Mutagenetix > Incidental Mutation

Incidental Mutation 'R0094:Dcdc2b'

262055

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2b

Ensembl Gene

ENSMUSG00000078552

Gene Name

doublecortin domain containing 2b

Synonyms

Gm12964, LOC384062

MMRRC Submission

038380-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0094 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

129502124-129508050 bp(-) (GRCm39)

Type of Mutation

splice site (4815 bp from exon)

DNA Base Change (assembly)

T to C at 129504104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046675] [ENSMUST00000102591] [ENSMUST00000106037] [ENSMUST00000129515] [ENSMUST00000135628] [ENSMUST00000137090] [ENSMUST00000179209] [ENSMUST00000179209] [ENSMUST00000174073] [ENSMUST00000174819] [ENSMUST00000173937] [ENSMUST00000173758] [ENSMUST00000150110] [ENSMUST00000181579] [ENSMUST00000172774] [ENSMUST00000152126] [ENSMUST00000151969]

AlphaFold

J3KML0

Predicted Effect

probably null
Transcript: ENSMUST00000046675

SMART Domains

Protein: ENSMUSP00000040584
Gene: ENSMUSG00000040795

Domain	Start	End	E-Value	Type
IQ	5	27	6.6e-2	SMART
low complexity region	150	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102591

SMART Domains

Protein: ENSMUSP00000099651
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:TMEM234	11	126	2.1e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106037

SMART Domains

Protein: ENSMUSP00000101653
Gene: ENSMUSG00000078552

Domain	Start	End	E-Value	Type
DCX	1	85	7.69e-26	SMART
DCX	118	205	6.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129515

SMART Domains

Protein: ENSMUSP00000117184
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135628

SMART Domains

Protein: ENSMUSP00000120682
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137090

SMART Domains

Protein: ENSMUSP00000117568
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172635

Predicted Effect

probably benign
Transcript: ENSMUST00000179209

SMART Domains

Protein: ENSMUSP00000135913
Gene: ENSMUSG00000078552

Domain	Start	End	E-Value	Type
DCX	1	86	1.32e-24	SMART
DCX	91	178	1.1e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179209

SMART Domains

Protein: ENSMUSP00000135913
Gene: ENSMUSG00000078552

Domain	Start	End	E-Value	Type
DCX	1	86	1.32e-24	SMART
DCX	91	178	1.1e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174073

SMART Domains

Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145345

SMART Domains

Protein: ENSMUSP00000122893
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:TMEM234	6	56	2.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174819

SMART Domains

Protein: ENSMUSP00000133695
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	57	1.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173937

SMART Domains

Protein: ENSMUSP00000133412
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173758

SMART Domains

Protein: ENSMUSP00000134588
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	117	3.2e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150110

SMART Domains

Protein: ENSMUSP00000122513
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	58	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181579

SMART Domains

Protein: ENSMUSP00000137989
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	124	4.4e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172774

SMART Domains

Protein: ENSMUSP00000133502
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152126

SMART Domains

Protein: ENSMUSP00000120224
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151969

SMART Domains

Protein: ENSMUSP00000120878
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,218,184 (GRCm39)	T185S	possibly damaging	Het
Amotl1	A	G	9: 14,486,683 (GRCm39)	S441P	probably benign	Het
Ap5z1	G	A	5: 142,462,567 (GRCm39)	V626M	probably benign	Het
Cacna2d3	C	T	14: 28,892,460 (GRCm39)		probably null	Het
Cfap77	A	T	2: 28,874,446 (GRCm39)	V128D	probably damaging	Het
Colgalt1	T	C	8: 72,075,802 (GRCm39)	V483A	probably damaging	Het
Dsg2	A	T	18: 20,724,910 (GRCm39)	T439S	probably benign	Het
Dtx1	A	G	5: 120,820,689 (GRCm39)	Y455H	probably damaging	Het
Frmpd1	C	A	4: 45,284,899 (GRCm39)	S1240*	probably null	Het
Gypa	T	A	8: 81,227,560 (GRCm39)	H69Q	unknown	Het
Mfap5	G	A	6: 122,502,951 (GRCm39)	V54I	probably damaging	Het
Mroh7	C	T	4: 106,560,381 (GRCm39)	G641E	probably damaging	Het
Mvd	C	T	8: 123,166,442 (GRCm39)	R65H	probably benign	Het
Or14c40	A	G	7: 86,313,502 (GRCm39)	S211G	probably benign	Het
Pigs	T	A	11: 78,230,864 (GRCm39)	N370K	probably damaging	Het
Pkd1	A	G	17: 24,800,250 (GRCm39)	T3004A	possibly damaging	Het
Pkhd1	T	A	1: 20,279,470 (GRCm39)	R2949S	probably damaging	Het
Ptpro	T	C	6: 137,363,350 (GRCm39)	Y495H	probably benign	Het
Rfc4	G	T	16: 22,934,178 (GRCm39)	Q208K	probably benign	Het
Rpa2	T	C	4: 132,497,893 (GRCm39)	S52P	probably damaging	Het
Sirpb1c	G	T	3: 15,892,922 (GRCm39)	T94K	possibly damaging	Het
Sis	A	T	3: 72,828,770 (GRCm39)	N1136K	probably damaging	Het
Spp2	T	A	1: 88,348,402 (GRCm39)		probably null	Het
Ubr3	C	T	2: 69,781,706 (GRCm39)	T628I	probably damaging	Het
Vmn1r213	A	G	13: 23,195,819 (GRCm39)	H134R	probably damaging	Het
Vmn2r59	T	C	7: 41,661,722 (GRCm39)	R698G	probably benign	Het

Other mutations in Dcdc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Dcdc2b	APN	4	129,504,867 (GRCm39)	missense	probably benign	0.01
IGL03210:Dcdc2b	APN	4	129,505,578 (GRCm39)	missense	probably benign	0.02
R0362:Dcdc2b	UTSW	4	129,504,031 (GRCm39)	splice site	probably null
R4565:Dcdc2b	UTSW	4	129,504,778 (GRCm39)	missense	probably benign	0.00
R4677:Dcdc2b	UTSW	4	129,507,936 (GRCm39)	missense	probably damaging	1.00
R4911:Dcdc2b	UTSW	4	129,505,060 (GRCm39)	missense	possibly damaging	0.95
R5364:Dcdc2b	UTSW	4	129,502,963 (GRCm39)	missense	probably damaging	1.00
R7399:Dcdc2b	UTSW	4	129,503,422 (GRCm39)	missense	probably damaging	1.00
RF031:Dcdc2b	UTSW	4	129,503,444 (GRCm39)	unclassified	probably benign
RF033:Dcdc2b	UTSW	4	129,503,444 (GRCm39)	unclassified	probably benign
RF036:Dcdc2b	UTSW	4	129,503,444 (GRCm39)	unclassified	probably benign
RF039:Dcdc2b	UTSW	4	129,503,444 (GRCm39)	unclassified	probably benign

Predicted Primers

Posted On

2015-02-04