Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Dmbx1'

34984

Institutional Source

Beutler Lab

Gene Symbol

Dmbx1

Ensembl Gene

ENSMUSG00000028707

Gene Name

diencephalon/mesencephalon homeobox 1

Synonyms

Mbx, Cdmx, Atx, Otx3, Dmbx1

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115772316-115797123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115775309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 324 (A324T)

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: A324T

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: A324T

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: A329T

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: A329T

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: A324T

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: A324T

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

0.0668

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm39)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,401,238 (GRCm39)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Adrb1	A	T	19: 56,711,923 (GRCm39)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,562,233 (GRCm39)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,358,551 (GRCm39)		probably benign	Het
Alox15	T	A	11: 70,236,979 (GRCm39)	H393L	probably damaging	Het
Aox1	A	G	1: 58,378,605 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,288 (GRCm39)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,092,379 (GRCm39)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,418,540 (GRCm39)	D737V	probably damaging	Het
C9	T	C	15: 6,496,939 (GRCm39)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,255,107 (GRCm39)		probably benign	Het
Chst1	C	A	2: 92,443,951 (GRCm39)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,475 (GRCm39)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,923,454 (GRCm39)	H113Q	probably benign	Het
Dcn	A	T	10: 97,342,345 (GRCm39)		probably benign	Het
Dock10	G	T	1: 80,490,171 (GRCm39)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,710,921 (GRCm39)	E443G	probably benign	Het
Espl1	T	C	15: 102,221,452 (GRCm39)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,647,213 (GRCm39)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,432,365 (GRCm39)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 30,770,159 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,335,867 (GRCm39)	V189A	probably benign	Het
Gins4	T	C	8: 23,719,426 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,845,319 (GRCm39)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,366,839 (GRCm39)		probably benign	Het
Gtpbp3	T	C	8: 71,944,141 (GRCm39)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,155,455 (GRCm39)	Y331*	probably null	Het
Hsd11b1	A	T	1: 192,923,705 (GRCm39)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,017,701 (GRCm39)	I29T	probably benign	Het
Kctd16	T	A	18: 40,663,930 (GRCm39)	I353N	probably benign	Het
Lama4	G	T	10: 38,904,635 (GRCm39)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,093,040 (GRCm39)	M137L	probably benign	Het
Morc2a	T	C	11: 3,628,567 (GRCm39)	I340T	probably benign	Het
Myo7a	A	C	7: 97,703,831 (GRCm39)	I1969S	probably benign	Het
Or14a258	T	C	7: 86,035,475 (GRCm39)	E131G	possibly damaging	Het
Or5b116	T	A	19: 13,422,792 (GRCm39)	C139S	probably damaging	Het
Or6n1	A	G	1: 173,916,732 (GRCm39)	N42S	probably damaging	Het
Pclo	T	C	5: 14,731,194 (GRCm39)	L3232P	unknown	Het
Polr1a	T	G	6: 71,951,123 (GRCm39)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,656,722 (GRCm39)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,386,066 (GRCm39)	T280A	probably benign	Het
Rfx3	T	C	19: 27,771,188 (GRCm39)	D521G	probably benign	Het
Scn5a	C	T	9: 119,372,201 (GRCm39)	V223I	probably damaging	Het
Sgsm3	T	G	15: 80,890,803 (GRCm39)	M119R	probably damaging	Het
Slc6a7	T	A	18: 61,129,783 (GRCm39)	M608L	probably benign	Het
Slit2	A	G	5: 48,339,673 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,723,561 (GRCm39)	I440F	probably benign	Het
Syn2	T	G	6: 115,231,111 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,361,203 (GRCm39)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,333,426 (GRCm39)		probably benign	Het
Trpm6	C	A	19: 18,800,742 (GRCm39)	P819T	probably benign	Het
Ttn	G	A	2: 76,574,033 (GRCm39)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,459,553 (GRCm39)		probably null	Het
Vars1	T	C	17: 35,230,572 (GRCm39)		probably benign	Het
Vip	A	T	10: 5,594,004 (GRCm39)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps33b	T	C	7: 79,935,802 (GRCm39)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,753,300 (GRCm39)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,297,362 (GRCm39)	S237T	probably benign	Het
Zfp142	G	A	1: 74,615,223 (GRCm39)	A427V	probably benign	Het
Zfp692	T	A	11: 58,205,140 (GRCm39)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,670,322 (GRCm39)	I384N	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
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'- CATGGTTGGGTTAGAAGCCAGACAG -3'
(R):5'- CACTGCTTGATTCAGGGGATTGGAG -3'

Sequencing Primer
(F):5'- GCGAAGGTTTTCAATGCTCG -3'
(R):5'- AGTTCCGCCAGCATATGG -3'

Posted On

2013-05-09