Mutagenetix > Incidental Mutation

Incidental Mutation 'R7541:Dbnl'

583901

Institutional Source

Beutler Lab

Gene Symbol

Dbnl

Ensembl Gene

ENSMUSG00000020476

Gene Name

drebrin-like

Synonyms

ABP1, SH3P7, mAbp1

MMRRC Submission

045613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R7541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5738488-5750962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5745486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 122 (D122E)

Ref Sequence

ENSEMBL: ENSMUSP00000020769 (fasta)

Gene Model

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

AlphaFold

Q62418

Predicted Effect

probably damaging
Transcript: ENSMUST00000020769
AA Change: D122E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476
AA Change: D122E

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 damaging
Transcript: ENSMUST00000102928
AA Change: D122E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476
AA Change: D122E

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 damaging
Transcript: ENSMUST00000109845
AA Change: D122E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476
AA Change: D122E

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,610 (GRCm39)		probably null	Het
Adamts10	G	A	17: 33,750,590 (GRCm39)	R210H	probably benign	Het
Als2	T	C	1: 59,206,775 (GRCm39)		probably null	Het
Aplp2	A	T	9: 31,063,652 (GRCm39)	M652K	possibly damaging	Het
Atrn	A	G	2: 130,803,491 (GRCm39)	I560M	possibly damaging	Het
Bicc1	T	C	10: 70,782,434 (GRCm39)	D602G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cd200l2	T	A	16: 45,348,855 (GRCm39)	T106S	possibly damaging	Het
Cdh4	A	G	2: 179,086,603 (GRCm39)		probably null	Het
Clasp1	T	A	1: 118,470,727 (GRCm39)		probably null	Het
Col6a6	A	G	9: 105,644,523 (GRCm39)	I1255T	probably damaging	Het
Comp	G	T	8: 70,834,000 (GRCm39)	V672L	probably damaging	Het
Dgkz	G	A	2: 91,773,020 (GRCm39)	R346C	probably damaging	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Elmo3	T	C	8: 106,033,346 (GRCm39)	I121T	probably damaging	Het
Fam184b	A	G	5: 45,699,574 (GRCm39)	L614P	probably damaging	Het
Fbh1	T	C	2: 11,754,348 (GRCm39)	R797G	probably benign	Het
Fcgbpl1	T	A	7: 27,843,681 (GRCm39)	C856*	probably null	Het
Gata6	A	G	18: 11,059,108 (GRCm39)	T392A	probably damaging	Het
Gm29609	A	G	5: 31,311,576 (GRCm39)	F855S	probably benign	Het
Gm3424	T	C	14: 17,337,195 (GRCm39)	N88D	possibly damaging	Het
Gnas	T	A	2: 174,139,892 (GRCm39)	S80T	unknown	Het
Hsd17b14	C	A	7: 45,215,570 (GRCm39)	P190Q	probably damaging	Het
Iqch	C	T	9: 63,352,803 (GRCm39)	V955I	possibly damaging	Het
Kcnt2	T	C	1: 140,304,122 (GRCm39)	V164A	probably benign	Het
Krt87	A	G	15: 101,336,515 (GRCm39)	L46P	probably damaging	Het
Lef1	A	G	3: 130,984,748 (GRCm39)	M237V	probably benign	Het
Lmbr1l	A	T	15: 98,807,267 (GRCm39)		probably null	Het
Lrrc49	T	C	9: 60,517,686 (GRCm39)	I408V	probably damaging	Het
Luc7l3	T	C	11: 94,186,791 (GRCm39)	S365G	unknown	Het
Marchf2	A	T	17: 33,922,032 (GRCm39)	C109*	probably null	Het
Metrnl	T	A	11: 121,606,796 (GRCm39)	C284S	probably damaging	Het
Mmachc	G	A	4: 116,563,082 (GRCm39)	T91I	probably benign	Het
Mrps7	T	G	11: 115,497,696 (GRCm39)	M187R	probably damaging	Het
Ncapd3	A	G	9: 26,978,336 (GRCm39)	E845G	probably damaging	Het
Nscme3l	G	A	19: 5,553,439 (GRCm39)	P114L	probably benign	Het
Ooep	T	A	9: 78,285,347 (GRCm39)	T90S	possibly damaging	Het
Or13c25	A	T	4: 52,911,376 (GRCm39)	D139E	probably benign	Het
Or2y1g	T	A	11: 49,171,160 (GRCm39)	F62I	probably damaging	Het
Pcdhb18	A	T	18: 37,624,662 (GRCm39)	D664V	probably damaging	Het
Pigz	T	C	16: 31,763,949 (GRCm39)	S336P	probably benign	Het
Pou2f2	A	T	7: 24,815,553 (GRCm39)	D71E	probably benign	Het
Reep6	G	T	10: 80,171,033 (GRCm39)	R303L	possibly damaging	Het
Rmdn2	A	T	17: 79,935,297 (GRCm39)	S137C		Het
Rnf220	A	T	4: 117,347,127 (GRCm39)	L95H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Stxbp1	A	T	2: 32,708,517 (GRCm39)	S83T	probably damaging	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Trappc11	T	C	8: 47,958,617 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,621,645 (GRCm39)	D15598E	probably damaging	Het
Vav2	T	A	2: 27,165,014 (GRCm39)	R645W	probably damaging	Het
Vmn1r169	T	A	7: 23,277,412 (GRCm39)	V268D	probably benign	Het
Zp2	A	T	7: 119,735,279 (GRCm39)	C365S	probably damaging	Het

