Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02309:Dennd2d'

287751

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd2d

Ensembl Gene

ENSMUSG00000027901

Gene Name

DENN domain containing 2D

Synonyms

2010308M01Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02309

Quality Score

Status

Chromosome

Chromosomal Location

106389745-106410346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106402284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 318 (M318K)

Ref Sequence

ENSEMBL: ENSMUSP00000138462 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029508
AA Change: M308K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: M308K

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

probably benign
Transcript: ENSMUST00000183271
AA Change: M318K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: M318K

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: ENSMUST00000195305

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,193,125 (GRCm39)	F111S	probably benign	Het
Afg1l	C	A	10: 42,330,374 (GRCm39)	V98F	possibly damaging	Het
Agk	T	A	6: 40,353,210 (GRCm39)	D191E	possibly damaging	Het
Akap5	A	G	12: 76,375,629 (GRCm39)	K354E	possibly damaging	Het
Aplp2	A	T	9: 31,078,979 (GRCm39)	M323K	possibly damaging	Het
Arhgap23	T	C	11: 97,356,827 (GRCm39)		probably benign	Het
Asl	A	G	5: 130,048,622 (GRCm39)	Y30H	probably damaging	Het
Asxl3	T	A	18: 22,655,510 (GRCm39)	H1173Q	probably benign	Het
Celsr2	C	T	3: 108,303,327 (GRCm39)	R2472H	probably damaging	Het
Clip1	T	A	5: 123,755,763 (GRCm39)	H950L	probably damaging	Het
Cx3cl1	A	T	8: 95,506,660 (GRCm39)	T222S	probably benign	Het
Cyp4a14	T	A	4: 115,348,829 (GRCm39)	N273Y	probably damaging	Het
Ddx52	T	A	11: 83,839,304 (GRCm39)	S214T	probably damaging	Het
Dock3	A	T	9: 106,790,351 (GRCm39)	D1E	probably damaging	Het
Farp1	C	T	14: 121,480,928 (GRCm39)	T443I	probably benign	Het
Gm2381	C	T	7: 42,472,033 (GRCm39)		probably benign	Het
Gpr87	T	A	3: 59,086,975 (GRCm39)	I178F	possibly damaging	Het
Grin2b	C	T	6: 135,713,470 (GRCm39)	E804K	probably damaging	Het
Gtf2h1	T	C	7: 46,465,812 (GRCm39)	L421P	probably damaging	Het
Haghl	T	G	17: 26,003,638 (GRCm39)	H56P	probably damaging	Het
Heatr3	T	C	8: 88,893,700 (GRCm39)	L489P	probably damaging	Het
Ighv6-6	A	T	12: 114,398,534 (GRCm39)	H77Q	probably benign	Het
Kdm2b	A	G	5: 123,085,883 (GRCm39)	S243P	probably damaging	Het
Lamc3	T	C	2: 31,804,616 (GRCm39)		probably benign	Het
Lgr4	T	C	2: 109,842,880 (GRCm39)		probably benign	Het
Lhx3	T	C	2: 26,091,385 (GRCm39)	Q308R	probably benign	Het
Lonp2	G	A	8: 87,361,491 (GRCm39)	E223K	probably damaging	Het
Lta4h	T	C	10: 93,310,352 (GRCm39)	F407L	probably damaging	Het
Mndal	C	T	1: 173,702,021 (GRCm39)	G94R	probably damaging	Het
Nrxn3	A	G	12: 89,943,175 (GRCm39)	N101S	probably damaging	Het
Or14c41	T	C	7: 86,234,705 (GRCm39)	V74A	possibly damaging	Het
Or51af1	A	T	7: 103,141,206 (GRCm39)	I293K	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Or8b48	A	G	9: 38,492,729 (GRCm39)	N52S	probably damaging	Het
Or8d23	A	G	9: 38,842,348 (GRCm39)	N294D	probably damaging	Het
Pknox1	T	G	17: 31,809,683 (GRCm39)	F96V	probably benign	Het
Psg25	T	G	7: 18,260,349 (GRCm39)	Q183P	probably damaging	Het
Ptgs2	A	G	1: 149,981,307 (GRCm39)	Y530C	probably damaging	Het
Sema3e	T	A	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Shank1	G	A	7: 43,962,266 (GRCm39)	G46R	unknown	Het
Sidt1	T	C	16: 44,075,343 (GRCm39)	I672V	probably benign	Het
Skic3	A	G	13: 76,275,166 (GRCm39)	T238A	possibly damaging	Het
Slco1b2	T	A	6: 141,618,007 (GRCm39)	S486T	probably damaging	Het
Smchd1	T	C	17: 71,750,898 (GRCm39)	H340R	probably benign	Het
Smoc2	C	A	17: 14,595,789 (GRCm39)		probably benign	Het
Snapc1	A	G	12: 74,014,801 (GRCm39)	Y102C	probably damaging	Het
Spo11	A	G	2: 172,821,744 (GRCm39)	R20G	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Tmem229b-ps	T	C	10: 53,351,466 (GRCm39)		noncoding transcript	Het
Trim12c	T	A	7: 103,994,163 (GRCm39)	E230D	possibly damaging	Het
Ttc17	G	T	2: 94,173,006 (GRCm39)	N796K	probably benign	Het
Ttn	A	G	2: 76,709,443 (GRCm39)		probably benign	Het
Ublcp1	A	T	11: 44,349,155 (GRCm39)		probably benign	Het
Usf3	C	T	16: 44,021,026 (GRCm39)	T11M	probably benign	Het
Vmn2r115	T	A	17: 23,564,113 (GRCm39)	M95K	probably benign	Het
Wapl	A	G	14: 34,466,820 (GRCm39)	T1160A	probably damaging	Het

