Mutagenetix > Incidental Mutation

Incidental Mutation 'R6356:Dennd4c'

513002

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN/MADD domain containing 4C

Synonyms

1700065A05Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86748555-86850603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86825449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1176 (V1176A)

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: V1225A

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

SMART Domains

Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: V1225A

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 benign
Transcript: ENSMUST00000082026
AA Change: V1225A

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

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: V1225A

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: V1176A

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

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: V1176A

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: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,254,009	S152T	probably benign	Het
Aass	A	G	6: 23,093,902	V140A	probably damaging	Het
Add1	A	G	5: 34,619,396	N32S	probably null	Het
Agap2	T	C	10: 127,082,996	S414P	unknown	Het
Arhgef38	A	G	3: 133,140,877	F376L	probably benign	Het
Cd22	A	T	7: 30,877,702	I60N	probably damaging	Het
Cdh23	T	A	10: 60,438,847	D488V	probably damaging	Het
Cox16	T	G	12: 81,472,341	D148A	probably damaging	Het
Dclre1b	G	A	3: 103,808,155	T9I	probably damaging	Het
Echdc1	A	C	10: 29,344,526		probably null	Het
Efnb3	G	A	11: 69,556,140	A248V	probably benign	Het
Glud1	A	G	14: 34,311,216	R107G	probably benign	Het
Gm11639	A	G	11: 104,893,707	K2772E	probably benign	Het
Gtf2h4	A	G	17: 35,669,755	S279P	probably damaging	Het
Hectd1	A	G	12: 51,744,619	C2579R	probably damaging	Het
Igkv15-103	A	G	6: 68,437,457		probably benign	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,571,910		probably benign	Het
Krtap5-2	T	C	7: 142,175,382		probably benign	Het
Lcn11	G	T	2: 25,778,120	G97*	probably null	Het
Lrrtm3	G	A	10: 63,930,164	T548M	probably benign	Het
Map3k2	A	T	18: 32,211,970	T283S	probably damaging	Het
Mast4	T	C	13: 102,735,985	K2292E	possibly damaging	Het
Med23	G	T	10: 24,888,413	C98F	probably damaging	Het
Morc1	T	A	16: 48,437,289	F26Y	probably damaging	Het
Muc5ac	T	A	7: 141,812,679	M2160K	probably benign	Het
Myocd	T	C	11: 65,218,570		probably null	Het
Nup160	T	A	2: 90,711,935		probably null	Het
Olfr812	T	A	10: 129,842,608	S145C	probably benign	Het
Olfr993	T	A	2: 85,414,687	Q64L	probably damaging	Het
Olr1	A	T	6: 129,493,559	L215Q	probably benign	Het
Pik3c2a	T	C	7: 116,348,205	K1414R	possibly damaging	Het
Ppfibp2	T	C	7: 107,681,769	V96A	probably benign	Het
Prim1	T	A	10: 128,023,835	Y299N	probably damaging	Het
Rnf219	A	G	14: 104,478,877	S687P	probably damaging	Het
Rsf1	T	C	7: 97,661,934	S624P	probably benign	Het
Samd4b	A	T	7: 28,401,593	I687N	probably damaging	Het
Sbf2	A	T	7: 110,372,623	F801L	probably damaging	Het
St6gal2	T	C	17: 55,482,013	I16T	probably damaging	Het
Tiam2	CGGG	CGGGG	17: 3,414,622		probably null	Het
Trim8	T	G	19: 46,515,358	S450A	probably benign	Het
Trp53bp2	A	G	1: 182,448,997	T848A	probably benign	Het
Vmn2r24	A	G	6: 123,806,409	S523G	possibly damaging	Het
Vmn2r52	T	A	7: 10,168,999	M501L	probably benign	Het
Vmn2r68	C	T	7: 85,233,840	V235M	possibly damaging	Het
Wdr66	G	A	5: 123,254,666		probably benign	Het
Zfhx3	G	A	8: 108,946,619	V1434M	probably damaging	Het
Zmym5	A	T	14: 56,794,165	N495K	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
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
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
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'- GCACAGATCATCTCCTGTGC -3'
(R):5'- TCTCCATGCAATTCCATACTACAAG -3'

Sequencing Primer
(F):5'- CAGATCATCTCCTGTGCTAGAGATG -3'
(R):5'- CTACAAGATTTACTGCCTAGTGGG -3'

Posted On

2018-04-27