Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02226:Dennd5b'

285334

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 #

IGL02226

Quality Score

Status

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149033301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 691 (S691P)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557
AA Change: S691P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: S691P

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: ENSMUST00000150436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204583

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	C	X: 89,931,912	D226E	probably damaging	Het
Akap6	T	C	12: 53,010,467		probably benign	Het
Ankrd11	G	A	8: 122,892,245	R1602W	probably damaging	Het
Arhgap23	G	T	11: 97,451,600	R236L	probably benign	Het
Aurkaip1	T	C	4: 155,832,571	V92A	probably benign	Het
Cdh20	A	T	1: 104,954,091		probably benign	Het
Ctnnd2	A	G	15: 30,847,336	N691S	probably benign	Het
Ddx24	A	C	12: 103,424,458	D2E	possibly damaging	Het
Dhrs3	C	T	4: 144,923,949	R248W	possibly damaging	Het
Dlgap1	T	C	17: 70,516,034	S5P	probably damaging	Het
Ep300	A	T	15: 81,613,412	M510L	unknown	Het
Fbxo25	T	C	8: 13,923,922		probably benign	Het
Gm3252	A	T	14: 4,743,741	K193M	possibly damaging	Het
Gtf3c1	T	C	7: 125,667,990		probably null	Het
Helz2	T	C	2: 181,231,690	D2337G	probably damaging	Het
Idh1	A	T	1: 65,161,922	M290K	probably damaging	Het
Layn	T	C	9: 51,074,017	S80G	probably damaging	Het
Ltbp4	C	T	7: 27,306,934	E1440K	probably damaging	Het
Mri1	T	C	8: 84,256,295	T166A	probably damaging	Het
Myod1	C	T	7: 46,378,306	T290I	probably benign	Het
Nfat5	T	A	8: 107,351,522	L431*	probably null	Het
Nle1	A	T	11: 82,904,307	Y299*	probably null	Het
Nlrp4c	T	A	7: 6,066,829	F576L	possibly damaging	Het
Nudt21	G	T	8: 94,019,701	S123*	probably null	Het
Plekhg1	A	C	10: 3,945,916	D436A	probably damaging	Het
Plxna2	T	C	1: 194,644,424	V222A	probably damaging	Het
Rbm14	A	G	19: 4,801,717		probably benign	Het
Scfd1	T	A	12: 51,389,381		probably benign	Het
Slc34a2	A	G	5: 53,067,731	T405A	probably benign	Het
Slc39a9	T	A	12: 80,644,921	M14K	probably damaging	Het
Slc39a9	G	A	12: 80,644,922	M14I	probably damaging	Het
Spast	G	A	17: 74,372,339		probably benign	Het
Spen	T	C	4: 141,478,146	R1057G	unknown	Het
Sptbn4	T	G	7: 27,365,707	T2056P	probably damaging	Het
Ssrp1	T	C	2: 85,040,361	L148P	probably damaging	Het
Tdrd6	T	A	17: 43,627,202	H985L	probably damaging	Het
Tmem44	A	G	16: 30,539,381		probably benign	Het
Vmn2r116	T	A	17: 23,384,834	L11Q	probably null	Het
Wdr78	A	T	4: 103,090,398	I227K	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
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
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	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

2015-04-16