Mutagenetix > Incidental Mutations

Incidental Mutation 'R4134:Dennd2d'

314798

Institutional Source

Beutler Lab

Gene Symbol

Dennd2d

Ensembl Gene

ENSMUSG00000027901

Gene Name

DENN/MADD domain containing 2D

Synonyms

2010308M01Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4134 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

106482405-106503030 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106482661 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2 (D2E)

Ref Sequence

ENSEMBL: ENSMUSP00000029508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000149225] [ENSMUST00000183271]

Predicted Effect

probably benign
Transcript: ENSMUST00000029508
AA Change: D2E

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: D2E

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
uDENN	47	139	4.15e-27	SMART
DENN	146	330	8.1e-71	SMART
dDENN	368	435	3.38e-18	SMART
low complexity region	447	461	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139062

Predicted Effect

unknown
Transcript: ENSMUST00000149225
AA Change: D2E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164330

SMART Domains

Protein: ENSMUSP00000127168
Gene: ENSMUSG00000091575

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183271

SMART Domains

Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
uDENN	57	149	4.15e-27	SMART
DENN	156	340	8.1e-71	SMART
dDENN	378	445	3.38e-18	SMART
low complexity region	457	471	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193651

Meta Mutation Damage Score

0.0676

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ces1g	T	C	8: 93,319,872	T342A	probably benign	Het
Clip2	A	G	5: 134,492,253	V977A	probably benign	Het
Cnot11	T	C	1: 39,537,548	V211A	probably benign	Het
Dcaf12l1	T	C	X: 44,789,453	N156S	probably damaging	Het
F2	T	C	2: 91,629,208	D410G	possibly damaging	Het
Gabrb3	G	T	7: 57,591,288	A5S	probably benign	Het
Gcnt2	T	A	13: 40,887,807	N147K	probably damaging	Het
Greb1l	T	C	18: 10,529,708		probably null	Het
Gtdc1	A	G	2: 44,825,418	W38R	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hspg2	A	T	4: 137,556,657	Q3446L	probably damaging	Het
Htr5a	A	G	5: 27,842,692	M82V	probably benign	Het
Itgb4	G	T	11: 116,006,470	G1454V	probably benign	Het
Lrrc9	T	C	12: 72,466,966	S534P	probably benign	Het
Nkx6-1	T	A	5: 101,659,505	D337V	probably damaging	Het
Npm2	C	T	14: 70,648,382	E128K	possibly damaging	Het
Nyap2	A	G	1: 81,241,193	D310G	probably damaging	Het
Olfr168	T	A	16: 19,530,702	I73F	possibly damaging	Het
Olfr723	T	C	14: 49,928,815	H243R	probably damaging	Het
Pum1	A	T	4: 130,764,069	I770F	probably damaging	Het
Rreb1	A	T	13: 37,947,123	N1418Y	probably damaging	Het
Syt9	A	G	7: 107,436,423	S216G	probably benign	Het
Tep1	G	A	14: 50,844,860	H1120Y	probably benign	Het
Ttn	T	A	2: 76,884,794		probably benign	Het
Vmn1r8	A	G	6: 57,036,720	D252G	probably benign	Het
Vwa5b1	A	T	4: 138,594,330	M384K	possibly damaging	Het
Zfhx2	G	A	14: 55,065,143	P1795S	possibly damaging	Het
Zfhx4	T	C	3: 5,243,627	S638P	probably damaging	Het
Zfp677	A	G	17: 21,397,781	T367A	probably benign	Het
Zfp729a	C	A	13: 67,619,806	C768F	probably damaging	Het
Zfp810	T	C	9: 22,279,073	K180E	probably damaging	Het

Other mutations in Dennd2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Dennd2d	APN	3	106500545	missense	possibly damaging	0.45
IGL01397:Dennd2d	APN	3	106487049	critical splice donor site	probably null	0.00
IGL01410:Dennd2d	APN	3	106491226	missense	probably damaging	1.00
IGL02022:Dennd2d	APN	3	106499904	missense	probably benign	0.00
IGL02032:Dennd2d	APN	3	106491227	missense	probably damaging	1.00
IGL02309:Dennd2d	APN	3	106494968	missense	probably benign
R0140:Dennd2d	UTSW	3	106492483	missense	probably benign	0.08
R0648:Dennd2d	UTSW	3	106500555	missense	probably damaging	0.97
R1519:Dennd2d	UTSW	3	106492559	missense	probably damaging	1.00
R1539:Dennd2d	UTSW	3	106486920	missense	probably benign	0.00
R1652:Dennd2d	UTSW	3	106487001	missense	probably benign	0.00
R1674:Dennd2d	UTSW	3	106492517	missense	probably benign	0.17
R2179:Dennd2d	UTSW	3	106492460	missense	probably benign	0.00
R3731:Dennd2d	UTSW	3	106499955	missense	probably damaging	1.00
R4077:Dennd2d	UTSW	3	106482623	unclassified	probably benign
R4135:Dennd2d	UTSW	3	106482661	missense	probably benign	0.34
R5214:Dennd2d	UTSW	3	106486321	critical splice donor site	probably null
R5767:Dennd2d	UTSW	3	106487815	intron	probably benign
R6001:Dennd2d	UTSW	3	106492460	missense	probably benign	0.00
R6239:Dennd2d	UTSW	3	106494877	missense	probably damaging	1.00
R7312:Dennd2d	UTSW	3	106491263	missense	probably benign	0.38
R7593:Dennd2d	UTSW	3	106499928	missense	probably damaging	1.00
Z1088:Dennd2d	UTSW	3	106499874	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAATGAGATGGTACCGCC -3'
(R):5'- AGCAGATCTGTCCCCTTGTTG -3'

Sequencing Primer
(F):5'- AGATGGTACCGCCCCTCC -3'
(R):5'- GAGCTCACCTGCCTCCTG -3'

Posted On

2015-05-14