Mutagenetix > Incidental Mutation

Incidental Mutation 'R0081:Dennd5b'

19674

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

038368-MU

Accession Numbers

Essential gene?

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

Stock #

R0081 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 148993759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1258 (Q1258K)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557
AA Change: Q1258K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: Q1258K

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: ENSMUST00000181858

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 24,781,687	D485G	probably damaging	Het
Adamts19	T	C	18: 58,903,065		probably null	Het
Adgrd1	A	T	5: 129,178,082	I598F	probably damaging	Het
Adh5	A	G	3: 138,451,413	D245G	probably benign	Het
Adra2b	T	C	2: 127,364,292	V238A	probably benign	Het
Ank1	G	A	8: 23,116,242	V1188I	possibly damaging	Het
Asap1	C	T	15: 64,099,564	G905D	probably damaging	Het
AW554918	T	C	18: 25,344,902	V428A	probably benign	Het
Birc6	T	A	17: 74,643,441	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280		probably benign	Het
Cyfip2	A	T	11: 46,253,998	Y676*	probably null	Het
Dcaf17	T	A	2: 71,078,468		probably benign	Het
Dclre1a	A	G	19: 56,542,707	F736L	probably damaging	Het
Ddx41	A	T	13: 55,535,380	H171Q	possibly damaging	Het
Dock10	T	C	1: 80,606,578	D137G	probably damaging	Het
Dpyd	G	A	3: 118,944,255	V482I	probably benign	Het
Erich6	A	T	3: 58,636,126		probably benign	Het
Fam193b	A	G	13: 55,554,211		probably benign	Het
Foxp2	T	C	6: 15,405,644		probably benign	Het
Frmd4a	T	C	2: 4,572,441		probably null	Het
Gas2l2	A	G	11: 83,422,867	S540P	possibly damaging	Het
Glis2	T	C	16: 4,613,653	V348A	probably benign	Het
Gm14443	C	A	2: 175,169,936	G239V	probably damaging	Het
Gpr158	T	C	2: 21,826,717	V876A	probably damaging	Het
H1foo	A	G	6: 115,949,981	E273G	probably benign	Het
Hadh	C	T	3: 131,235,636	D245N	probably damaging	Het
Hk2	A	T	6: 82,734,976		probably benign	Het
Ice1	A	T	13: 70,619,044	Y108*	probably null	Het
Il10ra	T	G	9: 45,255,949	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,631,147		probably null	Het
Kank4	G	T	4: 98,778,330	P627T	probably benign	Het
Kif16b	A	G	2: 142,707,426		probably benign	Het
Lipn	A	G	19: 34,076,976	I205V	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Myh1	T	C	11: 67,215,857	M1255T	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myo1d	T	G	11: 80,557,523	K925N	probably benign	Het
Myoz1	T	A	14: 20,649,554	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nf1	C	A	11: 79,453,979		probably benign	Het
Npepl1	C	T	2: 174,116,086	P239S	probably damaging	Het
Olfml1	A	G	7: 107,571,299	K131R	probably benign	Het
Olfr1258	T	A	2: 89,930,079	I90K	possibly damaging	Het
Olfr1303	A	C	2: 111,813,868	I286S	probably damaging	Het
Olfr344	T	A	2: 36,568,881	Y94*	probably null	Het
Olfr352	T	C	2: 36,870,010	L148S	possibly damaging	Het
Olfr358	G	A	2: 37,005,450	L55F	probably damaging	Het
Olfr389	A	G	11: 73,777,109	F73L	possibly damaging	Het
Olfr472	C	T	7: 107,903,005	T96I	probably benign	Het
Olfr771	C	T	10: 129,160,838	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,241,533		probably benign	Het
Pik3c2g	T	C	6: 139,957,793	C591R	probably benign	Het
Pkn2	T	G	3: 142,853,582	K61Q	probably damaging	Het
Ppfia1	C	A	7: 144,504,974	G722C	probably damaging	Het
Ppp1cb	T	C	5: 32,487,614	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,907,135	N440K	possibly damaging	Het
Rbm34	T	A	8: 126,949,484	K340N	probably damaging	Het
Samd3	T	C	10: 26,271,501		probably benign	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sigirr	T	C	7: 141,091,372	D399G	probably damaging	Het
Slc17a7	A	G	7: 45,174,947	E554G	probably benign	Het
Smc3	A	G	19: 53,601,562		probably benign	Het
Tdrd1	T	C	19: 56,831,271	Y68H	probably benign	Het
Tespa1	T	A	10: 130,360,850	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Ttc38	A	G	15: 85,856,472	S436G	probably benign	Het
Ttn	T	A	2: 76,751,079	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,751,836	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,923,027	D532V	probably benign	Het
Vwa8	C	A	14: 79,082,782	L1078I	probably benign	Het
Vwce	A	T	19: 10,664,089		probably null	Het
Zpr1	A	G	9: 46,279,697	D300G	probably 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
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
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'- TCCTTTGTGAGACCTGGAGGGAAA -3'
(R):5'- GGGGAGCCAGTTACACTGTATCTGT -3'

Sequencing Primer
(F):5'- AAAGAAGCCTTCCTGGGTTG -3'
(R):5'- GCCAGTTACACTGTATCTGTTAGAG -3'

Posted On

2013-04-11