Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02213:Dleu7'

284748

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dleu7

Ensembl Gene

ENSMUSG00000048281

Gene Name

deleted in lymphocytic leukemia, 7

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02213

Quality Score

Status

Chromosome

Chromosomal Location

62513678-62530428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62514404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 193 (V193M)

Ref Sequence

ENSEMBL: ENSMUSP00000060855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063169] [ENSMUST00000225120]

AlphaFold

Q8CHZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000063169
AA Change: V193M

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

SMART Domains

Protein: ENSMUSP00000060855
Gene: ENSMUSG00000048281
AA Change: V193M

Domain	Start	End	E-Value	Type
low complexity region	52	66	N/A	INTRINSIC
low complexity region	75	89	N/A	INTRINSIC
low complexity region	100	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000225120

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,523,254 (GRCm39)	R458C	probably damaging	Het
Aldh6a1	T	A	12: 84,479,326 (GRCm39)		probably benign	Het
Ankrd13a	C	T	5: 114,924,029 (GRCm39)	R42W	probably damaging	Het
Arhgef17	T	C	7: 100,539,633 (GRCm39)	M73V	probably benign	Het
Borcs6	A	G	11: 68,950,679 (GRCm39)	E19G	probably benign	Het
Cacna2d2	C	T	9: 107,391,247 (GRCm39)	R425C	probably damaging	Het
Cap2	T	A	13: 46,789,087 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,521,902 (GRCm39)	R374H	probably benign	Het
Cdk5rap2	A	G	4: 70,235,839 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,318,090 (GRCm39)	D357G	probably damaging	Het
Dmxl1	T	A	18: 50,010,741 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,272,752 (GRCm39)	F2293L	probably damaging	Het
Fgf22	G	T	10: 79,592,449 (GRCm39)	V75L	probably damaging	Het
Fras1	C	A	5: 96,793,730 (GRCm39)	C1017*	probably null	Het
Frmd3	A	C	4: 74,054,109 (GRCm39)	I173L	probably benign	Het
Fst	T	C	13: 114,592,390 (GRCm39)	N109S	possibly damaging	Het
Greb1	A	G	12: 16,756,233 (GRCm39)	L801P	probably damaging	Het
Ift88	A	G	14: 57,715,502 (GRCm39)	D515G	probably damaging	Het
Kcnh7	T	C	2: 62,569,706 (GRCm39)	D730G	probably damaging	Het
Mbd1	A	T	18: 74,408,453 (GRCm39)	I231F	probably damaging	Het
Mre11a	T	A	9: 14,723,180 (GRCm39)	F358I	probably damaging	Het
Mroh9	G	T	1: 162,885,648 (GRCm39)	T328K	probably damaging	Het
Nostrin	T	C	2: 69,014,262 (GRCm39)	L406P	probably benign	Het
Ntrk3	T	A	7: 78,112,679 (GRCm39)	Q159L	probably benign	Het
Oca2	T	C	7: 55,971,232 (GRCm39)		probably benign	Het
Or4k49	A	T	2: 111,495,020 (GRCm39)	T150S	probably benign	Het
Or51af1	T	A	7: 103,141,695 (GRCm39)	H130L	probably benign	Het
Or5p54	T	C	7: 107,554,511 (GRCm39)	I221T	probably damaging	Het
Pfdn4	C	T	2: 170,357,695 (GRCm39)	Q21*	probably null	Het
Pkd1l3	T	C	8: 110,357,977 (GRCm39)	F823S	probably damaging	Het
Rnf212	C	T	5: 108,895,276 (GRCm39)		probably benign	Het
Sbspon	T	C	1: 15,929,150 (GRCm39)	S214G	probably benign	Het
Slc12a7	T	C	13: 73,945,822 (GRCm39)		probably null	Het
Ugt3a1	A	T	15: 9,370,310 (GRCm39)	M485L	probably benign	Het
Vav1	T	C	17: 57,612,351 (GRCm39)	V561A	possibly damaging	Het
Vldlr	A	G	19: 27,218,726 (GRCm39)	T485A	probably benign	Het
Wiz	T	C	17: 32,586,834 (GRCm39)	T159A	probably benign	Het

Other mutations in Dleu7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R8699:Dleu7	UTSW	14	62,530,279 (GRCm39)	missense	probably benign	0.00
R9482:Dleu7	UTSW	14	62,514,351 (GRCm39)	makesense	probably null
R9628:Dleu7	UTSW	14	62,530,144 (GRCm39)	missense	possibly damaging	0.77

Posted On

2015-04-16