Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:Dbx2'

306088

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

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

95623563-95655960 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95632439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 216 (T216A)

Ref Sequence

ENSEMBL: ENSMUSP00000060424 (fasta)

Gene Model

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

AlphaFold

F8VQH7

Predicted Effect

probably benign
Transcript: ENSMUST00000054244
AA Change: T216A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000060424
Gene: ENSMUSG00000045608
AA Change: T216A

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,282	L3373*	probably null	Het
Ap1s3	T	C	1: 79,623,692	Y94C	probably damaging	Het
BC048403	A	C	10: 121,745,550	Q152P	possibly damaging	Het
Dsg4	A	G	18: 20,446,938	R67G	probably damaging	Het
Eng	G	A	2: 32,672,958		probably null	Het
Gm28042	T	A	2: 120,031,394	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,893,871	M276I	probably benign	Het
Itih2	A	G	2: 10,097,945	S793P	probably benign	Het
Kcnj13	T	C	1: 87,389,365	N9D	probably benign	Het
Krt78	T	A	15: 101,950,384		probably benign	Het
Megf10	A	G	18: 57,290,493	K985E	probably benign	Het
Naa25	A	G	5: 121,414,605		probably benign	Het
Olfr918	T	C	9: 38,673,084	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,634,272	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,174,073	K301E	probably benign	Het
Ralgds	T	C	2: 28,548,110		probably benign	Het
Rccd1	A	T	7: 80,320,490	D126E	probably benign	Het
Reps1	T	C	10: 18,123,600	S712P	probably damaging	Het
Rnf103	T	A	6: 71,509,177	I264N	probably damaging	Het
Rpap1	A	G	2: 119,774,128	I433T	probably damaging	Het
Ryr2	T	G	13: 11,655,677	N3478H	probably damaging	Het
Sox30	A	G	11: 45,980,945	D209G	probably benign	Het
Sox6	A	G	7: 115,489,746	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,860,460	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,802,879	V398A	probably benign	Het
Tmem135	A	T	7: 89,144,670	I388N	probably damaging	Het
Tpgs2	A	G	18: 25,139,145		probably benign	Het
Vmn2r120	G	A	17: 57,524,719	H357Y	probably benign	Het

Other mutations in Dbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02245:Dbx2	APN	15	95624747	missense	probably damaging	1.00
R0610:Dbx2	UTSW	15	95624897	missense	probably benign	0.01
R0646:Dbx2	UTSW	15	95654612	missense	possibly damaging	0.53
R1411:Dbx2	UTSW	15	95632381	missense	probably damaging	0.98
R1770:Dbx2	UTSW	15	95624734	missense	probably benign	0.11
R1978:Dbx2	UTSW	15	95632353	missense	probably damaging	0.99
R2118:Dbx2	UTSW	15	95624800	missense	probably damaging	1.00
R2349:Dbx2	UTSW	15	95624959	missense	probably benign	0.06
R3899:Dbx2	UTSW	15	95632432	missense	possibly damaging	0.81
R5368:Dbx2	UTSW	15	95640641	missense	probably benign	0.09
R5734:Dbx2	UTSW	15	95654723	missense	possibly damaging	0.53
R6726:Dbx2	UTSW	15	95624860	missense	possibly damaging	0.64
R6843:Dbx2	UTSW	15	95654459	missense	possibly damaging	0.91
R7962:Dbx2	UTSW	15	95654318	missense	probably benign	0.36
R8490:Dbx2	UTSW	15	95654573	missense	possibly damaging	0.59
R8845:Dbx2	UTSW	15	95654636	missense	probably benign	0.01
R8865:Dbx2	UTSW	15	95632400	nonsense	probably null
R9069:Dbx2	UTSW	15	95632358	missense	probably damaging	1.00
R9525:Dbx2	UTSW	15	95654423	missense	probably benign	0.43

Posted On

2015-04-16