Mutagenetix > Incidental Mutation

Incidental Mutation 'R6183:Dennd4b'

487610

Institutional Source

Beutler Lab

Gene Symbol

Dennd4b

Ensembl Gene

ENSMUSG00000042404

Gene Name

DENN/MADD domain containing 4B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6183 (G1)

Quality Score

125.467

Status

Not validated

Chromosome

Chromosomal Location

90265185-90280669 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG to ACAGCAGCAGCAGCAGCAGCAGCAGCAG at 90275568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q3U1Y4

Predicted Effect

probably benign
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 benign
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 benign
Transcript: ENSMUST00000138376

SMART Domains

Protein: ENSMUSP00000116003
Gene: ENSMUSG00000042404

Domain	Start	End	E-Value	Type
coiled coil region	29	55	N/A	INTRINSIC
low complexity region	148	164	N/A	INTRINSIC
low complexity region	212	222	N/A	INTRINSIC
low complexity region	240	253	N/A	INTRINSIC
low complexity region	257	264	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143803

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	possibly damaging	Het

Other mutations in Dennd4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Dennd4b	APN	3	90271207	missense	possibly damaging	0.83
IGL00834:Dennd4b	APN	3	90279686	critical splice donor site	probably null
IGL01124:Dennd4b	APN	3	90269074	missense	possibly damaging	0.61
IGL01792:Dennd4b	APN	3	90279845	missense	probably damaging	0.96
IGL01895:Dennd4b	APN	3	90275567	missense	probably benign	0.00
IGL02533:Dennd4b	APN	3	90272310	missense	probably benign	0.02
IGL02630:Dennd4b	APN	3	90272977	missense	probably benign	0.00
R0107:Dennd4b	UTSW	3	90272736	missense	possibly damaging	0.92
R0143:Dennd4b	UTSW	3	90272364	missense	probably damaging	1.00
R1079:Dennd4b	UTSW	3	90271178	missense	probably benign
R1306:Dennd4b	UTSW	3	90271165	missense	probably benign	0.00
R1525:Dennd4b	UTSW	3	90270870	missense	probably damaging	0.97
R1756:Dennd4b	UTSW	3	90271605	missense	probably damaging	1.00
R1959:Dennd4b	UTSW	3	90268773	missense	probably damaging	1.00
R1976:Dennd4b	UTSW	3	90273055	missense	probably damaging	1.00
R2184:Dennd4b	UTSW	3	90275540	missense	probably damaging	1.00
R2296:Dennd4b	UTSW	3	90275514	missense	probably damaging	1.00
R2406:Dennd4b	UTSW	3	90275488	missense	probably damaging	1.00
R2408:Dennd4b	UTSW	3	90271575	nonsense	probably null
R4691:Dennd4b	UTSW	3	90272312	missense	probably damaging	1.00
R5376:Dennd4b	UTSW	3	90278056	missense	probably benign	0.00
R5466:Dennd4b	UTSW	3	90268500	splice site	probably null
R5555:Dennd4b	UTSW	3	90268368	missense	probably damaging	1.00
R5556:Dennd4b	UTSW	3	90268368	missense	probably damaging	1.00
R5557:Dennd4b	UTSW	3	90268368	missense	probably damaging	1.00
R5605:Dennd4b	UTSW	3	90268368	missense	probably damaging	1.00
R5617:Dennd4b	UTSW	3	90275626	missense	probably benign
R5692:Dennd4b	UTSW	3	90277783	missense	probably damaging	1.00
R5790:Dennd4b	UTSW	3	90277450	missense	probably damaging	1.00
R5957:Dennd4b	UTSW	3	90270965	missense	probably damaging	1.00
R6130:Dennd4b	UTSW	3	90276259	missense	probably damaging	1.00
R6505:Dennd4b	UTSW	3	90267611	missense	probably damaging	1.00
R6631:Dennd4b	UTSW	3	90277732	splice site	probably null
R6801:Dennd4b	UTSW	3	90268779	missense	probably damaging	0.98
R7409:Dennd4b	UTSW	3	90273952	missense	probably benign	0.15
R7457:Dennd4b	UTSW	3	90269315	missense	probably benign
R7650:Dennd4b	UTSW	3	90268749	nonsense	probably null
R8196:Dennd4b	UTSW	3	90271597	missense	probably damaging	1.00
R8208:Dennd4b	UTSW	3	90270971	missense	possibly damaging	0.78
R8444:Dennd4b	UTSW	3	90273952	missense	probably benign	0.27
R8502:Dennd4b	UTSW	3	90273858	missense	probably damaging	0.98
R8735:Dennd4b	UTSW	3	90277865	missense	probably damaging	1.00
R8933:Dennd4b	UTSW	3	90279216	missense	probably benign	0.05
R9031:Dennd4b	UTSW	3	90270881	missense	probably benign
R9335:Dennd4b	UTSW	3	90268304	missense	probably damaging	1.00
R9456:Dennd4b	UTSW	3	90271208	missense	probably damaging	1.00
R9747:Dennd4b	UTSW	3	90270521	missense	possibly damaging	0.76
X0024:Dennd4b	UTSW	3	90270971	missense	possibly damaging	0.78
Z1176:Dennd4b	UTSW	3	90279495	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGCAAAGGCATCACTAGGC -3'
(R):5'- AGAAAGGCCCCTACAGTTTCCC -3'

Sequencing Primer
(F):5'- GCATCACTAGGCCATCCTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2017-10-10