Mutagenetix > Incidental Mutation

Incidental Mutation 'R8946:Dennd5b'

706136

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R8946 (G1)

Quality Score

68.0074

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 149041987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313

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: 99.4%

Validation Efficiency

97% (65/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,354,368	S393G	probably damaging	Het
Ankrd28	A	G	14: 31,708,126	F862L	probably damaging	Het
Ankrd31	T	C	13: 96,909,529	*1546Q	probably null	Het
Ankrd33b	T	C	15: 31,297,748	T288A	probably benign	Het
Aox1	T	C	1: 58,106,068	I1331T	possibly damaging	Het
Atp13a5	A	G	16: 29,327,783	L231P	probably damaging	Het
C1qtnf12	T	C	4: 155,966,425	F284L	probably damaging	Het
Caprin1	A	T	2: 103,778,033	H250Q	probably damaging	Het
Cd2bp2	A	C	7: 127,194,751	I122S	probably damaging	Het
Cd300lf	T	A	11: 115,133,912		probably benign	Het
Ceacam14	A	G	7: 17,814,074	I30V	probably benign	Het
Chchd1	T	A	14: 20,703,317	*56R	probably null	Het
Ckap5	A	G	2: 91,579,516	T948A	probably benign	Het
Clec12a	A	T	6: 129,363,986	N243I	possibly damaging	Het
Col11a2	A	G	17: 34,051,783	M462V	probably benign	Het
Col6a5	C	T	9: 105,945,634	E175K	unknown	Het
Csnka2ip	T	C	16: 64,480,304		probably benign	Het
D130040H23Rik	C	A	8: 69,302,381	T146N	possibly damaging	Het
E130309D02Rik	C	G	5: 143,315,040	E19Q	probably benign	Het
Fanci	A	G	7: 79,395,978	T23A	probably benign	Het
Fmnl1	T	C	11: 103,180,915	Y83H	probably damaging	Het
Galnt13	C	A	2: 54,880,063	T289N	probably benign	Het
Gcn1l1	A	G	5: 115,595,345	D1074G	probably benign	Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,662,324		probably null	Het
Gm5415	C	T	1: 32,546,604	R75Q	probably benign	Het
Gnl1	T	C	17: 35,983,587	I366T	probably benign	Het
Gtf2ird2	A	T	5: 134,216,319	Y473F	probably damaging	Het
Ikzf1	T	A	11: 11,769,485	D397E	possibly damaging	Het
Intu	C	T	3: 40,683,359	A425V	possibly damaging	Het
Jakmip1	G	A	5: 37,185,740		probably null	Het
Lif	C	A	11: 4,269,225	P168Q	possibly damaging	Het
Mrvi1	A	T	7: 110,878,140		probably null	Het
Myh11	A	C	16: 14,230,716	S576A	probably benign	Het
Neb	A	G	2: 52,151,413	V6559A	probably damaging	Het
Nphs1	A	G	7: 30,463,200	N368S	probably damaging	Het
Npsr1	G	A	9: 24,313,229	V148I	probably benign	Het
Olfr1465	A	T	19: 13,314,138	L49Q	probably damaging	Het
Olfr566	C	A	7: 102,856,518	G255*	probably null	Het
Olfr599	T	C	7: 103,338,366	F104S	probably damaging	Het
Olfr683	T	A	7: 105,143,625	I223F	probably damaging	Het
Olfr857	C	T	9: 19,713,589	T254I	probably damaging	Het
Patz1	T	C	11: 3,291,856	C415R	probably damaging	Het
Pcdha9	A	T	18: 36,998,493	N205I	possibly damaging	Het
Pcdhga12	A	T	18: 37,766,658	E181V	probably benign	Het
Pcnx	T	C	12: 81,971,384	Y1333H	probably damaging	Het
Phf7	A	T	14: 31,248,149		probably benign	Het
Pomc	T	G	12: 3,960,298	S180A	probably benign	Het
Ppp1r7	T	A	1: 93,360,814		probably null	Het
Prrc2c	A	T	1: 162,708,909		probably benign	Het
Rsf1	GGC	GGCCACGGCCGC	7: 97,579,906		probably benign	Het
Senp1	T	C	15: 98,042,901	K664E	probably damaging	Het
Skint7	A	G	4: 111,982,001	N164S	possibly damaging	Het
Smg1	C	A	7: 118,152,677	R2775M	probably null	Het
Snrnp27	C	T	6: 86,676,244	V131M	probably damaging	Het
Spire1	C	A	18: 67,496,616	R357L	probably damaging	Het
Sspo	G	A	6: 48,457,137	V959I	probably damaging	Het
St6galnac2	T	C	11: 116,677,632	H335R	probably damaging	Het
Stard13	C	T	5: 151,060,802	R623H	probably damaging	Het
Syde1	T	A	10: 78,588,849	E383V	probably damaging	Het
Taf10	A	G	7: 105,744,317	M1T	probably null	Het
Traf3ip3	A	G	1: 193,187,107	C257R	probably damaging	Het
Trpm8	G	A	1: 88,348,339		probably benign	Het
Veph1	A	G	3: 66,263,880		probably null	Het
Vmn1r169	A	T	7: 23,577,215	T11S	possibly damaging	Het
Wdhd1	A	T	14: 47,245,295	S961T	probably benign	Het
Zfp773	T	C	7: 7,132,470	T376A	possibly damaging	Het

