Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Dennd5b'

644200

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8328 (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 149020617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 800 (S800P)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: S800P

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

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: S800P

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,890,012	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,454,866	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215	E489K	probably benign	Het
Arhgef28	A	T	13: 98,051,009	H259Q	possibly damaging	Het
C3	T	C	17: 57,220,973	S749G	probably benign	Het
Celsr1	A	G	15: 85,922,244	S2338P	probably benign	Het
Ces2a	A	T	8: 104,737,366	N210I	probably damaging	Het
Cuzd1	A	T	7: 131,311,616	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,348,368	H67L	probably benign	Het
Dmrta2	G	T	4: 109,980,009	L49F	unknown	Het
Dpy19l1	T	A	9: 24,475,390	K9*	probably null	Het
Dsc2	T	C	18: 20,032,519	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,376,950	F6I	probably benign	Het
Fam214b	T	C	4: 43,034,751	T323A	probably benign	Het
Gm13084	A	G	4: 143,810,810	L317P	probably damaging	Het
Hck	C	T	2: 153,129,067	A83V	probably damaging	Het
Hdc	T	C	2: 126,601,883	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,764,496	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,793,070	V88M	probably damaging	Het
Kremen2	A	G	17: 23,742,771	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,235,641	I622N	probably damaging	Het
Megf8	A	G	7: 25,347,492	N1600S	probably benign	Het
Mical3	A	G	6: 120,935,177	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323	Y26N	probably damaging	Het
Nrl	T	C	14: 55,520,706	E188G	probably damaging	Het
Olfr311	T	A	11: 58,841,634	D173E	probably benign	Het
Olfr464	A	G	11: 87,914,159	M249T	possibly damaging	Het
Polr1a	G	A	6: 71,920,734	E238K	probably benign	Het
Prr5	G	C	15: 84,703,186	*388S	probably null	Het
Rptor	A	G	11: 119,892,647	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,577,864	I664K	probably damaging	Het
Stn1	C	A	19: 47,517,059	R152L	probably damaging	Het
Syde2	T	C	3: 146,015,741	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,790,062	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,806,473	V16L	probably benign	Het
Wdr19	A	G	5: 65,225,295	E454G	probably damaging	Het
Zan	C	T	5: 137,394,464	E4590K	unknown	Het
Zfp579	T	G	7: 4,994,867	H15P	unknown	Het
Zfp628	A	G	7: 4,919,814	N345S	probably benign	Het
Zfp944	T	A	17: 22,339,724	K181*	probably null	Het
Zscan5b	C	T	7: 6,233,947	P232S	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
R8226:Dennd5b	UTSW	6	149014248	splice site	probably null
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'- TATTAACGGCGGTCACGGAAC -3'
(R):5'- GCAATCTACTTAGCAGTGGAGAC -3'

Sequencing Primer
(F):5'- GGCGGTCACGGAACTTTTC -3'
(R):5'- CACAAAGCTGACTTGGTTTAGTTCC -3'

Posted On

2020-09-02