Mutagenetix > Incidental Mutation

Incidental Mutation 'R2412:Dennd5b'

250032

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN domain containing 5B

Synonyms

D030011O10Rik, 9330160C06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R2412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148889569-149003178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148906736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1062 (T1062A)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111557
AA Change: T1062A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: T1062A

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: ENSMUST00000117470

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,127,740 (GRCm39)	Q114L	probably benign	Het
Adamts3	A	G	5: 89,849,630 (GRCm39)	Y597H	probably damaging	Het
Bmi1	A	G	2: 18,688,525 (GRCm39)	H172R	probably damaging	Het
Cyp3a44	A	T	5: 145,716,389 (GRCm39)	Y400*	probably null	Het
Dync2h1	T	C	9: 7,144,246 (GRCm39)	D1065G	probably benign	Het
Ephb1	G	A	9: 101,879,015 (GRCm39)	R492C	possibly damaging	Het
Fat4	A	T	3: 39,011,221 (GRCm39)	H2107L	probably benign	Het
Itga8	A	G	2: 12,306,526 (GRCm39)	V23A	probably benign	Het
Lrba	A	G	3: 86,235,007 (GRCm39)	N851D	probably damaging	Het
Ltbp3	A	G	19: 5,796,673 (GRCm39)	T322A	probably benign	Het
Ntpcr	T	C	8: 126,472,144 (GRCm39)	V151A	probably damaging	Het
Or8h7	T	C	2: 86,721,178 (GRCm39)	I114V	probably benign	Het
Or9g3	C	A	2: 85,590,024 (GRCm39)	G232V	probably damaging	Het
Pramel51	A	G	12: 88,143,880 (GRCm39)	V311A	probably damaging	Het
Rps6ka4	A	T	19: 6,807,309 (GRCm39)	*774K	probably null	Het
Slc12a5	T	C	2: 164,818,382 (GRCm39)		probably null	Het
Tmem219	T	C	7: 126,495,939 (GRCm39)	S37G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubb1	A	G	2: 174,298,903 (GRCm39)	N195S	possibly damaging	Het
Zan	A	G	5: 137,412,425 (GRCm39)		probably null	Het
Zfp85	T	C	13: 67,897,765 (GRCm39)	I102M	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
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
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
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'- CATATATGTGCGTGCGTGTGC -3'
(R):5'- GAGACCAAAGGATAAGTTCACAATAA -3'

Sequencing Primer
(F):5'- GTTTCTGGGAATCAACCTCAGAGC -3'
(R):5'- CCTACCAGATTCCCTTGTG -3'

Posted On

2014-11-12