Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02820:Dennd5b'

360975

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

IGL02820

Quality Score

Status

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149019342 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 851 (R851G)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111557]

Predicted Effect

probably null
Transcript: ENSMUST00000111557
AA Change: R851G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: R851G

Domain	Start	End	E-Value	Type
uDENN	18	120	9.96e-39	SMART
low complexity region	145	161	N/A	INTRINSIC
DENN	187	375	2.97e-78	SMART
dDENN	498	574	5.92e-23	SMART
RUN	866	929	2.13e-22	SMART
Pfam:PLAT	938	1043	1.7e-12	PFAM
low complexity region	1070	1081	N/A	INTRINSIC
RUN	1205	1265	8.42e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150436

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	T	C	12: 24,074,416	Y86C	probably benign	Het
Adgra2	G	A	8: 27,117,507	V47M	probably damaging	Het
Anks1b	T	C	10: 90,077,059	C349R	possibly damaging	Het
Anks4b	A	T	7: 120,182,691		probably benign	Het
Apobec2	A	G	17: 48,423,267	S124P	probably damaging	Het
Brd8	G	A	18: 34,607,301	S493L	probably benign	Het
Cbln3	A	G	14: 55,883,487	Y126H	probably damaging	Het
Ccdc138	T	C	10: 58,528,899		probably benign	Het
Cckbr	C	T	7: 105,434,031	A147V	probably damaging	Het
Ceacam2	T	A	7: 25,519,986	H283L	probably damaging	Het
Clasp1	A	G	1: 118,551,104	D718G	possibly damaging	Het
Clmn	A	T	12: 104,773,234	Y979N	probably damaging	Het
Ddias	T	C	7: 92,859,343	T455A	probably benign	Het
Dock1	T	C	7: 135,167,215	V1771A	probably benign	Het
Dysf	T	A	6: 84,100,205	L694Q	probably damaging	Het
Faim2	T	C	15: 99,521,257	Y77C	probably benign	Het
Fbxw22	A	T	9: 109,386,664	I172N	probably damaging	Het
Fhad1	C	T	4: 141,918,758	D298N	probably benign	Het
Fyb	T	G	15: 6,658,559	V800G	possibly damaging	Het
Gcm1	T	C	9: 78,064,562	F262L	probably benign	Het
Gm21983	T	C	7: 27,180,180	M121V	probably benign	Het
Gm9996	A	T	10: 29,143,661		probably benign	Het
Gstm3	A	T	3: 107,968,758		probably benign	Het
Gsto2	G	T	19: 47,874,959	E91D	probably damaging	Het
Hs6st3	G	T	14: 119,139,080	M222I	possibly damaging	Het
Ighv3-6	T	C	12: 114,288,230	D90G	probably damaging	Het
Itgb1bp1	C	T	12: 21,276,853	A40T	possibly damaging	Het
Kcns3	C	T	12: 11,091,871	E276K	probably benign	Het
Lamc3	C	T	2: 31,923,022	R1007C	probably damaging	Het
Lnx2	A	T	5: 147,042,067	M125K	probably damaging	Het
Lyst	T	A	13: 13,638,058	N1018K	probably benign	Het
Mctp2	T	A	7: 72,245,542	S186C	probably damaging	Het
Mettl7a1	C	A	15: 100,305,052	S51*	probably null	Het
Olfr352	A	T	2: 36,869,859	T98S	probably benign	Het
Polg	T	C	7: 79,459,771	T433A	possibly damaging	Het
Rdh13	C	T	7: 4,435,060	V127M	probably damaging	Het
Rdh16	A	G	10: 127,813,601	T309A	probably benign	Het
Reep5	A	T	18: 34,373,259	D21E	probably benign	Het
Rptn	A	T	3: 93,396,920	N520I	probably benign	Het
Rttn	T	C	18: 89,028,998	L928P	probably damaging	Het
Slc44a2	A	G	9: 21,342,977	I212V	probably benign	Het
Snupn	A	G	9: 56,963,048	T71A	probably benign	Het
Ssu2	T	C	6: 112,382,392	N89S	probably benign	Het
Thsd7a	A	G	6: 12,321,072	S1535P	probably damaging	Het
Uba7	A	T	9: 107,981,516	S849C	probably benign	Het
Vmn2r80	A	G	10: 79,171,605	T472A	probably benign	Het
Wdr6	A	G	9: 108,578,544	I17T	probably benign	Het
Wdr66	A	G	5: 123,254,636		probably benign	Het
Xkr9	G	A	1: 13,700,949	V230I	probably benign	Het

