Mutagenetix > Incidental Mutation

Incidental Mutation 'R0318:Dbn1'

65265

Institutional Source

Beutler Lab

Gene Symbol

Dbn1

Ensembl Gene

ENSMUSG00000034675

Gene Name

drebrin 1

Synonyms

drebrin E2, drebrin A

MMRRC Submission

038528-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R0318 (G1)

Quality Score

225

Status

Not 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: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,370 (GRCm39)	L79Q	probably damaging	Het
Add1	T	C	5: 34,782,684 (GRCm39)	V130A	probably damaging	Het
Ankrd23	G	T	1: 36,573,153 (GRCm39)	T73K	probably benign	Het
Blk	A	G	14: 63,611,646 (GRCm39)	Y430H	probably damaging	Het
C3	C	T	17: 57,531,709 (GRCm39)	V272M	probably damaging	Het
Cerk	C	T	15: 86,035,766 (GRCm39)	A254T	possibly damaging	Het
Ces2a	G	A	8: 105,467,456 (GRCm39)	A494T	probably damaging	Het
Cfap46	T	C	7: 139,234,482 (GRCm39)	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,369,227 (GRCm39)	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446 (GRCm39)	N208S	possibly damaging	Het
Coro7	T	A	16: 4,493,671 (GRCm39)	H63L	probably benign	Het
Cps1	T	A	1: 67,216,173 (GRCm39)	W833R	probably damaging	Het
Csmd3	A	T	15: 47,522,549 (GRCm39)	W2707R	probably damaging	Het
Ddx50	A	T	10: 62,478,616 (GRCm39)	I190K	probably damaging	Het
Dnmt3l	G	A	10: 77,890,889 (GRCm39)	V264M	probably damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Fam163a	A	G	1: 155,955,715 (GRCm39)	C26R	probably damaging	Het
Fam83h	A	G	15: 75,875,478 (GRCm39)	S620P	probably benign	Het
Fcna	A	G	2: 25,515,071 (GRCm39)	S263P	probably benign	Het
Fnip2	A	T	3: 79,419,685 (GRCm39)	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,410 (GRCm39)	T244A	probably benign	Het
Gpr152	T	C	19: 4,193,541 (GRCm39)	S361P	possibly damaging	Het
Grm5	A	T	7: 87,252,175 (GRCm39)	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,226,230 (GRCm39)	S229P	probably benign	Het
Htr7	C	T	19: 35,946,886 (GRCm39)	G376D	probably damaging	Het
Irgc	T	C	7: 24,131,896 (GRCm39)	D307G	probably benign	Het
Irs1	A	T	1: 82,266,381 (GRCm39)	S612T	probably benign	Het
Maml2	C	T	9: 13,531,890 (GRCm39)	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,025,072 (GRCm39)	V64A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Nptx1	C	T	11: 119,433,367 (GRCm39)	E411K	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak25	C	A	2: 85,268,581 (GRCm39)	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,389,590 (GRCm39)	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,372,712 (GRCm39)	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,795,907 (GRCm39)	T679A	probably damaging	Het
Sipa1l2	G	A	8: 126,174,436 (GRCm39)	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,064,316 (GRCm39)	M222V	probably benign	Het
Smg9	T	C	7: 24,120,313 (GRCm39)	F429S	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorl1	T	A	9: 41,993,250 (GRCm39)	Y258F	probably damaging	Het
Srp72	C	T	5: 77,132,047 (GRCm39)	T242I	probably benign	Het
Stc1	A	T	14: 69,275,867 (GRCm39)	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,688,795 (GRCm39)	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 126,798,206 (GRCm39)	L645P	probably damaging	Het
Thoc2l	T	C	5: 104,665,619 (GRCm39)	F47S	probably benign	Het
Timd4	T	A	11: 46,727,898 (GRCm39)	H272Q	probably benign	Het
Ttll5	T	G	12: 85,923,368 (GRCm39)		probably null	Het
Veph1	G	T	3: 65,964,680 (GRCm39)	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 21,067,078 (GRCm39)	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,685,219 (GRCm39)	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,675,788 (GRCm39)	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,323,055 (GRCm39)	R897H	probably damaging	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
R0319: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