Mutagenetix > Incidental Mutations

Incidental Mutation 'R0850:Agbl3'

82510

Institutional Source

Beutler Lab

Gene Symbol

Agbl3

Ensembl Gene

ENSMUSG00000038836

Gene Name

ATP/GTP binding protein-like 3

Synonyms

4930431N21Rik, 2900053G10Rik, 6530406M24Rik

MMRRC Submission

039029-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0850 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34780432-34859459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34799204 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 210 (F210Y)

Ref Sequence

ENSEMBL: ENSMUSP00000110669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115016] [ENSMUST00000115017] [ENSMUST00000135304] [ENSMUST00000148834]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115016
AA Change: F215Y

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: F215Y

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:Peptidase_M14	314	563	2.7e-19	PFAM
low complexity region	614	629	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115017
AA Change: F210Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: F210Y

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:Peptidase_M14	309	560	1e-33	PFAM
low complexity region	609	624	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135304

SMART Domains

Protein: ENSMUSP00000118303
Gene: ENSMUSG00000038836

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143474

Predicted Effect

probably benign
Transcript: ENSMUST00000148834

SMART Domains

Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202017

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016C15Rik	A	G	1: 177,741,005	T23A	probably benign	Het
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
9330182L06Rik	T	A	5: 9,417,993	N220K	probably damaging	Het
Dgkq	A	G	5: 108,654,578	V418A	possibly damaging	Het
Dmp1	A	T	5: 104,212,787	D443V	possibly damaging	Het
Elavl3	T	G	9: 22,036,763	D35A	probably damaging	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Fbxw25	T	C	9: 109,649,617	K425R	probably benign	Het
Gm5538	T	G	3: 59,752,248	I374R	possibly damaging	Het
Gypa	A	G	8: 80,496,345	H26R	unknown	Het
H2-DMb1	T	C	17: 34,155,562	V62A	probably benign	Het
Helb	T	C	10: 120,105,367	H472R	probably damaging	Het
Herc1	T	G	9: 66,466,670	V3197G	probably damaging	Het
Herc2	C	A	7: 56,204,483	N3712K	probably benign	Het
Herc6	T	C	6: 57,583,242	V89A	possibly damaging	Het
Hspa1l	A	G	17: 34,977,623	T213A	probably benign	Het
Kcna7	T	C	7: 45,409,431	S381P	probably damaging	Het
Kif19a	C	A	11: 114,780,787	P164Q	probably damaging	Het
Macf1	A	G	4: 123,474,402	S2189P	probably benign	Het
Mpo	A	G	11: 87,797,502	N329S	probably damaging	Het
Mrps15	A	G	4: 126,048,686	Y76C	probably damaging	Het
Olfr643	T	A	7: 104,059,045	M186L	probably benign	Het
Olfr790	T	C	10: 129,501,724	V280A	probably damaging	Het
Prdm2	T	C	4: 143,132,203	R1506G	possibly damaging	Het
Ptprb	A	T	10: 116,302,125	Q311H	possibly damaging	Het
Ptprb	T	C	10: 116,339,510	Y1137H	probably damaging	Het
Scaf8	A	G	17: 3,195,774		probably null	Het
Slc25a1	A	T	16: 17,927,281	F105Y	probably benign	Het
Slc29a4	T	C	5: 142,718,572	V327A	probably benign	Het
Tmed10	A	G	12: 85,343,505	F195L	probably benign	Het
Tmem45a2	T	A	16: 57,045,369	I151F	probably benign	Het
Vmn2r93	C	A	17: 18,305,017	F312L	possibly damaging	Het
Zfp326	A	G	5: 105,878,797		probably null	Het

