Mutagenetix > Incidental Mutation

Incidental Mutation 'R2027:Dbp'

220792

Institutional Source

Beutler Lab

Gene Symbol

Dbp

Ensembl Gene

ENSMUSG00000059824

Gene Name

D site albumin promoter binding protein

Synonyms

MMRRC Submission

040035-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R2027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45354658-45359579 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45357700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 89 (D89E)

Ref Sequence

ENSEMBL: ENSMUSP00000147355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003360] [ENSMUST00000072836] [ENSMUST00000080885] [ENSMUST00000107737] [ENSMUST00000211513] [ENSMUST00000211357] [ENSMUST00000210060] [ENSMUST00000211340]

AlphaFold

Q60925

Predicted Effect

probably benign
Transcript: ENSMUST00000003360

SMART Domains

Protein: ENSMUSP00000003360
Gene: ENSMUSG00000003273

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Carb_anhydrase	35	303	1.1e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072836

SMART Domains

Protein: ENSMUSP00000072615
Gene: ENSMUSG00000057342

Domain	Start	End	E-Value	Type
SCOP:d1epfa2	63	87	1e-2	SMART
DAGKc	147	284	4.49e-5	SMART
low complexity region	369	376	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
PDB:3VZB\|C	468	609	4e-25	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000080885
AA Change: D189E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079693
Gene: ENSMUSG00000059824
AA Change: D189E

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
low complexity region	71	98	N/A	INTRINSIC
low complexity region	127	171	N/A	INTRINSIC
BRLZ	253	317	5.17e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107737

SMART Domains

Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342

Domain	Start	End	E-Value	Type
SCOP:d1epfa2	63	87	1e-2	SMART
DAGKc	147	284	4.49e-5	SMART
low complexity region	369	376	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
PDB:3VZB\|C	468	609	4e-25	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000107740
AA Change: D89E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103369
Gene: ENSMUSG00000059824
AA Change: D89E

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
BRLZ	153	217	5.17e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107741
AA Change: D52E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103370
Gene: ENSMUSG00000059824
AA Change: D52E

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
BRLZ	116	180	5.17e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123587
AA Change: D391E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155439
AA Change: H130N

Predicted Effect

probably benign
Transcript: ENSMUST00000211513
AA Change: D52E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000211357
AA Change: D89E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211748

Predicted Effect

probably benign
Transcript: ENSMUST00000209796

Predicted Effect

probably benign
Transcript: ENSMUST00000210027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211259

Predicted Effect

probably benign
Transcript: ENSMUST00000210060

Predicted Effect

probably benign
Transcript: ENSMUST00000211340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210120

