Mutagenetix > Incidental Mutation

Incidental Mutation 'R0319:Dbn1'

65272

Institutional Source

Beutler Lab

Gene Symbol

Dbn1

Ensembl Gene

ENSMUSG00000034675

Gene Name

drebrin 1

Synonyms

drebrin E2, drebrin A

MMRRC Submission

038529-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R0319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55621242-55635924 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55622729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 585 (E585K)

Ref Sequence

ENSEMBL: ENSMUSP00000105549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021950] [ENSMUST00000046533] [ENSMUST00000109921] [ENSMUST00000109923]

AlphaFold

Q9QXS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021950
AA Change: E631K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: E631K

Domain	Start	End	E-Value	Type
ADF	8	134	2.34e-25	SMART
coiled coil region	176	256	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	331	346	N/A	INTRINSIC
low complexity region	453	473	N/A	INTRINSIC
low complexity region	477	498	N/A	INTRINSIC
low complexity region	502	518	N/A	INTRINSIC
low complexity region	619	637	N/A	INTRINSIC
low complexity region	655	668	N/A	INTRINSIC
low complexity region	697	705	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000046533

SMART Domains

Protein: ENSMUSP00000046776
Gene: ENSMUSG00000034686

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
low complexity region	63	131	N/A	INTRINSIC
low complexity region	211	228	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109921
AA Change: E585K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: E585K

Domain	Start	End	E-Value	Type
ADF	8	134	2.34e-25	SMART
coiled coil region	176	256	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	407	427	N/A	INTRINSIC
low complexity region	431	452	N/A	INTRINSIC
low complexity region	456	472	N/A	INTRINSIC
low complexity region	573	591	N/A	INTRINSIC
low complexity region	610	623	N/A	INTRINSIC
low complexity region	652	660	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109923
AA Change: E585K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: E585K

Domain	Start	End	E-Value	Type
ADF	8	134	2.34e-25	SMART
coiled coil region	176	256	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	407	427	N/A	INTRINSIC
low complexity region	431	452	N/A	INTRINSIC
low complexity region	456	472	N/A	INTRINSIC
low complexity region	573	591	N/A	INTRINSIC
low complexity region	609	622	N/A	INTRINSIC
low complexity region	651	659	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183653

Meta Mutation Damage Score

0.0786

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired cued conditioning behavior. Mice homozygous for a different knock-out allele show altered neurotransmitter receptor levels in protein complexes, abnormal dendritic spine morphology, and impaired synaptic plasticity in the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	C	7: 127,836,362 (GRCm39)	V77G	probably benign	Het
Abcb1b	A	G	5: 8,877,428 (GRCm39)	R663G	probably benign	Het
Acly	A	G	11: 100,395,808 (GRCm39)	V404A	probably damaging	Het
Actg2	T	A	6: 83,497,725 (GRCm39)	I103F	probably damaging	Het
Anapc5	A	G	5: 122,956,919 (GRCm39)	V120A	probably damaging	Het
Ankk1	T	G	9: 49,327,371 (GRCm39)	T603P	probably damaging	Het
Ankmy2	T	C	12: 36,215,898 (GRCm39)	S33P	possibly damaging	Het
Arhgef19	A	T	4: 140,983,710 (GRCm39)	T748S	possibly damaging	Het
Atad5	T	A	11: 80,011,616 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,249,483 (GRCm39)	L105P	probably damaging	Het
Cacna1s	T	C	1: 135,998,455 (GRCm39)	V161A	probably damaging	Het
Col6a3	T	C	1: 90,735,426 (GRCm39)	E741G	possibly damaging	Het
Cpne9	G	A	6: 113,271,654 (GRCm39)	G338E	probably damaging	Het
Cyp3a13	G	A	5: 137,897,124 (GRCm39)	P397S	probably damaging	Het
Draxin	A	G	4: 148,200,429 (GRCm39)	L7P	probably benign	Het
Exosc7	T	A	9: 122,960,025 (GRCm39)		probably benign	Het
Far2	A	G	6: 148,058,968 (GRCm39)	E218G	probably damaging	Het
Ggps1	A	C	13: 14,228,462 (GRCm39)	N240K	possibly damaging	Het
Kcnip1	T	C	11: 33,601,529 (GRCm39)		probably benign	Het
Kcnv2	A	T	19: 27,301,424 (GRCm39)	Y425F	probably benign	Het
Kdelr2	T	A	5: 143,398,272 (GRCm39)	F40I	probably damaging	Het
Kdm1b	C	T	13: 47,207,195 (GRCm39)	P173L	probably benign	Het
Kif20b	G	A	19: 34,925,132 (GRCm39)		probably benign	Het
Klhl9	A	T	4: 88,638,691 (GRCm39)	Y517N	possibly damaging	Het
Lgals3bp	A	G	11: 118,284,347 (GRCm39)	S411P	probably damaging	Het
Lmo3	G	A	6: 138,354,309 (GRCm39)	T85M	probably damaging	Het
Lvrn	C	A	18: 46,997,820 (GRCm39)	T256N	probably damaging	Het
Malt1	T	C	18: 65,595,986 (GRCm39)		probably null	Het
Mgst1	A	G	6: 138,133,155 (GRCm39)	I157V	possibly damaging	Het
Mob3a	A	T	10: 80,525,819 (GRCm39)	V164E	possibly damaging	Het
Mprip	T	A	11: 59,587,864 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,959,712 (GRCm39)	N276S	probably benign	Het
Or5an1b	A	T	19: 12,299,680 (GRCm39)	C170*	probably null	Het
P3h2	T	A	16: 25,789,681 (GRCm39)	I529F	possibly damaging	Het
Pikfyve	T	A	1: 65,285,490 (GRCm39)	S865T	probably benign	Het
Rcbtb2	G	A	14: 73,415,909 (GRCm39)	R474Q	probably benign	Het
Rpl27	G	A	11: 101,334,321 (GRCm39)		probably benign	Het
Rtp1	G	A	16: 23,250,210 (GRCm39)	E192K	probably damaging	Het
Sgk2	T	C	2: 162,837,592 (GRCm39)		probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc49a4	T	C	16: 35,570,884 (GRCm39)	D140G	probably benign	Het
Spdl1	T	C	11: 34,714,347 (GRCm39)	N114S	possibly damaging	Het
Syne2	C	T	12: 76,110,936 (GRCm39)	R5756W	probably damaging	Het
Tor1aip1	T	C	1: 155,882,927 (GRCm39)	E307G	probably damaging	Het
Tpd52	T	C	3: 9,018,749 (GRCm39)	T44A	probably benign	Het
Trim67	A	T	8: 125,549,966 (GRCm39)	Y532F	probably damaging	Het
Ttll9	C	A	2: 152,842,018 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,680,571 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,909,709 (GRCm39)	I539M	probably benign	Het
Vmn1r19	T	A	6: 57,381,600 (GRCm39)	M51K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,941 (GRCm39)	M787K	probably damaging	Het
Xdh	T	A	17: 74,213,096 (GRCm39)		probably benign	Het
Zfp109	A	T	7: 23,933,895 (GRCm39)	V8E	probably damaging	Het
Zfp595	G	A	13: 67,464,577 (GRCm39)	A562V	possibly damaging	Het
Zfp759	A	G	13: 67,288,356 (GRCm39)	T636A	probably benign	Het

