Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03329:Dennd5b'

416790

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

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL03329

Quality Score

Status

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 148998260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1213 (T1213K)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111557
AA Change: T1213K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: T1213K

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,298,047	D2598G	probably benign	Het
Abcf2	T	G	5: 24,571,248		probably null	Het
Acsl1	T	A	8: 46,492,994	C55S	possibly damaging	Het
Adam22	T	A	5: 8,149,210	M249L	possibly damaging	Het
Alk	A	G	17: 71,899,164		probably benign	Het
Ambn	T	G	5: 88,461,668	S78R	probably benign	Het
Apbb1ip	T	A	2: 22,867,717	V449D	possibly damaging	Het
Atp13a5	A	T	16: 29,334,065	Y194*	probably null	Het
Cacul1	A	T	19: 60,543,051	F260Y	probably damaging	Het
Cfap46	A	G	7: 139,601,165	I2640T	probably damaging	Het
Chd7	T	C	4: 8,841,108	S1446P	probably damaging	Het
Clcn2	G	A	16: 20,712,152	T276I	probably damaging	Het
Dcbld1	T	G	10: 52,319,625	Y310D	probably damaging	Het
Dennd4c	G	A	4: 86,777,876	V157I	probably damaging	Het
Dusp8	A	T	7: 142,084,360	L177*	probably null	Het
Erbb4	T	C	1: 68,328,122	S479G	probably benign	Het
Gpbp1	T	A	13: 111,453,253		probably benign	Het
Hmcn1	T	A	1: 150,732,910	Q1507L	probably damaging	Het
Inppl1	G	T	7: 101,824,380	T1021K	possibly damaging	Het
Klk1b9	A	G	7: 43,979,414	E114G	probably benign	Het
Klre1	T	C	6: 129,585,697		probably benign	Het
Lancl1	T	C	1: 67,021,050	Y72C	probably damaging	Het
Lexm	G	T	4: 106,607,404	R353S	possibly damaging	Het
Lilra6	A	G	7: 3,914,648		probably benign	Het
Magi2	T	C	5: 20,466,128	V490A	possibly damaging	Het
Myo3b	T	A	2: 70,254,459	N720K	probably damaging	Het
Olfr1018	A	C	2: 85,823,385	D138A	probably benign	Het
Olfr857	T	C	9: 19,713,301	V158A	probably benign	Het
Ppp2r3a	T	A	9: 101,126,431		probably benign	Het
Rbm47	T	C	5: 66,026,693	D189G	probably damaging	Het
Scn2a	G	A	2: 65,764,629	D1941N	probably benign	Het
Sgpp2	T	C	1: 78,390,563	I111T	probably benign	Het
Sh3bp2	T	C	5: 34,559,202	V319A	probably benign	Het
Slc12a3	A	C	8: 94,365,891	Q980P	possibly damaging	Het
Slc39a8	G	T	3: 135,884,713	G389V	probably damaging	Het
Slc5a3	T	C	16: 92,077,460	I135T	probably damaging	Het
Smu1	A	G	4: 40,739,568	V414A	possibly damaging	Het
Tlr12	A	G	4: 128,616,852	F535S	possibly damaging	Het
Trim47	A	G	11: 116,106,428	V501A	probably damaging	Het
Vmn1r16	A	T	6: 57,323,618	N6K	probably damaging	Het
Vwce	G	A	19: 10,659,996	C711Y	possibly damaging	Het
Wdr25	C	T	12: 108,898,336	L136F	probably benign	Het
Xpo1	A	G	11: 23,284,306	Q437R	probably benign	Het
Zfp169	C	A	13: 48,490,794		probably benign	Het
Zfp607b	A	T	7: 27,703,870	I584F	probably damaging	Het
Zzef1	T	A	11: 72,917,273		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
IGL02820:Dennd5b	APN	6	149019342	missense	probably null	0.51
IGL03056:Dennd5b	APN	6	149055072	missense	probably damaging	1.00
IGL03085:Dennd5b	APN	6	149027395	missense	probably damaging	1.00
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	splice site	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	splice site	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
R7854:Dennd5b	UTSW	6	149068466	missense	probably benign	0.00
R7899:Dennd5b	UTSW	6	149041661	missense	probably damaging	1.00
R8226:Dennd5b	UTSW	6	149014248	splice site	probably null
R8328:Dennd5b	UTSW	6	149020617	missense	probably damaging	1.00
R8489:Dennd5b	UTSW	6	149084891	missense	probably benign	0.00
R8517:Dennd5b	UTSW	6	149029121	missense	probably damaging	1.00
R8556:Dennd5b	UTSW	6	148993770	missense	probably damaging	1.00
R8693:Dennd5b	UTSW	6	149009774	nonsense	probably null
R8946:Dennd5b	UTSW	6	149041987	intron	probably benign
R8966:Dennd5b	UTSW	6	148999976	missense	probably damaging	1.00
R9122:Dennd5b	UTSW	6	149006742	missense
R9178:Dennd5b	UTSW	6	149033346	nonsense	probably null
R9208:Dennd5b	UTSW	6	149101200	missense	probably benign	0.09
R9465:Dennd5b	UTSW	6	149006762	missense	probably damaging	1.00
R9535:Dennd5b	UTSW	6	148993867	missense	probably benign	0.03
R9541:Dennd5b	UTSW	6	148998374	missense	probably benign	0.00
R9731:Dennd5b	UTSW	6	149068640	missense	probably damaging	1.00
R9760:Dennd5b	UTSW	6	149068499	missense	probably benign	0.14
R9783:Dennd5b	UTSW	6	149009844	missense	probably damaging	1.00

Posted On

2016-08-02