Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Agbl3'

298104

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 #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

34780432-34859459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34823071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 638 (K638R)

Ref Sequence

ENSEMBL: ENSMUSP00000110668 (fasta)

Gene Model

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

AlphaFold

Q8CDP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115016
AA Change: K638R

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: K638R

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: K633R

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: K633R

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

noncoding transcript
Transcript: ENSMUST00000118782

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: 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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,969,048		noncoding transcript	Het
Abca8a	T	C	11: 110,084,242	I109V	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Adamts18	C	A	8: 113,699,072	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,870,038	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,543,233	T694A	probably damaging	Het
Adgra2	G	A	8: 27,119,222	V609I	probably benign	Het
Alpk2	T	A	18: 65,372,751	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,418,091	I245N	probably damaging	Het
Aqp9	A	G	9: 71,132,640	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,930,346	E465G	probably damaging	Het
Btrc	G	T	19: 45,423,134	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,133,100	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,152,912	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686	S25P	probably benign	Het
Dnajc6	T	A	4: 101,639,353	W838R	probably damaging	Het
Fam78a	T	A	2: 32,069,556	T181S	probably damaging	Het
Fat1	A	G	8: 45,051,398	T4600A	probably damaging	Het
Fbxo31	A	T	8: 121,566,344	Y101N	probably damaging	Het
Glmp	A	G	3: 88,325,082	M1V	probably null	Het
Gsdmc	T	A	15: 63,801,933	T168S	probably benign	Het
Has1	C	T	17: 17,848,298	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,454,811	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,484,902	M292I	probably benign	Het
Kmo	A	T	1: 175,637,919	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,813,548	T608I	possibly damaging	Het
Mical2	A	T	7: 112,323,990	N635I	probably benign	Het
Nags	T	C	11: 102,147,941	S403P	probably damaging	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Ncan	A	T	8: 70,102,462	N1018K	probably damaging	Het
Notch3	T	A	17: 32,154,731		probably benign	Het
Nup93	C	T	8: 94,227,833	Q53*	probably null	Het
Pdk2	T	A	11: 95,028,586	M288L	probably benign	Het
Pkd1	A	G	17: 24,573,815	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,403,870	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,299,094	D511V	possibly damaging	Het
Plin2	C	A	4: 86,658,692	M265I	probably benign	Het
Ppp6c	A	T	2: 39,206,657	F78I	probably damaging	Het
Prop1	A	T	11: 50,950,946	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,831,484	E222D	probably damaging	Het
Rtkn	A	T	6: 83,151,924	I454F	probably damaging	Het
Serinc2	T	C	4: 130,260,774	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,904,338	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,424,573	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,404,275		probably benign	Het
Spg7	G	A	8: 123,076,978	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916	D40G	probably benign	Het
Tmcc2	A	G	1: 132,357,579	L683P	probably damaging	Het
Triobp	T	C	15: 78,973,489	S1097P	probably benign	Het
Tspan9	T	C	6: 127,965,763	D167G	probably null	Het
Ttll6	T	C	11: 96,154,700	I581T	probably benign	Het
Usp29	A	G	7: 6,963,353		probably null	Het
Vgll4	A	G	6: 114,862,293	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,026,141	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,788,506	T185A	probably benign	Het
Vwce	A	G	19: 10,645,036	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462	E2194G	possibly 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
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
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

2015-04-16