Mutagenetix > Incidental Mutation

Incidental Mutation 'R9535:Dennd5b'

719648

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 #

R9535 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148993867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1222 (I1222V)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557
AA Change: I1222V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: I1222V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,487,610	I236V	probably benign	Het
4930583I09Rik	T	A	17: 64,834,331	R65S	unknown	Het
4931408C20Rik	A	C	1: 26,682,151	L1316*	probably null	Het
Abcc6	A	G	7: 45,977,263	S1457P	probably damaging	Het
Alad	T	C	4: 62,510,540	D259G	probably damaging	Het
Atmin	A	G	8: 116,956,588	D329G	probably damaging	Het
Cdkal1	A	G	13: 29,850,024	F29L	probably benign	Het
Chrng	C	T	1: 87,211,480	P518S	probably benign	Het
Cpa1	G	T	6: 30,641,848	D224Y	probably damaging	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Dnm1	A	T	2: 32,312,332	S773T	probably benign	Het
Fam208b	T	A	13: 3,573,559	R2130S	possibly damaging	Het
Glmn	A	T	5: 107,558,502	V419E	possibly damaging	Het
Il18rap	T	A	1: 40,547,830	V424E	probably benign	Het
Kdm6b	C	A	11: 69,406,450	G359*	probably null	Het
Krt84	A	G	15: 101,529,581		probably null	Het
Lig4	C	A	8: 9,972,325	C485F	probably damaging	Het
Mpo	T	A	11: 87,799,968	W411R	probably damaging	Het
Mpv17l	A	G	16: 13,941,285	E8G	probably benign	Het
Mrps34	T	C	17: 24,895,477	Y104H	probably benign	Het
Muc15	T	A	2: 110,731,662	W148R	probably damaging	Het
Nrg1	T	C	8: 31,949,967	D134G	probably benign	Het
Prdm1	T	C	10: 44,441,612	Y405C	probably damaging	Het
Ptprb	T	C	10: 116,322,526	S501P	possibly damaging	Het
Pwp1	C	A	10: 85,888,094	S486R	possibly damaging	Het
Rtl1	T	C	12: 109,590,737	E1556G	probably damaging	Het
Rtl1	T	C	12: 109,595,264	Q47R	unknown	Het
Siglece	A	G	7: 43,657,631	F311L	probably benign	Het
Slc27a3	A	G	3: 90,386,311	L589P	probably damaging	Het
Synrg	T	A	11: 83,990,834	M332K	probably benign	Het
Tecta	T	A	9: 42,359,463	N1183I	probably damaging	Het
Tmed11	A	G	5: 108,779,049	I119T	possibly damaging	Het
Ttll3	C	T	6: 113,412,873	R740W	probably damaging	Het
Usp40	T	C	1: 88,007,439		probably benign	Het
Vmn1r236	C	T	17: 21,287,156	H179Y	probably benign	Het
Wwtr1	T	C	3: 57,477,404	M298V	possibly damaging	Het
Xrcc4	T	A	13: 89,940,999	M280L	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
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
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'- TGCCGGCTGCTTTACACATC -3'
(R):5'- CCTAACCTGTGGATCATACCTTG -3'

Sequencing Primer
(F):5'- ACACATCCACTCCTTTGATTAGTG -3'
(R):5'- GTCTGAAGACAGCTACAGTGTACTC -3'

Posted On

2022-07-18