Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01090:Agbl3'

51294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agbl3

Ensembl Gene

ENSMUSG00000038836

Gene Name

ATP/GTP binding protein-like 3

Synonyms

4930431N21Rik, 2900053G10Rik, 6530406M24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01090

Quality Score

Status

Chromosome

Chromosomal Location

34780432-34859459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34799887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 443 (Y443H)

Ref Sequence

ENSEMBL: ENSMUSP00000110668 (fasta)

Gene Model

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

AlphaFold

Q8CDP0

Predicted Effect

probably benign
Transcript: ENSMUST00000115016
AA Change: Y443H

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: Y443H

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 benign
Transcript: ENSMUST00000115017
AA Change: Y438H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: Y438H

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,919,118	S316P	possibly damaging	Het
Actn1	A	T	12: 80,199,072		probably null	Het
Akap13	T	A	7: 75,666,531	D578E	probably benign	Het
Aldoa	A	T	7: 126,796,035	H292Q	probably benign	Het
Als2	T	C	1: 59,215,616	K194R	possibly damaging	Het
Bivm	C	A	1: 44,129,291	H244N	probably damaging	Het
Cabp5	G	A	7: 13,405,487	E146K	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Clcn4	A	G	7: 7,294,036	V129A	probably benign	Het
Clec4g	A	G	8: 3,719,482	S54P	probably damaging	Het
Crim1	G	T	17: 78,347,229	V645L	probably damaging	Het
Csta1	T	C	16: 36,125,051	T31A	probably damaging	Het
D930048N14Rik	T	C	11: 51,653,783		probably benign	Het
Dhx34	G	T	7: 16,216,256	P329Q	probably damaging	Het
Dusp16	T	C	6: 134,725,949	N193S	probably benign	Het
Fbn1	A	G	2: 125,394,776		probably benign	Het
Fbxo46	A	G	7: 19,136,803	Y449C	probably damaging	Het
Fmo4	C	A	1: 162,809,785		probably null	Het
Foxi3	C	A	6: 70,960,745	N320K	probably damaging	Het
Gm9964	A	G	11: 79,296,384	L79P	unknown	Het
Gpr161	T	C	1: 165,306,580	I137T	probably damaging	Het
Herc1	C	T	9: 66,469,175	Q3426*	probably null	Het
Hps5	C	T	7: 46,788,327	R108H	probably benign	Het
Itch	T	A	2: 155,206,336	V540E	probably damaging	Het
L3mbtl1	C	A	2: 162,966,005	P520H	probably damaging	Het
Mvp	A	G	7: 126,989,687	V636A	probably benign	Het
Odf4	A	G	11: 68,921,952		probably benign	Het
Olfr830	A	G	9: 18,876,242	K305R	probably benign	Het
Pld1	T	C	3: 28,088,667	S675P	probably benign	Het
Plod3	A	G	5: 136,990,236	D325G	probably benign	Het
Prss12	T	C	3: 123,482,739	V339A	possibly damaging	Het
Ptpn13	T	A	5: 103,541,314	L991Q	probably null	Het
Ptpn3	T	A	4: 57,240,833	I261F	probably damaging	Het
Rab3gap1	T	C	1: 127,930,387		probably benign	Het
Rasa4	A	G	5: 136,101,993	R373G	possibly damaging	Het
Rmi1	T	C	13: 58,409,394	S486P	probably damaging	Het
Slc25a23	A	G	17: 57,047,233	I139T	probably benign	Het
Sspo	T	A	6: 48,490,125	S4017T	probably benign	Het
Tcaf1	C	A	6: 42,686,622	C108F	probably benign	Het
Tnc	T	C	4: 64,000,080	Q1198R	probably damaging	Het
Tnni3k	G	T	3: 154,939,683	Q522K	possibly damaging	Het
Trio	T	A	15: 27,773,007	E713V	probably damaging	Het
Ugt2b34	C	A	5: 86,893,820	V338F	probably damaging	Het
Usp40	T	A	1: 87,962,465	M892L	probably benign	Het
Usp54	A	T	14: 20,586,157		probably benign	Het
Vmn2r53	T	C	7: 12,600,908	E275G	possibly damaging	Het
Vmn2r87	A	G	10: 130,497,378	M1T	probably null	Het
Wdr66	A	C	5: 123,279,989		probably benign	Het
Wdr83os	A	T	8: 85,081,847	D76V	probably damaging	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
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
R0850:Agbl3	UTSW	6	34799204	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
R8033:Agbl3	UTSW	6	34839494	missense	possibly damaging	0.95
R8203:Agbl3	UTSW	6	34799479	missense	probably damaging	1.00
R8769:Agbl3	UTSW	6	34857614	missense	probably damaging	0.96
R9072:Agbl3	UTSW	6	34799452	missense	probably damaging	1.00
R9073:Agbl3	UTSW	6	34799452	missense	probably damaging	1.00
R9210:Agbl3	UTSW	6	34798242	missense	probably damaging	0.98
R9255:Agbl3	UTSW	6	34812905	missense	probably damaging	1.00
R9536:Agbl3	UTSW	6	34846926	missense	probably benign
R9560:Agbl3	UTSW	6	34846908	missense	possibly damaging	0.94
R9662:Agbl3	UTSW	6	34832533	nonsense	probably null
RF014:Agbl3	UTSW	6	34799358	missense	possibly damaging	0.53
Z1177:Agbl3	UTSW	6	34799408	missense	probably damaging	1.00

Posted On

2013-06-21