Mutagenetix > Incidental Mutation

Incidental Mutation 'R7751:Dennd5b'

597226

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 #

R7751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149017106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 853 (I853V)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557
AA Change: I853V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: I853V

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (82/84)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,383,773	L79H	probably damaging	Het
2810474O19Rik	A	G	6: 149,325,438		probably benign	Het
Abca15	A	T	7: 120,365,821	I769F	possibly damaging	Het
Ackr1	A	C	1: 173,332,212	W247G	probably damaging	Het
Adgrl4	G	A	3: 151,492,309	G69S	probably damaging	Het
Agrn	C	T	4: 156,176,429	S710N	probably damaging	Het
Aox3	A	G	1: 58,179,335	M1103V	probably benign	Het
Asb18	G	A	1: 89,968,484	A278V	probably benign	Het
B3gat2	A	G	1: 23,762,864	E77G	probably benign	Het
C87499	T	C	4: 88,629,119	D192G	probably benign	Het
Camta1	T	C	4: 151,148,406		probably null	Het
Cbll1	A	T	12: 31,487,580	I392N	probably damaging	Het
Ccdc113	A	G	8: 95,538,201	D113G	possibly damaging	Het
Cd79a	T	C	7: 24,899,667	F148L	probably benign	Het
Chad	T	A	11: 94,565,173	C26S	probably damaging	Het
Cog4	T	C	8: 110,880,968	F696L	probably damaging	Het
Csf2rb	T	G	15: 78,341,639	S303R	probably damaging	Het
Cubn	C	T	2: 13,360,365	G1621R	probably damaging	Het
Dennd4c	T	A	4: 86,828,942	N1454K	probably benign	Het
Dopey1	A	T	9: 86,507,730	D561V	probably benign	Het
Dpysl4	A	G	7: 139,089,540	I45V	probably benign	Het
Ect2l	A	C	10: 18,169,405	S301A	possibly damaging	Het
Elf2	A	G	3: 51,257,614	V323A	probably damaging	Het
Epcam	C	T	17: 87,640,476	R125*	probably null	Het
Ephb4	T	C	5: 137,365,675	V612A	probably damaging	Het
Erich3	C	T	3: 154,763,789	R1293C	unknown	Het
F830045P16Rik	C	A	2: 129,460,447	L408F	probably damaging	Het
Fam198a	G	A	9: 121,964,821	V14I	probably benign	Het
Gm13102	T	C	4: 144,109,217	I485T	probably benign	Het
Gm14548	T	A	7: 3,895,604	I282F	probably damaging	Het
Gm16494	A	T	17: 47,016,874	L28*	probably null	Het
Grin2c	A	G	11: 115,253,870	V610A	probably damaging	Het
Hacd2	T	A	16: 35,102,064	Y208N	probably damaging	Het
Hlf	A	T	11: 90,387,995	F81Y	probably damaging	Het
Igfbp7	G	A	5: 77,351,287	A257V	probably damaging	Het
Il12a	A	T	3: 68,697,902	N167I	probably damaging	Het
Il1r2	G	A	1: 40,123,211	C338Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,715	H61Q	probably damaging	Het
Kansl1	A	G	11: 104,424,064	F383L	probably benign	Het
Kcnh8	A	G	17: 52,961,843	T863A	probably damaging	Het
Klhl36	C	A	8: 119,869,658	Q33K	probably benign	Het
Lrig2	A	T	3: 104,494,669	Y113*	probably null	Het
Lrrc36	T	A	8: 105,452,035	S287R	possibly damaging	Het
Lrrc6	T	C	15: 66,449,563	E243G	probably benign	Het
Mr1	A	T	1: 155,129,308	Y329N	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nectin4	G	A	1: 171,383,758		probably null	Het
Nsrp1	A	G	11: 77,049,271		probably null	Het
Olfr1012	A	G	2: 85,753,492	T44A	probably benign	Het
Olfr380	A	T	11: 73,453,546	I222N	possibly damaging	Het
Pcdh8	A	T	14: 79,770,703	I140N	probably damaging	Het
Pdzd8	A	G	19: 59,344,776	V271A	probably damaging	Het
Pex3	T	A	10: 13,527,806	I324L	possibly damaging	Het
Pitpnm1	T	A	19: 4,103,470	F209I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1	T	A	1: 20,200,925	T3135S	probably damaging	Het
Prdm16	T	C	4: 154,328,299	N1082S	probably damaging	Het
Psmd12	A	T	11: 107,479,613	I13F	possibly damaging	Het
Ptgs2	A	T	1: 150,104,507	I399F	probably benign	Het
Rasa3	A	T	8: 13,568,708	S830T	probably benign	Het
Rasgef1c	A	T	11: 49,970,293	R362W	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf217	C	A	10: 31,517,419	G389W	probably damaging	Het
Sec16b	A	T	1: 157,558,060	D675V	probably damaging	Het
Serpinb12	A	G	1: 106,949,671	Y137C	probably damaging	Het
Slc2a5	T	A	4: 150,143,134	I470N	probably damaging	Het
Slc5a1	T	C	5: 33,133,417	I115T	possibly damaging	Het
Slco1a4	A	T	6: 141,834,687	S126T	possibly damaging	Het
St6galnac2	T	C	11: 116,677,584	D351G	probably damaging	Het
Stat4	G	A	1: 52,082,552	V357M	possibly damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tdrd9	T	A	12: 111,992,548	C139S	probably benign	Het
Tmed9	G	A	13: 55,593,241	R23Q	not run	Het
Tmem150a	A	C	6: 72,359,045	H205P	probably damaging	Het
Tns2	C	A	15: 102,109,728	L350I	probably benign	Het
Tpr	A	G	1: 150,419,895	T964A	probably benign	Het
Traf3ip1	G	T	1: 91,494,757		probably benign	Het
Trem2	G	T	17: 48,346,539		probably benign	Het
Ttc14	G	A	3: 33,809,441	G666D	unknown	Het
Ulk1	T	C	5: 110,809,212	D40G	probably damaging	Het
Vmn1r30	A	G	6: 58,435,412	V145A	probably benign	Het
Vmn1r79	C	T	7: 12,176,835	Q215*	probably null	Het
Wnk2	G	A	13: 49,078,017	T16I	unknown	Het
Yme1l1	T	C	2: 23,187,844		probably null	Het
Zbtb16	T	A	9: 48,743,469	H454L	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	probably damaging	Het
Zrsr1	A	G	11: 22,973,595	Q123R	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
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
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'- GAGTTTGTCAGCTTACTCAATTTCC -3'
(R):5'- TGGATGCTGCTTGTCATCCATG -3'

Sequencing Primer
(F):5'- CCTTTGTATGCACAAGTCACAG -3'
(R):5'- GCTTGTCATCCATGCAACAG -3'

Posted On

2019-11-26