Mutagenetix > Incidental Mutation

Incidental Mutation 'R5466:Dennd4b'

433233

Institutional Source

Beutler Lab

Gene Symbol

Dennd4b

Ensembl Gene

ENSMUSG00000042404

Gene Name

DENN domain containing 4B

Synonyms

MMRRC Submission

043027-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R5466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90172492-90187976 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 90175807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000098914] [ENSMUST00000098914] [ENSMUST00000098914] [ENSMUST00000098914] [ENSMUST00000098914] [ENSMUST00000129564] [ENSMUST00000129564] [ENSMUST00000129564] [ENSMUST00000129564] [ENSMUST00000129564] [ENSMUST00000184882]

AlphaFold

Q3U1Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000029545

SMART Domains

Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936

Domain	Start	End	E-Value	Type
Pfam:TORC_N	18	72	1.8e-20	PFAM
low complexity region	127	141	N/A	INTRINSIC
Pfam:TORC_M	168	323	3.7e-71	PFAM
low complexity region	335	384	N/A	INTRINSIC
low complexity region	391	416	N/A	INTRINSIC
low complexity region	432	439	N/A	INTRINSIC
low complexity region	484	494	N/A	INTRINSIC
low complexity region	517	528	N/A	INTRINSIC
Pfam:TORC_C	614	691	4.3e-31	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098914

SMART Domains

Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
uDENN	183	290	1.15e-29	SMART
DENN	324	508	5.26e-70	SMART
dDENN	573	647	1.75e-25	SMART
low complexity region	672	690	N/A	INTRINSIC
low complexity region	740	752	N/A	INTRINSIC
coiled coil region	902	928	N/A	INTRINSIC
low complexity region	1022	1038	N/A	INTRINSIC
low complexity region	1086	1096	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC
low complexity region	1131	1148	N/A	INTRINSIC
low complexity region	1338	1350	N/A	INTRINSIC
low complexity region	1424	1439	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098914

SMART Domains

Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
uDENN	183	290	1.15e-29	SMART
DENN	324	508	5.26e-70	SMART
dDENN	573	647	1.75e-25	SMART
low complexity region	672	690	N/A	INTRINSIC
low complexity region	740	752	N/A	INTRINSIC
coiled coil region	902	928	N/A	INTRINSIC
low complexity region	1022	1038	N/A	INTRINSIC
low complexity region	1086	1096	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC
low complexity region	1131	1148	N/A	INTRINSIC
low complexity region	1338	1350	N/A	INTRINSIC
low complexity region	1424	1439	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098914

SMART Domains

Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
uDENN	183	290	1.15e-29	SMART
DENN	324	508	5.26e-70	SMART
dDENN	573	647	1.75e-25	SMART
low complexity region	672	690	N/A	INTRINSIC
low complexity region	740	752	N/A	INTRINSIC
coiled coil region	902	928	N/A	INTRINSIC
low complexity region	1022	1038	N/A	INTRINSIC
low complexity region	1086	1096	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC
low complexity region	1131	1148	N/A	INTRINSIC
low complexity region	1338	1350	N/A	INTRINSIC
low complexity region	1424	1439	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098914

SMART Domains

Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
uDENN	183	290	1.15e-29	SMART
DENN	324	508	5.26e-70	SMART
dDENN	573	647	1.75e-25	SMART
low complexity region	672	690	N/A	INTRINSIC
low complexity region	740	752	N/A	INTRINSIC
coiled coil region	902	928	N/A	INTRINSIC
low complexity region	1022	1038	N/A	INTRINSIC
low complexity region	1086	1096	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC
low complexity region	1131	1148	N/A	INTRINSIC
low complexity region	1338	1350	N/A	INTRINSIC
low complexity region	1424	1439	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098914

SMART Domains

Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
uDENN	183	290	1.15e-29	SMART
DENN	324	508	5.26e-70	SMART
dDENN	573	647	1.75e-25	SMART
low complexity region	672	690	N/A	INTRINSIC
low complexity region	740	752	N/A	INTRINSIC
coiled coil region	902	928	N/A	INTRINSIC
low complexity region	1022	1038	N/A	INTRINSIC
low complexity region	1086	1096	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC
low complexity region	1131	1148	N/A	INTRINSIC
low complexity region	1338	1350	N/A	INTRINSIC
low complexity region	1424	1439	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129564

