Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02119:Dennd2c'

280513

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd2c

Ensembl Gene

ENSMUSG00000007379

Gene Name

DENN/MADD domain containing 2C

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

103102604-103169769 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103137243 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 380 (V380D)

Ref Sequence

ENSEMBL: ENSMUSP00000127187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172288] [ENSMUST00000173206]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166143

Predicted Effect

probably damaging
Transcript: ENSMUST00000172288
AA Change: V380D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: V380D

Domain	Start	End	E-Value	Type
uDENN	481	571	1.01e-25	SMART
DENN	578	762	3.36e-77	SMART
dDENN	806	873	1.15e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173037

Predicted Effect

probably benign
Transcript: ENSMUST00000173206

SMART Domains

Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379

Domain	Start	End	E-Value	Type
uDENN	424	514	1.01e-25	SMART
DENN	521	705	3.36e-77	SMART
dDENN	749	816	1.15e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174060

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,328,000		probably null	Het
Acsbg2	T	C	17: 56,868,459		probably benign	Het
Ap3b1	T	C	13: 94,462,403	V495A	probably benign	Het
Astn1	T	C	1: 158,511,154		probably benign	Het
Bora	A	G	14: 99,053,538	D94G	probably damaging	Het
Bpifb9b	G	T	2: 154,313,624	V348L	possibly damaging	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,390,064	I372S	probably damaging	Het
Fat4	C	T	3: 38,982,939	A3580V	probably benign	Het
Filip1	A	G	9: 79,818,266	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,512	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,121,042	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,453,668	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,588,610		probably null	Het
Gsn	G	T	2: 35,302,495	R485L	probably damaging	Het
Havcr1	A	G	11: 46,775,493	Y261C	probably damaging	Het
Maneal	A	T	4: 124,859,167	I229N	probably benign	Het
Med24	A	T	11: 98,728,835	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,747,992		probably benign	Het
Noa1	T	A	5: 77,307,579	Q430L	probably benign	Het
Olfr1099	T	C	2: 86,959,183	I92V	probably benign	Het
Olfr365	C	A	2: 37,201,269	S9R	possibly damaging	Het
Olfr74	T	A	2: 87,974,410	N85I	probably benign	Het
Olfr834	T	C	9: 18,988,612	V208A	probably benign	Het
Pde3a	T	A	6: 141,459,803	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,300,490	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,272,571	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,517,908	F200I	probably damaging	Het
Prodh2	T	C	7: 30,506,504	V208A	probably damaging	Het
Ranbp10	T	C	8: 105,827,003	D89G	probably damaging	Het
Rbm33	T	A	5: 28,339,017	S90R	probably damaging	Het
Slc44a4	A	C	17: 34,928,661	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,228,670	I174F	probably damaging	Het
Smim17	T	C	7: 6,427,161		probably benign	Het
Tln1	T	C	4: 43,546,760	E872G	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733	L625S	probably damaging	Het
Vmn2r59	A	G	7: 42,046,169	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Whrn	T	G	4: 63,435,487	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,763,895	V399A	probably benign	Het

Other mutations in Dennd2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Dennd2c	APN	3	103156908	missense	probably damaging	1.00
IGL01791:Dennd2c	APN	3	103166425	missense	probably benign	0.19
IGL02100:Dennd2c	APN	3	103153675	missense	probably damaging	0.98
IGL02395:Dennd2c	APN	3	103157765	missense	probably benign	0.00
IGL02631:Dennd2c	APN	3	103156071	missense	possibly damaging	0.56
IGL02895:Dennd2c	APN	3	103137203	missense	possibly damaging	0.76
convolution	UTSW	3	103156107	missense	probably damaging	1.00
Resolution	UTSW	3	103133345	missense	possibly damaging	0.51
R1749:Dennd2c	UTSW	3	103132036	missense	possibly damaging	0.92
R1931:Dennd2c	UTSW	3	103133252	missense	probably benign	0.32
R1964:Dennd2c	UTSW	3	103166491	missense	probably damaging	1.00
R1972:Dennd2c	UTSW	3	103131698	missense	probably benign	0.01
R1973:Dennd2c	UTSW	3	103131698	missense	probably benign	0.01
R2025:Dennd2c	UTSW	3	103131689	missense	possibly damaging	0.71
R2350:Dennd2c	UTSW	3	103132001	missense	probably benign	0.00
R2373:Dennd2c	UTSW	3	103156842	missense	probably damaging	0.99
R4555:Dennd2c	UTSW	3	103131886	missense	probably benign	0.00
R4916:Dennd2c	UTSW	3	103131824	missense	probably benign	0.00
R5560:Dennd2c	UTSW	3	103161555	missense	probably damaging	1.00
R6291:Dennd2c	UTSW	3	103131609	nonsense	probably null
R6395:Dennd2c	UTSW	3	103149224	critical splice donor site	probably null
R6567:Dennd2c	UTSW	3	103132019	missense	probably benign	0.02
R6681:Dennd2c	UTSW	3	103131661	missense	probably benign	0.01
R7106:Dennd2c	UTSW	3	103131577	missense	possibly damaging	0.82
R7162:Dennd2c	UTSW	3	103156107	missense	probably damaging	1.00
R7514:Dennd2c	UTSW	3	103163062	missense	probably benign	0.00
R7591:Dennd2c	UTSW	3	103133345	missense	possibly damaging	0.51
R7698:Dennd2c	UTSW	3	103165043	missense	possibly damaging	0.65
R8069:Dennd2c	UTSW	3	103165130	missense	probably damaging	1.00
R8086:Dennd2c	UTSW	3	103133345	missense	possibly damaging	0.51
R8247:Dennd2c	UTSW	3	103152321	missense	probably damaging	0.99
R8347:Dennd2c	UTSW	3	103157709	missense	probably damaging	0.99
R8829:Dennd2c	UTSW	3	103152404	critical splice donor site	probably null
R8832:Dennd2c	UTSW	3	103152404	critical splice donor site	probably null

Posted On

2015-04-16