Mutagenetix > Incidental Mutation

Incidental Mutation 'R8556:Dennd5b'

660105

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: 0.227) question?

Stock #

R8556 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148993770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1254 (L1254P)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: L1254P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: L1254P

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	A	T	11: 70,013,550	M148K	probably benign	Het
Adcy2	T	C	13: 68,630,975	Y982C	possibly damaging	Het
Adgrl4	T	C	3: 151,510,665	I495T	probably damaging	Het
Ankfn1	A	T	11: 89,441,442	I426K	possibly damaging	Het
Birc6	T	G	17: 74,557,954	S236R	probably benign	Het
Cdan1	C	T	2: 120,722,990	V971M	probably damaging	Het
Col6a4	A	G	9: 106,067,053	F1074S	probably damaging	Het
Crk	A	G	11: 75,692,521	K189R	probably benign	Het
Dlec1	A	G	9: 119,126,221	T658A	probably benign	Het
Dock2	T	C	11: 34,262,457	D1228G	possibly damaging	Het
Dync2h1	T	C	9: 7,113,198	Y209C	probably benign	Het
Edem3	G	A	1: 151,784,835	V283I	possibly damaging	Het
Elavl1	A	G	8: 4,295,388	S202P	possibly damaging	Het
Eprs	G	A	1: 185,420,288		probably null	Het
Esp31	A	T	17: 38,641,051	M1L	probably benign	Het
Eya4	G	A	10: 23,106,258	H601Y	probably damaging	Het
Gm6370	T	C	5: 146,493,892	S296P	probably benign	Het
Helz2	A	G	2: 181,229,557	V2754A	probably damaging	Het
Hgsnat	C	T	8: 25,953,280		probably null	Het
Hoxb6	G	T	11: 96,300,717	R155L	probably damaging	Het
Igkv6-17	T	C	6: 70,371,762	V39A	probably damaging	Het
Iqgap1	G	A	7: 80,726,039	L1363F	probably damaging	Het
Lcor	TCA	T	19: 41,558,424		probably null	Het
Macf1	A	G	4: 123,488,343	S476P	probably damaging	Het
Mdh1b	A	C	1: 63,710,982		probably null	Het
Muc16	T	A	9: 18,640,937	I4687L	probably benign	Het
Mylk3	T	C	8: 85,327,273	M672V	possibly damaging	Het
Nbea	A	G	3: 55,647,386	F2614L	probably benign	Het
Olfr1208	A	T	2: 88,897,038	C186*	probably null	Het
Otop3	T	A	11: 115,344,956	D471E	probably benign	Het
Pds5b	G	A	5: 150,792,608	M1077I	probably benign	Het
Plppr5	T	A	3: 117,672,030	L310Q	probably benign	Het
Ptpn13	G	A	5: 103,559,172	E1416K	probably damaging	Het
Ptprj	A	G	2: 90,440,700	L1228P	probably damaging	Het
Rbm12	T	C	2: 156,096,561	D597G	probably damaging	Het
Ret	A	G	6: 118,169,188	F777L	probably damaging	Het
Rrbp1	A	T	2: 143,989,125	V374D	possibly damaging	Het
Scin	T	C	12: 40,077,594		probably null	Het
Serpina1a	T	A	12: 103,855,970	K234N	probably damaging	Het
Snx20	T	A	8: 88,630,033	M52L	probably benign	Het
Svs6	T	C	2: 164,317,565	S83P	possibly damaging	Het
Tcrg-C4	A	G	13: 19,344,782		probably benign	Het
Tdp1	T	C	12: 99,891,268	S29P	probably benign	Het
Tet1	T	C	10: 62,840,206	N697S	probably benign	Het
Trpv3	A	G	11: 73,287,465	I453V	probably benign	Het
Trrap	T	C	5: 144,825,937	F2407L	probably benign	Het
Tsc22d4	T	C	5: 137,747,587	S158P	probably damaging	Het
Uaca	A	T	9: 60,870,641	K768M	probably damaging	Het
Wdr20rt	G	A	12: 65,226,965	V228I	probably benign	Het
Zbtb7b	T	C	3: 89,393,137		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
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
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'- AGCACTTTGCCTTGTCTGCAG -3'
(R):5'- GGGAGCCAGTTACACTGTATCTG -3'

Sequencing Primer
(F):5'- AGACTGTTCAAACTGGGGCTTCC -3'
(R):5'- GCCAGTTACACTGTATCTGTTAGAGC -3'

Posted On

2021-01-18