Other mutations in Dennd5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Dennd5b	APN	6	149027330	missense	probably damaging	1.00
IGL00590:Dennd5b	APN	6	149068308	missense	probably benign	0.03
IGL00727:Dennd5b	APN	6	149006716	splice site	probably benign
IGL00838:Dennd5b	APN	6	149005363	splice site	probably benign
IGL01115:Dennd5b	APN	6	149009748	splice site	probably benign
IGL01150:Dennd5b	APN	6	149068085	missense	probably benign	0.01
IGL01873:Dennd5b	APN	6	149044529	missense	probably benign
IGL01991:Dennd5b	APN	6	149080824	missense	probably damaging	1.00
IGL02226:Dennd5b	APN	6	149033301	missense	probably benign	0.00
IGL02820:Dennd5b	APN	6	149019342	missense	probably null	0.51
IGL03056:Dennd5b	APN	6	149055072	missense	probably damaging	1.00
IGL03085:Dennd5b	APN	6	149027395	missense	probably damaging	1.00
IGL03329:Dennd5b	APN	6	148998260	missense	possibly damaging	0.53
R0081:Dennd5b	UTSW	6	148993759	missense	probably benign	0.13
R0617:Dennd5b	UTSW	6	149033262	splice site	probably benign
R1241:Dennd5b	UTSW	6	149068490	missense	probably benign	0.06
R1252:Dennd5b	UTSW	6	149044487	missense	probably damaging	1.00
R1255:Dennd5b	UTSW	6	149041650	missense	possibly damaging	0.48
R1641:Dennd5b	UTSW	6	149068205	missense	probably damaging	1.00
R1674:Dennd5b	UTSW	6	148998284	missense	probably damaging	1.00
R1781:Dennd5b	UTSW	6	149027398	missense	probably damaging	1.00
R1861:Dennd5b	UTSW	6	149068262	missense	probably damaging	1.00
R1907:Dennd5b	UTSW	6	149041576	missense	probably benign	0.00
R2412:Dennd5b	UTSW	6	149005238	missense	possibly damaging	0.88
R3794:Dennd5b	UTSW	6	149101217	missense	possibly damaging	0.87
R3825:Dennd5b	UTSW	6	149044836	missense	probably benign
R4581:Dennd5b	UTSW	6	149016984	splice site	silent
R4654:Dennd5b	UTSW	6	149006837	missense	probably damaging	1.00
R4725:Dennd5b	UTSW	6	149044779	missense	probably damaging	0.97
R4981:Dennd5b	UTSW	6	149009772	missense	possibly damaging	0.88
R4994:Dennd5b	UTSW	6	149041500	splice site	probably null
R5400:Dennd5b	UTSW	6	149000016	missense	probably damaging	1.00
R5452:Dennd5b	UTSW	6	149041513	splice site	probably null
R5548:Dennd5b	UTSW	6	149019349	splice site	probably null
R5841:Dennd5b	UTSW	6	149044755	missense	probably benign	0.11
R5996:Dennd5b	UTSW	6	149068095	missense	probably benign	0.22
R6082:Dennd5b	UTSW	6	149068695	missense	probably damaging	0.99
R6556:Dennd5b	UTSW	6	149014251	splice site	probably null
R6812:Dennd5b	UTSW	6	149081132	start gained	probably benign
R6828:Dennd5b	UTSW	6	148993746	missense	probably damaging	0.99
R7104:Dennd5b	UTSW	6	149044604	missense	probably damaging	1.00
R7231:Dennd5b	UTSW	6	149044604	missense	probably damaging	1.00
R7325:Dennd5b	UTSW	6	149020570	missense	probably benign	0.00
R7399:Dennd5b	UTSW	6	149036483	missense	probably damaging	1.00
R7516:Dennd5b	UTSW	6	149068380	missense	probably benign	0.02
R7751:Dennd5b	UTSW	6	149017106	missense	probably benign	0.01
R7763:Dennd5b	UTSW	6	149068658	missense	probably damaging	1.00
R7770:Dennd5b	UTSW	6	149041716	missense	probably damaging	0.99
R7788:Dennd5b	UTSW	6	149068566	missense	probably benign	0.00
R7854:Dennd5b	UTSW	6	149068466	missense	probably benign	0.00
R7899:Dennd5b	UTSW	6	149041661	missense	probably damaging	1.00
R8226:Dennd5b	UTSW	6	149014248	splice site	probably null
R8328:Dennd5b	UTSW	6	149020617	missense	probably damaging	1.00
R8489:Dennd5b	UTSW	6	149084891	missense	probably benign	0.00
R8517:Dennd5b	UTSW	6	149029121	missense	probably damaging	1.00
R8556:Dennd5b	UTSW	6	148993770	missense	probably damaging	1.00
R8693:Dennd5b	UTSW	6	149009774	nonsense	probably null
R8966:Dennd5b	UTSW	6	148999976	missense	probably damaging	1.00
R9122:Dennd5b	UTSW	6	149006742	missense
R9178:Dennd5b	UTSW	6	149033346	nonsense	probably null
R9208:Dennd5b	UTSW	6	149101200	missense	probably benign	0.09
R9465:Dennd5b	UTSW	6	149006762	missense	probably damaging	1.00
R9535:Dennd5b	UTSW	6	148993867	missense	probably benign	0.03
R9541:Dennd5b	UTSW	6	148998374	missense	probably benign	0.00
R9731:Dennd5b	UTSW	6	149068640	missense	probably damaging	1.00
R9760:Dennd5b	UTSW	6	149068499	missense	probably benign	0.14
R9783:Dennd5b	UTSW	6	149009844	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGTTTCAATGAAGCGTGAAAG -3'
(R):5'- ATCTCAGCTACACATCTAGCAG -3'

Sequencing Primer
(F):5'- TAAGGCTCAGGCTGGTCAG -3'
(R):5'- ACACATCTAGCAGCCTTTTGTGAG -3'

Posted On

2022-03-30