Mutagenetix > Incidental Mutation

Incidental Mutation 'R9465:Dennd5b'

715121

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN domain containing 5B

Synonyms

D030011O10Rik, 9330160C06Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9465 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148889569-149003178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148908260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1011 (V1011A)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: V1011A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: V1011A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	C	4: 123,754,317 (GRCm39)	H77P	possibly damaging	Het
Adcy7	G	T	8: 89,046,778 (GRCm39)	R587L	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg4a-ps	C	T	3: 103,553,101 (GRCm39)	R80H	probably damaging	Het
Btd	G	A	14: 31,389,643 (GRCm39)	D455N	probably benign	Het
Cadps	A	G	14: 12,489,002 (GRCm38)	S852P	possibly damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Cyp2j5	T	C	4: 96,522,551 (GRCm39)	D341G	probably damaging	Het
Dlgap2	G	A	8: 14,828,226 (GRCm39)	E545K	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Gigyf2	A	G	1: 87,334,775 (GRCm39)	D262G	unknown	Het
Gstm3	T	C	3: 107,873,431 (GRCm39)	N180S	possibly damaging	Het
Helz2	G	T	2: 180,874,710 (GRCm39)	T1928K	probably benign	Het
Hipk4	T	A	7: 27,229,160 (GRCm39)	S537T	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Il24	T	C	1: 130,813,462 (GRCm39)	Q45R	probably benign	Het
Kcnh1	G	A	1: 191,924,233 (GRCm39)	G149E	probably damaging	Het
Krtap4-2	A	G	11: 99,525,391 (GRCm39)	S154P	unknown	Het
Marveld3	T	A	8: 110,688,525 (GRCm39)	H72L	possibly damaging	Het
Med1	T	C	11: 98,049,144 (GRCm39)	T551A	probably benign	Het
Mtor	T	A	4: 148,624,839 (GRCm39)	I2150N	possibly damaging	Het
Ninl	A	G	2: 150,782,726 (GRCm39)	S170P	possibly damaging	Het
Or1j14	T	C	2: 36,417,898 (GRCm39)	V158A	probably benign	Het
Or6aa1	T	C	7: 86,043,864 (GRCm39)	I281V	probably benign	Het
Otog	T	C	7: 45,955,299 (GRCm39)	V563A	possibly damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Phkb	G	A	8: 86,623,059 (GRCm39)	V128I	probably damaging	Het
Ppp2r3d	A	G	9: 124,442,222 (GRCm38)	L50P		Het
Prl2c5	C	T	13: 13,360,531 (GRCm39)	S66L	probably benign	Het
Ptbp1	T	C	10: 79,695,615 (GRCm39)	S239P	possibly damaging	Het
Repin1	A	G	6: 48,571,877 (GRCm39)	K41E	probably benign	Het
Scrn1	A	T	6: 54,502,649 (GRCm39)	I130N	probably damaging	Het
Spata31	T	A	13: 65,068,527 (GRCm39)	L225Q	probably damaging	Het
Spred1	G	A	2: 116,983,648 (GRCm39)		probably null	Het
Taar7e	A	G	10: 23,914,310 (GRCm39)	R267G	possibly damaging	Het
Tgm5	T	A	2: 120,905,633 (GRCm39)	Y174F	probably damaging	Het
Tmprss11f	T	C	5: 86,685,876 (GRCm39)	I164V	probably damaging	Het
Tomm22	T	C	15: 79,555,468 (GRCm39)	L71P	probably damaging	Het
Ttn	C	A	2: 76,577,531 (GRCm39)	G24454V	probably damaging	Het
Wdr64	A	G	1: 175,618,823 (GRCm39)	S739G	possibly damaging	Het
Zswim2	C	T	2: 83,746,275 (GRCm39)	V388I	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
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
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'- ACCACACCTGGCTAACTTTATG -3'
(R):5'- CTCAGCATATTATATAGGGAAGGTCTG -3'

Sequencing Primer
(F):5'- TCATTCAAGAGGCAGTGG -3'
(R):5'- GTAAGTTTTAGATGGAGCCAAGTCC -3'

Posted On

2022-06-15