Mutagenetix > Incidental Mutation

Incidental Mutation 'R4981:Dennd5b'

384823

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN domain containing 5B

Synonyms

D030011O10Rik, 9330160C06Rik

MMRRC Submission

042576-MU

Accession Numbers

Essential gene?

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

Stock #

R4981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148889569-149003178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 148911270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 978 (L978F)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111557
AA Change: L978F

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

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: L978F

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: ENSMUST00000129539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150436

Meta Mutation Damage Score

0.2701

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,095,772 (GRCm39)		probably null	Het
Aatf	T	C	11: 84,402,323 (GRCm39)	D121G	probably benign	Het
Amer2	T	A	14: 60,617,176 (GRCm39)	L331H	probably damaging	Het
Ang4	T	G	14: 52,001,829 (GRCm39)	K40Q	probably benign	Het
Aspm	A	C	1: 139,398,498 (GRCm39)		probably null	Het
Cacna1c	A	T	6: 118,728,432 (GRCm39)	D337E	probably benign	Het
Ccdc124	T	C	8: 71,321,429 (GRCm39)	E134G	probably benign	Het
Ccdc7a	G	T	8: 129,711,464 (GRCm39)	A312E	probably benign	Het
Cd209g	A	G	8: 4,186,845 (GRCm39)	D130G	probably damaging	Het
Cd320	T	C	17: 34,066,549 (GRCm39)	S96P	probably benign	Het
Cenatac	A	T	9: 44,329,245 (GRCm39)	F14Y	probably damaging	Het
Clu	C	G	14: 66,210,815 (GRCm39)	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,110,777 (GRCm39)	H28L	probably benign	Het
Cntnap1	T	C	11: 101,067,159 (GRCm39)		probably null	Het
Col22a1	C	T	15: 71,732,915 (GRCm39)	C546Y	unknown	Het
Col6a3	C	T	1: 90,706,565 (GRCm39)	V2183I	unknown	Het
Cop1	A	G	1: 159,152,638 (GRCm39)		probably benign	Het
Cpne8	T	C	15: 90,563,438 (GRCm39)	I24V	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Depdc1a	G	T	3: 159,229,550 (GRCm39)	M627I	probably benign	Het
Dnah3	A	T	7: 119,555,424 (GRCm39)	N2721K	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg1b	A	G	18: 20,541,925 (GRCm39)	T811A	possibly damaging	Het
Emilin1	C	G	5: 31,076,695 (GRCm39)	Q847E	probably benign	Het
Epha3	A	T	16: 63,472,775 (GRCm39)	V370D	probably benign	Het
Epha5	T	A	5: 84,298,342 (GRCm39)	T406S	probably damaging	Het
Ephb1	A	T	9: 101,918,159 (GRCm39)	I450N	probably benign	Het
Ephb2	A	G	4: 136,423,321 (GRCm39)	M319T	probably benign	Het
Eps15l1	A	G	8: 73,132,833 (GRCm39)		probably null	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,966,281 (GRCm39)	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,596,174 (GRCm39)	F582L	probably damaging	Het
Frs3	T	C	17: 48,000,187 (GRCm39)		probably null	Het
Fscb	C	T	12: 64,520,393 (GRCm39)	V358I	possibly damaging	Het
Fus	G	T	7: 127,566,727 (GRCm39)		probably benign	Het
Fyb1	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,676,092 (GRCm39)		probably benign	Het
Glra3	A	T	8: 56,444,270 (GRCm39)	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,269,860 (GRCm39)		noncoding transcript	Het
Gng3	G	A	19: 8,815,625 (GRCm39)	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,812,191 (GRCm39)		probably benign	Het
Herpud1	A	G	8: 95,118,422 (GRCm39)	Y41C	probably damaging	Het
Igkv4-92	G	C	6: 68,732,028 (GRCm39)	S115R	possibly damaging	Het