SMART Domains

Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
uDENN	172	279	1.15e-29	SMART
DENN	313	497	5.26e-70	SMART
dDENN	562	636	1.75e-25	SMART
low complexity region	661	679	N/A	INTRINSIC
low complexity region	729	741	N/A	INTRINSIC
coiled coil region	891	917	N/A	INTRINSIC
low complexity region	1011	1027	N/A	INTRINSIC
low complexity region	1075	1085	N/A	INTRINSIC
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1120	1137	N/A	INTRINSIC
low complexity region	1327	1339	N/A	INTRINSIC
low complexity region	1413	1428	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129564

SMART Domains

Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
uDENN	172	279	1.15e-29	SMART
DENN	313	497	5.26e-70	SMART
dDENN	562	636	1.75e-25	SMART
low complexity region	661	679	N/A	INTRINSIC
low complexity region	729	741	N/A	INTRINSIC
coiled coil region	891	917	N/A	INTRINSIC
low complexity region	1011	1027	N/A	INTRINSIC
low complexity region	1075	1085	N/A	INTRINSIC
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1120	1137	N/A	INTRINSIC
low complexity region	1327	1339	N/A	INTRINSIC
low complexity region	1413	1428	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129564

SMART Domains

Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
uDENN	172	279	1.15e-29	SMART
DENN	313	497	5.26e-70	SMART
dDENN	562	636	1.75e-25	SMART
low complexity region	661	679	N/A	INTRINSIC
low complexity region	729	741	N/A	INTRINSIC
coiled coil region	891	917	N/A	INTRINSIC
low complexity region	1011	1027	N/A	INTRINSIC
low complexity region	1075	1085	N/A	INTRINSIC
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1120	1137	N/A	INTRINSIC
low complexity region	1327	1339	N/A	INTRINSIC
low complexity region	1413	1428	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129564

SMART Domains

Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
uDENN	172	279	1.15e-29	SMART
DENN	313	497	5.26e-70	SMART
dDENN	562	636	1.75e-25	SMART
low complexity region	661	679	N/A	INTRINSIC
low complexity region	729	741	N/A	INTRINSIC
coiled coil region	891	917	N/A	INTRINSIC
low complexity region	1011	1027	N/A	INTRINSIC
low complexity region	1075	1085	N/A	INTRINSIC
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1120	1137	N/A	INTRINSIC
low complexity region	1327	1339	N/A	INTRINSIC
low complexity region	1413	1428	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129564

SMART Domains

Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
uDENN	172	279	1.15e-29	SMART
DENN	313	497	5.26e-70	SMART
dDENN	562	636	1.75e-25	SMART
low complexity region	661	679	N/A	INTRINSIC
low complexity region	729	741	N/A	INTRINSIC
coiled coil region	891	917	N/A	INTRINSIC
low complexity region	1011	1027	N/A	INTRINSIC
low complexity region	1075	1085	N/A	INTRINSIC
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1120	1137	N/A	INTRINSIC
low complexity region	1327	1339	N/A	INTRINSIC
low complexity region	1413	1428	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149422

Predicted Effect

probably benign
Transcript: ENSMUST00000151648

SMART Domains

Protein: ENSMUSP00000121350
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
uDENN	2	57	3.71e-6	SMART
Pfam:DENN	91	157	2.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156358

SMART Domains

Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Blast:uDENN	39	97	9e-6	BLAST
Blast:uDENN	164	207	1e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156358

SMART Domains

Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Blast:uDENN	39	97	9e-6	BLAST
Blast:uDENN	164	207	1e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156358

SMART Domains

Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Blast:uDENN	39	97	9e-6	BLAST
Blast:uDENN	164	207	1e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156358

SMART Domains

Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Blast:uDENN	39	97	9e-6	BLAST
Blast:uDENN	164	207	1e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156358

SMART Domains

Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Blast:uDENN	39	97	9e-6	BLAST
Blast:uDENN	164	207	1e-22	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183900

Predicted Effect

probably benign
Transcript: ENSMUST00000184882

SMART Domains

Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:TORC_M	83	239	6.5e-65	PFAM
low complexity region	250	299	N/A	INTRINSIC
low complexity region	306	331	N/A	INTRINSIC
low complexity region	347	354	N/A	INTRINSIC
low complexity region	399	409	N/A	INTRINSIC
low complexity region	432	443	N/A	INTRINSIC

