Mutagenetix > Incidental Mutation

Incidental Mutation 'R5790:Dennd4b'

448249

Institutional Source

Beutler Lab

Gene Symbol

Dennd4b

Ensembl Gene

ENSMUSG00000042404

Gene Name

DENN domain containing 4B

Synonyms

MMRRC Submission

043384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R5790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90172492-90187976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90184757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1118 (D1118E)

Ref Sequence

ENSEMBL: ENSMUSP00000117354 (fasta)

Gene Model

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

AlphaFold

Q3U1Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000098914
AA Change: D1129E

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

SMART Domains

Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: D1129E

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 damaging
Transcript: ENSMUST00000129564
AA Change: D1118E

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

SMART Domains

Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: D1118E

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

unknown
Transcript: ENSMUST00000138376
AA Change: D254E

SMART Domains

Protein: ENSMUSP00000116003
Gene: ENSMUSG00000042404
AA Change: D254E

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: 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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	T	5: 31,051,702 (GRCm39)	R633*	probably null	Het
Ahnak	T	C	19: 8,992,612 (GRCm39)	V4632A	probably damaging	Het
Asap1	T	A	15: 63,966,114 (GRCm39)	D997V	probably damaging	Het
Atad2	T	C	15: 57,989,990 (GRCm39)	Y162C	probably damaging	Het
Atp2b2	G	T	6: 113,736,270 (GRCm39)	S936R	probably damaging	Het
Bcl11a	T	A	11: 24,113,650 (GRCm39)	L331Q	probably damaging	Het
C6	T	A	15: 4,792,968 (GRCm39)	F358I	probably damaging	Het
Capn15	C	T	17: 26,183,521 (GRCm39)	S386N	probably benign	Het
Ccdc66	G	A	14: 27,222,404 (GRCm39)	T113I	possibly damaging	Het
Cd200	G	T	16: 45,217,621 (GRCm39)	H23Q	possibly damaging	Het
Cdh17	A	G	4: 11,814,945 (GRCm39)		probably null	Het
Ces2b	C	T	8: 105,560,568 (GRCm39)	P128S	probably damaging	Het
Ces3b	A	T	8: 105,819,270 (GRCm39)	Q442L	probably damaging	Het
Chil4	T	C	3: 106,109,894 (GRCm39)	H373R	probably benign	Het
Ciapin1	C	A	8: 95,551,811 (GRCm39)		probably benign	Het
Cnot10	A	C	9: 114,454,985 (GRCm39)		probably null	Het
Cpq	A	G	15: 33,250,143 (GRCm39)	K167E	probably damaging	Het
Dnah8	T	A	17: 31,093,978 (GRCm39)	C4691S	probably damaging	Het
Dnajc1	A	G	2: 18,311,898 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,304,981 (GRCm39)	R341H	probably damaging	Het
Dock10	G	T	1: 80,482,887 (GRCm39)	T2145K	probably benign	Het
Eif3b	T	C	5: 140,427,886 (GRCm39)	V736A	probably benign	Het
Eno1	G	T	4: 150,329,710 (GRCm39)	V195L	probably benign	Het
Ewsr1	C	T	11: 5,032,263 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,209,768 (GRCm39)	T1038A	probably benign	Het
Gabrb1	T	C	5: 72,293,827 (GRCm39)	I367T	possibly damaging	Het
