Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Dennd4c'

224304

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN/MADD domain containing 4C

Synonyms

1700065A05Rik

MMRRC Submission

040007-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86748555-86850603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86837397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1609 (T1609A)

Ref Sequence

ENSEMBL: ENSMUSP00000123367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082026] [ENSMUST00000142837]

AlphaFold

A6H8H2

Predicted Effect

probably benign
Transcript: ENSMUST00000082026
AA Change: T1658A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: T1658A

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	3.19e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1013	1025	N/A	INTRINSIC
low complexity region	1045	1052	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1175	1186	N/A	INTRINSIC
low complexity region	1377	1392	N/A	INTRINSIC
low complexity region	1472	1486	N/A	INTRINSIC
low complexity region	1724	1739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142837
AA Change: T1609A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: T1609A

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	2.68e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	934	952	N/A	INTRINSIC
low complexity region	964	976	N/A	INTRINSIC
low complexity region	996	1003	N/A	INTRINSIC
low complexity region	1053	1064	N/A	INTRINSIC
low complexity region	1126	1137	N/A	INTRINSIC
low complexity region	1328	1343	N/A	INTRINSIC
low complexity region	1423	1437	N/A	INTRINSIC
low complexity region	1675	1690	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acin1	T	C	14: 54,646,699		probably null	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cdh7	A	T	1: 110,048,938	D111V	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dbn1	T	C	13: 55,482,441	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kcnh1	G	A	1: 192,276,935	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904	T1168A	possibly damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Myocd	G	A	11: 65,204,321	Q47*	probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Polg	A	G	7: 79,459,231	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Sec23a	T	A	12: 59,002,007	I110L	probably benign	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	Het