Other mutations in Dennd2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Dennd2d	APN	3	106,407,861 (GRCm39)	missense	possibly damaging	0.45
IGL01397:Dennd2d	APN	3	106,394,365 (GRCm39)	critical splice donor site	probably null	0.00
IGL01410:Dennd2d	APN	3	106,398,542 (GRCm39)	missense	probably damaging	1.00
IGL02022:Dennd2d	APN	3	106,407,220 (GRCm39)	missense	probably benign	0.00
IGL02032:Dennd2d	APN	3	106,398,543 (GRCm39)	missense	probably damaging	1.00
R0140:Dennd2d	UTSW	3	106,399,799 (GRCm39)	missense	probably benign	0.08
R0648:Dennd2d	UTSW	3	106,407,871 (GRCm39)	missense	probably damaging	0.97
R1519:Dennd2d	UTSW	3	106,399,875 (GRCm39)	missense	probably damaging	1.00
R1539:Dennd2d	UTSW	3	106,394,236 (GRCm39)	missense	probably benign	0.00
R1652:Dennd2d	UTSW	3	106,394,317 (GRCm39)	missense	probably benign	0.00
R1674:Dennd2d	UTSW	3	106,399,833 (GRCm39)	missense	probably benign	0.17
R2179:Dennd2d	UTSW	3	106,399,776 (GRCm39)	missense	probably benign	0.00
R3731:Dennd2d	UTSW	3	106,407,271 (GRCm39)	missense	probably damaging	1.00
R4077:Dennd2d	UTSW	3	106,389,939 (GRCm39)	unclassified	probably benign
R4134:Dennd2d	UTSW	3	106,389,977 (GRCm39)	missense	probably benign	0.34
R4135:Dennd2d	UTSW	3	106,389,977 (GRCm39)	missense	probably benign	0.34
R5214:Dennd2d	UTSW	3	106,393,637 (GRCm39)	critical splice donor site	probably null
R5767:Dennd2d	UTSW	3	106,395,131 (GRCm39)	intron	probably benign
R6001:Dennd2d	UTSW	3	106,399,776 (GRCm39)	missense	probably benign	0.00
R6239:Dennd2d	UTSW	3	106,402,193 (GRCm39)	missense	probably damaging	1.00
R7312:Dennd2d	UTSW	3	106,398,579 (GRCm39)	missense	probably benign	0.38
R7593:Dennd2d	UTSW	3	106,407,244 (GRCm39)	missense	probably damaging	1.00
R8841:Dennd2d	UTSW	3	106,393,580 (GRCm39)	missense	probably benign
R9103:Dennd2d	UTSW	3	106,397,684 (GRCm39)	missense
R9341:Dennd2d	UTSW	3	106,397,730 (GRCm39)	critical splice donor site	probably null
R9343:Dennd2d	UTSW	3	106,397,730 (GRCm39)	critical splice donor site	probably null
R9388:Dennd2d	UTSW	3	106,395,915 (GRCm39)	missense	possibly damaging	0.93
Z1088:Dennd2d	UTSW	3	106,407,190 (GRCm39)	nonsense	probably null

Posted On

2015-04-16