Gigyf1	C	T	5: 137,522,517 (GRCm39)		probably benign	Het
Glp2r	T	A	11: 67,655,625 (GRCm39)	Y39F	probably damaging	Het
Gm10036	T	A	18: 15,966,243 (GRCm39)	Y131*	probably null	Het
Gm38706	T	C	6: 130,461,961 (GRCm39)		noncoding transcript	Het
Gna15	G	A	10: 81,345,218 (GRCm39)	R216C	probably damaging	Het
Grin3a	A	G	4: 49,792,717 (GRCm39)	F339L	probably damaging	Het
Grk3	T	G	5: 113,114,842 (GRCm39)	K126T	possibly damaging	Het
Hspa1l	T	C	17: 35,196,216 (GRCm39)	V85A	probably benign	Het
Iqsec1	A	T	6: 90,666,862 (GRCm39)	L525*	probably null	Het
Irx3	T	C	8: 92,526,304 (GRCm39)	T467A	probably benign	Het
Itga2	G	A	13: 115,004,742 (GRCm39)	T530I	probably benign	Het
Lonp2	T	C	8: 87,358,118 (GRCm39)	V113A	probably benign	Het
Msx3	C	T	7: 139,628,866 (GRCm39)	R16H	possibly damaging	Het
Nek3	C	A	8: 22,621,313 (GRCm39)	Q405H	probably damaging	Het
Nek3	T	A	8: 22,621,314 (GRCm39)	Q403L	probably damaging	Het
Or2b6	T	C	13: 21,823,046 (GRCm39)	T216A	probably benign	Het
Or6c66	A	G	10: 129,461,757 (GRCm39)	Y58H	probably damaging	Het
P4ha1	A	G	10: 59,190,184 (GRCm39)	N367S	probably benign	Het
Padi6	C	A	4: 140,459,569 (GRCm39)	G429C	probably damaging	Het
Pidd1	T	C	7: 141,021,305 (GRCm39)		probably benign	Het
Plekhg5	T	C	4: 152,198,392 (GRCm39)	V847A	probably benign	Het
Polr3e	A	G	7: 120,527,190 (GRCm39)	D56G	probably damaging	Het
Pomt2	T	G	12: 87,174,152 (GRCm39)	N347T	probably damaging	Het
Ppp1r9a	T	C	6: 5,134,363 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,296 (GRCm39)	D184V	probably damaging	Het
Rims2	A	T	15: 39,544,441 (GRCm39)	T1431S	probably damaging	Het
Saal1	T	C	7: 46,351,352 (GRCm39)	D208G	probably damaging	Het
Sis	T	C	3: 72,835,507 (GRCm39)	I952V	probably benign	Het
Slc30a1	T	A	1: 191,640,997 (GRCm39)	D214E	probably benign	Het
Slc30a8	T	C	15: 52,197,043 (GRCm39)	V318A	possibly damaging	Het
Smarca2	A	G	19: 26,654,124 (GRCm39)	T770A	probably damaging	Het
Sptbn4	T	A	7: 27,065,853 (GRCm39)	H2031L	probably damaging	Het
Ssbp1	A	G	6: 40,457,804 (GRCm39)	S141G	probably benign	Het
Tgm4	A	G	9: 122,890,808 (GRCm39)	E45G	probably damaging	Het
Thra	T	A	11: 98,653,777 (GRCm39)	S203T	probably benign	Het
Tle2	T	C	10: 81,426,149 (GRCm39)	Y763H	probably damaging	Het
Tmem141	T	A	2: 25,511,087 (GRCm39)	I102L	probably benign	Het
Tmem63c	C	T	12: 87,104,410 (GRCm39)	T77I	probably benign	Het
Tspo2	C	A	17: 48,756,047 (GRCm39)		probably null	Het
Ttc19	T	A	11: 62,172,340 (GRCm39)	M1K	probably null	Het
Ucp1	A	G	8: 84,024,520 (GRCm39)	N282D	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,198 (GRCm39)	F119I	probably benign	Het
Vmn2r24	A	T	6: 123,792,499 (GRCm39)	M609L	probably benign	Het
Vwc2l	A	T	1: 70,790,142 (GRCm39)	H146L	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
R5466:Dennd4b	UTSW	3	90,175,807 (GRCm39)	splice site	probably null
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
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'- TGCTTCTGAGGTAGCCAGTTAAG -3'
(R):5'- TGGGTTCCAATGCCCCAAAG -3'

Sequencing Primer
(F):5'- CTTCTGAGGTAGCCAGTTAAGAGAGG -3'
(R):5'- ACTCCAGCCAGGCCTACTTC -3'

Posted On

2016-12-15