Mutagenetix > Incidental Mutation

Incidental Mutation 'R1164:Dmbx1'

100790

Institutional Source

Beutler Lab

Gene Symbol

Dmbx1

Ensembl Gene

ENSMUSG00000028707

Gene Name

diencephalon/mesencephalon homeobox 1

Synonyms

Mbx, Cdmx, Atx, Otx3, Dmbx1

MMRRC Submission

039237-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R1164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115772316-115797123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115775455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 275 (H275L)

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: H275L

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

SMART Domains

Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: H275L

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: H280L

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

SMART Domains

Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: H280L

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: H275L

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

SMART Domains

Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: H275L

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: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,305 (GRCm39)	M1055K	probably damaging	Het
Adprh	A	T	16: 38,270,702 (GRCm39)	D34E	probably benign	Het
Aldh1a1	A	T	19: 20,595,310 (GRCm39)	M80L	probably benign	Het
Arap2	T	A	5: 62,840,820 (GRCm39)	D682V	probably damaging	Het
Atp4a	T	A	7: 30,417,117 (GRCm39)	L500Q	probably benign	Het
Atp6v1c2	T	C	12: 17,358,317 (GRCm39)	E10G	probably damaging	Het
B4galt2	G	A	4: 117,734,141 (GRCm39)	R299W	possibly damaging	Het
Bltp3a	T	C	17: 28,114,354 (GRCm39)		probably null	Het
Brinp1	A	C	4: 68,716,928 (GRCm39)	S307A	probably benign	Het
Cacna2d1	G	A	5: 16,566,874 (GRCm39)		probably null	Het
Ccdc3	T	C	2: 5,146,077 (GRCm39)	V137A	possibly damaging	Het
Ccnb1ip1	T	C	14: 51,029,594 (GRCm39)	K156R	possibly damaging	Het
Cfap77	A	T	2: 28,852,700 (GRCm39)	W191R	probably damaging	Het
Chga	A	G	12: 102,529,304 (GRCm39)	E427G	probably damaging	Het
Chrnd	A	T	1: 87,120,267 (GRCm39)	Y32F	probably benign	Het
Cks1b	C	A	3: 89,323,249 (GRCm39)		probably benign	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dip2a	C	A	10: 76,112,231 (GRCm39)	R1098L	possibly damaging	Het
Dmrt2	A	G	19: 25,655,357 (GRCm39)	M319V	possibly damaging	Het
Dock8	A	G	19: 25,067,391 (GRCm39)	Y345C	probably benign	Het
Dpp6	A	G	5: 27,926,103 (GRCm39)	T668A	probably benign	Het
Eef1d	A	G	15: 75,774,526 (GRCm39)		probably null	Het
Epb41l3	A	G	17: 69,581,762 (GRCm39)	T568A	possibly damaging	Het
Erc2	A	G	14: 28,024,929 (GRCm39)	R603G	probably damaging	Het
Fam83d	T	C	2: 158,625,170 (GRCm39)	S254P	probably damaging	Het
Fcgr4	A	T	1: 170,856,739 (GRCm39)	H202L	possibly damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Kmo	A	G	1: 175,486,125 (GRCm39)	H416R	probably benign	Het
Lao1	A	G	4: 118,822,602 (GRCm39)	N174S	probably benign	Het
Lrwd1	A	T	5: 136,159,844 (GRCm39)	H406Q	probably benign	Het
Magoh	A	G	4: 107,744,459 (GRCm39)	I143V	probably benign	Het
Mpz	A	G	1: 170,986,008 (GRCm39)	H49R	possibly damaging	Het
Nav1	T	C	1: 135,400,148 (GRCm39)	N474S	probably benign	Het
Ndufb10	T	G	17: 24,941,757 (GRCm39)	E68D	probably benign	Het
Obscn	T	C	11: 58,926,913 (GRCm39)	D5534G	possibly damaging	Het
Or13c7d	T	C	4: 43,770,991 (GRCm39)	T7A	probably benign	Het
Or14j5	T	A	17: 38,161,575 (GRCm39)	F31I	probably damaging	Het
Or1j16	A	T	2: 36,530,132 (GRCm39)	Y27F	probably benign	Het
Or4d10	A	T	19: 12,051,605 (GRCm39)	Y130*	probably null	Het
Or52l1	A	T	7: 104,830,040 (GRCm39)	F160Y	probably benign	Het
Or8k30	C	A	2: 86,339,028 (GRCm39)	T75K	probably damaging	Het
Padi1	A	T	4: 140,559,640 (GRCm39)	V79E	possibly damaging	Het
Pdha2	A	G	3: 140,917,260 (GRCm39)	Y83H	probably damaging	Het
Phpt1	A	G	2: 25,464,727 (GRCm39)	I42T	probably damaging	Het
Pot1b	A	C	17: 55,981,085 (GRCm39)	S310A	probably benign	Het
Ptpn13	G	A	5: 103,637,639 (GRCm39)	V176I	probably damaging	Het
Ptprf	A	G	4: 118,114,689 (GRCm39)	S189P	probably damaging	Het
Rere	A	T	4: 150,619,341 (GRCm39)	Q381L	unknown	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Scn8a	G	A	15: 100,938,043 (GRCm39)	C1804Y	probably benign	Het
Sema3c	G	A	5: 17,883,312 (GRCm39)	D307N	probably benign	Het
Siah2	T	C	3: 58,583,737 (GRCm39)	E183G	probably benign	Het
Smarca5	G	A	8: 81,437,260 (GRCm39)	L699F	probably damaging	Het
Smo	T	A	6: 29,754,718 (GRCm39)	S263T	probably benign	Het
Sox2	A	G	3: 34,704,848 (GRCm39)	E95G	probably damaging	Het
T	T	C	17: 8,658,771 (GRCm39)	S171P	probably benign	Het
Tmc7	G	T	7: 118,141,247 (GRCm39)	A628D	probably benign	Het
Tmem45a2	A	G	16: 56,869,789 (GRCm39)	S52P	probably damaging	Het
Tubb3	C	T	8: 124,148,186 (GRCm39)	A373V	probably damaging	Het
Upp2	A	G	2: 58,653,716 (GRCm39)	Y69C	probably damaging	Het
Utp4	A	G	8: 107,627,476 (GRCm39)		probably null	Het
Vmn1r59	T	A	7: 5,457,410 (GRCm39)	M117L	probably benign	Het
Xkr8	T	C	4: 132,459,722 (GRCm39)	S19G	probably benign	Het
Zbed6	G	A	1: 133,586,941 (GRCm39)	T132I	probably damaging	Het
Zbtb24	T	C	10: 41,340,523 (GRCm39)	Y518H	probably damaging	Het
Zfp324	T	C	7: 12,705,551 (GRCm39)	I580T	probably benign	Het
Zfp995	G	A	17: 22,098,960 (GRCm39)	H425Y	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
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

Predicted Primers

Posted On

2014-01-15