Mutagenetix > Incidental Mutation

Incidental Mutation 'R3419:Dmbx1'

266951

Institutional Source

Beutler Lab

Gene Symbol

Dmbx1

Ensembl Gene

ENSMUSG00000028707

Gene Name

diencephalon/mesencephalon homeobox 1

Synonyms

Mbx, Cdmx, Atx, Otx3, Dmbx1

MMRRC Submission

040637-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R3419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115772316-115797123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 115777873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 64 (R64G)

Ref Sequence

ENSEMBL: ENSMUSP00000120320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064806] [ENSMUST00000084338] [ENSMUST00000124071]

AlphaFold

Q91ZK4

Predicted Effect

probably benign
Transcript: ENSMUST00000064806
AA Change: R64G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: R64G

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
HOX	66	128	6.07e-26	SMART
low complexity region	172	187	N/A	INTRINSIC
low complexity region	235	256	N/A	INTRINSIC
low complexity region	284	295	N/A	INTRINSIC
low complexity region	330	348	N/A	INTRINSIC
Pfam:OAR	349	368	9.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084338
AA Change: R69G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: R69G

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
HOX	71	133	6.07e-26	SMART
low complexity region	177	192	N/A	INTRINSIC
low complexity region	240	261	N/A	INTRINSIC
low complexity region	289	300	N/A	INTRINSIC
low complexity region	335	353	N/A	INTRINSIC
Pfam:OAR	355	372	3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124071
AA Change: R64G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: R64G

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
HOX	66	128	6.07e-26	SMART
low complexity region	172	187	N/A	INTRINSIC
low complexity region	235	256	N/A	INTRINSIC
low complexity region	284	295	N/A	INTRINSIC
low complexity region	330	348	N/A	INTRINSIC
Pfam:OAR	349	368	9.2e-9	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele display partial postnatal lethality, impaired suckling and postnatal growth, and reduced female fertility. When raised in isolation, mice homozygous for another null allele exhibit decreased body weight, decreased food consumption, and small adipocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Ankrd26	A	G	6: 118,512,068 (GRCm39)	L518P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Baz1a	T	C	12: 54,993,684 (GRCm39)	K181E	probably benign	Het
Bend3	T	C	10: 43,385,978 (GRCm39)	S124P	probably damaging	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
Dpy19l2	T	C	9: 24,492,501 (GRCm39)	E699G	probably damaging	Het
Dync2i1	C	T	12: 116,188,597 (GRCm39)	V666I	probably benign	Het
Eef2k	T	A	7: 120,485,093 (GRCm39)	M320K	probably damaging	Het
Exoc5	A	T	14: 49,260,735 (GRCm39)	N377K	probably damaging	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fchsd2	T	A	7: 100,927,867 (GRCm39)		probably null	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gm17093	A	G	14: 44,759,047 (GRCm39)	I190V	unknown	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Hoxd10	A	G	2: 74,522,921 (GRCm39)	K200E	probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lacc1	T	G	14: 77,272,321 (GRCm39)	E158D	probably benign	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mapk6	T	C	9: 75,305,039 (GRCm39)	E126G	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Or2h1b	A	T	17: 37,462,242 (GRCm39)	V53E	probably damaging	Het
Or52e15	A	G	7: 104,645,727 (GRCm39)	I128T	probably damaging	Het
Or8g17	C	T	9: 38,930,372 (GRCm39)	C155Y	probably benign	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Paqr3	A	G	5: 97,247,559 (GRCm39)	L183P	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pik3r1	T	C	13: 101,828,723 (GRCm39)	D25G	probably benign	Het
Poc5	A	T	13: 96,540,925 (GRCm39)	T365S	possibly damaging	Het
Polr3a	A	G	14: 24,517,103 (GRCm39)	L716P	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,413 (GRCm39)	D500E	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Snrnp48	G	A	13: 38,405,335 (GRCm39)	D248N	possibly damaging	Het
St6galnac4	A	G	2: 32,485,743 (GRCm39)	T217A	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tmem30c	A	G	16: 57,098,031 (GRCm39)	V130A	probably benign	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Tulp2	T	A	7: 45,168,176 (GRCm39)	M196K	possibly damaging	Het
Unc5b	G	A	10: 60,614,593 (GRCm39)	R235W	probably damaging	Het
Vmn1r175	A	T	7: 23,508,075 (GRCm39)	M184K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het
Vmn2r9	A	C	5: 108,994,299 (GRCm39)	M450R	probably damaging	Het

Other mutations in Dmbx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Dmbx1	APN	4	115,777,203 (GRCm39)	missense	probably benign	0.00
IGL02850:Dmbx1	APN	4	115,775,204 (GRCm39)	missense	probably damaging	1.00
R0014:Dmbx1	UTSW	4	115,775,221 (GRCm39)	missense	probably damaging	0.99
R0014:Dmbx1	UTSW	4	115,775,221 (GRCm39)	missense	probably damaging	0.99
R0267:Dmbx1	UTSW	4	115,775,309 (GRCm39)	missense	probably benign	0.41
R1164:Dmbx1	UTSW	4	115,775,455 (GRCm39)	missense	probably damaging	1.00
R2567:Dmbx1	UTSW	4	115,777,489 (GRCm39)	missense	probably damaging	1.00
R5383:Dmbx1	UTSW	4	115,775,342 (GRCm39)	missense	probably damaging	1.00
R5882:Dmbx1	UTSW	4	115,777,498 (GRCm39)	missense	probably damaging	1.00
R5999:Dmbx1	UTSW	4	115,775,373 (GRCm39)	missense	probably damaging	0.98
R7064:Dmbx1	UTSW	4	115,775,465 (GRCm39)	missense	probably damaging	1.00
R7483:Dmbx1	UTSW	4	115,780,908 (GRCm39)	missense	probably damaging	1.00
R7829:Dmbx1	UTSW	4	115,781,104 (GRCm39)	intron	probably benign
R8548:Dmbx1	UTSW	4	115,777,512 (GRCm39)	missense	probably damaging	1.00
R9441:Dmbx1	UTSW	4	115,780,884 (GRCm39)	missense	probably damaging	1.00
R9744:Dmbx1	UTSW	4	115,777,262 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGGCTAGCACCTATCTGCAAG -3'
(R):5'- AATTTCCGATCCCAGCCAGTG -3'

Sequencing Primer
(F):5'- CACCTATCTGCAAGATACAGTTGGG -3'
(R):5'- GGATGGGTAATTTCCAAGGACC -3'

Posted On

2015-02-18