Mutagenetix > Incidental Mutation

Incidental Mutation 'R3939:Dennd4c'

308587

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN/MADD domain containing 4C

Synonyms

1700065A05Rik

MMRRC Submission

040826-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86748555-86850603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86774280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 9 (V9G)

Ref Sequence

ENSEMBL: ENSMUSP00000123367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045512] [ENSMUST00000082026] [ENSMUST00000142837]

AlphaFold

A6H8H2

Predicted Effect

probably benign
Transcript: ENSMUST00000045512
AA Change: V9G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: V9G

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	2.15e-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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082026
AA Change: V9G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: V9G

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

noncoding transcript
Transcript: ENSMUST00000128710

Predicted Effect

probably damaging
Transcript: ENSMUST00000142837
AA Change: V9G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: V9G

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

Meta Mutation Damage Score

0.1151

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Atp13a2	T	C	4: 141,006,422	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,751,861	D277E	probably damaging	Het
Cacnb4	C	A	2: 52,469,489	R169L	probably damaging	Het
Col13a1	T	C	10: 61,863,082	I491V	unknown	Het
Corin	T	C	5: 72,339,879	D531G	possibly damaging	Het
Cx3cr1	C	T	9: 120,051,644	V231I	probably benign	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Faf1	T	G	4: 109,861,879	L394R	probably damaging	Het
Fgfr4	G	A	13: 55,156,494	D116N	probably null	Het
Flt3	A	G	5: 147,356,243	Y518H	possibly damaging	Het
Frem3	T	C	8: 80,615,020	I1314T	possibly damaging	Het
Gk2	T	A	5: 97,455,352	L542F	possibly damaging	Het
Gm4922	T	A	10: 18,784,614	E120V	probably damaging	Het
Hip1	A	T	5: 135,428,764	I285N	probably benign	Het
Kcnd2	C	A	6: 21,217,096	D266E	probably damaging	Het
Kdr	C	T	5: 75,972,429	W63*	probably null	Het
Kit	A	G	5: 75,609,318	D130G	probably benign	Het
Megf8	G	A	7: 25,359,202	V2208I	probably benign	Het
Neto2	G	A	8: 85,674,118	T16I	probably damaging	Het
Nktr	T	A	9: 121,749,069		probably benign	Het
Nrxn1	A	G	17: 90,208,421	I1207T	probably damaging	Het
Obox7	G	A	7: 14,664,047	G4D	probably benign	Het
Ogdh	G	A	11: 6,350,655	W827*	probably null	Het
Olfr1223	T	A	2: 89,144,130	K298*	probably null	Het
Olfr309	T	C	7: 86,306,229	M295V	probably benign	Het
Olfr726	A	G	14: 50,083,716	*322Q	probably null	Het
Pcdhga9	G	A	18: 37,738,942	R608H	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sbpl	T	A	17: 23,953,643	I101L	probably benign	Het
Serpina9	T	A	12: 104,008,892	M1L	probably benign	Het
Stxbp6	A	G	12: 44,902,858		probably null	Het
Synpo2	A	G	3: 123,114,590	V359A	probably damaging	Het
Ttyh1	T	A	7: 4,129,318	L155H	probably damaging	Het
Vil1	A	G	1: 74,432,415	D785G	probably benign	Het
Zfp345	G	A	2: 150,472,553	H355Y	probably 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
R1997:Dennd4c	UTSW	4	86837397	missense	probably benign
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
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'- AGCTTCTACAAAATGGAGTTTGG -3'
(R):5'- TGTAGCACAGGAAAAGCTCTG -3'

Sequencing Primer
(F):5'- CTACAAAATGGAGTTTGGTTACACG -3'
(R):5'- GGCTCTTCAGACTTCCATAATTCAAG -3'

Posted On

2015-04-17