Mutagenetix > Incidental Mutation

Incidental Mutation 'R1255:Dennd5b'

151416

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN domain containing 5B

Synonyms

D030011O10Rik, 9330160C06Rik

MMRRC Submission

039322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R1255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148889569-149003178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148943148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 576 (M576K)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111557
AA Change: M576K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: M576K

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: ENSMUST00000120216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204583

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,016 (GRCm39)	S21C	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acsf3	T	C	8: 123,512,705 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,965 (GRCm39)		probably null	Het
Antxr2	A	T	5: 98,123,231 (GRCm39)	I272N	probably benign	Het
Asphd2	A	C	5: 112,539,677 (GRCm39)	V52G	probably damaging	Het
Atxn3	T	A	12: 101,900,593 (GRCm39)	Q230L	probably damaging	Het
Bltp3b	T	C	10: 89,581,132 (GRCm39)	I9T	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ciz1	T	A	2: 32,255,888 (GRCm39)		probably null	Het
Ebf3	C	T	7: 136,826,941 (GRCm39)	V315I	probably benign	Het
Epha5	G	T	5: 84,298,254 (GRCm39)	A383E	probably damaging	Het
Epha5	C	T	5: 84,298,255 (GRCm39)	A383T	probably damaging	Het
Gimap1	T	A	6: 48,719,940 (GRCm39)	V184E	probably benign	Het
Gtf2f1	A	G	17: 57,317,982 (GRCm39)	V18A	probably damaging	Het
Kcnn3	A	T	3: 89,559,416 (GRCm39)	D562V	possibly damaging	Het
Kif20b	A	G	19: 34,927,506 (GRCm39)	T883A	probably benign	Het
Kmt2c	A	T	5: 25,556,151 (GRCm39)	L1198Q	probably damaging	Het
Nipal2	T	C	15: 34,584,828 (GRCm39)	I247V	probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Rad51ap2	G	T	12: 11,508,095 (GRCm39)	K672N	possibly damaging	Het
Rbm28	C	T	6: 29,158,246 (GRCm39)	G155D	probably damaging	Het
Sema6a	A	T	18: 47,382,366 (GRCm39)	M701K	probably damaging	Het
Slc47a1	A	T	11: 61,260,974 (GRCm39)	L142Q	probably damaging	Het
Snx25	A	T	8: 46,569,275 (GRCm39)	N207K	probably benign	Het
Son	T	A	16: 91,461,583 (GRCm39)	V205E	probably damaging	Het
Spz1	C	A	13: 92,712,138 (GRCm39)	V113F	probably benign	Het
Tcn2	T	C	11: 3,872,120 (GRCm39)	T336A	probably benign	Het
Tln1	T	C	4: 43,538,044 (GRCm39)	D1852G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp729a	T	C	13: 67,769,965 (GRCm39)	E88G	probably benign	Het

