably damaging	1.00
R8364:Ddit4l	UTSW	3	137,329,996 (GRCm39)	nonsense	probably null
R8402:Ddit4l	UTSW	3	137,331,888 (GRCm39)	missense	probably damaging	1.00
Z1088:Ddit4l	UTSW	3	137,332,123 (GRCm39)	missense	probably benign	0.04

Posted On

2016-08-02