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,541,733 (GRCm39)	A17E	probably benign	Het
Actc1	T	C	2: 113,880,979 (GRCm39)	D82G	probably damaging	Het
Aox1	G	C	1: 58,080,619 (GRCm39)	E23Q	probably damaging	Het
Arap3	A	G	18: 38,129,789 (GRCm39)	V124A	probably benign	Het
Armc5	A	G	7: 127,839,336 (GRCm39)	N218S	probably damaging	Het
Cacna2d1	T	A	5: 16,451,712 (GRCm39)	V192E	probably damaging	Het
Col6a5	T	A	9: 105,808,282 (GRCm39)	E922V	unknown	Het
Dnah12	A	G	14: 26,493,007 (GRCm39)	D1256G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpy19l1	T	C	9: 24,325,684 (GRCm39)	E707G	probably damaging	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fgf11	T	C	11: 69,690,267 (GRCm39)	I107V	probably damaging	Het
Fuca2	C	T	10: 13,388,441 (GRCm39)	Q406*	probably null	Het
Gm10428	A	G	11: 62,643,932 (GRCm39)		probably benign	Het
Gm17430	A	G	18: 9,726,228 (GRCm39)	V148A	probably benign	Het
Gm5930	A	T	14: 44,575,014 (GRCm39)	N57K	probably damaging	Het
Gucy2c	T	A	6: 136,758,463 (GRCm39)	K48*	probably null	Het
Ip6k2	C	T	9: 108,675,661 (GRCm39)	R109C	probably damaging	Het
Kif21b	T	A	1: 136,075,263 (GRCm39)	F159I	probably damaging	Het
Macf1	A	T	4: 123,346,658 (GRCm39)	S1981T	possibly damaging	Het
Mga	T	A	2: 119,733,178 (GRCm39)	L9M	probably damaging	Het
Mov10l1	T	C	15: 88,869,904 (GRCm39)		probably null	Het
Msrb1	A	T	17: 24,958,533 (GRCm39)	H39L	possibly damaging	Het
Or4c117	A	T	2: 88,955,477 (GRCm39)	F199L	probably benign	Het
Or6b1	A	T	6: 42,815,027 (GRCm39)	T71S	probably benign	Het
Pcdha1	G	A	18: 37,065,312 (GRCm39)	A659T	possibly damaging	Het
Pcm1	T	A	8: 41,725,499 (GRCm39)		probably null	Het
Rfpl4b	C	A	10: 38,697,394 (GRCm39)	C69F	probably damaging	Het
Tnn	G	A	1: 159,948,106 (GRCm39)	T869I	possibly damaging	Het
Trp53i11	C	A	2: 93,029,728 (GRCm39)	L121I	possibly damaging	Het
Uimc1	A	G	13: 55,223,661 (GRCm39)	S204P	probably damaging	Het
Usp43	A	T	11: 67,804,709 (GRCm39)	N169K	probably damaging	Het
Vldlr	A	G	19: 27,217,243 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,579,030 (GRCm39)	I834M	probably damaging	Het
Zbtb21	A	G	16: 97,751,698 (GRCm39)	S690P	possibly damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Dennd4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Dennd4b	APN	3	90,178,514 (GRCm39)	missense	possibly damaging	0.83
IGL00834:Dennd4b	APN	3	90,186,993 (GRCm39)	critical splice donor site	probably null
IGL01124:Dennd4b	APN	3	90,176,381 (GRCm39)	missense	possibly damaging	0.61
IGL01792:Dennd4b	APN	3	90,187,152 (GRCm39)	missense	probably damaging	0.96
IGL01895:Dennd4b	APN	3	90,182,874 (GRCm39)	missense	probably benign	0.00
IGL02533:Dennd4b	APN	3	90,179,617 (GRCm39)	missense	probably benign	0.02
IGL02630:Dennd4b	APN	3	90,180,284 (GRCm39)	missense	probably benign	0.00
R0107:Dennd4b	UTSW	3	90,180,043 (GRCm39)	missense	possibly damaging	0.92
R0143:Dennd4b	UTSW	3	90,179,671 (GRCm39)	missense	probably damaging	1.00
R1079:Dennd4b	UTSW	3	90,178,485 (GRCm39)	missense	probably benign
