Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02850:Dmbx1'

361842

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmbx1

Ensembl Gene

ENSMUSG00000028707

Gene Name

diencephalon/mesencephalon homeobox 1

Synonyms

Mbx, Cdmx, Atx, Otx3, Dmbx1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

IGL02850

Quality Score

Status

Chromosome

Chromosomal Location

115772316-115797123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115775204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 359 (R359C)

Ref Sequence

ENSEMBL: ENSMUSP00000120320 (fasta)

Gene Model

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

AlphaFold

Q91ZK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000064806
AA Change: R359C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: R359C

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: R364C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: R364C

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: R359C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: R359C

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,843,993 (GRCm39)	Y229C	probably damaging	Het
Adgrd1	A	G	5: 129,192,119 (GRCm39)	D63G	probably damaging	Het
Ahnak	A	G	19: 8,979,960 (GRCm39)	T415A	probably benign	Het
Antxr2	A	G	5: 98,151,937 (GRCm39)	V178A	probably damaging	Het
Ap1s1	A	G	5: 137,070,634 (GRCm39)	Y127H	possibly damaging	Het
Bbs2	A	T	8: 94,803,710 (GRCm39)	M510K	probably benign	Het
Cbfa2t2	A	G	2: 154,377,090 (GRCm39)	N591S	probably damaging	Het
Chd6	T	A	2: 160,861,536 (GRCm39)	R504*	probably null	Het
Cnpy3	A	G	17: 47,054,217 (GRCm39)		probably benign	Het
Cntn2	T	G	1: 132,446,114 (GRCm39)	K824T	probably benign	Het
Cntnap3	T	C	13: 64,905,223 (GRCm39)	T853A	probably damaging	Het
Cog4	G	A	8: 111,593,221 (GRCm39)	G444D	possibly damaging	Het
Col18a1	A	T	10: 76,932,300 (GRCm39)	I510N	probably damaging	Het
Cxcr5	G	A	9: 44,425,403 (GRCm39)	R85W	probably damaging	Het
Cyth3	C	A	5: 143,672,259 (GRCm39)	T58K	probably damaging	Het
Dio3	T	C	12: 110,245,970 (GRCm39)	V102A	probably damaging	Het
Fam3d	C	T	14: 8,361,475 (GRCm38)		probably null	Het
Fras1	C	A	5: 96,926,034 (GRCm39)	P3746Q	probably damaging	Het
Glt1d1	T	A	5: 127,721,409 (GRCm39)	M32K	probably benign	Het
Hunk	A	G	16: 90,229,460 (GRCm39)	N31S	probably damaging	Het
Ints11	T	C	4: 155,959,761 (GRCm39)	S123P	probably benign	Het
Izumo2	T	C	7: 44,358,339 (GRCm39)	L58S	probably damaging	Het
Izumo4	A	G	10: 80,540,032 (GRCm39)		probably benign	Het
Kcnh7	T	A	2: 62,618,029 (GRCm39)	K487*	probably null	Het
Lrp12	T	C	15: 39,741,971 (GRCm39)	Y248C	probably damaging	Het
Maco1	T	C	4: 134,555,697 (GRCm39)	K259E	probably benign	Het
Map3k4	T	C	17: 12,490,801 (GRCm39)	D210G	probably damaging	Het
Mast4	T	C	13: 102,890,740 (GRCm39)	D1038G	probably damaging	Het
Noa1	T	C	5: 77,442,338 (GRCm39)	T651A	probably benign	Het
Nop2	A	C	6: 125,121,048 (GRCm39)	K610T	possibly damaging	Het
Nop2	G	T	6: 125,121,033 (GRCm39)	G605V	probably benign	Het
Npvf	G	A	6: 50,629,670 (GRCm39)	R107W	probably benign	Het
Or10ad1b	A	G	15: 98,125,232 (GRCm39)	V98A	probably benign	Het
Or2h2c	T	C	17: 37,422,865 (GRCm39)	N3S	probably benign	Het
Oxr1	A	G	15: 41,718,329 (GRCm39)	T775A	probably damaging	Het
P2ry13	C	T	3: 59,117,029 (GRCm39)	A250T	probably damaging	Het
Pcsk9	A	T	4: 106,316,062 (GRCm39)	V127E	probably damaging	Het
Piezo2	G	A	18: 63,153,704 (GRCm39)	S2547F	probably benign	Het
Pinx1	A	G	14: 64,156,609 (GRCm39)	T179A	probably damaging	Het
Pjvk	T	C	2: 76,488,795 (GRCm39)	V322A	possibly damaging	Het
Pla2r1	T	A	2: 60,332,413 (GRCm39)	R476S	probably benign	Het
Polb	A	G	8: 23,138,277 (GRCm39)		probably benign	Het
Polg2	C	T	11: 106,659,293 (GRCm39)	D407N	probably damaging	Het
Pou5f2	G	A	13: 78,173,178 (GRCm39)	R40Q	probably benign	Het
Sctr	T	C	1: 119,972,393 (GRCm39)	M193T	possibly damaging	Het
Sctr	T	A	1: 119,949,909 (GRCm39)	C33S	probably damaging	Het
Sema5b	T	C	16: 35,480,885 (GRCm39)	S819P	probably benign	Het
Setd1b	C	T	5: 123,286,652 (GRCm39)	T566I	unknown	Het
Sptbn4	G	A	7: 27,126,258 (GRCm39)	R222C	possibly damaging	Het
Taf5l	A	G	8: 124,730,197 (GRCm39)	V129A	possibly damaging	Het
Tmem163	C	T	1: 127,427,984 (GRCm39)	V201I	probably benign	Het
Ube3b	T	C	5: 114,544,310 (GRCm39)	L569P	probably damaging	Het
Vwa3a	A	G	7: 120,372,515 (GRCm39)	E301G	probably benign	Het
Wnk1	T	C	6: 119,914,823 (GRCm39)	I1660V	probably benign	Het
Zbtb22	T	A	17: 34,135,987 (GRCm39)	L44Q	probably damaging	Het
Zfp691	T	C	4: 119,027,389 (GRCm39)	D281G	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	probably benign	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
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
R9744:Dmbx1	UTSW	4	115,777,262 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18