Mutagenetix > Incidental Mutation

Incidental Mutation 'RF031:Dcdc2b'

604360

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2b

Ensembl Gene

ENSMUSG00000078552

Gene Name

doublecortin domain containing 2b

Synonyms

Gm12964, LOC384062

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF031 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

129502124-129508050 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCTGC to GCTGCCAGGACTGC at 129503444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137989 (fasta)

Gene Model

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

AlphaFold

J3KML0

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

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: 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: ENSMUST00000151969

SMART Domains

Protein: ENSMUSP00000120878
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: 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: 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: 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: 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: 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: 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: ENSMUST00000181579

SMART Domains

Protein: ENSMUSP00000137989
Gene: ENSMUSG00000028797

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 38 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
AI837181	GCG	GCGCCG	19: 5,475,246 (GRCm39)	probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)	probably benign	Het
Blm	CCTCCTCCTCC	CCTCCTCCTCCTGCTCCTCCTCC	7: 80,162,671 (GRCm39)	probably benign	Het
Cyb5r4	GGGA	GGGATGTGACAGACACACTGCCCATGGA	9: 86,922,498 (GRCm39)	probably benign	Het
Dclre1a	CTTTGCT	C	19: 56,532,564 (GRCm39)	probably benign	Het
Dctn6	AAATCATGGCTTGCGATCT	A	8: 34,572,236 (GRCm39)	probably null	Het
Elovl5	G	T	9: 77,888,755 (GRCm39)	probably null	Het
Ermn	AACT	AACTACT	2: 57,938,078 (GRCm39)	probably benign	Het
Fbrsl1	G	GCGTGTGCTGGTC	5: 110,526,017 (GRCm39)	probably benign	Het
Fgd6	ATT	A	10: 93,880,187 (GRCm39)	probably null	Het
Flywch1	TCACTCACCCACTCCTGGTGT	TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT	17: 23,981,132 (GRCm39)	probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)	probably benign	Het
Gab3	TTC	TTCATC	X: 74,043,607 (GRCm39)	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,603 (GRCm39)	probably null	Het
Gm11060	CTGTGTG	CTG	2: 104,922,385 (GRCm39)	probably null	Het
Gm5475	GGTGGAAGGAAAG	GG	15: 100,325,029 (GRCm39)	probably null	Het
Heatr3	TAT	TATTAAT	8: 88,883,085 (GRCm39)	probably benign	Het
Iqcf4	TTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTT	9: 106,447,814 (GRCm39)	probably benign	Het
Ivl	GCTGCTGCTGCTGC	G	3: 92,479,625 (GRCm39)	probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,089,662 (GRCm39)	probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)	probably benign	Het
Lca5l	CCCTGGCCCCGGCC	CCC	16: 95,960,504 (GRCm39)	probably null	Het
Loricrin	ATAGCCG	A	3: 91,989,183 (GRCm39)	probably benign	Het
Mapk7	GGGGCA	GGGGCACGGGCA	11: 61,381,060 (GRCm39)	probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nlrp3	GGGTA	G	11: 59,449,378 (GRCm39)	probably null	Het
Nolc1	CAGCAGC	CAGCAGCAGGAGCAGC	19: 46,069,810 (GRCm39)	probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGATTT	4: 134,006,685 (GRCm39)	probably null	Het
Phldb3	CGCCCCCG	C	7: 24,325,918 (GRCm39)	probably null	Het
Setd1a	GGTGGTAGT	GGTGGTAGTAGTGGTAGT	7: 127,384,483 (GRCm39)	probably benign	Het
Spmap2l	CCCCAGTCCCGCAAGGCCAG	CCCCAGTCCCGCAAGGCCAGCGATCCTACCCAGTCCCGCAAGGCCAG	5: 77,164,257 (GRCm39)	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGATCCATTACCCCAGTC	17: 78,984,706 (GRCm39)	probably null	Het
Tcof1	TTCCCAGAGATCCCCTTGGC	TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTATCCCAGAGATCCCCTTGGC	18: 60,966,637 (GRCm39)	probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,817 (GRCm39)	probably benign	Het
Tedc2	AGGAACCCT	AGGAACCCTGGAACCCT	17: 24,435,213 (GRCm39)	probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)	probably benign	Het
Zfhx3	C	CCGCAGCAAA	8: 109,682,730 (GRCm39)	probably benign	Het
Zfp335	TCGTCGTC	TCGTCGTCGTC	2: 164,749,383 (GRCm39)	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
R0094:Dcdc2b	UTSW	4	129,504,104 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- ATTCTGCTGCAGACATCTCC -3'
(R):5'- AATGCCAGCGTCAATTCAAC -3'

Sequencing Primer
(F):5'- TGCAGACATCTCCCAGCAG -3'
(R):5'- CAACTATTTCTGGATAGACAGCCTGG -3'

Posted On

2019-12-04