Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02420:Agbl3'

292649

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02420

Quality Score

Status

Chromosome

Chromosomal Location

34780432-34859459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34785307 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 81 (S81T)

Ref Sequence

ENSEMBL: ENSMUSP00000110669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115009] [ENSMUST00000115012] [ENSMUST00000115014] [ENSMUST00000115016] [ENSMUST00000115017] [ENSMUST00000135304] [ENSMUST00000148834]

Predicted Effect

probably benign
Transcript: ENSMUST00000115009

Predicted Effect

probably benign
Transcript: ENSMUST00000115012

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115014
AA Change: S81T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110666
Gene: ENSMUSG00000038836
AA Change: S81T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115016
AA Change: S81T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: S81T

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

possibly damaging
Transcript: ENSMUST00000115017
AA Change: S81T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: S81T

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: ENSMUST00000119745

Predicted Effect

probably benign
Transcript: ENSMUST00000135304
AA Change: S81T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118303
Gene: ENSMUSG00000038836
AA Change: S81T

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
AA Change: S81T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836
AA Change: S81T

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,880,494	N136S	probably damaging	Het
3110062M04Rik	T	C	6: 34,874,469	Y150C	probably damaging	Het
Adcy8	A	G	15: 64,787,454	S496P	probably damaging	Het
Apobec1	A	T	6: 122,581,572	Y75N	probably benign	Het
Asic2	A	G	11: 80,881,653	L517P	probably benign	Het
Atp8a1	A	G	5: 67,682,783	S752P	probably damaging	Het
Blm	T	C	7: 80,496,006	Y775C	probably damaging	Het
C1qtnf5	T	C	9: 44,108,604	I175T	probably benign	Het
Ccdc81	G	A	7: 89,875,738	T545I	probably benign	Het
Ccdc88b	T	C	19: 6,856,949	E174G	probably damaging	Het
Chl1	G	A	6: 103,715,369	V1066M	probably damaging	Het
Cntn6	T	A	6: 104,846,142		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cysrt1	T	C	2: 25,239,348	I51V	probably benign	Het
Dnah7a	T	C	1: 53,686,543	N69S	probably benign	Het
Fam83d	T	C	2: 158,785,735	L448P	probably benign	Het
Gm9631	G	A	11: 121,943,652			Het
Hmcn1	T	C	1: 150,722,424	Y1709C	probably damaging	Het
Inppl1	G	A	7: 101,832,319		probably benign	Het
Iqcc	T	C	4: 129,616,955	T256A	probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Lyz1	A	T	10: 117,288,630	C134S	probably damaging	Het
Mpzl3	T	C	9: 45,066,517	I141T	possibly damaging	Het
Mterf1a	T	C	5: 3,891,047	N274D	probably damaging	Het
Myo18a	T	A	11: 77,818,693	V543D	possibly damaging	Het
Myo18b	A	T	5: 112,827,986	D1332E	possibly damaging	Het
Olfr458	A	G	6: 42,460,176	V281A	probably benign	Het
Pcdh15	A	T	10: 74,303,106	D333V	probably damaging	Het
Plekha7	A	G	7: 116,158,234	Y494H	probably damaging	Het
Plekhg1	A	G	10: 3,964,106	N1276S	probably damaging	Het
Ppig	T	C	2: 69,732,227	V5A	probably benign	Het
Prag1	A	T	8: 36,147,426		probably benign	Het
Prom1	T	C	5: 44,063,154	N84S	probably benign	Het
Ptprh	T	A	7: 4,580,930	Y221F	probably damaging	Het
Qsox2	A	G	2: 26,220,719	Y162H	probably benign	Het
Rab2a	C	T	4: 8,572,553	T49M	possibly damaging	Het
Ring1	A	G	17: 34,023,148	S96P	possibly damaging	Het
Ripk3	A	G	14: 55,785,234	F411S	probably benign	Het
Rock1	T	C	18: 10,070,619		probably null	Het
Rtn4rl1	A	G	11: 75,265,819	N359S	probably damaging	Het
Ssfa2	T	C	2: 79,635,642	S35P	probably damaging	Het
Sufu	A	G	19: 46,425,042	T76A	probably damaging	Het
Sugct	C	A	13: 17,452,468	V267F	probably damaging	Het
Tcf4	A	T	18: 69,564,139	R29W	probably damaging	Het
Tnfsf18	A	T	1: 161,503,589	I103L	probably benign	Het
Vwf	A	G	6: 125,677,916	E2525G	probably benign	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
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	not run
RF014:Agbl3	UTSW	6	34799358	missense	possibly damaging	0.53
Z1177:Agbl3	UTSW	6	34799408	missense	not run

Posted On

2015-04-16