Mutagenetix > Incidental Mutation

Incidental Mutation 'R4565:Dcdc2b'

343282

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2b

Ensembl Gene

ENSMUSG00000078552

Gene Name

doublecortin domain containing 2b

Synonyms

Gm12964, LOC384062

MMRRC Submission

041790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129502124-129508050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129504778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 118 (T118A)

Ref Sequence

ENSEMBL: ENSMUSP00000135913 (fasta)

Gene Model

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

AlphaFold

J3KML0

Predicted Effect

probably benign
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
AA Change: T145A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101653
Gene: ENSMUSG00000078552
AA Change: T145A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127029

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: ENSMUST00000179209
AA Change: T118A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135913
Gene: ENSMUSG00000078552
AA Change: T118A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143374

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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000152126

SMART Domains

Protein: ENSMUSP00000120224
Gene: ENSMUSG00000028797

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,375,806 (GRCm39)		probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg3l1	A	T	8: 124,228,608 (GRCm39)	K725*	probably null	Het
Alkbh1	T	C	12: 87,478,236 (GRCm39)	D225G	probably damaging	Het
Anxa2	A	T	9: 69,397,019 (GRCm39)	K241M	probably damaging	Het
Bptf	G	A	11: 106,963,836 (GRCm39)	T1786M	probably damaging	Het
Cnst	A	G	1: 179,432,114 (GRCm39)	E208G	probably damaging	Het
Dhx35	C	A	2: 158,691,455 (GRCm39)	A646E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnhd1	T	A	7: 105,301,163 (GRCm39)	D173E	possibly damaging	Het
Dpy19l1	A	T	9: 24,343,684 (GRCm39)	L487Q	probably null	Het
Gtse1	T	G	15: 85,759,385 (GRCm39)	V631G	probably damaging	Het
Haspin	G	A	11: 73,028,445 (GRCm39)	L215F	probably benign	Het
Herc2	T	C	7: 55,803,586 (GRCm39)	V2207A	possibly damaging	Het
Jph1	A	G	1: 17,074,426 (GRCm39)	Y531H	possibly damaging	Het
Limk2	A	G	11: 3,298,634 (GRCm39)	I261T	probably damaging	Het
Oas3	A	G	5: 120,909,104 (GRCm39)	F281L	probably damaging	Het
Or2a25	A	T	6: 42,888,472 (GRCm39)	Q5L	probably benign	Het
Or7a40	C	A	16: 16,491,557 (GRCm39)	G96V	probably damaging	Het
Pcdhb17	A	G	18: 37,619,523 (GRCm39)	T438A	probably benign	Het
Pfdn5	T	C	15: 102,235,220 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,680 (GRCm39)	C158R	possibly damaging	Het
Rbmxl1	G	A	8: 79,232,639 (GRCm39)	P235S	probably benign	Het
Slc9b1	G	T	3: 135,088,478 (GRCm39)	V280F	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Trpm3	T	C	19: 22,965,233 (GRCm39)	I1576T	probably benign	Het
Trpm6	T	A	19: 18,803,236 (GRCm39)	V893D	probably damaging	Het
Ttc13	A	T	8: 125,408,826 (GRCm39)	N583K	probably damaging	Het
Zfp618	T	C	4: 63,039,588 (GRCm39)	C396R	probably damaging	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
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

PCR Primer
(F):5'- TGTTCCATACTCGTGTACAGCC -3'
(R):5'- GGAGCTCCAATTCCAATAGAAAG -3'

Sequencing Primer
(F):5'- ACCCCGTGCTCACTGTG -3'
(R):5'- GATTAAAAACCCAACATGAGAATGG -3'

Posted On

2015-09-24