Other mutations in Dennd5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Dennd5b	APN	6	148,928,828 (GRCm39)	missense	probably damaging	1.00
IGL00590:Dennd5b	APN	6	148,969,806 (GRCm39)	missense	probably benign	0.03
IGL00727:Dennd5b	APN	6	148,908,214 (GRCm39)	splice site	probably benign
IGL00838:Dennd5b	APN	6	148,906,861 (GRCm39)	splice site	probably benign
IGL01115:Dennd5b	APN	6	148,911,246 (GRCm39)	splice site	probably benign
IGL01150:Dennd5b	APN	6	148,969,583 (GRCm39)	missense	probably benign	0.01
IGL01873:Dennd5b	APN	6	148,946,027 (GRCm39)	missense	probably benign
IGL01991:Dennd5b	APN	6	148,982,322 (GRCm39)	missense	probably damaging	1.00
IGL02226:Dennd5b	APN	6	148,934,799 (GRCm39)	missense	probably benign	0.00
IGL02820:Dennd5b	APN	6	148,920,840 (GRCm39)	missense	probably null	0.51
IGL03056:Dennd5b	APN	6	148,956,570 (GRCm39)	missense	probably damaging	1.00
IGL03085:Dennd5b	APN	6	148,928,893 (GRCm39)	missense	probably damaging	1.00
IGL03329:Dennd5b	APN	6	148,899,758 (GRCm39)	missense	possibly damaging	0.53
R0081:Dennd5b	UTSW	6	148,895,257 (GRCm39)	missense	probably benign	0.13
R0617:Dennd5b	UTSW	6	148,934,760 (GRCm39)	splice site	probably benign
R1241:Dennd5b	UTSW	6	148,969,988 (GRCm39)	missense	probably benign	0.06
R1252:Dennd5b	UTSW	6	148,945,985 (GRCm39)	missense	probably damaging	1.00
R1641:Dennd5b	UTSW	6	148,969,703 (GRCm39)	missense	probably damaging	1.00
R1674:Dennd5b	UTSW	6	148,899,782 (GRCm39)	missense	probably damaging	1.00
R1781:Dennd5b	UTSW	6	148,928,896 (GRCm39)	missense	probably damaging	1.00
R1861:Dennd5b	UTSW	6	148,969,760 (GRCm39)	missense	probably damaging	1.00
R1907:Dennd5b	UTSW	6	148,943,074 (GRCm39)	missense	probably benign	0.00
R2412:Dennd5b	UTSW	6	148,906,736 (GRCm39)	missense	possibly damaging	0.88
R3794:Dennd5b	UTSW	6	149,002,715 (GRCm39)	missense	possibly damaging	0.87
R3825:Dennd5b	UTSW	6	148,946,334 (GRCm39)	missense	probably benign
R4581:Dennd5b	UTSW	6	148,918,482 (GRCm39)	splice site	silent
R4654:Dennd5b	UTSW	6	148,908,335 (GRCm39)	missense	probably damaging	1.00
R4725:Dennd5b	UTSW	6	148,946,277 (GRCm39)	missense	probably damaging	0.97
R4981:Dennd5b	UTSW	6	148,911,270 (GRCm39)	missense	possibly damaging	0.88
R4994:Dennd5b	UTSW	6	148,942,998 (GRCm39)	splice site	probably null
R5400:Dennd5b	UTSW	6	148,901,514 (GRCm39)	missense	probably damaging	1.00
R5452:Dennd5b	UTSW	6	148,943,011 (GRCm39)	splice site	probably null
R5548:Dennd5b	UTSW	6	148,920,847 (GRCm39)	splice site	probably null
R5841:Dennd5b	UTSW	6	148,946,253 (GRCm39)	missense	probably benign	0.11
R5996:Dennd5b	UTSW	6	148,969,593 (GRCm39)	missense	probably benign	0.22
R6082:Dennd5b	UTSW	6	148,970,193 (GRCm39)	missense	probably damaging	0.99
R6556:Dennd5b	UTSW	6	148,915,749 (GRCm39)	splice site	probably null
R6812:Dennd5b	UTSW	6	148,982,630 (GRCm39)	start gained	probably benign
R6828:Dennd5b	UTSW	6	148,895,244 (GRCm39)	missense	probably damaging	0.99
R7104:Dennd5b	UTSW	6	148,946,102 (GRCm39)	missense	probably damaging	1.00
R7231:Dennd5b	UTSW	6	148,946,102 (GRCm39)	missense	probably damaging	1.00
R7325:Dennd5b	UTSW	6	148,922,068 (GRCm39)	missense	probably benign	0.00
R7399:Dennd5b	UTSW	6	148,937,981 (GRCm39)	missense	probably damaging	1.00
R7516:Dennd5b	UTSW	6	148,969,878 (GRCm39)	missense	probably benign	0.02
R7751:Dennd5b	UTSW	6	148,918,604 (GRCm39)	missense	probably benign	0.01
R7763:Dennd5b	UTSW	6	148,970,156 (GRCm39)	missense	probably damaging	1.00
R7770:Dennd5b	UTSW	6	148,943,214 (GRCm39)	missense	probably damaging	0.99
R7788:Dennd5b	UTSW	6	148,970,064 (GRCm39)	missense	probably benign	0.00
R7854:Dennd5b	UTSW	6	148,969,964 (GRCm39)	missense	probably benign	0.00
R7899:Dennd5b	UTSW	6	148,943,159 (GRCm39)	missense	probably damaging	1.00
R8226:Dennd5b	UTSW	6	148,915,746 (GRCm39)	splice site	probably null
R8328:Dennd5b	UTSW	6	148,922,115 (GRCm39)	missense	probably damaging	1.00
R8489:Dennd5b	UTSW	6	148,986,389 (GRCm39)	missense	probably benign	0.00
R8517:Dennd5b	UTSW	6	148,930,619 (GRCm39)	missense	probably damaging	1.00
R8556:Dennd5b	UTSW	6	148,895,268 (GRCm39)	missense	probably damaging	1.00
R8693:Dennd5b	UTSW	6	148,911,272 (GRCm39)	nonsense	probably null
R8946:Dennd5b	UTSW	6	148,943,485 (GRCm39)	intron	probably benign
R8966:Dennd5b	UTSW	6	148,901,474 (GRCm39)	missense	probably damaging	1.00
R9122:Dennd5b	UTSW	6	148,908,240 (GRCm39)	missense
R9178:Dennd5b	UTSW	6	148,934,844 (GRCm39)	nonsense	probably null
R9208:Dennd5b	UTSW	6	149,002,698 (GRCm39)	missense	probably benign	0.09
R9465:Dennd5b	UTSW	6	148,908,260 (GRCm39)	missense	probably damaging	1.00
R9535:Dennd5b	UTSW	6	148,895,365 (GRCm39)	missense	probably benign	0.03
R9541:Dennd5b	UTSW	6	148,899,872 (GRCm39)	missense	probably benign	0.00
R9731:Dennd5b	UTSW	6	148,970,138 (GRCm39)	missense	probably damaging	1.00
R9760:Dennd5b	UTSW	6	148,969,997 (GRCm39)	missense	probably benign	0.14
R9783:Dennd5b	UTSW	6	148,911,342 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGGATTCTCTTATACAGATGCCAAC -3'
(R):5'- TCCTCTATTCTCCATAACGGTCATCAGG -3'

Sequencing Primer
(F):5'- AGAGGACACCCTTCCTGATG -3'
(R):5'- AGCTCTAACTGGCCTAAAGTC -3'

Posted On

2014-01-29