Other mutations in Dennd5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Dennd5b	APN	6	149027330	missense	probably damaging	1.00
IGL00590:Dennd5b	APN	6	149068308	missense	probably benign	0.03
IGL00727:Dennd5b	APN	6	149006716	splice site	probably benign
IGL00838:Dennd5b	APN	6	149005363	splice site	probably benign
IGL01115:Dennd5b	APN	6	149009748	splice site	probably benign
IGL01150:Dennd5b	APN	6	149068085	missense	probably benign	0.01
IGL01873:Dennd5b	APN	6	149044529	missense	probably benign
IGL01991:Dennd5b	APN	6	149080824	missense	probably damaging	1.00
IGL02226:Dennd5b	APN	6	149033301	missense	probably benign	0.00
IGL03056:Dennd5b	APN	6	149055072	missense	probably damaging	1.00
IGL03085:Dennd5b	APN	6	149027395	missense	probably damaging	1.00
IGL03329:Dennd5b	APN	6	148998260	missense	possibly damaging	0.53
R0081:Dennd5b	UTSW	6	148993759	missense	probably benign	0.13
R0617:Dennd5b	UTSW	6	149033262	splice site	probably benign
R1241:Dennd5b	UTSW	6	149068490	missense	probably benign	0.06
R1252:Dennd5b	UTSW	6	149044487	missense	probably damaging	1.00
R1255:Dennd5b	UTSW	6	149041650	missense	possibly damaging	0.48
R1641:Dennd5b	UTSW	6	149068205	missense	probably damaging	1.00
R1674:Dennd5b	UTSW	6	148998284	missense	probably damaging	1.00
R1781:Dennd5b	UTSW	6	149027398	missense	probably damaging	1.00
R1861:Dennd5b	UTSW	6	149068262	missense	probably damaging	1.00
R1907:Dennd5b	UTSW	6	149041576	missense	probably benign	0.00
R2412:Dennd5b	UTSW	6	149005238	missense	possibly damaging	0.88
R3794:Dennd5b	UTSW	6	149101217	missense	possibly damaging	0.87
R3825:Dennd5b	UTSW	6	149044836	missense	probably benign
R4581:Dennd5b	UTSW	6	149016984	splice site	silent
R4654:Dennd5b	UTSW	6	149006837	missense	probably damaging	1.00
R4725:Dennd5b	UTSW	6	149044779	missense	probably damaging	0.97
R4981:Dennd5b	UTSW	6	149009772	missense	possibly damaging	0.88
R4994:Dennd5b	UTSW	6	149041500	intron	probably null
R5400:Dennd5b	UTSW	6	149000016	missense	probably damaging	1.00
R5452:Dennd5b	UTSW	6	149041513	splice site	probably null
R5548:Dennd5b	UTSW	6	149019349	synonymous	probably null
R5841:Dennd5b	UTSW	6	149044755	missense	probably benign	0.11
R5996:Dennd5b	UTSW	6	149068095	missense	probably benign	0.22
R6082:Dennd5b	UTSW	6	149068695	missense	probably damaging	0.99
R6556:Dennd5b	UTSW	6	149014251	splice site	probably null
R6812:Dennd5b	UTSW	6	149081132	start gained	probably benign
R6828:Dennd5b	UTSW	6	148993746	missense	probably damaging	0.99
R7104:Dennd5b	UTSW	6	149044604	missense	probably damaging	1.00
R7231:Dennd5b	UTSW	6	149044604	missense	probably damaging	1.00
R7325:Dennd5b	UTSW	6	149020570	missense	probably benign	0.00
R7399:Dennd5b	UTSW	6	149036483	missense	probably damaging	1.00
R7516:Dennd5b	UTSW	6	149068380	missense	probably benign	0.02
R7751:Dennd5b	UTSW	6	149017106	missense	probably benign	0.01
R7763:Dennd5b	UTSW	6	149068658	missense	probably damaging	1.00
R7770:Dennd5b	UTSW	6	149041716	missense	probably damaging	0.99
R7788:Dennd5b	UTSW	6	149068566	missense	probably benign	0.00

Posted On

2015-12-18