Mutagenetix > Incidental Mutation

Incidental Mutation 'R0656:Dbnl'

62552

Institutional Source

Beutler Lab

Gene Symbol

Dbnl

Ensembl Gene

ENSMUSG00000020476

Gene Name

drebrin-like

Synonyms

ABP1, SH3P7, mAbp1

MMRRC Submission

038841-MU

Accession Numbers

Essential gene?

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

Stock #

R0656 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

5738488-5750962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5747321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 247 (T247A)

Ref Sequence

ENSEMBL: ENSMUSP00000105471 (fasta)

Gene Model

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

AlphaFold

Q62418

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: T251A

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

SMART Domains

Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476
AA Change: T251A

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: T248A

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

SMART Domains

Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476
AA Change: T248A

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: T247A

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

SMART Domains

Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476
AA Change: T247A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (92/94)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	A	10: 70,704,630 (GRCm39)		noncoding transcript	Het
Alox5	A	G	6: 116,400,291 (GRCm39)		probably benign	Het
Anxa11	T	A	14: 25,874,421 (GRCm39)	D203E	probably damaging	Het
Atp12a	A	T	14: 56,611,938 (GRCm39)	N371Y	probably damaging	Het
Bloc1s6	A	G	2: 122,584,543 (GRCm39)	I39M	probably benign	Het
Celsr3	A	C	9: 108,711,854 (GRCm39)	I1688L	possibly damaging	Het
Cgn	T	C	3: 94,682,204 (GRCm39)		probably benign	Het
Chd4	A	T	6: 125,079,930 (GRCm39)	I453F	probably damaging	Het
Dpysl3	T	C	18: 43,571,136 (GRCm39)	E46G	possibly damaging	Het
Dsg1a	T	C	18: 20,468,949 (GRCm39)		probably benign	Het
Fbp1	C	T	13: 63,019,099 (GRCm39)	E150K	probably benign	Het
Flnb	T	A	14: 7,927,352 (GRCm38)	L1854Q	probably damaging	Het
Gcn1	C	T	5: 115,727,362 (GRCm39)	T714M	probably benign	Het
Gm12216	A	T	11: 53,704,162 (GRCm39)		probably benign	Het
Gpr82	T	C	X: 13,531,829 (GRCm39)	S126P	probably benign	Het
Hmbs	T	A	9: 44,248,657 (GRCm39)	H256L	probably benign	Het
Ibsp	A	T	5: 104,457,886 (GRCm39)		probably null	Het
Ints13	A	G	6: 146,453,959 (GRCm39)	V240A	probably benign	Het
Iqca1l	C	T	5: 24,754,760 (GRCm39)	V337M	possibly damaging	Het
Kalrn	T	C	16: 33,852,837 (GRCm39)	D343G	probably damaging	Het
Kin	T	C	2: 10,090,531 (GRCm39)		probably benign	Het
Klhdc1	T	C	12: 69,304,804 (GRCm39)	V192A	probably benign	Het
Lpar3	T	A	3: 145,946,426 (GRCm39)	C35S	possibly damaging	Het
Lrrtm4	A	G	6: 79,998,953 (GRCm39)	I122V	possibly damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mgat4c	T	C	10: 102,224,452 (GRCm39)	M222T	probably damaging	Het
Muc4	C	A	16: 32,570,488 (GRCm39)	S516Y	possibly damaging	Het
Myo1e	A	T	9: 70,274,956 (GRCm39)	Q703L	probably damaging	Het
Neb	A	G	2: 52,115,570 (GRCm39)		probably benign	Het
Necab3	T	G	2: 154,388,223 (GRCm39)	E239A	probably null	Het
Npr1	G	T	3: 90,368,676 (GRCm39)	N461K	probably benign	Het
Or4k44	T	C	2: 111,367,972 (GRCm39)	I221V	probably damaging	Het
Pcdhb2	A	G	18: 37,428,543 (GRCm39)	Y172C	probably damaging	Het
Pcdhb7	A	G	18: 37,474,954 (GRCm39)	D30G	probably benign	Het
Phf12	A	C	11: 77,920,158 (GRCm39)	Q898P	probably benign	Het
Plekhn1	T	C	4: 156,309,821 (GRCm39)	E132G	possibly damaging	Het
Ptpn3	A	G	4: 57,270,075 (GRCm39)	V29A	probably benign	Het
Rundc3b	T	A	5: 8,619,529 (GRCm39)	I143F	probably damaging	Het
Ryr3	T	G	2: 112,478,651 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,626,901 (GRCm39)		probably null	Het
Slc4a2	A	G	5: 24,636,257 (GRCm39)	D201G	probably benign	Het
Tecpr1	T	A	5: 144,150,871 (GRCm39)		probably null	Het
Timm21	T	C	18: 84,967,326 (GRCm39)	H150R	probably damaging	Het
Tmem79	T	C	3: 88,240,241 (GRCm39)	T236A	probably damaging	Het
Usp34	G	T	11: 23,422,967 (GRCm39)	V3095F	probably damaging	Het
Vmn1r8	A	T	6: 57,013,573 (GRCm39)	Q208L	probably benign	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
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
R7541:Dbnl	UTSW	11	5,745,486 (GRCm39)	missense	probably damaging	0.99
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'- ATGGCTGAGTGAGCAGCTCCTTTG -3'
(R):5'- AGAAGCACAGAAGCACGCCTTG -3'

Sequencing Primer
(F):5'- AAGAGAACCGCCGCCTG -3'
(R):5'- CAGGCTCTGCTAACAATGTG -3'

Posted On

2013-07-30