Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:Dennd5b'

698637

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: 0.153) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149101200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 37 (E37G)

Ref Sequence

ENSEMBL: ENSMUSP00000123568 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111557
AA Change: E37G

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: E37G

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

probably benign
Transcript: ENSMUST00000127727
AA Change: E37G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123568
Gene: ENSMUSG00000030313
AA Change: E37G

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

Meta Mutation Damage Score

0.3168

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,529	L358F	probably damaging	Het
Acot6	T	A	12: 84,106,584	L200Q	possibly damaging	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
C87436	A	G	6: 86,446,245	D267G	probably benign	Het
Ccdc7a	T	A	8: 128,746,001	I1617F	possibly damaging	Het
Cic	T	C	7: 25,288,077	F1397L	probably benign	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Clock	A	G	5: 76,237,024	S449P	probably benign	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dctn1	T	C	6: 83,199,702	V1246A	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Ercc5	T	C	1: 44,178,343	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fam83d	T	A	2: 158,768,546	C145S	probably damaging	Het
Fbln7	T	A	2: 128,895,423	V386E	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm3636	T	A	14: 6,741,416	R5S	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Hdac9	A	G	12: 34,170,102	M897T	probably benign	Het
Hdc	T	C	2: 126,594,680	N424D	probably benign	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,850,995	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mphosph9	T	C	5: 124,312,791	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Mslnl	C	T	17: 25,742,720	P117S	possibly damaging	Het
Muc16	T	A	9: 18,508,537	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,295,228	N430S	probably benign	Het
Myl1	T	C	1: 66,934,524	I8V	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,761,771	R291S	probably damaging	Het
Nr4a2	A	G	2: 57,109,081	V448A	probably damaging	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Olfr1259	C	A	2: 89,943,381	V245L	possibly damaging	Het
Olfr282	C	A	15: 98,437,733	A88E	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Per1	T	C	11: 69,104,810	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,222,402	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Pram1	A	G	17: 33,640,827	T123A	probably benign	Het
Ptpn23	C	A	9: 110,408,033		probably null	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rxfp4	T	A	3: 88,652,083	R354*	probably null	Het
Serpinb5	A	G	1: 106,876,123	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,227,210	D317V	probably damaging	Het
Slco5a1	A	G	1: 12,989,578		probably null	Het
Snx14	T	A	9: 88,383,779	T768S	probably benign	Het
Sorbs1	T	A	19: 40,365,018		probably benign	Het
Stambp	C	T	6: 83,551,972	A364T	probably damaging	Het
Tgm3	T	A	2: 130,023,698	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Treml2	A	T	17: 48,307,894	R136*	probably null	Het
Trim46	T	C	3: 89,235,159	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,582,707	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Uvssa	T	C	5: 33,414,075		probably null	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,483,299	I330N	probably damaging	Het
Zfp40	A	G	17: 23,175,577	F679L	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
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
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
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'- GGATTCCAAAGGGTGACTCG -3'
(R):5'- AGGCTTCTCATCGGTTCACG -3'

Sequencing Primer
(F):5'- AAAGGGTGACTCGCTCGTCATC -3'
(R):5'- TTCACGCCGGAGAGCCTC -3'

Posted On

2022-02-07