Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02974:Agbl3'

406308

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 #

IGL02974

Quality Score

Status

Chromosome

Chromosomal Location

34780432-34859459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34799822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 416 (L416S)

Ref Sequence

ENSEMBL: ENSMUSP00000110669 (fasta)

Gene Model

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

AlphaFold

Q8CDP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000115016
AA Change: L421S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: L421S

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: L416S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: L416S

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	T	5: 48,388,137	T242M	probably damaging	Het
Abcg3	A	T	5: 104,968,263	I235N	probably damaging	Het
Alcam	T	C	16: 52,295,716	D165G	probably benign	Het
Aldh18a1	T	A	19: 40,569,084	I341F	probably damaging	Het
Amn	T	C	12: 111,271,141	V7A	probably benign	Het
Apc	C	T	18: 34,268,383		probably benign	Het
Arg2	T	C	12: 79,150,792	Y195H	probably damaging	Het
Bdp1	A	T	13: 100,055,292	M22K	probably benign	Het
Cacna1s	T	G	1: 136,092,617	N797K	possibly damaging	Het
Chd8	T	A	14: 52,201,701		probably null	Het
Clstn2	G	A	9: 97,532,707	T378M	probably damaging	Het
Elf2	A	G	3: 51,257,689	V298A	probably damaging	Het
Fbn1	C	T	2: 125,346,330	D1530N	probably null	Het
Fcrls	A	T	3: 87,257,397	I274N	possibly damaging	Het
Fmo3	C	T	1: 162,983,050	E24K	probably damaging	Het
Fndc3b	A	T	3: 27,488,276	N408K	probably damaging	Het
Foxn2	A	T	17: 88,463,115	N130I	probably damaging	Het
Fscb	T	A	12: 64,471,525	I1056F	unknown	Het
Gimap5	A	C	6: 48,753,377	T294P	possibly damaging	Het
Gm20489	T	C	X: 101,263,714	Q11R	probably damaging	Het
Gpr3	T	C	4: 133,210,909	T151A	possibly damaging	Het
Gzmc	T	A	14: 56,233,994	H30L	probably damaging	Het
Ints6l	C	A	X: 56,506,936	S845Y	probably benign	Het
Iqcf3	A	T	9: 106,553,645	C101*	probably null	Het
Krt82	G	A	15: 101,550,585	Q7*	probably null	Het
L3mbtl1	A	T	2: 162,970,183	H716L	possibly damaging	Het
Lefty1	C	A	1: 180,935,277	H56Q	probably benign	Het
Lrp1	T	C	10: 127,555,016	Y3004C	probably damaging	Het
Lrp10	C	A	14: 54,467,884	S177*	probably null	Het
Naa15	A	G	3: 51,461,207	K576R	possibly damaging	Het
Naip2	A	G	13: 100,161,678	S617P	probably damaging	Het
Olfm1	T	G	2: 28,229,689	N445K	probably damaging	Het
Olfr1187-ps1	C	T	2: 88,540,235		silent	Het
Olfr1449	T	G	19: 12,935,035	V99G	probably benign	Het
Ostm1	T	A	10: 42,683,162	N139K	probably damaging	Het
Ovol1	A	G	19: 5,551,149	Y205H	probably damaging	Het
Pappa	C	T	4: 65,204,935	L836F	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Ppfia2	A	G	10: 106,800,776	K229E	probably benign	Het
Ppm1b	T	A	17: 84,993,824	V44E	possibly damaging	Het
Rapgef1	T	C	2: 29,710,216	F611L	possibly damaging	Het
Rev3l	T	A	10: 39,862,747	Y2832*	probably null	Het
Robo1	T	A	16: 73,006,862	Y1099N	probably benign	Het
Sf3b1	T	C	1: 55,007,707	H226R	probably benign	Het
Slc26a4	C	T	12: 31,529,554	V570I	probably damaging	Het
Slc27a1	C	A	8: 71,584,203	A361D	probably damaging	Het
Srp68	T	C	11: 116,246,225	N549D	probably benign	Het
Terb1	G	T	8: 104,494,968	S202*	probably null	Het
Tmc1	T	A	19: 20,900,844	M96L	probably benign	Het
Tmprss11d	A	G	5: 86,306,376	V190A	probably damaging	Het
Ttll6	G	A	11: 96,156,702	C709Y	probably benign	Het
Uba1	A	G	X: 20,678,720	H712R	probably benign	Het
Unc80	A	C	1: 66,525,658	T835P	possibly damaging	Het
Vmn2r14	G	A	5: 109,221,426	P94S	possibly damaging	Het
Yes1	C	T	5: 32,660,768	A383V	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
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
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

2016-08-02