Mutagenetix > Incidental Mutations

Incidental Mutation 'R1641:Dennd5b'

173530

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

039677-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 149068205 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 250 (V250G)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111557] [ENSMUST00000127727] [ENSMUST00000145555]

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: V250G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: V250G

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: ENSMUST00000121283

Predicted Effect

probably benign
Transcript: ENSMUST00000127727

SMART Domains

Protein: ENSMUSP00000123568
Gene: ENSMUSG00000030313

Domain	Start	End	E-Value	Type
uDENN	18	142	5.45e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145555

SMART Domains

Protein: ENSMUSP00000127731
Gene: ENSMUSG00000030313

Domain	Start	End	E-Value	Type
uDENN	1	42	3.03e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150436

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,228,959	T2230A	probably benign	Het
Aasdh	T	A	5: 76,891,779	T228S	probably benign	Het
Adamts2	C	T	11: 50,792,785	P965S	probably damaging	Het
Ankrd11	A	G	8: 122,891,746	I1768T	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Baz2b	A	T	2: 59,912,890	L1579Q	probably damaging	Het
Btbd7	A	G	12: 102,790,775	V684A	probably damaging	Het
Camk1g	T	A	1: 193,356,357	I86F	probably benign	Het
Capn13	A	T	17: 73,382,894	S41T	possibly damaging	Het
Cep192	C	A	18: 67,847,433	L1422I	probably damaging	Het
Chaf1a	T	C	17: 56,047,380	F217L	unknown	Het
Clca3b	A	T	3: 144,823,513	M800K	possibly damaging	Het
Crocc	A	G	4: 141,017,077	V1836A	probably benign	Het
Csmd2	G	A	4: 128,483,395	V2023M	possibly damaging	Het
Cul9	A	G	17: 46,543,560	V72A	possibly damaging	Het
Ddx52	T	C	11: 83,943,443		probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Gtpbp4	A	T	13: 8,973,249	M593K	probably benign	Het
Il21	A	G	3: 37,232,532	F12L	probably benign	Het
Lrit2	T	A	14: 37,069,148	N261K	probably benign	Het
Lrrc39	G	T	3: 116,570,913	C151F	probably damaging	Het
Lsm14a	C	A	7: 34,351,374	R426L	probably damaging	Het
Maml1	G	A	11: 50,266,947	P134S	probably benign	Het
Map3k13	T	C	16: 21,903,792	C235R	probably damaging	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nsmaf	T	C	4: 6,409,884	E663G	probably benign	Het
Ntrk3	T	C	7: 78,356,074	N513S	probably damaging	Het
Nufip1	T	G	14: 76,126,252	N305K	possibly damaging	Het
Olfr121	C	T	17: 37,752,025	T57I	possibly damaging	Het
Olfr1257	A	T	2: 89,881,401	T192S	probably benign	Het
Olfr575	T	A	7: 102,954,968	D218V	probably benign	Het
Olfr694	T	A	7: 106,689,711	T7S	probably benign	Het
Olfr823	A	T	10: 130,112,003	Y262*	probably null	Het
Pi4ka	A	G	16: 17,377,030	V168A	probably benign	Het
Prex2	T	C	1: 11,231,772	V1433A	probably damaging	Het
Prl7a1	A	T	13: 27,633,629	D217E	probably damaging	Het
Prr3	G	A	17: 35,974,592	R86*	probably null	Het
Ptprz1	T	C	6: 23,049,606	F1350L	probably damaging	Het
R3hcc1l	T	C	19: 42,563,607	S348P	possibly damaging	Het
Rag2	A	T	2: 101,629,615	Q90L	probably benign	Het
Scel	T	C	14: 103,533,316	L62P	probably damaging	Het
Serpini1	A	T	3: 75,614,670	E156V	possibly damaging	Het
Skint4	T	A	4: 112,136,043	I321K	possibly damaging	Het
Slc28a2	A	G	2: 122,455,617	D478G	probably damaging	Het
Sppl2b	G	T	10: 80,865,131	V164F	probably damaging	Het
Traf5	T	A	1: 191,997,509	N527I	probably benign	Het
Ttc3	T	A	16: 94,443,317	D17E	probably benign	Het
Txlnb	G	A	10: 17,806,773	A148T	possibly damaging	Het
Ubtf	A	G	11: 102,310,931	Y256H	probably damaging	Het
Usp25	T	C	16: 77,071,671	F320S	possibly damaging	Het
Utp14b	T	C	1: 78,665,939	V518A	probably benign	Het
Utp20	A	G	10: 88,757,972	V2192A	possibly damaging	Het
Vmn1r173	T	A	7: 23,703,108	M256K	probably benign	Het
Vmn2r114	T	A	17: 23,296,988	M510L	probably benign	Het
Xdh	T	A	17: 73,926,552	Q189L	probably benign	Het
Zfat	C	T	15: 68,180,110	A605T	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTGCTGTGTATGTCTGTAGCCAC -3'
(R):5'- TTCATGCAAGCCTGCAAGAAATTCC -3'

Sequencing Primer
(F):5'- CTGTAGCCACTGATACTTCAAAGG -3'
(R):5'- AGCCTGCAAGAAATTCCTCTTC -3'

Posted On

2014-04-24