Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00902:Dbnl'

28487

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dbnl

Ensembl Gene

ENSMUSG00000020476

Gene Name

drebrin-like

Synonyms

mAbp1, ABP1, SH3P7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

IGL00902

Quality Score

Status

Chromosome

Chromosomal Location

5788488-5800962 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5798105 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 313 (A313S)

Ref Sequence

ENSEMBL: ENSMUSP00000105471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020768] [ENSMUST00000020769] [ENSMUST00000102928] [ENSMUST00000109845]

Predicted Effect

probably benign
Transcript: ENSMUST00000020768

SMART Domains

Protein: ENSMUSP00000020768
Gene: ENSMUSG00000020475

Domain	Start	End	E-Value	Type
PGAM	5	193	8.71e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020769
AA Change: A317S

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

SMART Domains

Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476
AA Change: A317S

Domain	Start	End	E-Value	Type
ADF	7	133	2.39e-31	SMART
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
SH3	380	436	1.62e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102928
AA Change: A314S

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

SMART Domains

Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476
AA Change: A314S

Domain	Start	End	E-Value	Type
ADF	7	133	2.39e-31	SMART
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC
SH3	377	433	1.62e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109845
AA Change: A313S

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

SMART Domains

Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476
AA Change: A313S

Domain	Start	End	E-Value	Type
ADF	7	133	2.39e-31	SMART
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
SH3	376	432	1.62e-16	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Targeted mutation causes abnormal structure and function in organs including the spleen, heart and lungs. Vesicle transport is impaired in the brain and neurological impairment is observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,041,345	G1001D	probably damaging	Het
Adamts7	T	G	9: 90,188,794		probably null	Het
Akap11	A	G	14: 78,495,838	S1876P	probably benign	Het
Capn10	A	G	1: 92,942,559	I256V	probably benign	Het
Catsperg2	T	A	7: 29,701,143	H262L	possibly damaging	Het
Col22a1	C	A	15: 71,964,659	G509V	probably damaging	Het
Dab2ip	T	C	2: 35,717,112	F523S	probably damaging	Het
Ddo	T	C	10: 40,647,554	V180A	probably damaging	Het
Enox1	A	G	14: 77,582,404	M200V	possibly damaging	Het
Fabp6	G	A	11: 43,598,716	R33C	probably damaging	Het
Gm9104	T	C	17: 45,466,014		probably benign	Het
Gspt1	C	T	16: 11,232,579	V303I	probably damaging	Het
Igf2r	C	T	17: 12,700,358	C1469Y	probably damaging	Het
Igflr1	T	C	7: 30,567,275	S183P	possibly damaging	Het
Itga6	T	C	2: 71,849,394	V1001A	probably benign	Het
Itih1	G	A	14: 30,932,482		probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lrp5	T	C	19: 3,600,774	N1220S	probably damaging	Het
March6	A	G	15: 31,484,978	Y434H	probably damaging	Het
Mbd1	A	G	18: 74,275,239	Y211C	possibly damaging	Het
Mpeg1	C	A	19: 12,461,769	A197D	probably damaging	Het
Mroh2b	T	A	15: 4,915,222	L435Q	probably damaging	Het
Mss51	A	C	14: 20,486,167	M160R	probably damaging	Het
Ndufs7	T	G	10: 80,256,005	Y190*	probably null	Het
Olfr1015	T	C	2: 85,786,117	M202T	probably benign	Het
Olfr768	T	A	10: 129,093,396	I193L	probably benign	Het
Pcdh17	A	G	14: 84,446,849	E252G	probably damaging	Het
Ric1	T	C	19: 29,567,231	V151A	probably benign	Het
Sgo2a	A	G	1: 58,016,099	T481A	probably benign	Het
Slc5a8	A	G	10: 88,919,461	T477A	probably benign	Het
Smg5	G	A	3: 88,353,085	V661I	probably benign	Het
Snx19	A	T	9: 30,428,732	I389F	possibly damaging	Het
Spem1	A	T	11: 69,821,817	I64N	probably damaging	Het
Ssfa2	G	A	2: 79,660,478	R980Q	probably damaging	Het
Thada	A	T	17: 84,447,976	M262K	probably damaging	Het
Uox	A	G	3: 146,610,406	D32G	possibly damaging	Het
Usp42	A	T	5: 143,719,874		probably benign	Het
Usp43	G	A	11: 67,891,419	P391L	probably benign	Het
Vmn2r56	T	C	7: 12,715,499	S271G	probably benign	Het
Wdr64	T	A	1: 175,728,825	C213S	probably damaging	Het
Zfp26	A	T	9: 20,439,548	S194T	possibly damaging	Het

Other mutations in Dbnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Dbnl	APN	11	5793722	missense	possibly damaging	0.94
IGL01596:Dbnl	APN	11	5798279	missense	probably damaging	1.00
IGL01924:Dbnl	APN	11	5797142	missense	probably damaging	1.00
IGL02331:Dbnl	APN	11	5799997	makesense	probably null
R0433:Dbnl	UTSW	11	5796825	critical splice donor site	probably null
R0646:Dbnl	UTSW	11	5795441	splice site	probably benign
R0656:Dbnl	UTSW	11	5797321	missense	probably benign
R1037:Dbnl	UTSW	11	5796807	missense	probably damaging	1.00
R1691:Dbnl	UTSW	11	5797174	missense	probably null	0.12
R1883:Dbnl	UTSW	11	5799247	missense	probably benign	0.01
R1884:Dbnl	UTSW	11	5799247	missense	probably benign	0.01
R7033:Dbnl	UTSW	11	5798102	missense	probably benign	0.44
R7541:Dbnl	UTSW	11	5795486	missense	probably damaging	0.99
R7702:Dbnl	UTSW	11	5798048	missense	probably benign
R7761:Dbnl	UTSW	11	5788597	missense	probably benign	0.33
Z1088:Dbnl	UTSW	11	5796797	nonsense	probably null

Posted On

2013-04-17