Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Dennd5b'

481120

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

044175-MU

Accession Numbers

Essential gene?

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

Stock #

R5996 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149068095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 287 (F287L)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557
AA Change: F287L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: F287L

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

Meta Mutation Damage Score

0.1715

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,518,928	M1T	probably null	Het
4932438A13Rik	T	C	3: 36,931,116	F865S	probably benign	Het
A2m	T	A	6: 121,659,394	W741R	probably damaging	Het
Abcb8	C	T	5: 24,400,139	R108C	possibly damaging	Het
Acan	A	G	7: 79,111,320	T1927A	probably damaging	Het
Agbl4	A	G	4: 110,955,672		probably null	Het
Ccr8	T	A	9: 120,094,463	C215S	probably damaging	Het
Cd209b	T	C	8: 3,918,688	T314A	probably benign	Het
Cd244	T	G	1: 171,581,640		probably null	Het
Cdh23	T	C	10: 60,413,577	E849G	possibly damaging	Het
Cep57	A	G	9: 13,809,879	V268A	probably damaging	Het
Clip4	T	C	17: 71,856,310	S626P	probably damaging	Het
Col19a1	C	T	1: 24,328,071	G477R	probably damaging	Het
Col4a4	T	C	1: 82,455,728	D1498G	unknown	Het
Coro6	T	C	11: 77,466,496	V177A	probably benign	Het
Crip3	T	C	17: 46,431,284	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,158,460	C38R	probably damaging	Het
Cyp4f13	C	T	17: 32,929,473	G327R	possibly damaging	Het
Dab2	C	T	15: 6,435,311	Q415*	probably null	Het
Dlg4	G	A	11: 70,017,231	R6K	probably benign	Het
Edc4	A	G	8: 105,887,401	K429E	probably damaging	Het
Fam107b	T	A	2: 3,779,630		probably null	Het
Flt4	A	T	11: 49,651,070	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,159,824		probably benign	Het
Gm35060	G	T	18: 32,462,492		probably benign	Het
Gm4894	A	T	9: 49,278,670	I82L	unknown	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Gpr176	A	C	2: 118,283,904		probably null	Het
Gtse1	T	C	15: 85,864,180	L262P	probably benign	Het
Il4ra	T	C	7: 125,567,221	W46R	probably damaging	Het
Itga11	A	G	9: 62,755,673	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,434,830		probably null	Het
Kcnh7	G	A	2: 63,184,097		probably benign	Het
Ly9	T	A	1: 171,601,828	Q230L	probably damaging	Het
Map2	C	A	1: 66,414,884	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,497,906	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,905,245	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,797,763	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269	P192L	probably damaging	Het
Mrpl37	T	C	4: 107,066,507	T97A	probably benign	Het
Mycbpap	C	T	11: 94,513,594	G121D	probably benign	Het
Nabp1	A	G	1: 51,471,385	S153P	probably benign	Het
Nsun3	A	T	16: 62,769,686	F222I	probably benign	Het
Olfr735	A	G	14: 50,345,512	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,685,938	D180V	probably benign	Het
Pex6	C	A	17: 46,714,458		probably null	Het
Phrf1	C	A	7: 141,259,102		probably benign	Het
Ppp1r36	A	G	12: 76,439,162	T365A	possibly damaging	Het
Ranbp10	A	G	8: 105,773,040	M519T	probably benign	Het
Rfx4	G	A	10: 84,840,017	W32*	probably null	Het
Ryr1	T	C	7: 29,024,241	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,612,234	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,209,236	D719G	probably benign	Het
Slfn9	A	G	11: 82,987,484	I273T	possibly damaging	Het
Spice1	A	G	16: 44,384,674	E781G	probably benign	Het
Sspo	C	T	6: 48,494,176	P4686S	possibly damaging	Het
Stab1	G	T	14: 31,139,551	R2500S	probably benign	Het
Stox2	A	T	8: 47,203,147	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,623,483	S633P	probably damaging	Het
Tm9sf4	T	C	2: 153,195,571		probably null	Het
Togaram2	T	A	17: 71,704,783	F486I	probably damaging	Het
Trappc12	A	G	12: 28,747,114	S140P	possibly damaging	Het
Ttc29	A	T	8: 78,276,896	N247I	probably damaging	Het
Uso1	A	T	5: 92,192,730	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,411,909		probably null	Het
Xirp2	T	A	2: 67,511,650	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,310,458	D15E	probably damaging	Het
Zfp661	T	C	2: 127,577,048	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,593,858	I106T	probably benign	Het
Zfyve9	A	C	4: 108,719,360	S175A	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
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
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'- TGCTGTGTATGTCTGTAGCCAC -3'
(R):5'- CAATATTCTCTACGAGGTGCCCC -3'

Sequencing Primer
(F):5'- GTCTGTAGCCACTGATACTTCAAAGG -3'
(R):5'- TACGAGGTGCCCCTTCCG -3'

Posted On

2017-06-26