Meta Mutation Damage Score

0.0714

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the Par bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, Cyp2a4, and Cyp2a5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythym genes. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null mutation display a shortened circadian period and decreased acvtivity during the dark phase. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,502,254 (GRCm39)	V138A	possibly damaging	Het
Aatk	A	G	11: 119,900,143 (GRCm39)	S1291P	probably damaging	Het
Adgrv1	C	T	13: 81,743,301 (GRCm39)	V67M	probably damaging	Het
Apoa4	G	A	9: 46,154,298 (GRCm39)	V300M	probably damaging	Het
Bcl2a1d	A	T	9: 88,613,438 (GRCm39)	V112E	possibly damaging	Het
Bltp1	T	A	3: 37,102,110 (GRCm39)		probably benign	Het
Cabp2	T	A	19: 4,137,126 (GRCm39)	M166K	probably damaging	Het
Camsap1	A	G	2: 25,828,538 (GRCm39)	V1062A	possibly damaging	Het
Cap1	T	G	4: 122,756,686 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,385 (GRCm39)	Y141H	probably damaging	Het
Card11	T	C	5: 140,892,522 (GRCm39)	Y181C	probably damaging	Het
Ccdc107	T	C	4: 43,495,874 (GRCm39)	V259A	probably benign	Het
Ccn4	A	G	15: 66,789,258 (GRCm39)	E248G	possibly damaging	Het
Chd9	A	G	8: 91,634,619 (GRCm39)		probably benign	Het
Cibar1	T	A	4: 12,171,216 (GRCm39)	D79V	probably damaging	Het
Col12a1	T	C	9: 79,553,075 (GRCm39)		probably null	Het
Cuzd1	T	C	7: 130,921,820 (GRCm39)	T61A	possibly damaging	Het
Dhps	A	T	8: 85,799,240 (GRCm39)	N140Y	probably damaging	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dnah9	T	G	11: 65,846,164 (GRCm39)	N2958T	probably benign	Het
Dpp8	T	A	9: 64,986,056 (GRCm39)	Y849N	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Faxc	T	C	4: 21,958,439 (GRCm39)		probably benign	Het
Frem3	G	T	8: 81,421,966 (GRCm39)	C2122F	possibly damaging	Het
Gan	T	C	8: 117,914,238 (GRCm39)		probably null	Het
Gnl1	A	G	17: 36,293,850 (GRCm39)	N274D	probably benign	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Itpr1	C	A	6: 108,363,814 (GRCm39)	S812Y	possibly damaging	Het
Kbtbd3	C	T	9: 4,317,075 (GRCm39)		probably benign	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msantd5f6	A	G	4: 73,321,295 (GRCm39)	I154T	possibly damaging	Het
Myh11	A	G	16: 14,050,532 (GRCm39)	Y478H	probably damaging	Het
Myo7b	A	G	18: 32,118,013 (GRCm39)	V871A	probably benign	Het
Nckap1	A	T	2: 80,365,862 (GRCm39)	M466K	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k6	A	G	14: 50,475,406 (GRCm39)	I312T	probably benign	Het
Or52r1b	A	T	7: 102,690,731 (GRCm39)	H15L	probably benign	Het
Or5aq1b	T	A	2: 86,901,897 (GRCm39)	N194Y	possibly damaging	Het
Or5m13	A	C	2: 85,749,114 (GRCm39)	S282R	probably damaging	Het
Or9k2	A	G	10: 129,998,604 (GRCm39)	I197T	probably benign	Het
Or9s23	A	T	1: 92,501,489 (GRCm39)	T199S	probably damaging	Het
Otof	T	C	5: 30,578,358 (GRCm39)	T97A	probably benign	Het
Peli2	G	A	14: 48,493,602 (GRCm39)	E275K	probably benign	Het
Pik3c2a	T	C	7: 115,950,057 (GRCm39)	Y1320C	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Pramel5	A	G	4: 143,998,274 (GRCm39)	L323P	probably damaging	Het
Prr5	A	T	15: 84,585,580 (GRCm39)	R183W	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rabgef1	A	G	5: 130,237,620 (GRCm39)	D231G	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rc3h1	C	T	1: 160,782,507 (GRCm39)	P662L	probably benign	Het
Rpl7a-ps5	G	T	17: 58,146,090 (GRCm39)	Q47K	probably benign	Het
Sclt1	G	A	3: 41,685,323 (GRCm39)	T45I	probably benign	Het
Slc22a17	A	G	14: 55,145,543 (GRCm39)	I202T	probably damaging	Het
Slc25a13	A	G	6: 6,073,487 (GRCm39)	L457S	probably damaging	Het
Slc44a3	T	C	3: 121,257,059 (GRCm39)		probably benign	Het
Slc7a9	G	A	7: 35,153,562 (GRCm39)	V188M	probably damaging	Het
Spata31d1e	A	G	13: 59,890,401 (GRCm39)	M55T	possibly damaging	Het
Tmem161a	T	A	8: 70,630,170 (GRCm39)	F119I	probably damaging	Het
Tmem240	A	G	4: 155,819,892 (GRCm39)	D32G	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Uqcrc1	G	A	9: 108,776,083 (GRCm39)	V262M	probably benign	Het
Vmn1r87	G	A	7: 12,865,823 (GRCm39)	R155C	probably damaging	Het
Vmn2r100	A	T	17: 19,742,334 (GRCm39)	Q236L	probably benign	Het
Vmn2r97	T	A	17: 19,149,944 (GRCm39)	I444N	unknown	Het
Yif1a	A	T	19: 5,139,900 (GRCm39)	H115L	probably damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het

Other mutations in Dbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1329:Dbp	UTSW	7	45,357,752 (GRCm39)	missense	probably damaging	1.00
R1436:Dbp	UTSW	7	45,357,879 (GRCm39)	missense	probably damaging	1.00
R1907:Dbp	UTSW	7	45,357,744 (GRCm39)	missense	possibly damaging	0.74
R2025:Dbp	UTSW	7	45,357,700 (GRCm39)	missense	probably benign	0.16
R6753:Dbp	UTSW	7	45,357,828 (GRCm39)	missense	probably damaging	0.99
R7453:Dbp	UTSW	7	45,355,127 (GRCm39)	missense	probably benign	0.04
R7719:Dbp	UTSW	7	45,359,174 (GRCm39)	missense	probably damaging	1.00
R7814:Dbp	UTSW	7	45,356,414 (GRCm39)	missense	probably benign	0.00
R8708:Dbp	UTSW	7	45,359,225 (GRCm39)	missense	probably damaging	1.00
R9124:Dbp	UTSW	7	45,357,818 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAAGGCCAGTCATTTCTGCC -3'
(R):5'- AGGCACCTGGACTTTCCTTG -3'

Sequencing Primer
(F):5'- CAATGATAGAATTGCCTTCCGGTG -3'
(R):5'- CCTTGCCTTCTTCATGATTGGTTGAG -3'

Posted On

2014-08-25