Mutagenetix > Incidental Mutation

Incidental Mutation 'R3104:Dbx1'

262961

Institutional Source

Beutler Lab

Gene Symbol

Dbx1

Ensembl Gene

ENSMUSG00000030507

Gene Name

developing brain homeobox 1

Synonyms

Mmox C, Dbx

MMRRC Submission

040578-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49281247-49286583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49286417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 16 (L16H)

Ref Sequence

ENSEMBL: ENSMUSP00000032717 (fasta)

Gene Model

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

AlphaFold

P52950

Predicted Effect

probably damaging
Transcript: ENSMUST00000032717
AA Change: L16H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032717
Gene: ENSMUSG00000030507
AA Change: L16H

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

0.0761

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,961,693 (GRCm39)	V2355E	probably damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Bmp4	G	A	14: 46,623,438 (GRCm39)	A36V	probably benign	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Cdh9	T	C	15: 16,855,900 (GRCm39)	S647P	probably damaging	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Coch	A	G	12: 51,650,204 (GRCm39)	T398A	probably benign	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Csmd1	A	G	8: 17,077,247 (GRCm39)	Y137H	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Cyp19a1	T	C	9: 54,094,083 (GRCm39)	I60V	probably benign	Het
Cyp2c68	C	T	19: 39,722,757 (GRCm39)	V264I	probably benign	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dnah7c	T	A	1: 46,837,439 (GRCm39)	Y3951N	probably damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Fam124b	T	A	1: 80,190,748 (GRCm39)	I212F	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Gfpt1	A	G	6: 87,034,628 (GRCm39)	D142G	probably benign	Het
Gm5174	A	G	10: 86,492,519 (GRCm39)		noncoding transcript	Het
Gtf2ird2	G	A	5: 134,237,756 (GRCm39)	D278N	probably benign	Het
Herc2	T	A	7: 55,785,103 (GRCm39)	D1480E	probably benign	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Itpr2	A	T	6: 146,214,335 (GRCm39)		probably null	Het
Lgr6	A	G	1: 134,928,210 (GRCm39)		probably null	Het
Lmod2	A	C	6: 24,604,471 (GRCm39)	K482T	probably damaging	Het
Magi3	A	G	3: 103,958,636 (GRCm39)	V483A	probably damaging	Het
Ncam2	A	G	16: 81,262,598 (GRCm39)		probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or5t9	T	C	2: 86,660,035 (GRCm39)	M313T	probably benign	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,727 (GRCm39)	E667G	possibly damaging	Het
Plce1	C	T	19: 38,608,963 (GRCm39)	P424L	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Prkag2	T	A	5: 25,076,067 (GRCm39)	K233*	probably null	Het
Prune2	T	A	19: 17,096,520 (GRCm39)	S675T	probably damaging	Het
Sars1	C	T	3: 108,336,621 (GRCm39)	R302H	probably damaging	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Unc80	G	A	1: 66,662,450 (GRCm39)	V1768I	probably benign	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Usp29	T	A	7: 6,965,052 (GRCm39)	C298*	probably null	Het
Usp8	T	C	2: 126,600,432 (GRCm39)	V1050A	probably damaging	Het
Vmn1r38	T	C	6: 66,753,430 (GRCm39)	T229A	probably benign	Het
Yes1	T	C	5: 32,810,515 (GRCm39)	S195P	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
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
R5035:Dbx1	UTSW	7	49,282,284 (GRCm39)	missense	unknown
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'- TGGCATTCACCCCAAACTTC -3'
(R):5'- GGGCCACTATAAAACCATCTCCTG -3'

Sequencing Primer
(F):5'- ACTTCAGAAACGTGGGCTC -3'
(R):5'- ATCTCCTGGACCGGAGAGC -3'

Posted On

2015-02-05