Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03210:Dcdc2b'

413285

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03210

Quality Score

Status

Chromosome

Chromosomal Location

129502124-129508050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129505578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 95 (K95R)

Ref Sequence

ENSEMBL: ENSMUSP00000101653 (fasta)

Gene Model

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

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: K95R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101653
Gene: ENSMUSG00000078552
AA Change: K95R

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

noncoding transcript
Transcript: ENSMUST00000174350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143374

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: 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: 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: 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: 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: ENSMUST00000174819

SMART Domains

Protein: ENSMUSP00000133695
Gene: ENSMUSG00000028797

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

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,141,635 (GRCm39)	F9L	probably benign	Het
Adora3	T	C	3: 105,815,176 (GRCm39)	S163P	probably benign	Het
Ark2c	C	A	18: 77,554,435 (GRCm39)	V60L	probably damaging	Het
C3	G	A	17: 57,522,846 (GRCm39)	Q1013*	probably null	Het
Cacna1b	A	T	2: 24,540,584 (GRCm39)	F1381Y	probably benign	Het
Dnah8	A	G	17: 31,034,639 (GRCm39)	E4186G	probably damaging	Het
Dock1	T	C	7: 134,358,668 (GRCm39)	V374A	possibly damaging	Het
Gramd2b	A	G	18: 56,607,170 (GRCm39)	T95A	probably benign	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Hmgb4	A	G	4: 128,154,535 (GRCm39)	V11A	probably benign	Het
Knl1	G	A	2: 118,901,098 (GRCm39)	S933N	probably benign	Het
Ldlrad3	G	A	2: 101,900,271 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,390,331 (GRCm39)	Y1698F	probably benign	Het
Ms4a14	A	G	19: 11,279,325 (GRCm39)	W1078R	possibly damaging	Het
Nol4l	G	A	2: 153,371,378 (GRCm39)	P102L	probably benign	Het
Nsun3	A	G	16: 62,591,110 (GRCm39)	F178L	probably damaging	Het
Nup85	T	A	11: 115,457,462 (GRCm39)	Y55N	probably benign	Het
Opcml	A	G	9: 28,812,833 (GRCm39)	E175G	probably damaging	Het
Or10a3m	T	A	7: 108,312,775 (GRCm39)	Y60N	probably damaging	Het
Or11g7	A	T	14: 50,691,440 (GRCm39)	R310S	probably benign	Het
Or9g4	T	C	2: 85,504,697 (GRCm39)	Y266C	probably damaging	Het
Pask	A	T	1: 93,247,714 (GRCm39)	W1074R	possibly damaging	Het
Pdzrn3	T	C	6: 101,133,913 (GRCm39)	T439A	possibly damaging	Het
Pkd1l1	C	A	11: 8,915,127 (GRCm39)	V138L	unknown	Het
Ptprj	C	A	2: 90,300,070 (GRCm39)	V244L	probably benign	Het
Rapgef5	A	G	12: 117,706,607 (GRCm39)	K697E	probably damaging	Het
Rp9	G	T	9: 22,368,724 (GRCm39)	H78Q	probably benign	Het
Serpinb8	A	G	1: 107,530,641 (GRCm39)	T140A	probably damaging	Het
Slc29a4	A	T	5: 142,700,863 (GRCm39)	M203L	probably damaging	Het
Stag1	T	A	9: 100,727,129 (GRCm39)	L363I	possibly damaging	Het
Susd1	T	G	4: 59,333,035 (GRCm39)		probably null	Het
Thoc3	A	T	13: 54,614,035 (GRCm39)	M196K	probably benign	Het
Tnr	A	G	1: 159,715,880 (GRCm39)	T881A	probably benign	Het
Ttbk2	A	G	2: 120,652,973 (GRCm39)	V17A	probably damaging	Het
Ttc41	T	A	10: 86,560,278 (GRCm39)		probably null	Het
Utp14b	A	G	1: 78,643,268 (GRCm39)	M389V	probably benign	Het
Utp4	T	A	8: 107,642,888 (GRCm39)	H515Q	probably benign	Het
Xpo1	A	G	11: 23,228,834 (GRCm39)	H223R	probably benign	Het
Xpot	A	G	10: 121,451,132 (GRCm39)		probably benign	Het
Zfp455	A	T	13: 67,355,113 (GRCm39)	H127L	possibly damaging	Het
Zscan4e	T	A	7: 11,041,459 (GRCm39)	M166L	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
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
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

Posted On

2016-08-02