Other mutations in Dbnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Dbnl	APN	11	5,748,105 (GRCm39)	missense	probably benign
IGL01101:Dbnl	APN	11	5,743,722 (GRCm39)	missense	possibly damaging	0.94
IGL01596:Dbnl	APN	11	5,748,279 (GRCm39)	missense	probably damaging	1.00
IGL01924:Dbnl	APN	11	5,747,142 (GRCm39)	missense	probably damaging	1.00
IGL02331:Dbnl	APN	11	5,749,997 (GRCm39)	makesense	probably null
R0433:Dbnl	UTSW	11	5,746,825 (GRCm39)	critical splice donor site	probably null
R0646:Dbnl	UTSW	11	5,745,441 (GRCm39)	splice site	probably benign
R0656:Dbnl	UTSW	11	5,747,321 (GRCm39)	missense	probably benign
R1037:Dbnl	UTSW	11	5,746,807 (GRCm39)	missense	probably damaging	1.00
R1691:Dbnl	UTSW	11	5,747,174 (GRCm39)	missense	probably null	0.12
R1883:Dbnl	UTSW	11	5,749,247 (GRCm39)	missense	probably benign	0.01
R1884:Dbnl	UTSW	11	5,749,247 (GRCm39)	missense	probably benign	0.01
R7033:Dbnl	UTSW	11	5,748,102 (GRCm39)	missense	probably benign	0.44
R7702:Dbnl	UTSW	11	5,748,048 (GRCm39)	missense	probably benign
R7761:Dbnl	UTSW	11	5,738,597 (GRCm39)	missense	probably benign	0.33
R7904:Dbnl	UTSW	11	5,741,779 (GRCm39)	splice site	probably null
R8725:Dbnl	UTSW	11	5,738,582 (GRCm39)	missense	probably benign	0.07
R8727:Dbnl	UTSW	11	5,738,582 (GRCm39)	missense	probably benign	0.07
R8837:Dbnl	UTSW	11	5,741,839 (GRCm39)	missense	possibly damaging	0.95
Z1088:Dbnl	UTSW	11	5,746,797 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTCTAAGGTCCACAGCTGG -3'
(R):5'- TCTAAAGACCCCAAGCAGGAGG -3'

Sequencing Primer
(F):5'- TCCACAGCTGGGGAGAG -3'
(R):5'- GGAATGTAGTTACCTCGACATTAGG -3'

Posted On

2019-10-17