R1306:Dennd4b	UTSW	3	90,178,472 (GRCm39)	missense	probably benign	0.00
R1525:Dennd4b	UTSW	3	90,178,177 (GRCm39)	missense	probably damaging	0.97
R1756:Dennd4b	UTSW	3	90,178,912 (GRCm39)	missense	probably damaging	1.00
R1959:Dennd4b	UTSW	3	90,176,080 (GRCm39)	missense	probably damaging	1.00
R1976:Dennd4b	UTSW	3	90,180,362 (GRCm39)	missense	probably damaging	1.00
R2184:Dennd4b	UTSW	3	90,182,847 (GRCm39)	missense	probably damaging	1.00
R2296:Dennd4b	UTSW	3	90,182,821 (GRCm39)	missense	probably damaging	1.00
R2406:Dennd4b	UTSW	3	90,182,795 (GRCm39)	missense	probably damaging	1.00
R2408:Dennd4b	UTSW	3	90,178,882 (GRCm39)	nonsense	probably null
R4691:Dennd4b	UTSW	3	90,179,619 (GRCm39)	missense	probably damaging	1.00
R5376:Dennd4b	UTSW	3	90,185,363 (GRCm39)	missense	probably benign	0.00
R5555:Dennd4b	UTSW	3	90,175,675 (GRCm39)	missense	probably damaging	1.00
R5556:Dennd4b	UTSW	3	90,175,675 (GRCm39)	missense	probably damaging	1.00
R5557:Dennd4b	UTSW	3	90,175,675 (GRCm39)	missense	probably damaging	1.00
R5605:Dennd4b	UTSW	3	90,175,675 (GRCm39)	missense	probably damaging	1.00
R5617:Dennd4b	UTSW	3	90,182,933 (GRCm39)	missense	probably benign
R5692:Dennd4b	UTSW	3	90,185,090 (GRCm39)	missense	probably damaging	1.00
R5790:Dennd4b	UTSW	3	90,184,757 (GRCm39)	missense	probably damaging	1.00
R5957:Dennd4b	UTSW	3	90,178,272 (GRCm39)	missense	probably damaging	1.00
R6130:Dennd4b	UTSW	3	90,183,566 (GRCm39)	missense	probably damaging	1.00
R6183:Dennd4b	UTSW	3	90,182,875 (GRCm39)	utr 3 prime	probably benign
R6505:Dennd4b	UTSW	3	90,174,918 (GRCm39)	missense	probably damaging	1.00
R6631:Dennd4b	UTSW	3	90,185,039 (GRCm39)	splice site	probably null
R6801:Dennd4b	UTSW	3	90,176,086 (GRCm39)	missense	probably damaging	0.98
R7409:Dennd4b	UTSW	3	90,181,259 (GRCm39)	missense	probably benign	0.15
R7457:Dennd4b	UTSW	3	90,176,622 (GRCm39)	missense	probably benign
R7650:Dennd4b	UTSW	3	90,176,056 (GRCm39)	nonsense	probably null
R8196:Dennd4b	UTSW	3	90,178,904 (GRCm39)	missense	probably damaging	1.00
R8208:Dennd4b	UTSW	3	90,178,278 (GRCm39)	missense	possibly damaging	0.78
R8444:Dennd4b	UTSW	3	90,181,259 (GRCm39)	missense	probably benign	0.27
R8502:Dennd4b	UTSW	3	90,181,165 (GRCm39)	missense	probably damaging	0.98
R8735:Dennd4b	UTSW	3	90,185,172 (GRCm39)	missense	probably damaging	1.00
R8933:Dennd4b	UTSW	3	90,186,523 (GRCm39)	missense	probably benign	0.05
R9031:Dennd4b	UTSW	3	90,178,188 (GRCm39)	missense	probably benign
R9335:Dennd4b	UTSW	3	90,175,611 (GRCm39)	missense	probably damaging	1.00
R9456:Dennd4b	UTSW	3	90,178,515 (GRCm39)	missense	probably damaging	1.00
R9747:Dennd4b	UTSW	3	90,177,828 (GRCm39)	missense	possibly damaging	0.76
X0024:Dennd4b	UTSW	3	90,178,278 (GRCm39)	missense	possibly damaging	0.78
Z1176:Dennd4b	UTSW	3	90,186,802 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGCCACTCAGCCAATCTGG -3'
(R):5'- CTAACATCGGTTTCTGGATTCATC -3'

Sequencing Primer
(F):5'- ACCTACCTCATGTATCGG -3'
(R):5'- ACATCGGTTTCTGGATTCATCTTCTC -3'

Posted On

2016-10-06