Mutagenetix > Incidental Mutation

Incidental Mutation 'R1973:Dennd2c'

221210

Institutional Source

Beutler Lab

Gene Symbol

Dennd2c

Ensembl Gene

ENSMUSG00000007379

Gene Name

DENN/MADD domain containing 2C

Synonyms

MMRRC Submission

039986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103102604-103169769 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103131698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 54 (V54A)

Ref Sequence

ENSEMBL: ENSMUSP00000127187 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166143

Predicted Effect

probably benign
Transcript: ENSMUST00000172288
AA Change: V54A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: V54A

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

probably benign
Transcript: ENSMUST00000173206
AA Change: V54A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: V54A

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

Meta Mutation Damage Score

0.0667

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,812,746	I143L	probably benign	Het
Acp7	T	A	7: 28,607,989	D481V	probably damaging	Het
AI597479	T	A	1: 43,111,126	I132K	probably benign	Het
Anxa13	T	C	15: 58,356,181		noncoding transcript	Het
Brca1	A	T	11: 101,526,403	C302S	probably benign	Het
Brd8	T	A	18: 34,608,013	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,459,777	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,102,563	C294S	probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Chat	C	T	14: 32,424,191	V342I	probably benign	Het
Chd6	A	G	2: 160,966,387	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,924,834		probably null	Het
Col6a3	A	T	1: 90,804,175	I1452N	probably damaging	Het
Dnah1	C	T	14: 31,265,391	W3550*	probably null	Het
Dscr3	T	C	16: 94,501,546	N267S	probably damaging	Het
Efl1	T	C	7: 82,762,877	S825P	probably damaging	Het
Fam189a1	A	T	7: 64,775,768	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405	E350K	probably benign	Het
Frem2	T	A	3: 53,652,232	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,603,286	T6A	probably benign	Het
Gm5814	A	T	17: 47,410,549	M63L	probably benign	Het
Gpr149	T	C	3: 62,530,795	K647R	probably benign	Het
Iqgap3	T	A	3: 88,083,928		probably null	Het
Kcnh3	T	C	15: 99,229,400	V359A	probably damaging	Het
Kit	G	A	5: 75,615,442	A295T	probably damaging	Het
Krt77	G	T	15: 101,861,244	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,149,076	S638*	probably null	Het
Neurl4	C	T	11: 69,909,292	P1091S	probably benign	Het
Nod2	A	T	8: 88,652,873	M8L	probably damaging	Het
Nos1	A	G	5: 117,936,426	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,505,414	S202I	probably damaging	Het
Nuak2	A	T	1: 132,330,602	H257L	probably damaging	Het
Nwd1	T	C	8: 72,704,962	V1195A	possibly damaging	Het
Olfr243	T	A	7: 103,716,597	M1K	probably null	Het
Olfr370	T	C	8: 83,541,792	V216A	probably benign	Het
Olfr693	T	C	7: 106,678,219	D89G	probably benign	Het
Olfr889	T	A	9: 38,116,567	M257K	possibly damaging	Het
Olfr919	A	G	9: 38,697,868	V170A	probably damaging	Het
Pclo	G	T	5: 14,676,059		probably null	Het
Pnpla7	A	G	2: 25,016,617	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,576,934	T105I	probably benign	Het
Ptger1	C	A	8: 83,669,454	T380K	probably benign	Het
Ptk7	G	A	17: 46,586,807	Q282*	probably null	Het
Ptpn18	G	T	1: 34,463,109	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,024,391	D589G	probably damaging	Het
Rara	A	G	11: 98,971,670	N299S	possibly damaging	Het
Rpl13a	T	A	7: 45,125,995	K368*	probably null	Het
Rslcan18	T	C	13: 67,108,023		probably benign	Het
Rtel1	A	G	2: 181,351,626	Y731C	probably benign	Het
Sec16a	A	T	2: 26,426,489	S1666R	probably damaging	Het
Sis	A	G	3: 72,921,004	F1217S	probably damaging	Het
Slc10a7	T	A	8: 78,697,333		probably null	Het
Slc22a7	A	G	17: 46,437,090	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,663,605	I249V	probably benign	Het
Slc38a4	T	C	15: 96,999,597	K446E	probably benign	Het
Sned1	G	A	1: 93,265,073	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,066	*876C	probably null	Het
Spink11	A	G	18: 44,196,138	C14R	unknown	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Tnfaip3	T	C	10: 19,004,504	N605S	probably damaging	Het
Trpc1	A	G	9: 95,723,255	M283T	probably benign	Het
Ttn	A	G	2: 76,714,362	S32799P	probably damaging	Het
Ttn	A	G	2: 76,720,099	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 88,056,047	Y189F	probably damaging	Het
Usp32	G	T	11: 85,103,931	L52I	probably benign	Het
Usp33	A	G	3: 152,360,286	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,025,026	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Wdr43	A	G	17: 71,640,240	N364D	probably benign	Het
Zdbf2	C	A	1: 63,309,701	P2413Q	unknown	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
IGL02119:Dennd2c	APN	3	103137243	missense	probably damaging	0.99
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
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
R9131:Dennd2c	UTSW	3	103157715	missense	probably damaging	1.00
R9332:Dennd2c	UTSW	3	103131561	missense	probably benign	0.01
R9350:Dennd2c	UTSW	3	103131992	missense	possibly damaging	0.79
R9520:Dennd2c	UTSW	3	103137168	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCATGGCACCTCTCTAAGAG -3'
(R):5'- GCAGCCTTCGATTTGTTTGAC -3'

Sequencing Primer
(F):5'- TCTAAGAGTGACTCGTCATGCAC -3'
(R):5'- GATTTGTTTGACCCGAGCACAC -3'

Posted On

2014-08-25