Ikbip	T	A	10: 90,931,848 (GRCm39)	I164N	probably benign	Het
Kank1	A	G	19: 25,388,759 (GRCm39)	T783A	probably benign	Het
Kcnq3	A	T	15: 65,903,254 (GRCm39)	V152E	possibly damaging	Het
Kif23	C	T	9: 61,839,153 (GRCm39)	R314H	probably damaging	Het
Klc4	T	C	17: 46,955,287 (GRCm39)	H49R	probably benign	Het
Klhl20	A	T	1: 160,930,575 (GRCm39)	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,540,701 (GRCm39)	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,306,761 (GRCm39)	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,113,265 (GRCm39)	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,960,765 (GRCm39)	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,396,201 (GRCm39)	T109S	probably benign	Het
Megf6	T	C	4: 154,351,907 (GRCm39)	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 46,984,959 (GRCm39)	V240D	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,115,300 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,716,553 (GRCm39)	I172V	probably benign	Het
Nemp1	T	A	10: 127,529,399 (GRCm39)	L178Q	probably damaging	Het
Numa1	T	C	7: 101,641,881 (GRCm39)	S110P	probably damaging	Het
Or4a75	A	G	2: 89,447,769 (GRCm39)	Y256H	probably damaging	Het
Or4c117	T	C	2: 88,955,845 (GRCm39)	T77A	probably benign	Het
Or51k1	A	G	7: 103,661,312 (GRCm39)	I199T	probably damaging	Het
Or5ak25	A	G	2: 85,268,813 (GRCm39)	S230P	probably damaging	Het
Or8k30	T	C	2: 86,339,171 (GRCm39)	Y123H	probably damaging	Het
Or9q1	A	T	19: 13,805,458 (GRCm39)	F101I	probably damaging	Het
Pard3b	T	G	1: 62,383,219 (GRCm39)	M771R	probably damaging	Het
Phkg2	A	G	7: 127,181,551 (GRCm39)	I245V	probably damaging	Het
Pik3cg	A	T	12: 32,254,103 (GRCm39)	M628K	possibly damaging	Het
Poln	A	G	5: 34,264,429 (GRCm39)		probably null	Het
Ppip5k1	A	T	2: 121,142,871 (GRCm39)	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,847,446 (GRCm39)	H363L	probably damaging	Het
Prkdc	A	G	16: 15,496,173 (GRCm39)	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,520,116 (GRCm39)	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,756,728 (GRCm39)	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,041,919 (GRCm39)	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,801,686 (GRCm39)	V2366A	probably benign	Het
Stab2	T	A	10: 86,796,087 (GRCm39)	M387L	probably benign	Het
Syne2	T	G	12: 75,987,993 (GRCm39)	M1718R	probably damaging	Het
Synm	G	T	7: 67,384,235 (GRCm39)	F700L	probably benign	Het
Tmco4	T	C	4: 138,718,012 (GRCm39)	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,095,962 (GRCm39)	P168T	probably damaging	Het
Tril	G	T	6: 53,795,905 (GRCm39)	T439K	probably benign	Het
Trim2	A	G	3: 84,085,042 (GRCm39)	L559P	probably damaging	Het
Trim3	A	G	7: 105,268,335 (GRCm39)	V149A	probably damaging	Het
Triml2	A	G	8: 43,640,717 (GRCm39)	N191S	probably benign	Het
Usp4	A	G	9: 108,258,617 (GRCm39)	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,486,885 (GRCm39)	T670I	probably damaging	Het
Vmn2r97	G	T	17: 19,160,436 (GRCm39)	G524*	probably null	Het
Xpo5	C	A	17: 46,531,743 (GRCm39)	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,190 (GRCm39)	L84S	probably damaging	Het
Zranb2	T	G	3: 157,252,378 (GRCm39)		probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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
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'- TCAGGTCTCTGGTCCTAAGG -3'
(R):5'- TAAAAGCATCGAGTTCTAGATCCTG -3'

Sequencing Primer
(F):5'- TAGGACCTGGTGAAGCCTACTAC -3'
(R):5'- AGCATCGAGTTCTAGATCCTGTGATG -3'

Posted On

2016-05-10