Mutagenetix > Incidental Mutation

Incidental Mutation 'R4981:Dennd5b'

384823

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

042576-MU

Accession Numbers

Essential gene?

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

Stock #

R4981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149009772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 978 (L978F)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111557
AA Change: L978F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: L978F

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: ENSMUST00000129539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150436

Meta Mutation Damage Score

0.2701

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,048,987		probably null	Het
Aatf	T	C	11: 84,511,497	D121G	probably benign	Het
Amer2	T	A	14: 60,379,727	L331H	probably damaging	Het
Ang4	T	G	14: 51,764,372	K40Q	probably benign	Het
Aspm	A	C	1: 139,470,760		probably null	Het
Cacna1c	A	T	6: 118,751,471	D337E	probably benign	Het
Ccdc124	T	C	8: 70,868,785	E134G	probably benign	Het
Ccdc7a	G	T	8: 128,984,983	A312E	probably benign	Het
Ccdc84	A	T	9: 44,417,948	F14Y	probably damaging	Het
Cd209g	A	G	8: 4,136,845	D130G	probably damaging	Het
Cd320	T	C	17: 33,847,575	S96P	probably benign	Het
Clu	C	G	14: 65,973,366	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,160,777	H28L	probably benign	Het
Cntnap1	T	C	11: 101,176,333		probably null	Het
Col22a1	C	T	15: 71,861,066	C546Y	unknown	Het
Col6a3	C	T	1: 90,778,843	V2183I	unknown	Het
Cop1	A	G	1: 159,325,068		probably benign	Het
Cpne8	T	C	15: 90,679,235	I24V	probably benign	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Depdc1a	G	T	3: 159,523,913	M627I	probably benign	Het
Dnah3	A	T	7: 119,956,201	N2721K	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsg1b	A	G	18: 20,408,868	T811A	possibly damaging	Het
Emilin1	C	G	5: 30,919,351	Q847E	probably benign	Het
Epha3	A	T	16: 63,652,412	V370D	probably benign	Het
Epha5	T	A	5: 84,150,483	T406S	probably damaging	Het
Ephb1	A	T	9: 102,040,960	I450N	probably benign	Het
Ephb2	A	G	4: 136,696,010	M319T	probably benign	Het
Eps15l1	A	G	8: 72,378,989		probably null	Het
Fbxo9	G	A	9: 78,085,886		probably benign	Het
Fgd5	T	C	6: 91,989,300	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,765,830	F582L	probably damaging	Het
Frs3	T	C	17: 47,689,262		probably null	Het
Fscb	C	T	12: 64,473,619	V358I	possibly damaging	Het
Fus	G	T	7: 127,967,555		probably benign	Het
Fyb	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,646,611		probably benign	Het
Glra3	A	T	8: 55,991,235	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,570,436		noncoding transcript	Het
Gng3	G	A	19: 8,838,261	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,976,357		probably benign	Het
Herpud1	A	G	8: 94,391,794	Y41C	probably damaging	Het
Igkv4-92	G	C	6: 68,755,044	S115R	possibly damaging	Het
Ikbip	T	A	10: 91,095,986	I164N	probably benign	Het
Kank1	A	G	19: 25,411,395	T783A	probably benign	Het
Kcnq3	A	T	15: 66,031,405	V152E	possibly damaging	Het
Kif23	C	T	9: 61,931,871	R314H	probably damaging	Het
Klc4	T	C	17: 46,644,361	H49R	probably benign	Het
Klhl20	A	T	1: 161,103,005	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,841,276	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,399,454	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,176,447	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,741,791	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,484,905	T109S	probably benign	Het
Megf6	T	C	4: 154,267,450	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,211	V240D	probably damaging	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,224,474		probably benign	Het
Nav3	T	C	10: 109,880,692	I172V	probably benign	Het
Nemp1	T	A	10: 127,693,530	L178Q	probably damaging	Het
Numa1	T	C	7: 101,992,674	S110P	probably damaging	Het
Olfr1076	T	C	2: 86,508,827	Y123H	probably damaging	Het
Olfr1222	T	C	2: 89,125,501	T77A	probably benign	Het
Olfr1248	A	G	2: 89,617,425	Y256H	probably damaging	Het
Olfr1500	A	T	19: 13,828,094	F101I	probably damaging	Het
Olfr639	A	G	7: 104,012,105	I199T	probably damaging	Het
Olfr995	A	G	2: 85,438,469	S230P	probably damaging	Het
Pard3b	T	G	1: 62,344,060	M771R	probably damaging	Het
Phkg2	A	G	7: 127,582,379	I245V	probably damaging	Het
Pik3cg	A	T	12: 32,204,104	M628K	possibly damaging	Het
Poln	A	G	5: 34,107,085		probably null	Het
Ppip5k1	A	T	2: 121,312,390	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,870,462	H363L	probably damaging	Het
Prkdc	A	G	16: 15,678,309	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,692,547	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,849,421	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,199,999	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,751,658	V2366A	probably benign	Het
Stab2	T	A	10: 86,960,223	M387L	probably benign	Het
Syne2	T	G	12: 75,941,219	M1718R	probably damaging	Het
Synm	G	T	7: 67,734,487	F700L	probably benign	Het
Tmco4	T	C	4: 138,990,701	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,205,136	P168T	probably damaging	Het
Tril	G	T	6: 53,818,920	T439K	probably benign	Het
Trim2	A	G	3: 84,177,735	L559P	probably damaging	Het
Trim3	A	G	7: 105,619,128	V149A	probably damaging	Het
Triml2	A	G	8: 43,187,680	N191S	probably benign	Het
Usp4	A	G	9: 108,381,418	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,837,461	T670I	probably damaging	Het
Vmn2r97	G	T	17: 18,940,174	G524*	probably null	Het
Xpo5	C	A	17: 46,220,817	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,191	L84S	probably damaging	Het
Zranb2	T	G	3: 157,546,741		probably benign	Het
Zswim4	C	T	8: 84,226,667		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
R4654:Dennd5b	UTSW	6	149006837	missense	probably damaging	1.00
R4725:Dennd5b	UTSW	6	149044779	missense	probably damaging	0.97
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'- TCAGGTCTCTGGTCCTAAGG -3'
(R):5'- TAAAAGCATCGAGTTCTAGATCCTG -3'

Sequencing Primer
(F):5'- TAGGACCTGGTGAAGCCTACTAC -3'
(R):5'- AGCATCGAGTTCTAGATCCTGTGATG -3'

Posted On

2016-05-10