Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02245:Dbx2'

286163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dbx2

Ensembl Gene

ENSMUSG00000045608

Gene Name

developing brain homeobox 2

Synonyms

LOC383001, 9430056A22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02245

Quality Score

Status

Chromosome

Chromosomal Location

95521444-95552838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95522628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 360 (Y360H)

Ref Sequence

ENSEMBL: ENSMUSP00000060424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054244]

AlphaFold

F8VQH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000054244
AA Change: Y360H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060424
Gene: ENSMUSG00000045608
AA Change: Y360H

Domain	Start	End	E-Value	Type
low complexity region	43	56	N/A	INTRINSIC
low complexity region	108	125	N/A	INTRINSIC
HOX	226	288	3.11e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229611

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,772 (GRCm39)	I1398V	probably benign	Het
Abca5	G	A	11: 110,188,995 (GRCm39)	Q821*	probably null	Het
Bcl9	A	T	3: 97,116,009 (GRCm39)	L895Q	probably damaging	Het
Cpne7	A	G	8: 123,844,357 (GRCm39)	D41G	probably damaging	Het
Daxx	A	G	17: 34,131,351 (GRCm39)		probably benign	Het
Dpy19l2	T	C	9: 24,607,321 (GRCm39)	T47A	probably benign	Het
Ephb3	T	C	16: 21,040,174 (GRCm39)	V512A	probably benign	Het
Exoc2	T	C	13: 31,090,842 (GRCm39)	D254G	probably benign	Het
Gtpbp1	G	T	15: 79,575,127 (GRCm39)	R7L	probably benign	Het
Gucy2c	A	T	6: 136,706,201 (GRCm39)	I500N	probably benign	Het
H2ac6	A	T	13: 23,867,783 (GRCm39)	Y40N	probably damaging	Het
H2ac6	G	T	13: 23,867,784 (GRCm39)	N39K	possibly damaging	Het
Hormad2	T	C	11: 4,358,580 (GRCm39)		probably benign	Het
Impg2	A	G	16: 56,089,445 (GRCm39)	Q1130R	probably damaging	Het
Itga4	T	A	2: 79,150,903 (GRCm39)	D836E	probably benign	Het
Loxhd1	A	T	18: 77,427,797 (GRCm39)	T456S	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Map1b	T	C	13: 99,568,036 (GRCm39)	T1562A	unknown	Het
Mre11a	C	T	9: 14,726,572 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,102,313 (GRCm39)	E868A	possibly damaging	Het
Nlrp4e	T	G	7: 23,020,300 (GRCm39)	S262R	probably damaging	Het
Nlrp9a	C	T	7: 26,257,318 (GRCm39)	T223I	probably benign	Het
Nosip	A	G	7: 44,723,466 (GRCm39)	D44G	probably benign	Het
Nr6a1	C	T	2: 38,630,565 (GRCm39)	M217I	probably benign	Het
Numa1	A	G	7: 101,649,601 (GRCm39)	T1111A	probably benign	Het
Or6c6c	T	A	10: 129,541,608 (GRCm39)	I287N	probably damaging	Het
Pms1	A	G	1: 53,246,519 (GRCm39)	L340P	probably damaging	Het
Prmt7	T	C	8: 106,963,937 (GRCm39)	V277A	probably benign	Het
Pxmp4	T	C	2: 154,429,870 (GRCm39)	Y173C	probably damaging	Het
Rbm11	G	T	16: 75,389,896 (GRCm39)	V21L	possibly damaging	Het
Rims1	A	G	1: 22,416,712 (GRCm39)	S1123P	probably damaging	Het
Rnf220	C	T	4: 117,156,734 (GRCm39)		probably benign	Het
Rnf41	T	G	10: 128,273,196 (GRCm39)	*123G	probably null	Het
Samhd1	C	T	2: 156,952,475 (GRCm39)	D426N	possibly damaging	Het
Scn10a	A	G	9: 119,501,218 (GRCm39)	W189R	probably damaging	Het
Slco1a6	A	G	6: 142,055,150 (GRCm39)	F265L	probably damaging	Het
Spag16	A	G	1: 69,897,661 (GRCm39)	D137G	probably benign	Het
Srsf12	G	A	4: 33,209,103 (GRCm39)		probably benign	Het
Suclg2	A	G	6: 95,572,722 (GRCm39)	I81T	possibly damaging	Het
Tmc1	C	T	19: 20,776,556 (GRCm39)	R601H	probably damaging	Het
Trim33	T	C	3: 103,254,086 (GRCm39)		probably null	Het
Vit	A	G	17: 78,932,480 (GRCm39)	D529G	probably damaging	Het
Wbp1l	C	T	19: 46,643,057 (GRCm39)	H353Y	possibly damaging	Het
Wdr70	A	T	15: 8,075,965 (GRCm39)	V170D	possibly damaging	Het
Ythdc2	T	A	18: 44,995,751 (GRCm39)	I947N	possibly damaging	Het
Zfp280b	T	C	10: 75,875,197 (GRCm39)	S359P	probably benign	Het
Zfp936	T	C	7: 42,836,722 (GRCm39)		probably null	Het
Zscan4d	T	A	7: 10,896,716 (GRCm39)	Y218F	probably benign	Het

Other mutations in Dbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02747:Dbx2	APN	15	95,530,320 (GRCm39)	missense	probably benign	0.06
R0610:Dbx2	UTSW	15	95,522,778 (GRCm39)	missense	probably benign	0.01
R0646:Dbx2	UTSW	15	95,552,493 (GRCm39)	missense	possibly damaging	0.53
R1411:Dbx2	UTSW	15	95,530,262 (GRCm39)	missense	probably damaging	0.98
R1770:Dbx2	UTSW	15	95,522,615 (GRCm39)	missense	probably benign	0.11
R1978:Dbx2	UTSW	15	95,530,234 (GRCm39)	missense	probably damaging	0.99
R2118:Dbx2	UTSW	15	95,522,681 (GRCm39)	missense	probably damaging	1.00
R2349:Dbx2	UTSW	15	95,522,840 (GRCm39)	missense	probably benign	0.06
R3899:Dbx2	UTSW	15	95,530,313 (GRCm39)	missense	possibly damaging	0.81
R5368:Dbx2	UTSW	15	95,538,522 (GRCm39)	missense	probably benign	0.09
R5734:Dbx2	UTSW	15	95,552,604 (GRCm39)	missense	possibly damaging	0.53
R6726:Dbx2	UTSW	15	95,522,741 (GRCm39)	missense	possibly damaging	0.64
R6843:Dbx2	UTSW	15	95,552,340 (GRCm39)	missense	possibly damaging	0.91
R7962:Dbx2	UTSW	15	95,552,199 (GRCm39)	missense	probably benign	0.36
R8490:Dbx2	UTSW	15	95,552,454 (GRCm39)	missense	possibly damaging	0.59
R8845:Dbx2	UTSW	15	95,552,517 (GRCm39)	missense	probably benign	0.01
R8865:Dbx2	UTSW	15	95,530,281 (GRCm39)	nonsense	probably null
R9069:Dbx2	UTSW	15	95,530,239 (GRCm39)	missense	probably damaging	1.00
R9525:Dbx2	UTSW	15	95,552,304 (GRCm39)	missense	probably benign	0.43

Posted On

2015-04-16