Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Dennd5b'

195277

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

039812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R1781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 149027398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 759 (A759E)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: A759E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: A759E

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: ENSMUST00000150436

Meta Mutation Damage Score

0.2431

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	C	T	8: 3,380,495	R123W	probably damaging	Het
Aadacl2	A	G	3: 60,024,696	K211E	probably damaging	Het
Abca13	T	A	11: 9,269,194	L376Q	probably damaging	Het
Abca17	T	C	17: 24,267,557	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639	N363K	possibly damaging	Het
Apob	T	A	12: 8,009,603	I2695N	possibly damaging	Het
Atg14	T	A	14: 47,549,150		probably null	Het
Atg2a	A	T	19: 6,256,213	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,513,593	S373P	probably damaging	Het
Ccdc83	T	C	7: 90,250,541	E41G	probably damaging	Het
Ccnh	T	C	13: 85,206,135	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,190,462		probably null	Het
Cdh8	A	T	8: 99,279,658	I99N	probably damaging	Het
Cdr2	G	A	7: 120,958,045	P419L	probably benign	Het
Cds1	T	A	5: 101,812,550	I289K	possibly damaging	Het
Cherp	G	A	8: 72,467,771	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,524,019	I222S	possibly damaging	Het
Dcc	A	G	18: 71,378,717	S856P	probably benign	Het
Dcp1a	C	T	14: 30,513,075	T221I	probably benign	Het
Ddx10	A	G	9: 53,207,545	S475P	probably damaging	Het
Disp2	G	A	2: 118,792,561	G1258D	probably damaging	Het
Fam208b	T	C	13: 3,584,759	T683A	possibly damaging	Het
Fhdc1	A	T	3: 84,448,804	D444E	probably damaging	Het
Fhod1	T	C	8: 105,347,789		probably benign	Het
Gcnt7	T	C	2: 172,454,880	K8R	probably benign	Het
Gk5	C	T	9: 96,133,455	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,681,932		noncoding transcript	Het
Gnl1	A	T	17: 35,987,746	I434F	probably damaging	Het
Golga2	T	C	2: 32,306,576	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,517,538	V32A	probably benign	Het
Grb14	A	T	2: 64,975,555		probably null	Het
H6pd	A	T	4: 149,995,931	F144L	probably damaging	Het
Hunk	A	G	16: 90,432,560	Y27C	probably damaging	Het
Ints7	C	T	1: 191,596,284	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,179,003		probably null	Het
Lilra6	A	T	7: 3,915,067	L26H	probably benign	Het
Mc4r	A	T	18: 66,859,847	V65E	probably damaging	Het
Mgam	G	A	6: 40,669,863	G708R	probably damaging	Het
Mllt6	A	G	11: 97,672,569	D326G	probably benign	Het
Myo7a	A	T	7: 98,073,124	V1198D	probably damaging	Het
Nampt	T	C	12: 32,833,038	V74A	probably damaging	Het
Nlrp4b	G	C	7: 10,715,339	V123L	probably benign	Het
Ntpcr	T	A	8: 125,745,402	L150Q	probably damaging	Het
Obscn	C	T	11: 59,106,337	E1513K	probably damaging	Het
Ola1	T	C	2: 73,156,755	K178E	possibly damaging	Het
Olfr1351	T	C	10: 79,017,325	M1T	probably null	Het
Olfr1364	C	T	13: 21,573,541	G305D	probably damaging	Het
Olfr1368	C	T	13: 21,142,764	V98I	probably benign	Het
Olfr139	A	T	11: 74,044,960	F105I	probably damaging	Het
Olfr486	A	G	7: 108,171,883	V287A	probably benign	Het
Olfr53	A	T	7: 140,652,506	I176F	probably damaging	Het
Olfr615	C	T	7: 103,560,566	P30S	probably benign	Het
Olfr629	T	C	7: 103,740,821	M140V	probably benign	Het
Olfr672	A	T	7: 104,996,108	F265L	possibly damaging	Het
Olfr981	A	G	9: 40,023,245	N284S	probably damaging	Het
Opalin	T	C	19: 41,067,631		probably null	Het
P2ry12	A	G	3: 59,217,778	F159L	probably benign	Het
Paqr7	T	C	4: 134,507,281		probably null	Het
Parp1	T	C	1: 180,588,013	S466P	probably benign	Het
Parp4	T	A	14: 56,627,381		probably null	Het
Pcdh1	T	C	18: 38,189,924	D952G	probably damaging	Het
Pde6c	T	C	19: 38,151,698	S336P	possibly damaging	Het
Pgk2	T	C	17: 40,208,507	D10G	probably benign	Het
Phf20l1	A	G	15: 66,632,825	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,821,171	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,394,856	L251P	probably damaging	Het
Prex2	A	T	1: 11,199,955	N1288I	probably benign	Het
Sarnp	T	C	10: 128,833,322	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,766,968		probably benign	Het
Scn11a	A	T	9: 119,755,082	I1489N	probably damaging	Het
Scn3a	A	T	2: 65,472,385	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,267,657	S377P	probably benign	Het
Slc22a30	T	A	19: 8,335,772	T550S	probably damaging	Het
Slc25a11	T	C	11: 70,644,825	T296A	probably benign	Het
Slc35f1	T	A	10: 53,062,436		probably null	Het
Slc6a13	A	G	6: 121,334,852	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srsf9	C	A	5: 115,327,422	Y9*	probably null	Het
Tbx20	T	C	9: 24,725,499	I431V	probably benign	Het
Tespa1	G	A	10: 130,348,250	G67S	probably benign	Het
Trhde	A	T	10: 114,588,500	V460E	possibly damaging	Het
Trip12	A	T	1: 84,730,621	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Umodl1	G	A	17: 30,968,550	R196H	probably damaging	Het
Vezf1	G	T	11: 88,081,621	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,679,566	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,071,315	C125F	probably benign	Het
Vmn2r12	C	A	5: 109,091,728	G323V	probably benign	Het
Vmn2r79	A	T	7: 87,002,347	H318L	probably benign	Het
Zfhx3	T	A	8: 108,793,535	S430T	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
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'- AGCTCCCTGACATGAATAAGACCCTT -3'
(R):5'- GTGTAGAACCGCTCACTTCTGTTGT -3'

Sequencing Primer
(F):5'- CATGAATAAGACCCTTAAAAGTGGC -3'
(R):5'- CAAGATACCTGTACTGTTGCAGAAG -3'

Posted On

2014-05-23