Mutagenetix > Incidental Mutation

Incidental Mutation 'R9122:Dennd5b'

692816

Institutional Source

Beutler Lab

Gene Symbol

Dennd5b

Ensembl Gene

ENSMUSG00000030313

Gene Name

DENN/MADD domain containing 5B

Synonyms

9330160C06Rik, D030011O10Rik

MMRRC Submission

068924-MU

Accession Numbers

Essential gene?

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

Stock #

R9122 (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 149006742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1018 (T1018A)

Ref Sequence

ENSEMBL: ENSMUSP00000107182 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: T1018A

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: 99.9%
20x: 99.7%

Validation Efficiency

100% (42/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 35,893,071	S185T	probably benign	Het
3632451O06Rik	A	T	14: 49,774,002	Y83N	possibly damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cacna1d	C	A	14: 30,123,445	R611L	probably damaging	Het
Cacna1d	G	A	14: 30,130,168	T498I	probably benign	Het
Cc2d2a	T	A	5: 43,673,739	D57E	probably null	Het
Cd180	C	A	13: 102,705,009	L188M	probably damaging	Het
Chd7	A	G	4: 8,840,510	K1426R	possibly damaging	Het
Cntnap5c	A	T	17: 58,104,606	D495V	probably benign	Het
Col11a1	T	A	3: 114,113,600	M630K	unknown	Het
Cxxc1	T	G	18: 74,217,175	D4E	probably benign	Het
Ddx31	G	A	2: 28,858,741	R227Q	probably damaging	Het
Ddx60	A	G	8: 61,989,864	M1109V	probably benign	Het
Ggta1	A	T	2: 35,413,324		probably null	Het
Gm11639	A	T	11: 104,965,779	D3840V	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gpr37l1	C	T	1: 135,167,471	V12I	probably benign	Het
Grin2a	A	T	16: 9,579,322	V967E	possibly damaging	Het
Helz	A	G	11: 107,666,004	T1283A	probably benign	Het
Hist3h2a	T	C	11: 58,954,841	L35P	probably damaging	Het
Ints1	A	G	5: 139,760,175	M1315T	possibly damaging	Het
Klri1	T	A	6: 129,717,032	R31*	probably null	Het
Nadk	T	A	4: 155,586,818	N226K	probably benign	Het
Ncapg	T	C	5: 45,688,673	F624S	possibly damaging	Het
Nxn	A	T	11: 76,278,491	I154N	probably damaging	Het
Pclo	T	C	5: 14,679,984	V2952A	unknown	Het
Poc1a	T	C	9: 106,285,043	V89A	probably benign	Het
Pou2f2	T	A	7: 25,092,877	T518S	probably benign	Het
Pou5f1	C	T	17: 35,509,056	T7I	probably benign	Het
Prss44	T	C	9: 110,817,294	V363A	probably damaging	Het
Rhobtb1	T	C	10: 69,270,823	V468A	probably damaging	Het
Slc24a1	C	A	9: 64,927,196	M981I	probably benign	Het
Tacc1	G	T	8: 25,169,239	S570R	probably damaging	Het
Tcrg-V1	G	A	13: 19,340,160	G18E	probably damaging	Het
Tle3	C	T	9: 61,407,473		probably benign	Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Trim23	A	G	13: 104,181,173	T61A	probably benign	Het
Tshr	C	A	12: 91,511,963	H195N	probably benign	Het
Ttn	A	G	2: 76,881,807	S8202P	unknown	Het
Ufsp2	A	T	8: 45,985,404	Y248F	probably benign	Het
Vmn2r12	T	A	5: 109,093,044	I68L	probably benign	Het
Wdfy3	C	A	5: 101,943,965	V503L	probably damaging	Het
Zfp788	A	T	7: 41,650,495	K852*	probably null	Het
Zfp980	A	C	4: 145,702,264	H521P	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
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'- CCTCCTGAGTGCTGGGATTTAAG -3'
(R):5'- GTTTTAGATGGAGCCAAGTCCACG -3'

Sequencing Primer
(F):5'- ACCACACCTGGCTAACTTTATG -3'
(R):5'- GAGCCAAGTCCACGACTAAAGTG -3'

Posted On

2021-12-30