Mutagenetix > Incidental Mutation

Incidental Mutation 'R9541:Dennd5b'

719871

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: 0.227) question?

Stock #

R9541 (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 G at 148998374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1175 (V1175A)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557
AA Change: V1175A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: V1175A

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: 99.1%
20x: 96.5%

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
Abcc8	T	C	7: 46,151,655	I450V	probably benign	Het
Adam21	T	C	12: 81,560,950	T13A	probably benign	Het
Adamts4	C	A	1: 171,257,126	P644H	probably damaging	Het
Ak9	C	T	10: 41,367,177	A689V		Het
Ankhd1	G	A	18: 36,624,644	S209N		Het
Anks1b	A	T	10: 90,577,085	T32S	probably benign	Het
Atp13a4	G	T	16: 29,422,726	T708K		Het
B4gat1	C	T	19: 5,039,868	P298S	probably damaging	Het
Btbd9	A	G	17: 30,220,464	L583P	possibly damaging	Het
Ciart	C	A	3: 95,881,215	C104F	possibly damaging	Het
Coq5	T	C	5: 115,279,842	S44P	probably benign	Het
Filip1	T	A	9: 79,819,853	K495*	probably null	Het
Fscn2	G	A	11: 120,367,945	V439M	probably damaging	Het
Gcn1l1	A	G	5: 115,616,357	I2339V	probably benign	Het
Gmppa	T	A	1: 75,440,450	S176R	probably damaging	Het
Gpatch3	G	A	4: 133,578,284	E277K	probably benign	Het
Hcn4	A	G	9: 58,860,402	D1082G	probably damaging	Het
Hdgfl2	T	A	17: 56,098,976	D487E	unknown	Het
Ifna14	A	T	4: 88,571,773	M9K	probably null	Het
Igkv4-81	A	G	6: 68,990,941	Y59H		Het
Il2rb	T	A	15: 78,488,193	N108I	probably benign	Het
Jarid2	C	T	13: 44,914,777	R1092W	possibly damaging	Het
Kdm5d	T	G	Y: 910,801	C304W	probably damaging	Het
Khnyn	T	C	14: 55,886,652	I121T	possibly damaging	Het
Lmcd1	A	T	6: 112,329,863	H332L	probably damaging	Het
Lrp1b	T	C	2: 41,344,588	D1117G		Het
Med25	A	G	7: 44,891,843	V82A	possibly damaging	Het
Mindy2	G	A	9: 70,605,226	R581C	possibly damaging	Het
Mindy3	T	C	2: 12,386,638	T257A	probably damaging	Het
Myo1e	A	T	9: 70,297,346	Y76F	probably damaging	Het
Npas2	A	T	1: 39,338,113	I519F	possibly damaging	Het
Olfr1275	T	A	2: 111,230,930	T288S	probably damaging	Het
Olfr92	C	T	17: 37,111,932	D17N	probably benign	Het
Olfr995	T	A	2: 85,438,681	H159L	possibly damaging	Het
Otx1	A	G	11: 21,997,052	F86L	probably damaging	Het
Pcm1	A	G	8: 41,327,579	D1856G	probably benign	Het
Pcsk7	G	A	9: 45,909,470	E67K	probably benign	Het
Pkd2	A	G	5: 104,460,061	Y142C	probably damaging	Het
Ptpre	A	G	7: 135,665,011	D236G	probably benign	Het
Rasd2	T	C	8: 75,218,572	C10R	probably benign	Het
Rd3	C	A	1: 191,985,333	R140S	possibly damaging	Het
Rusc1	T	G	3: 89,091,615	T287P	possibly damaging	Het
Slc22a7	T	C	17: 46,438,158	S78G	probably damaging	Het
Sltm	A	T	9: 70,573,775	H303L	unknown	Het
Syne4	G	A	7: 30,316,918	V228I	probably benign	Het
Timm22	T	A	11: 76,409,815	C138S	possibly damaging	Het
Trib2	T	A	12: 15,816,826	I15L	unknown	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Tyro3	T	C	2: 119,812,108	V591A	possibly damaging	Het
Vmn2r69	A	G	7: 85,407,001	V643A	probably benign	Het
Zfp281	G	T	1: 136,627,565	Q760H	probably 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
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
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'- GGGCATAACCTGGTCTAACC -3'
(R):5'- AATGGTTTGGGTCAGAGGAC -3'

Sequencing Primer
(F):5'- GGGCATAACCTGGTCTAACCTTTTC -3'
(R):5'- GTCAGAGGACTGGCTATGATGCC -3'

Posted On

2022-07-18