Mutagenetix > Incidental Mutation

Incidental Mutation 'R6812:Dennd5b'

543610

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

044924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R6812 (G1)

Quality Score

72.0074

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 149081132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127731 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.0%
20x: 97.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	C	T	16: 56,795,798		probably benign	Het
Ak9	A	T	10: 41,367,167	M686L	unknown	Het
Ap3b1	A	T	13: 94,479,861	T757S	unknown	Het
Apob	A	T	12: 7,983,062	K139N	probably damaging	Het
Arid4a	A	G	12: 71,047,263	E270G	possibly damaging	Het
Atp1a2	A	T	1: 172,284,877	C515S	probably benign	Het
Bicd1	T	C	6: 149,409,537	Y37H	probably damaging	Het
Birc3	T	G	9: 7,854,417	D424A	probably damaging	Het
Ccdc97	A	T	7: 25,713,044	F324L	probably damaging	Het
Crim1	T	A	17: 78,315,600	I409N	probably damaging	Het
Cul7	T	A	17: 46,661,409	I1233N	probably benign	Het
Dcaf1	T	C	9: 106,858,069	S739P	probably damaging	Het
Ddb1	T	C	19: 10,622,499		probably null	Het
Dna2	A	G	10: 62,959,341	S464G	probably benign	Het
Dnah9	C	T	11: 65,981,329	V2692M	probably damaging	Het
Dvl2	T	C	11: 70,000,995	Y55H	probably damaging	Het
Eif4g3	G	T	4: 138,103,376	Q140H	probably damaging	Het
Enpp5	G	A	17: 44,085,576	V460M	probably benign	Het
Etv2	G	T	7: 30,634,001	C265*	probably null	Het
F12	T	C	13: 55,421,845	E146G	probably damaging	Het
Fdps	C	A	3: 89,094,476	E301D	possibly damaging	Het
Fsd2	G	T	7: 81,535,089	H686Q	probably benign	Het
Gk5	T	C	9: 96,150,749	S262P	probably damaging	Het
Gm20730	A	G	6: 43,081,788	V30A	probably benign	Het
Gpr68	C	A	12: 100,878,411	E291D	probably damaging	Het
Gucy2c	A	G	6: 136,697,995	V1006A	probably benign	Het
Itgb1	T	A	8: 128,705,410		probably null	Het
Kif2a	A	T	13: 106,969,751	D570E	probably benign	Het
Krt8	G	T	15: 101,997,979	A365D	probably damaging	Het
Lias	T	A	5: 65,408,789	V373E	possibly damaging	Het
Mpl	A	G	4: 118,455,264	V169A	probably benign	Het
Myh3	T	A	11: 67,086,402	I319N	probably damaging	Het
Myrfl	T	A	10: 116,832,913	K315I	probably damaging	Het
Nrap	T	C	19: 56,351,676	D803G	probably damaging	Het
Olfr1475	T	C	19: 13,479,611	T196A	probably benign	Het
Pald1	A	G	10: 61,342,922	S536P	possibly damaging	Het
Phka2	G	A	X: 160,533,048	V230I	probably damaging	Het
Prkaa2	T	A	4: 105,047,152	T243S	probably benign	Het
Prrc2b	T	A	2: 32,213,141	V877D	probably benign	Het
Rbm27	T	A	18: 42,333,403		probably null	Het
Rbm48	A	G	5: 3,596,105	V33A	probably benign	Het
Rev3l	G	T	10: 39,823,548	R1347L	probably benign	Het
Rnf219	A	G	14: 104,510,432	V40A	unknown	Het
Rtp3	A	G	9: 110,987,112	F124L	probably benign	Het
Ryr3	C	T	2: 112,946,906	G302D	probably damaging	Het
Scnn1a	A	G	6: 125,337,856	N314S	probably benign	Het
Sik3	C	T	9: 46,210,769	R907W	probably damaging	Het
Sox5	C	T	6: 144,116,443		probably null	Het
Tmc1	A	C	19: 20,900,861	L90R	probably damaging	Het
Tmtc2	A	G	10: 105,413,269	V201A	probably benign	Het
Uvrag	T	A	7: 98,888,482	H502L	probably benign	Het
Vwa8	T	A	14: 79,197,419	I1760N	probably damaging	Het
Zfp318	G	GAAGAAT	17: 46,412,542		probably benign	Het
Zfp772	T	C	7: 7,206,308	D61G	possibly damaging	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
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
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'- TTGAATGTTCTTCTCAGAGGACTC -3'
(R):5'- GTGGGTATAGTAATTACATGACACC -3'

Sequencing Primer
(F):5'- GAGGACTCTGATCAAAATTTTCACC -3'
(R):5'- CTCCTGAGTCCAGACTTTT -3'

Posted On

2019-03-29