Mutagenetix > Incidental Mutation

Incidental Mutation 'R7788:Dennd5b'

599664

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: 0.153) question?

Stock #

R7788 (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 149068566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 52 (T52A)

Ref Sequence

ENSEMBL: ENSMUSP00000127731 (fasta)

Gene Model

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

AlphaFold

A2RSQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000111557
AA Change: T130A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: T130A

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 benign
Transcript: ENSMUST00000127727

SMART Domains

Protein: ENSMUSP00000123568
Gene: ENSMUSG00000030313

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145555
AA Change: T52A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127731
Gene: ENSMUSG00000030313
AA Change: T52A

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

Meta Mutation Damage Score

0.0839

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,156,593	H473L	possibly damaging	Het
Adam7	A	T	14: 68,512,645	V442E	possibly damaging	Het
Adgrv1	A	T	13: 81,573,314	V715D	probably damaging	Het
Aldh1l1	A	C	6: 90,569,912	D399A	probably benign	Het
Ankrd23	T	C	1: 36,531,727	N274S	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Arpc4	A	T	6: 113,385,604	M149L	probably benign	Het
Bdp1	T	C	13: 100,055,251	T1407A	possibly damaging	Het
Calml3	A	T	13: 3,804,121	I28N	probably damaging	Het
Cdhr3	A	G	12: 33,060,320	S322P	probably damaging	Het
Cntn5	A	G	9: 9,704,929	S622P	probably benign	Het
Col22a1	A	G	15: 71,952,317		probably null	Het
Csf2rb2	A	T	15: 78,292,841	I143N	probably benign	Het
Cwh43	T	C	5: 73,415,034	L205P	probably damaging	Het
Dhx40	A	G	11: 86,775,676	I597T	possibly damaging	Het
Dnajc21	A	G	15: 10,460,047	L268P	probably damaging	Het
Dzip1	A	T	14: 118,883,393	D717E	probably benign	Het
Elmo3	A	G	8: 105,308,244	N389D	probably damaging	Het
Evi2a	T	C	11: 79,527,942	E14G	unknown	Het
Fam149a	T	A	8: 45,381,517	R82W	probably damaging	Het
Farp1	A	T	14: 121,276,253	E820V	probably benign	Het
Fgd5	T	A	6: 91,988,459	S400T	possibly damaging	Het
Flnc	G	A	6: 29,456,444	V2214I	possibly damaging	Het
Galnt4	C	A	10: 99,109,113	N233K	possibly damaging	Het
Gbp5	A	G	3: 142,503,080	Y128C	probably damaging	Het
Gm12394	A	T	4: 42,793,546	H195Q	possibly damaging	Het
Gm4871	G	A	5: 145,032,610	T33I	probably benign	Het
Gm5592	T	C	7: 41,286,694	S207P	probably benign	Het
Gm9573	A	T	17: 35,618,906	S1463T	unknown	Het
Gtf2ird1	A	T	5: 134,417,131	C15*	probably null	Het
Ick	G	C	9: 78,167,620	V586L	probably benign	Het
Ido2	T	A	8: 24,547,226	I155F	probably damaging	Het
Ifi27l2b	A	T	12: 103,457,009		probably null	Het
Il15ra	C	T	2: 11,723,593	T49I	probably damaging	Het
Itpr3	T	A	17: 27,118,597	C2460*	probably null	Het
Kcnj11	T	C	7: 46,099,755	N48S	probably damaging	Het
Lmo7	A	C	14: 101,898,576	N695T	possibly damaging	Het
Mmp15	C	A	8: 95,368,148	H217N	probably damaging	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myo5c	A	T	9: 75,279,345	D991V	probably damaging	Het
Nfkbid	T	A	7: 30,427,178	N396K	probably damaging	Het
Oas1c	A	G	5: 120,801,042	F361L	probably benign	Het
Olfr22-ps1	A	T	11: 73,955,122	Y144F	probably benign	Het
Olfr433	A	G	1: 174,042,084	I45V	probably benign	Het
Osbpl9	T	C	4: 109,062,494	K606E	probably benign	Het
Pkp2	C	A	16: 16,225,408	L111I	probably benign	Het
Pogz	A	G	3: 94,875,233	Y635C	probably damaging	Het
Prdx2	A	G	8: 84,971,674	T165A	probably benign	Het
Ptcd3	T	C	6: 71,885,557	I465V	probably benign	Het
Ptprd	G	A	4: 75,998,604	T770I	probably damaging	Het
Rapgef6	A	G	11: 54,694,399	Y1541C	probably damaging	Het
Rilpl1	A	T	5: 124,496,137		probably null	Het
Rimbp3	T	A	16: 17,212,704	Y1331N	probably benign	Het
Sav1	T	C	12: 69,984,221	R176G	probably damaging	Het
Sirt5	A	G	13: 43,383,147	H219R	probably benign	Het
Skint5	T	G	4: 113,546,518	D1169A	unknown	Het
Slfn9	G	T	11: 82,982,641	Q479K	possibly damaging	Het
Soga1	C	T	2: 157,027,584	A1044T	probably benign	Het
Susd4	T	C	1: 182,895,202	I483T	possibly damaging	Het
Tmem156	C	T	5: 65,075,569	V217I	possibly damaging	Het
Tmem79	A	G	3: 88,332,642	Y254H	probably benign	Het
Tmprss2	T	A	16: 97,576,229	K223*	probably null	Het
Trav3-1	T	C	14: 52,581,124	V85A	probably damaging	Het
Ttn	T	C	2: 76,885,756		probably null	Het
Vmn2r22	T	C	6: 123,637,600	I344V	not run	Het
Vps13c	A	T	9: 67,940,483	M2176L	probably benign	Het
Wdfy3	A	T	5: 101,848,357	V3213D	probably damaging	Het
Zbtb21	G	A	16: 97,951,454	T543M	possibly damaging	Het
Zc3hav1	A	T	6: 38,332,756	V377D	probably benign	Het
Zswim3	T	C	2: 164,819,779	C60R	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
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'- AAGAGGAATTTCTTGCAGGCTTG -3'
(R):5'- CCTGTACTGCGTTCTGATGC -3'

Sequencing Primer
(F):5'- AGGTGTGATCAAGCAGATACTTTTTG -3'
(R):5'- GTACTGCGTTCTGATGCTTTCC -3'

Posted On

2019-11-26