Mutagenetix > Incidental Mutations

Incidental Mutation 'R1214:Dcdc2c'

99533

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2c

Ensembl Gene

ENSMUSG00000020633

Gene Name

doublecortin domain containing 2C

Synonyms

1110015M06Rik

MMRRC Submission

039283-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28437795-28552399 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 28530430 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 201 (Y201*)

Ref Sequence

ENSEMBL: ENSMUSP00000152233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020963] [ENSMUST00000189735] [ENSMUST00000221349]

Predicted Effect

probably null
Transcript: ENSMUST00000020963
AA Change: Y201*

SMART Domains

Protein: ENSMUSP00000020963
Gene: ENSMUSG00000020633
AA Change: Y201*

Domain	Start	End	E-Value	Type
DCX	11	98	2.16e-29	SMART
DCX	131	217	6.18e-7	SMART
low complexity region	302	316	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000185916
AA Change: Y133*

Predicted Effect

probably null
Transcript: ENSMUST00000189735
AA Change: Y33*

SMART Domains

Protein: ENSMUSP00000140603
Gene: ENSMUSG00000020633
AA Change: Y33*

Domain	Start	End	E-Value	Type
Pfam:DCX	1	44	1.5e-9	PFAM
low complexity region	134	148	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000221349
AA Change: Y201*

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Dock9	C	T	14: 121,586,316	V1395I	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Micall2	T	C	5: 139,711,641	S652G	probably damaging	Het
Olfr1289	T	C	2: 111,483,892	F154S	probably damaging	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Olfr341	G	T	2: 36,479,969	H54N	possibly damaging	Het
Ptpre	A	T	7: 135,679,258	S643C	probably damaging	Het
Slc26a5	T	A	5: 21,814,983	I530F	probably damaging	Het
Slfn5	A	G	11: 82,960,091	M405V	probably benign	Het
Ttc29	A	G	8: 78,325,582	Y364C	probably damaging	Het
Wasf3	G	A	5: 146,470,288	V473M	probably damaging	Het
Zcchc6	A	G	13: 59,805,326	V100A	possibly damaging	Het

Other mutations in Dcdc2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02892:Dcdc2c	APN	12	28535545	missense	probably benign	0.03
R3040:Dcdc2c	UTSW	12	28552182	missense	probably damaging	1.00
R4937:Dcdc2c	UTSW	12	28530473	missense	possibly damaging	0.69
R5268:Dcdc2c	UTSW	12	28516657	missense	possibly damaging	0.83
R5920:Dcdc2c	UTSW	12	28535537	missense	possibly damaging	0.67
R5921:Dcdc2c	UTSW	12	28524775	missense	possibly damaging	0.90
R6444:Dcdc2c	UTSW	12	28535476	missense	probably damaging	1.00
R6939:Dcdc2c	UTSW	12	28541497	missense	probably benign	0.09
R7044:Dcdc2c	UTSW	12	28470494	utr 3 prime	probably benign
R7235:Dcdc2c	UTSW	12	28470719	missense
R7287:Dcdc2c	UTSW	12	28516686	missense	probably benign
R7767:Dcdc2c	UTSW	12	28470257	missense
R7896:Dcdc2c	UTSW	12	28470620	nonsense	probably null
R7964:Dcdc2c	UTSW	12	28470319	missense
Z1176:Dcdc2c	UTSW	12	28524707	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGCAAAATGGTCACTCAGACCAGAG -3'
(R):5'- TGTGCAGTCCAGGAAGAACAGCTC -3'

Sequencing Primer
(F):5'- agagacagagacagagagacag -3'
(R):5'- AGCTCCCAAAGGCTTCCTG -3'

Posted On

2014-01-15