Mutagenetix > Incidental Mutation

Incidental Mutation 'R8517:Dennd5b'

656208

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

067849-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R8517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 149029121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 743 (C743G)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: C743G

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

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: C743G

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,942,969	D131E	probably damaging	Het
Abca17	C	A	17: 24,317,233	V487F	probably benign	Het
Anapc5	T	C	5: 122,821,030	S41G	probably benign	Het
Aoc1	C	T	6: 48,906,710	Q507*	probably null	Het
Ccdc171	G	A	4: 83,743,061	R1136H	probably damaging	Het
Clspn	A	G	4: 126,566,219	D413G	probably benign	Het
Copz2	A	G	11: 96,853,483	K74E	possibly damaging	Het
Cpsf4l	C	A	11: 113,708,825	A45S	probably benign	Het
Cr2	T	C	1: 195,155,899	I710V	probably benign	Het
Csmd2	G	A	4: 128,552,686	R3348Q		Het
Dchs2	A	G	3: 83,271,112	I1157M	probably damaging	Het
Dcst1	A	G	3: 89,365,148	F3L	probably benign	Het
Dnah6	T	C	6: 73,178,457	E725G	probably benign	Het
Dnajc3	G	T	14: 118,953,177	G51*	probably null	Het
Dyrk2	T	C	10: 118,861,021	T111A	probably benign	Het
F5	T	A	1: 164,176,253	F206I	probably damaging	Het
Fam217b	T	A	2: 178,420,772	S176R	probably benign	Het
Farsb	A	T	1: 78,463,296	L313*	probably null	Het
Fbxo18	A	G	2: 11,777,430		probably null	Het
Fgd4	G	A	16: 16,422,645	T740I	probably benign	Het
Gm14124	A	T	2: 150,268,123	E244D	probably benign	Het
Gprc6a	G	T	10: 51,631,241	A64D	probably benign	Het
Gtf3c1	A	T	7: 125,654,551	V1365E	probably damaging	Het
Hdc	C	G	2: 126,597,970		probably null	Het
Igkv5-39	T	G	6: 69,900,569	I68L	possibly damaging	Het
Kcnh2	A	T	5: 24,326,638	V425D	probably damaging	Het
Kcnj12	T	C	11: 61,069,373	S166P	probably benign	Het
Krtap16-1	A	T	11: 99,985,698	C293*	probably null	Het
Map7	T	C	10: 20,261,835	V251A	probably damaging	Het
Myo7b	G	T	18: 31,967,191	L1597M	possibly damaging	Het
Nmu	T	C	5: 76,345,479	E82G	possibly damaging	Het
Nup85	T	C	11: 115,564,564		probably null	Het
Nwd2	A	G	5: 63,791,582	N166D	probably damaging	Het
Olfr667	T	A	7: 104,916,474	H274L	possibly damaging	Het
Pbrm1	C	A	14: 31,067,782	D784E	probably benign	Het
Pcdhgb1	T	A	18: 37,682,064	M536K	possibly damaging	Het
Pml	T	A	9: 58,220,368	Q698L	possibly damaging	Het
Pon1	T	C	6: 5,171,769	Y294C	probably benign	Het
Rasal2	T	C	1: 157,146,279		probably null	Het
Rims1	T	A	1: 22,483,165	H484L	probably damaging	Het
Rpia	C	A	6: 70,766,646	V274L	possibly damaging	Het
Sart1	A	G	19: 5,383,197	L424P	probably damaging	Het
Scnm1	A	C	3: 95,132,823		probably null	Het
Slfn8	T	A	11: 83,004,142	M613L	possibly damaging	Het
Snph	A	G	2: 151,593,721	V429A	probably damaging	Het
Tarbp1	T	A	8: 126,444,195	D1022V	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Ttc8	A	G	12: 98,943,335	N100D	probably benign	Het
Zbtb49	T	A	5: 38,200,653	H752L	probably benign	Het
Zfp263	T	C	16: 3,746,896		probably null	Het
Zfp46	A	G	4: 136,291,147	T431A	probably benign	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
R8556:Dennd5b	UTSW	6	148993770	missense	probably damaging	1.00
R8693:Dennd5b	UTSW	6	149009774	nonsense	probably null
R8946:Dennd5b	UTSW	6	149041987	intron	probably benign
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'- TCACGACTTCAGTGAAGAGC -3'
(R):5'- CTCTGCCTTCTATCAAGAGCAC -3'

Sequencing Primer
(F):5'- AGGACCTGGATTTGATTCCCAGTAC -3'
(R):5'- TGCCTTCTATCAAGAGCACTAAAATC -3'

Posted On

2020-10-20