Mutagenetix > Incidental Mutation

Incidental Mutation 'R0014:Dmbx1'

64866

Institutional Source

Beutler Lab

Gene Symbol

Dmbx1

Ensembl Gene

ENSMUSG00000028707

Gene Name

diencephalon/mesencephalon homeobox 1

Synonyms

Mbx, Cdmx, Atx, Otx3, Dmbx1

MMRRC Submission

038309-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R0014 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

115772316-115797123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115775221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 358 (T358K)

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: T353K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: T353K

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: T358K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: T358K

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: T353K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: T353K

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

Meta Mutation Damage Score

0.0656

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (68/68)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,791,581 (GRCm39)	D92V	probably damaging	Het
Ankrd52	C	A	10: 128,222,321 (GRCm39)	T583K	probably benign	Het
C3ar1	C	T	6: 122,827,810 (GRCm39)	V136M	probably damaging	Het
Capg	A	G	6: 72,538,026 (GRCm39)	E304G	possibly damaging	Het
Ccdc125	A	C	13: 100,820,846 (GRCm39)	N189T	possibly damaging	Het
Ccr5	T	C	9: 123,924,658 (GRCm39)	F87S	probably damaging	Het
Cd2ap	T	C	17: 43,118,819 (GRCm39)	S540G	probably benign	Het
Cdt1	C	T	8: 123,299,305 (GRCm39)	T529M	probably benign	Het
Cfap126	A	G	1: 170,953,353 (GRCm39)	D49G	possibly damaging	Het
Cngb3	T	C	4: 19,396,685 (GRCm39)	I346T	probably benign	Het
Degs1l	T	C	1: 180,882,696 (GRCm39)	F153L	possibly damaging	Het
Dgkd	A	G	1: 87,809,603 (GRCm39)	D97G	probably damaging	Het
Dgkg	A	T	16: 22,384,114 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,787,178 (GRCm39)		probably null	Het
Epc2	A	T	2: 49,412,537 (GRCm39)	K172*	probably null	Het
F2rl2	A	T	13: 95,837,417 (GRCm39)	N154I	probably damaging	Het
Fyttd1	G	A	16: 32,725,924 (GRCm39)	R175Q	probably damaging	Het
Gbp5	T	A	3: 142,212,496 (GRCm39)	C395S	probably damaging	Het
Gen1	T	C	12: 11,291,642 (GRCm39)	N716D	probably benign	Het
Helz2	A	G	2: 180,882,304 (GRCm39)	L163P	probably damaging	Het
Hmox2	T	A	16: 4,582,897 (GRCm39)	L210Q	probably damaging	Het
Klhl28	T	C	12: 65,004,076 (GRCm39)	T146A	probably benign	Het
Lrrk2	T	C	15: 91,686,248 (GRCm39)		probably benign	Het
Man2c1	T	A	9: 57,046,985 (GRCm39)	M580K	probably benign	Het
Neb	G	A	2: 52,177,168 (GRCm39)	A1391V	probably damaging	Het
Nyap2	T	C	1: 81,219,666 (GRCm39)	S563P	probably damaging	Het
Or2at4	T	C	7: 99,385,256 (GRCm39)	V302A	probably damaging	Het
Or4k51	A	G	2: 111,585,119 (GRCm39)	D175G	probably damaging	Het
Or55b3	A	G	7: 102,126,684 (GRCm39)	I131T	probably damaging	Het
P2rx5	T	A	11: 73,057,888 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,730,465 (GRCm39)		probably benign	Het
Pex1	G	A	5: 3,676,141 (GRCm39)		probably benign	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Psma8	A	G	18: 14,859,587 (GRCm39)	I86V	possibly damaging	Het
Ptpdc1	G	T	13: 48,740,395 (GRCm39)	Y345*	probably null	Het
Rcbtb1	G	T	14: 59,472,691 (GRCm39)	K493N	probably benign	Het
Rexo2	A	T	9: 48,385,747 (GRCm39)	S126T	probably benign	Het
Rorc	T	A	3: 94,284,920 (GRCm39)		probably benign	Het
Slc7a2	T	C	8: 41,364,065 (GRCm39)	L426P	probably damaging	Het
Syde1	T	C	10: 78,425,868 (GRCm39)	T100A	probably benign	Het
Tbc1d20	A	T	2: 152,153,701 (GRCm39)	Q342L	probably benign	Het
Thbs1	A	G	2: 117,943,831 (GRCm39)	T150A	possibly damaging	Het
Trpm1	A	G	7: 63,897,970 (GRCm39)	H317R	probably damaging	Het
Tut1	T	A	19: 8,939,811 (GRCm39)	L265Q	possibly damaging	Het
Wdfy4	A	G	14: 32,829,130 (GRCm39)	F1029L	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp458	A	G	13: 67,406,154 (GRCm39)	V95A	possibly damaging	Het
Zscan18	A	T	7: 12,503,344 (GRCm39)	F738L	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
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

Predicted Primers

PCR Primer
(F):5'- ATTCCACACTTCAACTTACTAACGGGG -3'
(R):5'- ACAACCTGATGCACTACTCGTCTTTTG -3'

Sequencing Primer
(F):5'- ATCCCTGGGCTCTCAAAGTTAG -3'
(R):5'- ACTACTCGTCTTTTGAAGTGGGC -3'

Posted On

2013-08-06