Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Dennd5b'

731387

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 #

R9731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148988071-149101680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149068640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 127 (T127I)

Ref Sequence

ENSEMBL: ENSMUSP00000123568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111557] [ENSMUST00000127727] [ENSMUST00000145555]

AlphaFold

A2RSQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111557
AA Change: T105I

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

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: T105I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000127727
AA Change: T127I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123568
Gene: ENSMUSG00000030313
AA Change: T127I

Domain	Start	End	E-Value	Type
uDENN	18	142	5.45e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000145555
AA Change: T27I

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

SMART Domains

Protein: ENSMUSP00000127731
Gene: ENSMUSG00000030313
AA Change: T27I

Domain	Start	End	E-Value	Type
uDENN	1	42	3.03e0	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,505,721	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,212,849	R53W	unknown	Het
Abca9	G	T	11: 110,134,198	D1006E	probably benign	Het
Abcc6	T	A	7: 46,020,236	R132*	probably null	Het
Ankrd40	C	T	11: 94,338,424	T283I	probably damaging	Het
Atr	A	G	9: 95,865,039	K125E	possibly damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cep290	A	T	10: 100,510,542	L527F	probably damaging	Het
Cep295	T	C	9: 15,333,966	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Ddx54	C	T	5: 120,620,742	A350V	probably benign	Het
Defb23	C	T	2: 152,459,413	V80I	probably benign	Het
Dnah6	G	T	6: 73,191,606	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166	H1287R	probably benign	Het
Enpp7	G	A	11: 118,988,325	G37R	probably damaging	Het
Exoc2	T	C	13: 30,877,250	T554A	probably benign	Het
Fgf8	T	C	19: 45,742,407	N60D	probably benign	Het
Gdi2	A	G	13: 3,538,299	M1V	probably null	Het
Glra3	G	T	8: 56,089,023	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Greb1	C	T	12: 16,688,597	R1455H	probably damaging	Het
Grk6	C	A	13: 55,459,827	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,298,356	D73V	probably benign	Het
Hpse	G	A	5: 100,694,156	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,806,387	R506*	probably null	Het
Ing1	C	A	8: 11,561,649	T123N	probably benign	Het
Kdm2b	T	C	5: 122,987,760	D27G	probably benign	Het
Kmt2c	A	T	5: 25,372,958	D773E	probably benign	Het
Lrrc7	T	C	3: 158,175,251	D516G	probably benign	Het
Lrsam1	A	G	2: 32,945,440		probably null	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Ndufaf3	T	C	9: 108,565,959	*186W	probably null	Het
Ndufaf5	C	T	2: 140,170,887	A59V	possibly damaging	Het
Nphp3	T	C	9: 104,009,170	L281S	probably damaging	Het
Olfr1259	T	A	2: 89,943,972	I48F	possibly damaging	Het
Olfr17	T	G	7: 107,097,579	V38G	probably benign	Het
Olfr884	A	T	9: 38,047,596	I125F	probably damaging	Het
Otogl	G	T	10: 107,899,467	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,022,682	V38I	probably benign	Het
Polr2a	G	A	11: 69,747,217	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,578,325	R560Q	possibly damaging	Het
Rbm33	A	G	5: 28,339,244	E166G	probably damaging	Het
Rgs14	T	A	13: 55,380,971	Y308*	probably null	Het
Rpl10a	T	C	17: 28,328,620		probably benign	Het
Rras2	A	C	7: 114,060,358	I57S	probably damaging	Het
Scn1b	C	T	7: 31,125,171	V31M	probably damaging	Het
Sema6d	G	A	2: 124,664,197	A642T	probably damaging	Het
Sis	T	A	3: 72,928,210	T940S	probably benign	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,926,761	Q4*	probably null	Het
Slc44a2	T	A	9: 21,352,474	I646N	possibly damaging	Het
Sprtn	C	A	8: 124,902,965	Y332*	probably null	Het
Srpk1	A	G	17: 28,606,323	I125T	probably damaging	Het
Sv2b	G	A	7: 75,136,320	H451Y	probably benign	Het
Tec	G	A	5: 72,782,096	T192M	probably benign	Het
Tldc1	C	A	8: 119,771,271	A165S	probably benign	Het
Tlr3	G	A	8: 45,397,907	T127M	probably damaging	Het
Trim25	C	A	11: 89,015,565	P405T	probably benign	Het
Trpm4	T	C	7: 45,308,630	D952G	probably damaging	Het
Tsc1	A	G	2: 28,676,474	D635G	probably benign	Het
Ttc7b	T	C	12: 100,495,424	E98G	possibly damaging	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Usp19	T	A	9: 108,499,686	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,903,937	L632M	probably benign	Het
Vps13c	C	T	9: 67,919,244	T1389I	probably benign	Het
Wasf1	T	A	10: 40,930,735	Y125N	probably damaging	Het
Zadh2	T	G	18: 84,095,003	V268G	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
R9541:Dennd5b	UTSW	6	148998374	missense	probably benign	0.00
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'- ACTTGCCAGTGAGTCCATAC -3'
(R):5'- TAAGGGAAGAGCTTACACTACGTTTC -3'

Sequencing Primer
(F):5'- TGCCAGTGAGTCCATACTGCAAG -3'
(R):5'- GTGGCTCATGACCATCTGTAACAG -3'

Posted On

2022-11-14