Other mutations in Agbl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Agbl3	APN	6	34846836	missense	probably damaging	1.00
IGL00835:Agbl3	APN	6	34799732	missense	probably damaging	1.00
IGL00840:Agbl3	APN	6	34799159	missense	possibly damaging	0.95
IGL01090:Agbl3	APN	6	34799887	missense	probably benign	0.40
IGL01123:Agbl3	APN	6	34846976	nonsense	probably null
IGL01707:Agbl3	APN	6	34839454	missense	possibly damaging	0.78
IGL01728:Agbl3	APN	6	34782157	start codon destroyed	probably null
IGL02335:Agbl3	APN	6	34799750	missense	probably damaging	1.00
IGL02420:Agbl3	APN	6	34785307	missense	possibly damaging	0.47
IGL02551:Agbl3	APN	6	34823071	missense	possibly damaging	0.88
IGL02974:Agbl3	APN	6	34799822	missense	probably damaging	1.00
IGL03167:Agbl3	APN	6	34857659	missense	possibly damaging	0.92
IGL03182:Agbl3	APN	6	34803500	missense	probably damaging	1.00
R0044:Agbl3	UTSW	6	34799899	missense	probably damaging	1.00
R0499:Agbl3	UTSW	6	34839335	missense	probably benign
R0639:Agbl3	UTSW	6	34799705	missense	probably damaging	1.00
R1004:Agbl3	UTSW	6	34803451	missense	probably damaging	0.99
R1080:Agbl3	UTSW	6	34828235	missense	probably benign	0.14
R1589:Agbl3	UTSW	6	34857517	missense	possibly damaging	0.77
R2361:Agbl3	UTSW	6	34832505	missense	possibly damaging	0.87
R2495:Agbl3	UTSW	6	34846764	missense	probably damaging	1.00
R3236:Agbl3	UTSW	6	34823087	splice site	probably null
R3237:Agbl3	UTSW	6	34823087	splice site	probably null
R3420:Agbl3	UTSW	6	34793965	missense	probably benign	0.36
R3421:Agbl3	UTSW	6	34793965	missense	probably benign	0.36
R3422:Agbl3	UTSW	6	34793965	missense	probably benign	0.36
R3810:Agbl3	UTSW	6	34799729	missense	probably damaging	1.00
R3811:Agbl3	UTSW	6	34799729	missense	probably damaging	1.00
R4059:Agbl3	UTSW	6	34846899	missense	probably damaging	1.00
R4499:Agbl3	UTSW	6	34857598	missense	probably benign	0.00
R4687:Agbl3	UTSW	6	34798326	missense	probably damaging	1.00
R4854:Agbl3	UTSW	6	34785284	missense	probably damaging	0.97
R5354:Agbl3	UTSW	6	34814752	missense	probably benign	0.03
R5386:Agbl3	UTSW	6	34799196	missense	probably damaging	1.00
R5897:Agbl3	UTSW	6	34803573	missense	probably benign	0.21
R6018:Agbl3	UTSW	6	34799255	missense	probably damaging	1.00
R6148:Agbl3	UTSW	6	34857753	missense	possibly damaging	0.87
R6305:Agbl3	UTSW	6	34782210	missense	unknown
R6525:Agbl3	UTSW	6	34803594	nonsense	probably null
R6546:Agbl3	UTSW	6	34799299	missense	probably damaging	1.00
R6743:Agbl3	UTSW	6	34846953	missense	probably benign	0.03
R6986:Agbl3	UTSW	6	34839452	missense	probably benign	0.42
R7023:Agbl3	UTSW	6	34814769	missense	probably benign	0.02
R7411:Agbl3	UTSW	6	34814819	missense	probably damaging	0.99
R7469:Agbl3	UTSW	6	34814414	missense	probably damaging	1.00
R7631:Agbl3	UTSW	6	34857671	missense	possibly damaging	0.95
R7658:Agbl3	UTSW	6	34832508	missense	probably benign	0.11
R7743:Agbl3	UTSW	6	34846830	missense	probably damaging	1.00
R7801:Agbl3	UTSW	6	34839365	missense	probably benign	0.00
RF014:Agbl3	UTSW	6	34799358	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GCTTCGTTAAGTGTCTTCAGTGACTAGG -3'
(R):5'- CTATTCTCTGCCAGCCAATGTTATGGG -3'

Sequencing Primer
(F):5'- TGTGAATGAATGCTAAGGCTACC -3'
(R):5'- CCAGCCAATGTTATGGGTTTTG -3'

Posted On

2013-11-08