Mutagenetix > Incidental Mutation

Incidental Mutation 'R5035:Dbx1'

389499

Institutional Source

Beutler Lab

Gene Symbol

Dbx1

Ensembl Gene

ENSMUSG00000030507

Gene Name

developing brain homeobox 1

Synonyms

Mmox C, Dbx

MMRRC Submission

042626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49281247-49286583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49282284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 307 (H307R)

Ref Sequence

ENSEMBL: ENSMUSP00000032717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032717]

AlphaFold

P52950

Predicted Effect

unknown
Transcript: ENSMUST00000032717
AA Change: H307R

SMART Domains

Protein: ENSMUSP00000032717
Gene: ENSMUSG00000030507
AA Change: H307R

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
HOX	181	243	1.45e-23	SMART
low complexity region	299	331	N/A	INTRINSIC

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (46/47)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions of this gene die at birth. V0 interneurons develop as V1 or dl6 interneurons. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, other(6)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,494,810 (GRCm39)	I361V	probably benign	Het
Afp	A	G	5: 90,655,764 (GRCm39)	D583G	probably benign	Het
Bcas3	C	T	11: 85,434,771 (GRCm39)	A552V	probably damaging	Het
Bfsp2	T	G	9: 103,357,065 (GRCm39)	T121P	probably benign	Het
Bicra	C	T	7: 15,713,349 (GRCm39)	R951Q	possibly damaging	Het
Cdc40	G	A	10: 40,725,809 (GRCm39)	T220I	probably benign	Het
Cdk5rap3	T	C	11: 96,806,911 (GRCm39)		probably benign	Het
Clcnka	A	T	4: 141,122,469 (GRCm39)	Y179*	probably null	Het
Creb3l1	T	A	2: 91,817,431 (GRCm39)	I361F	probably benign	Het
Csmd3	T	C	15: 47,454,175 (GRCm39)	Y3557C	probably damaging	Het
Dab2ip	A	G	2: 35,599,953 (GRCm39)	S190G	probably benign	Het
Dock8	C	A	19: 25,063,571 (GRCm39)	P258T	probably damaging	Het
Eml6	T	C	11: 29,804,187 (GRCm39)	I305V	probably benign	Het
Frem3	T	A	8: 81,342,543 (GRCm39)	F1612Y	probably damaging	Het
Fubp1	A	G	3: 151,920,488 (GRCm39)	T76A	probably benign	Het
Glmp	G	C	3: 88,233,951 (GRCm39)		probably benign	Het
Gm20918	A	G	Y: 5,045,992 (GRCm39)	Q183R	probably benign	Het
Krt28	T	C	11: 99,257,650 (GRCm39)	N397S	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Map3k13	T	C	16: 21,740,421 (GRCm39)	Y583H	probably benign	Het
Mcm3	A	T	1: 20,873,642 (GRCm39)		probably benign	Het
Misp	T	C	10: 79,663,790 (GRCm39)	V588A	probably benign	Het
Or1j19	A	G	2: 36,676,903 (GRCm39)	D122G	probably damaging	Het
Or2z9	T	A	8: 72,853,922 (GRCm39)	L106H	probably damaging	Het
Or4c105	A	T	2: 88,648,443 (GRCm39)	K309N	probably benign	Het
Or51a43	G	A	7: 103,717,614 (GRCm39)	T208I	possibly damaging	Het
Or8g37	G	A	9: 39,731,390 (GRCm39)	A152T	possibly damaging	Het
Osbpl9	A	G	4: 108,923,364 (GRCm39)	F449L	probably damaging	Het
Pkhd1l1	A	G	15: 44,431,720 (GRCm39)	D3358G	probably damaging	Het
Prodh2	A	T	7: 30,205,904 (GRCm39)	S247C	possibly damaging	Het
Prr23a3	G	A	9: 98,747,183 (GRCm39)	E46K	possibly damaging	Het
Ptprz1	A	G	6: 23,016,214 (GRCm39)	I837V	probably benign	Het
Rabgap1l	A	C	1: 160,551,606 (GRCm39)	F263V	probably damaging	Het
Rnf4	A	G	5: 34,508,683 (GRCm39)	K182E	probably damaging	Het
Slc24a2	G	T	4: 86,929,943 (GRCm39)	R469S	possibly damaging	Het
Speer2	A	G	16: 69,654,829 (GRCm39)		probably null	Het
Tg	C	A	15: 66,553,662 (GRCm39)		probably null	Het
Tns1	G	A	1: 73,992,979 (GRCm39)		probably benign	Het
Top2b	G	T	14: 16,409,966 (GRCm38)	A878S	probably benign	Het
Trgc4	G	T	13: 19,536,506 (GRCm39)	R188L	unknown	Het
Ugt3a1	G	A	15: 9,361,704 (GRCm39)	R160Q	probably benign	Het
Ush2a	G	T	1: 188,643,005 (GRCm39)	L4122F	probably damaging	Het

Other mutations in Dbx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Dbx1	APN	7	49,286,222 (GRCm39)	missense	probably benign	0.22
IGL02795:Dbx1	APN	7	49,286,325 (GRCm39)	missense	probably benign	0.03
R0630:Dbx1	UTSW	7	49,282,444 (GRCm39)	missense	probably damaging	1.00
R3104:Dbx1	UTSW	7	49,286,417 (GRCm39)	missense	probably damaging	1.00
R3147:Dbx1	UTSW	7	49,286,297 (GRCm39)	missense	probably damaging	1.00
R4002:Dbx1	UTSW	7	49,286,265 (GRCm39)	missense	probably benign	0.01
R5077:Dbx1	UTSW	7	49,283,242 (GRCm39)	missense	probably damaging	1.00
R5689:Dbx1	UTSW	7	49,282,519 (GRCm39)	missense	probably damaging	1.00
R8054:Dbx1	UTSW	7	49,282,498 (GRCm39)	missense	probably damaging	1.00
R9601:Dbx1	UTSW	7	49,282,403 (GRCm39)	missense	probably damaging	1.00
X0066:Dbx1	UTSW	7	49,282,239 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCAGGATCCTGAACAGAGG -3'
(R):5'- ATCGACGCATGAAATGGCG -3'

Sequencing Primer
(F):5'- ATCCTGAACAGAGGTGGCCAC -3'
(R):5'- CGCATGAAATGGCGGAACTCC -3'

Posted On

2016-06-06