Other mutations in Dennd4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Dennd4c	APN	4	86805487	splice site	probably benign
IGL01810:Dennd4c	APN	4	86799551	missense	possibly damaging	0.94
IGL02203:Dennd4c	APN	4	86802936	missense	probably benign	0.00
IGL02217:Dennd4c	APN	4	86813799	missense	probably benign
IGL02236:Dennd4c	APN	4	86807435	missense	possibly damaging	0.68
IGL02256:Dennd4c	APN	4	86799541	missense	probably damaging	0.96
IGL02396:Dennd4c	APN	4	86825000	missense	probably damaging	1.00
IGL02523:Dennd4c	APN	4	86774253	unclassified	probably benign
IGL02615:Dennd4c	APN	4	86821467	missense	probably benign	0.00
IGL03069:Dennd4c	APN	4	86774437	nonsense	probably null
IGL03116:Dennd4c	APN	4	86788820	splice site	probably benign
IGL03117:Dennd4c	APN	4	86777903	missense	possibly damaging	0.95
IGL03273:Dennd4c	APN	4	86777796	missense	probably damaging	1.00
IGL03329:Dennd4c	APN	4	86777876	missense	probably damaging	1.00
IGL03365:Dennd4c	APN	4	86807426	critical splice acceptor site	probably null
PIT4486001:Dennd4c	UTSW	4	86799464	nonsense	probably null
R0010:Dennd4c	UTSW	4	86781577	missense	probably damaging	1.00
R0032:Dennd4c	UTSW	4	86828150	critical splice donor site	probably null
R0032:Dennd4c	UTSW	4	86828150	critical splice donor site	probably null
R0092:Dennd4c	UTSW	4	86781607	missense	probably damaging	1.00
R0103:Dennd4c	UTSW	4	86812446	missense	probably benign	0.07
R0103:Dennd4c	UTSW	4	86812446	missense	probably benign	0.07
R0511:Dennd4c	UTSW	4	86826022	missense	probably damaging	1.00
R0515:Dennd4c	UTSW	4	86813466	missense	possibly damaging	0.94
R0578:Dennd4c	UTSW	4	86812422	missense	probably damaging	1.00
R0759:Dennd4c	UTSW	4	86788829	missense	probably damaging	1.00
R0784:Dennd4c	UTSW	4	86844908	missense	probably benign	0.37
R1156:Dennd4c	UTSW	4	86807466	missense	probably damaging	1.00
R1370:Dennd4c	UTSW	4	86811510	missense	probably damaging	1.00
R1381:Dennd4c	UTSW	4	86774532	missense	probably benign	0.24
R1569:Dennd4c	UTSW	4	86786094	missense	possibly damaging	0.59
R1747:Dennd4c	UTSW	4	86807438	missense	probably damaging	1.00
R1764:Dennd4c	UTSW	4	86803010	missense	probably damaging	1.00
R1838:Dennd4c	UTSW	4	86825178	missense	probably benign	0.00
R2244:Dennd4c	UTSW	4	86774543	missense	probably damaging	1.00
R2348:Dennd4c	UTSW	4	86811527	missense	probably benign	0.04
R2968:Dennd4c	UTSW	4	86781644	missense	possibly damaging	0.93
R3033:Dennd4c	UTSW	4	86825320	small deletion	probably benign
R3401:Dennd4c	UTSW	4	86774543	missense	probably damaging	1.00
R3402:Dennd4c	UTSW	4	86774543	missense	probably damaging	1.00
R3403:Dennd4c	UTSW	4	86774543	missense	probably damaging	1.00
R3855:Dennd4c	UTSW	4	86779847	missense	probably damaging	1.00
R3939:Dennd4c	UTSW	4	86774280	missense	probably damaging	1.00
R4164:Dennd4c	UTSW	4	86807527	missense	probably benign	0.01
R4384:Dennd4c	UTSW	4	86811450	missense	probably damaging	1.00
R4435:Dennd4c	UTSW	4	86798075	missense	probably benign	0.44
R4788:Dennd4c	UTSW	4	86819963	missense	probably benign	0.00
R4801:Dennd4c	UTSW	4	86819884	nonsense	probably null
R4802:Dennd4c	UTSW	4	86819884	nonsense	probably null
R4818:Dennd4c	UTSW	4	86825274	missense	probably benign	0.00
R4923:Dennd4c	UTSW	4	86807538	missense	probably damaging	1.00
R4958:Dennd4c	UTSW	4	86781679	missense	probably damaging	1.00
R5025:Dennd4c	UTSW	4	86795299	critical splice donor site	probably null
R5434:Dennd4c	UTSW	4	86811456	missense	probably benign	0.10
R5662:Dennd4c	UTSW	4	86795288	missense	probably benign	0.13
R5802:Dennd4c	UTSW	4	86811453	missense	probably benign	0.02
R5849:Dennd4c	UTSW	4	86825986	missense	possibly damaging	0.58
R5861:Dennd4c	UTSW	4	86791352	missense	probably benign	0.30
R5970:Dennd4c	UTSW	4	86825512	missense	probably damaging	1.00
R6163:Dennd4c	UTSW	4	86805591	missense	possibly damaging	0.56
R6356:Dennd4c	UTSW	4	86825449	missense	probably benign
R6661:Dennd4c	UTSW	4	86799389	missense	possibly damaging	0.66
R6855:Dennd4c	UTSW	4	86836457	missense	probably benign
R6983:Dennd4c	UTSW	4	86799493	missense	probably damaging	1.00
R7035:Dennd4c	UTSW	4	86812337	missense	probably damaging	1.00
R7126:Dennd4c	UTSW	4	86807430	missense	probably damaging	1.00
R7185:Dennd4c	UTSW	4	86811450	missense	probably damaging	1.00
R7212:Dennd4c	UTSW	4	86802991	missense	probably damaging	1.00
R7324:Dennd4c	UTSW	4	86829738	missense	unknown
R7329:Dennd4c	UTSW	4	86779874	missense	possibly damaging	0.81
R7329:Dennd4c	UTSW	4	86841081	missense	probably damaging	1.00
R7466:Dennd4c	UTSW	4	86774331	missense	probably damaging	0.99
R7479:Dennd4c	UTSW	4	86799353	missense	probably damaging	1.00
R7538:Dennd4c	UTSW	4	86774516	missense	probably damaging	1.00
R7599:Dennd4c	UTSW	4	86811612	missense	probably damaging	1.00
R7688:Dennd4c	UTSW	4	86795140	missense	probably damaging	1.00
R7725:Dennd4c	UTSW	4	86786093	missense	probably benign	0.00
R7751:Dennd4c	UTSW	4	86828942	missense	probably benign	0.05
R7790:Dennd4c	UTSW	4	86799517	missense	probably damaging	0.96
R8056:Dennd4c	UTSW	4	86844976	missense	probably null	0.71
R8307:Dennd4c	UTSW	4	86825872	missense	probably benign	0.12
R8494:Dennd4c	UTSW	4	86841075	missense	probably damaging	1.00
R8531:Dennd4c	UTSW	4	86826082	critical splice donor site	probably null
R9014:Dennd4c	UTSW	4	86821465	missense	probably benign	0.07
R9014:Dennd4c	UTSW	4	86836429	missense	probably benign	0.00
R9017:Dennd4c	UTSW	4	86825112	missense	probably benign	0.33
R9142:Dennd4c	UTSW	4	86837400	missense	probably benign	0.32
R9224:Dennd4c	UTSW	4	86819933	nonsense	probably null
R9570:Dennd4c	UTSW	4	86828971	missense	possibly damaging	0.71
R9644:Dennd4c	UTSW	4	86795126	missense	probably damaging	0.99
R9649:Dennd4c	UTSW	4	86824923	missense	probably benign	0.00
R9658:Dennd4c	UTSW	4	86836388	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCGTGCTATCAGAAGTACATG -3'
(R):5'- GCAGACTGCTTGGAAGACTGAC -3'

Sequencing Primer
(F):5'- CTAGGAATTGAACTCAGGACCTCTG -3'
(R):5'- ACTGACTGTTGAGACGCCATG -3'

Posted On

2014-08-25