Mutagenetix > Incidental Mutation

Incidental Mutation 'R9744:Dmbx1'

731964

Institutional Source

Beutler Lab

Gene Symbol

Dmbx1

Ensembl Gene

ENSMUSG00000028707

Gene Name

diencephalon/mesencephalon homeobox 1

Synonyms

Mbx, Cdmx, Atx, Otx3, Dmbx1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R9744 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115772316-115797123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115777262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 200 (E200D)

Ref Sequence

ENSEMBL: ENSMUSP00000081366 (fasta)

Gene Model

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

AlphaFold

Q91ZK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000064806
AA Change: E195D

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

SMART Domains

Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: E195D

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 damaging
Transcript: ENSMUST00000084338
AA Change: E200D

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

SMART Domains

Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: E200D

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 damaging
Transcript: ENSMUST00000124071
AA Change: E195D

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

SMART Domains

Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: E195D

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,742,583 (GRCm39)	M677L	probably benign	Het
Ankrd24	T	G	10: 81,482,951 (GRCm39)	D966E	possibly damaging	Het
Arhgef28	A	G	13: 98,094,261 (GRCm39)	L961P	probably damaging	Het
Atxn1	G	A	13: 45,721,299 (GRCm39)	Q199*	probably null	Het
Bcl2a1c	G	A	9: 114,159,341 (GRCm39)	V40I	probably benign	Het
Cep41	A	G	6: 30,656,603 (GRCm39)	V283A	probably benign	Het
Cerk	A	G	15: 86,033,491 (GRCm39)	Y311H	probably damaging	Het
Ciz1	A	T	2: 32,253,859 (GRCm39)	Q13L	unknown	Het
Cpeb2	T	C	5: 43,391,268 (GRCm39)	S155P		Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Erc1	T	C	6: 119,720,360 (GRCm39)	Y747C	probably damaging	Het
Fhad1	T	C	4: 141,637,124 (GRCm39)	E1114G	probably damaging	Het
Fndc3a	C	A	14: 72,777,693 (GRCm39)	E1171*	probably null	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gys2	A	C	6: 142,394,187 (GRCm39)	D450E	probably benign	Het
Hmcn1	A	T	1: 150,623,941 (GRCm39)	I1120N	probably damaging	Het
Ints3	G	T	3: 90,318,605 (GRCm39)	T210K	probably damaging	Het
Itih5	T	C	2: 10,256,221 (GRCm39)	Y896H	probably damaging	Het
Kcna7	A	G	7: 45,056,402 (GRCm39)	D206G	probably benign	Het
Klhl10	T	A	11: 100,336,396 (GRCm39)	C128S	probably damaging	Het
Klhl5	T	C	5: 65,320,255 (GRCm39)	V603A	probably damaging	Het
Mapk15	T	A	15: 75,869,912 (GRCm39)	I344N	possibly damaging	Het
Mdn1	T	C	4: 32,715,711 (GRCm39)	F1993L	possibly damaging	Het
Myo1c	T	C	11: 75,562,797 (GRCm39)	L959P	probably damaging	Het
Nectin1	A	G	9: 43,715,240 (GRCm39)	Q492R	probably damaging	Het
Nlrp14	A	T	7: 106,796,987 (GRCm39)	L951F	probably damaging	Het
Nlrp5	T	G	7: 23,120,902 (GRCm39)	S705R	possibly damaging	Het
Nlrp9a	A	G	7: 26,267,266 (GRCm39)	Y787C	probably benign	Het
Npsr1	A	G	9: 24,201,182 (GRCm39)	T189A	probably benign	Het
Nup205	T	C	6: 35,209,510 (GRCm39)	Y1606H	probably damaging	Het
Or2w4	A	G	13: 21,795,827 (GRCm39)	F104S	possibly damaging	Het
Or4k48	C	A	2: 111,475,664 (GRCm39)	R226L	probably benign	Het
Or6z5	A	T	7: 6,477,210 (GRCm39)	I34L	probably benign	Het
Pitx2	A	T	3: 129,009,467 (GRCm39)	T129S	probably damaging	Het
Pla2g2c	T	C	4: 138,470,972 (GRCm39)	S118P	probably damaging	Het
Polr1a	A	G	6: 71,906,372 (GRCm39)	N396S	probably benign	Het
Prl	A	T	13: 27,248,338 (GRCm39)	Q135L	probably benign	Het
Prrc2c	A	G	1: 162,505,733 (GRCm39)	L2555P	possibly damaging	Het
Psg29	A	T	7: 16,944,495 (GRCm39)	D335V	probably benign	Het
Psme4	T	C	11: 30,765,294 (GRCm39)		probably null	Het
Ramp2	T	A	11: 101,137,913 (GRCm39)	S52T	unknown	Het
Skint6	C	T	4: 112,666,360 (GRCm39)	G1155D	probably damaging	Het
Sorcs1	G	A	19: 50,215,275 (GRCm39)	R655C	probably damaging	Het
Syne1	A	G	10: 5,274,184 (GRCm39)	C1867R	probably benign	Het
Tcf21	T	C	10: 22,695,726 (GRCm39)	D26G	probably benign	Het
Tmem132a	G	A	19: 10,840,678 (GRCm39)	P418L	probably damaging	Het
Tob1	C	T	11: 94,105,054 (GRCm39)	R197C	probably damaging	Het
Vmn2r110	A	G	17: 20,794,848 (GRCm39)	V607A	probably damaging	Het
Vmn2r30	A	G	7: 7,315,284 (GRCm39)	S850P	possibly 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
R3419:Dmbx1	UTSW	4	115,777,873 (GRCm39)	missense	probably benign	0.21
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

Predicted Primers

PCR Primer
(F):5'- ACTCAGAGTGCTGGATTTGGC -3'
(R):5'- TGCAGAAAGAGCAGCTCCAG -3'

Sequencing Primer
(F):5'- GGCCTTCTCTGACCTGTGG -3'
(R):5'- CTCCAGAAACAGAAGGAGGCC -3'

Posted On

2022-11-14