Mutagenetix > Incidental Mutation

Incidental Mutation 'R6082:Dennd5b'

482236

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

044241-MU

Accession Numbers

Essential gene?

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

Stock #

R6082 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149068695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 87 (S87P)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111557] [ENSMUST00000127727] [ENSMUST00000145555]

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: S87P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: S87P

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: ENSMUST00000121283

Predicted Effect

probably damaging
Transcript: ENSMUST00000127727
AA Change: S109P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123568
Gene: ENSMUSG00000030313
AA Change: S109P

Domain	Start	End	E-Value	Type
uDENN	18	142	5.45e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000145555
AA Change: S9P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127731
Gene: ENSMUSG00000030313
AA Change: S9P

Domain	Start	End	E-Value	Type
uDENN	1	42	3.03e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150436

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,972,511	M615V	probably benign	Het
A830018L16Rik	T	C	1: 11,798,528	I344T	probably benign	Het
Adamts19	G	A	18: 58,968,774	A639T	probably benign	Het
Adamts9	T	C	6: 92,889,949	D122G	probably damaging	Het
Bin2	A	G	15: 100,645,148	S358P	possibly damaging	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Btaf1	C	T	19: 36,983,542	R772C	probably damaging	Het
Cenpf	T	C	1: 189,658,104	E1177G	probably benign	Het
Clec4b2	A	T	6: 123,204,141		probably null	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dhx8	C	T	11: 101,764,313	R1050W	probably damaging	Het
Eif3a	T	C	19: 60,772,130	K682R	possibly damaging	Het
Eif4e2	G	T	1: 87,226,234		probably null	Het
Ephb1	T	C	9: 101,971,104	D665G	probably damaging	Het
Gbp7	G	A	3: 142,545,936	V515M	probably benign	Het
Hnrnpdl	C	T	5: 100,036,481	G398S	probably null	Het
Hook3	C	A	8: 26,110,785	A32S	probably benign	Het
Hoxb4	T	C	11: 96,318,533		probably benign	Het
Idi1	T	A	13: 8,890,470	Y229*	probably null	Het
Lpl	A	T	8: 68,896,649	I276F	probably damaging	Het
Ltbp4	T	C	7: 27,335,680		probably benign	Het
Mphosph8	A	G	14: 56,668,541	I64V	probably damaging	Het
Mroh1	A	G	15: 76,430,223	D700G	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Myt1l	T	C	12: 29,842,519	Y52H	probably damaging	Het
Nlrp9a	T	A	7: 26,567,977	D777E	probably benign	Het
Nudt4	A	G	10: 95,551,456	I82T	probably benign	Het
Nwd2	T	C	5: 63,805,031	C653R	possibly damaging	Het
Obscn	A	G	11: 58,999,567	Y7380H	unknown	Het
Olfr1045	A	C	2: 86,198,317	V145G	probably damaging	Het
Olfr281	C	T	15: 98,456,766	A152V	probably damaging	Het
Olfr46	A	G	7: 140,610,681	T172A	probably benign	Het
Olfr918	C	A	9: 38,672,570	R291S	probably damaging	Het
Ptk2	A	T	15: 73,276,865	M409K	probably damaging	Het
Ptpn11	T	C	5: 121,154,526	T253A	probably benign	Het
Rabl6	C	T	2: 25,583,825		probably benign	Het
Rnf14	T	C	18: 38,301,670	S57P	possibly damaging	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Slco1b2	A	C	6: 141,663,670	I269L	probably benign	Het
Smchd1	A	G	17: 71,349,719	Y1918H	probably benign	Het
Spag17	A	T	3: 100,124,185	I2255F	possibly damaging	Het
Tnnt2	A	G	1: 135,849,434	M199V	probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Vmn2r73	T	A	7: 85,858,221	I628L	probably benign	Het
Zc2hc1b	C	A	10: 13,171,311	E19*	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
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
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'- ACACACTGCTGTACTGCTCAG -3'
(R):5'- AGGGAAGAGCTTACACTACGTTTC -3'

Sequencing Primer
(F):5'- CTGTACTGCTCAGCATTATGC -3'
(R):5'- GTGGCTCATGACCATCTGTAACAG -3'

Posted On

2017-07-14