Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03056:Dennd5b'

409249

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN domain containing 5B

Synonyms

D030011O10Rik, 9330160C06Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03056

Quality Score

Status

Chromosome

Chromosomal Location

148889569-149003178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148956570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 307 (M307T)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083730

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: M307T

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

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: M307T

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: ENSMUST00000150436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204155

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,647,862 (GRCm39)	H1118R	probably damaging	Het
Aff1	G	A	5: 103,958,947 (GRCm39)	V339I	probably damaging	Het
Ank1	G	T	8: 23,631,195 (GRCm39)	V107F	probably damaging	Het
Aox3	T	C	1: 58,198,180 (GRCm39)		probably null	Het
Cd160	T	C	3: 96,713,127 (GRCm39)	T46A	probably benign	Het
Cimip2a	T	A	2: 25,111,367 (GRCm39)	M232K	possibly damaging	Het
Col20a1	A	T	2: 180,636,682 (GRCm39)	Y221F	probably damaging	Het
Ddx18	C	T	1: 121,492,264 (GRCm39)	A148T	probably benign	Het
Fam216b	G	A	14: 78,320,223 (GRCm39)	H86Y	probably benign	Het
Fh1	A	T	1: 175,433,728 (GRCm39)	C374S	probably damaging	Het
Fkbp14	A	G	6: 54,556,529 (GRCm39)	V207A	probably benign	Het
Gucy1a1	T	C	3: 82,020,594 (GRCm39)	K101R	probably benign	Het
Kcnk2	G	T	1: 189,027,908 (GRCm39)	Q116K	possibly damaging	Het
Kdm5b	C	A	1: 134,515,717 (GRCm39)	Q114K	probably damaging	Het
Kif12	C	T	4: 63,085,193 (GRCm39)	R516Q	probably null	Het
Lca5l	C	T	16: 95,962,551 (GRCm39)	C463Y	probably benign	Het
Lgsn	T	A	1: 31,242,705 (GRCm39)	Y262*	probably null	Het
Lig4	A	G	8: 10,022,580 (GRCm39)	I400T	possibly damaging	Het
Mink1	T	A	11: 70,503,409 (GRCm39)		probably null	Het
Mprip	T	A	11: 59,662,518 (GRCm39)	I2243N	probably damaging	Het
Myo1f	A	T	17: 33,804,574 (GRCm39)	Y426F	probably damaging	Het
Naip2	T	A	13: 100,298,795 (GRCm39)	S414C	possibly damaging	Het
Nrg1	T	C	8: 32,311,451 (GRCm39)	I363V	possibly damaging	Het
Or4f54	A	T	2: 111,123,517 (GRCm39)	R301S	possibly damaging	Het
Or52r1b	A	T	7: 102,690,958 (GRCm39)	I86L	possibly damaging	Het
Serpinb9d	T	C	13: 33,386,736 (GRCm39)	V268A	probably damaging	Het
Slc15a1	A	G	14: 121,728,695 (GRCm39)	F17L	possibly damaging	Het
Slc9a3	T	A	13: 74,298,938 (GRCm39)	V119E	probably damaging	Het
Sspo	T	A	6: 48,447,472 (GRCm39)	M2346K	probably benign	Het
Tcf4	G	T	18: 69,784,283 (GRCm39)		probably benign	Het
Trabd2b	T	C	4: 114,266,535 (GRCm39)	V183A	probably damaging	Het
Ust	T	C	10: 8,083,326 (GRCm39)	H350R	probably benign	Het
Zfp952	T	A	17: 33,221,740 (GRCm39)	V35E	probably damaging	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
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
R1255:Dennd5b	UTSW	6	148,943,148 (GRCm39)	missense	possibly damaging	0.48
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

Posted On

2016-08-02