Mutagenetix > Incidental Mutation

Incidental Mutation 'R4654:Dennd5b'

351539

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

041914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149006837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 986 (N986S)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: N986S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: N986S

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: ENSMUST00000117470

Meta Mutation Damage Score

0.4750

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (98/101)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230113P08Rik	T	A	9: 35,908,991	C4S	probably damaging	Het
Adam3	A	T	8: 24,703,803	C398S	probably damaging	Het
Adamts10	A	G	17: 33,537,330	K316E	possibly damaging	Het
AI314180	A	T	4: 58,834,523	I785N	possibly damaging	Het
Ap1m1	T	C	8: 72,252,873	F238L	possibly damaging	Het
Aph1a	T	A	3: 95,895,776	D180E	probably benign	Het
Atp9b	A	G	18: 80,891,878	F201L	probably benign	Het
Btbd9	A	C	17: 30,485,587		probably benign	Het
C2cd5	T	C	6: 143,030,184	T768A	probably benign	Het
Casq1	C	T	1: 172,210,398		probably benign	Het
Cltc	A	T	11: 86,726,370	M351K	probably benign	Het
Cnp	A	G	11: 100,579,051	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,973,695	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279	S117P	probably benign	Het
Cyp2b13	T	C	7: 26,061,647	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,436,457	V500A	probably benign	Het
Dclk2	T	C	3: 86,836,376	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,859,519	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,253,488	*429W	probably null	Het
Dusp9	G	A	X: 73,640,772	R182Q	probably benign	Het
Edil3	A	G	13: 89,289,470	K397E	probably damaging	Het
Ehd1	T	C	19: 6,276,964		probably benign	Het
Fam13a	A	T	6: 58,987,167	H93Q	probably benign	Het
Fam207a	T	C	10: 77,490,026	M170V	possibly damaging	Het
Fam69a	T	C	5: 107,910,116		probably null	Het
Farp1	T	C	14: 121,276,304	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,765,429	I216F	probably damaging	Het
Gadl1	G	A	9: 115,941,340	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,380,979	V122A	probably damaging	Het
Hdac10	C	T	15: 89,126,833		probably benign	Het
Heatr5b	T	C	17: 78,820,701	S502G	possibly damaging	Het
Hr	C	A	14: 70,563,573	A695E	probably damaging	Het
Ift80	A	T	3: 68,918,537	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,834,184		probably benign	Het
Iqch	T	G	9: 63,524,913	Y400S	probably damaging	Het
Jag2	C	T	12: 112,913,646	D702N	probably benign	Het
Kiss1r	T	A	10: 79,921,790	L326Q	probably damaging	Het
Lexm	C	A	4: 106,610,415	M341I	probably benign	Het
Lrrc42	A	T	4: 107,247,549	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,196,536	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,765,681	S1674P	probably damaging	Het
Mctp2	A	G	7: 72,090,194	L816P	probably damaging	Het
Mipol1	A	T	12: 57,306,132	T86S	probably benign	Het
Mkrn3	C	T	7: 62,419,704	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849	V302A	probably benign	Het
Msc	A	T	1: 14,755,829		probably null	Het
Msmo1	C	A	8: 64,727,854	V9L	probably benign	Het
Nbeal2	G	A	9: 110,632,004	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,133,701	V12I	possibly damaging	Het
Npas3	T	C	12: 54,062,132		probably null	Het
Nr2e3	A	G	9: 59,949,072		probably benign	Het
Oca2	C	T	7: 56,328,812	A576V	probably benign	Het
Olfr1444	T	A	19: 12,862,232	C152*	probably null	Het
Olfr212	T	C	6: 116,516,448	Y224H	probably damaging	Het
Olfr5	T	C	7: 6,481,046	T37A	probably benign	Het
Parp6	A	G	9: 59,641,100		probably null	Het
Phlpp1	A	T	1: 106,339,501	M715L	probably benign	Het
Pi4k2a	G	A	19: 42,113,105		probably null	Het
Pik3ap1	A	G	19: 41,327,909	S305P	probably damaging	Het
Plcg2	G	A	8: 117,504,315	M45I	probably benign	Het
Ppm1m	A	T	9: 106,196,402	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,558,799	M341R	probably benign	Het
Prdx3	A	G	19: 60,865,236	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,163,047	V773A	possibly damaging	Het
Raly	T	C	2: 154,857,456	V60A	probably damaging	Het
Reps1	A	G	10: 18,114,400	D420G	probably damaging	Het
Rev1	A	T	1: 38,079,256		probably benign	Het
Rgs2	T	G	1: 144,002,912		probably benign	Het
Rlf	G	T	4: 121,150,601	T394K	probably benign	Het
Rptn	A	T	3: 93,397,485	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,572,574	M402K	probably benign	Het
Skiv2l	A	G	17: 34,849,946	C26R	probably damaging	Het
Smpd4	A	G	16: 17,642,128		probably benign	Het
Synj2	A	G	17: 6,013,538	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,707,365	F64I	probably benign	Het
Tex21	A	C	12: 76,217,086	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,720,971	V145A	probably benign	Het
Ttn	C	T	2: 76,786,592		probably benign	Het
Uggt2	A	G	14: 119,032,258	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,486,224	S175P	probably damaging	Het
Vcl	A	G	14: 20,985,752		probably null	Het
Vegfa	A	T	17: 46,025,250		probably benign	Het
Vmn2r68	G	A	7: 85,233,561	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,719,443	Y142H	probably benign	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Ybx3	G	T	6: 131,370,327	R282S	probably damaging	Het
Zfp566	T	C	7: 30,077,769	H329R	probably damaging	Het
Zfp786	T	C	6: 47,820,934	I357V	probably benign	Het
Zfr2	C	A	10: 81,251,249		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCATTCAAGAGGCAGTGGG -3'
(R):5'- CTCATTGTATGAAGGTCCCCTGAG -3'

Sequencing Primer
(F):5'- GTCCGTTTACTCACCTGTA -3'
(R):5'- GGTCCCCTGAGAGCAAAGAC -3'

Posted On

2015-10-08