Mutagenetix > Incidental Mutation

Incidental Mutation 'R8226:Dennd5b'

656342

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R8226 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 149014248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.7%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,218,199	N27S	probably damaging	Het
Abcb1b	T	A	5: 8,821,390	Y315N	probably damaging	Het
Acy1	A	G	9: 106,437,658	I22T	probably damaging	Het
Akap11	G	A	14: 78,511,209	T1246M		Het
Akr1b3	G	C	6: 34,311,932	T114R	probably damaging	Het
Apob	G	A	12: 8,009,056	V2513I	probably benign	Het
Arhgap21	C	T	2: 20,871,745	D820N	probably damaging	Het
Arl2	A	T	19: 6,137,476		probably null	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bmp5	C	T	9: 75,776,324	P78S	probably damaging	Het
Cic	T	C	7: 25,287,788	C1374R	probably damaging	Het
Dhx36	A	G	3: 62,470,570	Y1000H	probably benign	Het
Dnah14	A	G	1: 181,795,545	E3996G	possibly damaging	Het
Efcab6	T	C	15: 83,904,255	Y946C	probably benign	Het
Egfem1	A	G	3: 29,657,255	K328E	probably damaging	Het
F5	T	C	1: 164,194,390	V1478A	probably benign	Het
Fchsd2	C	T	7: 101,282,472	P745L	probably damaging	Het
Gm15448	A	C	7: 3,825,110	L66R		Het
Gm9573	T	C	17: 35,619,707		probably benign	Het
Grb10	G	T	11: 11,951,533	L214M	probably damaging	Het
H6pd	A	G	4: 149,995,989	V133A	probably benign	Het
Irak4	T	A	15: 94,558,363	L277Q	probably damaging	Het
Krt78	A	T	15: 101,947,045	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,639,735	H93R		Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Mga	A	G	2: 119,960,385	I2251V	probably benign	Het
Mtx3	A	G	13: 92,847,707	E164G	possibly damaging	Het
Nbeal1	A	T	1: 60,277,177	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,691,935	M466L	probably benign	Het
Nr4a3	A	T	4: 48,056,588	K380M	probably damaging	Het
Nup107	T	C	10: 117,757,931	K786E	probably benign	Het
Olfr1024	T	C	2: 85,904,203	I284V	probably benign	Het
Olfr110	A	T	17: 37,498,669	Q6L	probably benign	Het
Olfr560	T	C	7: 102,753,743	Y62C	probably benign	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Pkhd1l1	A	G	15: 44,574,407	N3533D	possibly damaging	Het
Plpp1	A	T	13: 112,866,931	T230S	probably benign	Het
Plxnc1	A	C	10: 94,833,368	D1063E	possibly damaging	Het
Prokr2	C	A	2: 132,374,041	A167S	probably damaging	Het
Qser1	C	T	2: 104,788,725	A491T	probably benign	Het
Rc3h2	T	A	2: 37,376,989	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 33,932,527	L182F	possibly damaging	Het
Rnf130	T	C	11: 50,071,270	V181A	probably benign	Het
Scd4	A	G	19: 44,334,133	D55G	probably benign	Het
Scn7a	T	G	2: 66,700,860	I558L	possibly damaging	Het
Serpinb7	G	A	1: 107,448,250		probably null	Het
Shtn1	T	C	19: 59,003,896	I417V	possibly damaging	Het
Svs3b	T	A	2: 164,256,220	E60D	possibly damaging	Het
Tex14	T	C	11: 87,484,759	I116T	probably damaging	Het
Trak1	C	T	9: 121,451,727	T394I	probably benign	Het
Trhde	C	T	10: 114,567,228	V497M	probably damaging	Het
Trpc2	A	G	7: 102,088,275	M425V	possibly damaging	Het
Trpm2	C	T	10: 77,947,973	R222Q	probably damaging	Het
Tuba1b	C	T	15: 98,931,710	G410S	probably benign	Het
Usp28	T	G	9: 49,015,397		probably null	Het
Vps13d	T	C	4: 145,149,290	Y1555C		Het
Wdr17	T	A	8: 54,693,120	N106Y	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
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
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'- GTGCCTGCTCATCTGAAAAC -3'
(R):5'- ACCAACTCACTAGTTCAAGAGG -3'

Sequencing Primer
(F):5'- GCCTGCTCATCTGAAAACTGTTTAC -3'
(R):5'- TACAGATCGTTGTGAGCCAC -3'

Posted On

2020-10-23