Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Dbn1'

332878

Institutional Source

Beutler Lab

Gene Symbol

Dbn1

Ensembl Gene

ENSMUSG00000034675

Gene Name

drebrin 1

Synonyms

drebrin E2, drebrin A

MMRRC Submission

041589-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R4515 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

55621242-55635924 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55624042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 350 (I350N)

Ref Sequence

ENSEMBL: ENSMUSP00000105549 (fasta)

Gene Model

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

AlphaFold

Q9QXS6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021950
AA Change: I396N

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: I396N

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

possibly damaging
Transcript: ENSMUST00000109921
AA Change: I350N

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: I350N

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

possibly damaging
Transcript: ENSMUST00000109923
AA Change: I350N

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: I350N

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

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,646,006 (GRCm39)	K630N	probably damaging	Het
Acss2	C	A	2: 155,398,283 (GRCm39)	L335I	probably benign	Het
Alg6	A	T	4: 99,641,023 (GRCm39)		probably benign	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Bsn	G	T	9: 107,981,277 (GRCm39)		probably null	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,870,150 (GRCm39)	E52K	probably benign	Het
Ces1a	T	A	8: 93,747,532 (GRCm39)	N500Y	probably damaging	Het
Chd3	G	T	11: 69,240,703 (GRCm39)	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,875,118 (GRCm39)	L39P	probably damaging	Het
Ckm	A	G	7: 19,154,209 (GRCm39)	K319E	probably damaging	Het
Cnot6	C	T	11: 49,593,363 (GRCm39)		probably null	Het
Copg1	A	G	6: 87,884,528 (GRCm39)		probably benign	Het
Dnah2	A	G	11: 69,356,457 (GRCm39)	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,734,444 (GRCm39)	D807E	probably benign	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Hemgn	T	C	4: 46,396,477 (GRCm39)	E253G	probably damaging	Het
Itsn1	G	A	16: 91,696,537 (GRCm39)	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257 (GRCm39)	V947A	probably benign	Het
Kif9	A	G	9: 110,318,935 (GRCm39)	H133R	probably benign	Het
Lce1l	T	C	3: 92,757,781 (GRCm39)	T26A	unknown	Het
Macf1	T	C	4: 123,387,781 (GRCm39)	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,921,281 (GRCm39)	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,454,187 (GRCm39)	T49I	probably benign	Het
Oc90	A	G	15: 65,764,242 (GRCm39)	L138P	probably damaging	Het
Or7g12	T	G	9: 18,899,278 (GRCm39)		probably null	Het
Or8g34	C	T	9: 39,373,527 (GRCm39)	R264*	probably null	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Paqr3	T	A	5: 97,251,220 (GRCm39)	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,224,432 (GRCm39)	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,006,207 (GRCm39)	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,549,924 (GRCm39)	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Prkch	A	G	12: 73,749,612 (GRCm39)	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,271,860 (GRCm39)	R253L	probably damaging	Het
Rabac1	A	T	7: 24,669,585 (GRCm39)	Y173*	probably null	Het
Rapsn	G	A	2: 90,873,557 (GRCm39)	V288M	possibly damaging	Het
Rnf26rt	C	T	6: 76,473,792 (GRCm39)	V275I	probably benign	Het
Sec31a	A	G	5: 100,513,817 (GRCm39)	S993P	probably damaging	Het
Septin4	A	G	11: 87,458,883 (GRCm39)	H419R	probably benign	Het
Serpina9	T	A	12: 103,967,553 (GRCm39)	M281L	probably benign	Het
Serpine1	G	A	5: 137,098,322 (GRCm39)	A117V	probably damaging	Het
Sh3tc2	A	G	18: 62,120,764 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,218,965 (GRCm39)	D124G	probably benign	Het
Slc6a12	T	A	6: 121,330,489 (GRCm39)		probably null	Het
Stk11	A	G	10: 79,952,435 (GRCm39)		probably benign	Het
Tcaf3	A	G	6: 42,566,930 (GRCm39)	Y720H	probably damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,568,055 (GRCm39)	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,754,244 (GRCm39)	S988N	probably benign	Het
Txn2	A	T	15: 77,799,643 (GRCm39)		probably null	Het
Ugt1a10	T	A	1: 87,983,919 (GRCm39)	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,901,475 (GRCm39)	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	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
R0318:Dbn1	UTSW	13	55,622,729 (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
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

PCR Primer
(F):5'- GGATTGGTCCAAGTTCTTTGAACTATG -3'
(R):5'- TTTGTCCCCAGAGCAGGTAC -3'

Sequencing Primer
(F):5'- GAACTATGTTACTGTGGCAACCTAGG -3'
(R):5'- TCTGGAGCAGCAATCTGGC -3'

Posted On

2015-08-18