Mutagenetix > Incidental Mutation

Incidental Mutation 'R5920:Dcdc2c'

461534

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2c

Ensembl Gene

ENSMUSG00000020633

Gene Name

doublecortin domain containing 2C

Synonyms

1110015M06Rik

MMRRC Submission

044117-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5920 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28487794-28602398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28585536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 154 (I154V)

Ref Sequence

ENSEMBL: ENSMUSP00000152233 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020963
AA Change: I154V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020963
Gene: ENSMUSG00000020633
AA Change: I154V

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 benign
Transcript: ENSMUST00000185916
AA Change: I86V

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000189735

SMART Domains

Protein: ENSMUSP00000140603
Gene: ENSMUSG00000020633

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221349
AA Change: I154V

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,164,091 (GRCm39)	K31E	probably damaging	Het
Ak9	T	A	10: 41,296,672 (GRCm39)	C1473S	probably benign	Het
Aox1	T	C	1: 58,088,631 (GRCm39)	L139S	probably damaging	Het
Arhgap45	T	A	10: 79,864,965 (GRCm39)	V849D	possibly damaging	Het
Atp13a1	G	A	8: 70,252,746 (GRCm39)	E689K	probably benign	Het
Calcr	G	A	6: 3,722,994 (GRCm39)	R11W	probably damaging	Het
Casd1	T	A	6: 4,641,853 (GRCm39)	L710Q	probably null	Het
Cenpc1	T	A	5: 86,168,769 (GRCm39)	T743S	probably benign	Het
Cfap43	A	G	19: 47,749,335 (GRCm39)	V1185A	possibly damaging	Het
Chd2	A	G	7: 73,187,060 (GRCm39)	L33P	probably damaging	Het
Col24a1	G	T	3: 145,133,985 (GRCm39)	G889C	probably damaging	Het
Cracdl	T	A	1: 37,677,062 (GRCm39)	K40M	probably damaging	Het
Dbh	T	C	2: 27,067,243 (GRCm39)		probably benign	Het
Eif2b5	G	T	16: 20,317,694 (GRCm39)	A11S	unknown	Het
Frmd4a	T	G	2: 4,337,927 (GRCm39)	N44K	probably benign	Het
Fsip2	C	T	2: 82,818,852 (GRCm39)	Q4862*	probably null	Het
Hectd4	C	T	5: 121,446,334 (GRCm39)	T1513I	possibly damaging	Het
Hspg2	A	T	4: 137,281,093 (GRCm39)	D3355V	probably damaging	Het
Ift56	A	G	6: 38,389,005 (GRCm39)	Y430C	probably damaging	Het
Il16	G	A	7: 83,301,552 (GRCm39)	T190I	probably benign	Het
Immt	T	A	6: 71,840,180 (GRCm39)	V319D	probably benign	Het
Kdm2b	G	C	5: 123,018,359 (GRCm39)	S989W	probably damaging	Het
Kmt2e	A	G	5: 23,704,440 (GRCm39)	E1211G	possibly damaging	Het
Ktn1	G	T	14: 47,961,481 (GRCm39)	G1061*	probably null	Het
Mast3	T	C	8: 71,240,577 (GRCm39)	I287V	probably benign	Het
Mrgpre	T	A	7: 143,335,465 (GRCm39)	T13S	probably benign	Het
Myoc	C	T	1: 162,467,128 (GRCm39)	A99V	probably benign	Het
Or10a49	C	A	7: 108,467,895 (GRCm39)	M155I	probably benign	Het
Otulinl	T	A	15: 27,664,442 (GRCm39)	R109S	possibly damaging	Het
Per3	G	A	4: 151,096,907 (GRCm39)	P873S	probably benign	Het
Phykpl	A	C	11: 51,493,622 (GRCm39)	E453A	probably benign	Het
Pkd2l2	A	T	18: 34,563,826 (GRCm39)	I514L	probably benign	Het
Plcl2	G	T	17: 50,915,703 (GRCm39)	R904L	probably damaging	Het
Ptpn1	A	G	2: 167,813,668 (GRCm39)	D137G	probably benign	Het
Rasal3	G	A	17: 32,614,143 (GRCm39)	P571S	probably damaging	Het
Sdha	A	G	13: 74,475,044 (GRCm39)		probably null	Het
Tbc1d31	C	A	15: 57,805,954 (GRCm39)	Q439K	probably benign	Het
Ttc12	T	C	9: 49,364,633 (GRCm39)	D381G	possibly damaging	Het
Uaca	T	A	9: 60,776,885 (GRCm39)	M424K	probably benign	Het
Usp33	G	T	3: 152,080,320 (GRCm39)	A484S	probably damaging	Het
Usp9y	A	G	Y: 1,316,730 (GRCm39)	S1940P	probably damaging	Het
Zfp532	G	A	18: 65,777,421 (GRCm39)	V893I	probably benign	Het

Other mutations in Dcdc2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02892:Dcdc2c	APN	12	28,585,544 (GRCm39)	missense	probably benign	0.03
R1214:Dcdc2c	UTSW	12	28,580,429 (GRCm39)	nonsense	probably null
R3040:Dcdc2c	UTSW	12	28,602,181 (GRCm39)	missense	probably damaging	1.00
R4937:Dcdc2c	UTSW	12	28,580,472 (GRCm39)	missense	possibly damaging	0.69
R5268:Dcdc2c	UTSW	12	28,566,656 (GRCm39)	missense	possibly damaging	0.83
R5921:Dcdc2c	UTSW	12	28,574,774 (GRCm39)	missense	possibly damaging	0.90
R6444:Dcdc2c	UTSW	12	28,585,475 (GRCm39)	missense	probably damaging	1.00
R6939:Dcdc2c	UTSW	12	28,591,496 (GRCm39)	missense	probably benign	0.09
R7044:Dcdc2c	UTSW	12	28,520,493 (GRCm39)	utr 3 prime	probably benign
R7235:Dcdc2c	UTSW	12	28,520,718 (GRCm39)	missense
R7287:Dcdc2c	UTSW	12	28,566,685 (GRCm39)	missense	probably benign
R7767:Dcdc2c	UTSW	12	28,520,256 (GRCm39)	missense
R7896:Dcdc2c	UTSW	12	28,520,619 (GRCm39)	nonsense	probably null
R7964:Dcdc2c	UTSW	12	28,520,318 (GRCm39)	missense
R8802:Dcdc2c	UTSW	12	28,576,720 (GRCm39)	missense	probably benign
R9111:Dcdc2c	UTSW	12	28,585,488 (GRCm39)	missense	probably damaging	1.00
R9545:Dcdc2c	UTSW	12	28,602,295 (GRCm39)	missense	possibly damaging	0.91
R9578:Dcdc2c	UTSW	12	28,602,234 (GRCm39)	missense	probably damaging	1.00
R9694:Dcdc2c	UTSW	12	28,585,553 (GRCm39)	missense
Z1176:Dcdc2c	UTSW	12	28,574,706 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TTCTGCACAGCTCAATGTTTG -3'
(R):5'- AGACTGCTCTGTAGGACTCC -3'

Sequencing Primer
(F):5'- GCACAGCTCAATGTTTGTTGAATAG -3'
(R):5'- GAATACAGTGTTCCCTCTC -3'

Posted On

2017-02-28