Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Dennd5b'

418036

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: 0.227) question?

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149027395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 760 (V760A)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: V760A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: V760A

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 63,971,432	H230Q	probably benign	Het
Aagab	T	A	9: 63,639,034		probably benign	Het
Actl11	G	T	9: 107,929,550	K357N	probably damaging	Het
Aktip	A	G	8: 91,126,023		probably null	Het
Amtn	A	G	5: 88,381,642		probably benign	Het
Arhgap21	T	A	2: 20,914,721	M58L	probably benign	Het
Art2b	T	A	7: 101,580,578	Y38F	probably damaging	Het
Asb10	T	C	5: 24,539,603		probably benign	Het
Atm	A	T	9: 53,484,171	D1699E	possibly damaging	Het
Azi2	A	C	9: 118,059,146	K259T	probably damaging	Het
Bcas3	A	G	11: 85,476,783	D77G	probably damaging	Het
Birc6	G	A	17: 74,596,950	R1246H	probably damaging	Het
Cdh13	C	A	8: 119,288,724	D559E	probably damaging	Het
Chrm3	C	T	13: 9,877,534	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,285,047	Y404N	probably benign	Het
Col18a1	A	G	10: 77,059,181		probably benign	Het
Col4a1	T	A	8: 11,222,198	K731*	probably null	Het
Corin	A	T	5: 72,353,930	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,701,712	H292P	possibly damaging	Het
Dhx57	T	C	17: 80,258,097	D842G	possibly damaging	Het
Emp2	C	A	16: 10,288,046		probably benign	Het
Eral1	G	A	11: 78,078,267	R136C	probably damaging	Het
Fat2	T	A	11: 55,283,246	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211	R304H	probably benign	Het
G6pd2	A	T	5: 61,810,302	E473D	probably benign	Het
Gpx8	A	G	13: 113,043,261	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,507,841	S19P	possibly damaging	Het
Ikbkb	G	T	8: 22,682,786	N139K	probably benign	Het
Inpp5b	A	T	4: 124,792,322	T720S	probably benign	Het
Kmt2d	C	A	15: 98,839,940		probably benign	Het
Lrig2	G	A	3: 104,467,259	P169S	probably damaging	Het
Magi3	T	A	3: 104,015,339	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,867,038	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,781,585	I75N	probably damaging	Het
Olfr402	T	A	11: 74,155,685	I177N	probably damaging	Het
Olfr890	A	G	9: 38,143,183	E16G	probably damaging	Het
Olfr926	G	A	9: 38,877,663	M162I	probably benign	Het
Otog	G	T	7: 46,305,922		probably null	Het
Pex11a	A	G	7: 79,737,775	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,311,522	T687A	probably benign	Het
Ppm1d	A	G	11: 85,337,163	I302V	probably null	Het
Prdm11	C	A	2: 92,974,959	V549F	possibly damaging	Het
Prss54	G	A	8: 95,565,630	P107L	probably benign	Het
Rasa3	T	A	8: 13,585,690	N422I	probably benign	Het
Rbm27	T	C	18: 42,327,524		probably benign	Het
Rpl13-ps3	A	T	14: 58,893,707		noncoding transcript	Het
Rps6ka2	G	A	17: 7,295,280		probably null	Het
Sphkap	T	A	1: 83,280,354	I223F	possibly damaging	Het
Srm	T	C	4: 148,593,381	F159L	probably damaging	Het
Stt3a	A	G	9: 36,732,970		probably benign	Het
Tacr3	T	C	3: 134,932,266	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,954,826		probably benign	Het
Tmub1	C	T	5: 24,446,098	G188S	probably damaging	Het
Trim66	T	A	7: 109,458,745	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,568	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,137,311	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,452,158	D39E	probably damaging	Het
Wee1	C	A	7: 110,124,598	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,127,020	V10D	probably benign	Het
Zzef1	T	C	11: 72,855,524		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
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

2016-08-02