Other mutations in Dbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Dbn1	APN	13	55,630,002 (GRCm39)	missense	probably damaging	1.00
IGL01408:Dbn1	APN	13	55,630,117 (GRCm39)	splice site	probably benign
IGL02123:Dbn1	APN	13	55,624,553 (GRCm39)	missense	possibly damaging	0.82
R0026:Dbn1	UTSW	13	55,625,597 (GRCm39)	missense	probably damaging	1.00
R0318:Dbn1	UTSW	13	55,622,729 (GRCm39)	missense	probably damaging	1.00
R0400:Dbn1	UTSW	13	55,622,729 (GRCm39)	missense	probably damaging	1.00
R0417:Dbn1	UTSW	13	55,622,729 (GRCm39)	missense	probably damaging	1.00
R0765:Dbn1	UTSW	13	55,630,107 (GRCm39)	missense	probably damaging	1.00
R0905:Dbn1	UTSW	13	55,622,040 (GRCm39)	unclassified	probably benign
R1695:Dbn1	UTSW	13	55,624,521 (GRCm39)	missense	probably benign	0.01
R1844:Dbn1	UTSW	13	55,629,160 (GRCm39)	critical splice donor site	probably null
R1997:Dbn1	UTSW	13	55,630,254 (GRCm39)	missense	probably damaging	1.00
R2912:Dbn1	UTSW	13	55,630,234 (GRCm39)	missense	probably damaging	0.97
R2914:Dbn1	UTSW	13	55,630,234 (GRCm39)	missense	probably damaging	0.97
R4398:Dbn1	UTSW	13	55,623,194 (GRCm39)	missense	probably benign	0.05
R4477:Dbn1	UTSW	13	55,629,374 (GRCm39)	small deletion	probably benign
R4515:Dbn1	UTSW	13	55,624,042 (GRCm39)	missense	possibly damaging	0.64
R4518:Dbn1	UTSW	13	55,624,042 (GRCm39)	missense	possibly damaging	0.64
R4519:Dbn1	UTSW	13	55,624,042 (GRCm39)	missense	possibly damaging	0.64
R4678:Dbn1	UTSW	13	55,623,071 (GRCm39)	missense	probably benign
R4886:Dbn1	UTSW	13	55,625,355 (GRCm39)	unclassified	probably benign
R6272:Dbn1	UTSW	13	55,622,917 (GRCm39)	missense	probably benign	0.00
R6741:Dbn1	UTSW	13	55,629,350 (GRCm39)	critical splice donor site	probably null
R7840:Dbn1	UTSW	13	55,623,322 (GRCm39)	missense	possibly damaging	0.94
R8339:Dbn1	UTSW	13	55,629,982 (GRCm39)	missense	probably benign	0.43
R9329:Dbn1	UTSW	13	55,631,241 (GRCm39)	missense	probably damaging	1.00
R9386:Dbn1	UTSW	13	55,629,760 (GRCm39)	missense	probably damaging	0.99
R9388:Dbn1	UTSW	13	55,624,088 (GRCm39)	missense	probably benign	0.02
R9588:Dbn1	UTSW	13	55,622,785 (GRCm39)	missense	probably benign
R9741:Dbn1	UTSW	13	55,624,114 (GRCm39)	missense	possibly damaging	0.95
R9762:Dbn1	UTSW	13	55,622,824 (GRCm39)	missense	probably damaging	0.99
R9777:Dbn1	UTSW	13	55,625,639 (GRCm39)	missense	probably benign	0.17

Predicted Primers

Posted On

2013-08-08