Mutagenetix > Incidental Mutation

Incidental Mutation 'R1080:Agbl3'

85822

Institutional Source

Beutler Lab

Gene Symbol

Agbl3

Ensembl Gene

ENSMUSG00000038836

Gene Name

ATP/GTP binding protein-like 3

Synonyms

Ccp3, 2900053G10Rik, 6530406M24Rik, Ccp3, 4930431N21Rik

MMRRC Submission

039166-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34757367-34836394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34805170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 679 (N679I)

Ref Sequence

ENSEMBL: ENSMUSP00000110669 (fasta)

Gene Model

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

AlphaFold

Q8CDP0

Predicted Effect

probably benign
Transcript: ENSMUST00000115016
AA Change: N684I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: N684I

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: N679I

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: N679I

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: 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

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.2%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,265,109 (GRCm39)	N87S	probably benign	Het
Akp3	T	A	1: 87,054,723 (GRCm39)	F353I	probably damaging	Het
Bltp1	A	G	3: 37,042,404 (GRCm39)	T2797A	probably damaging	Het
Calu	A	G	6: 29,366,919 (GRCm39)	T44A	possibly damaging	Het
Cd180	G	A	13: 102,842,728 (GRCm39)	W591*	probably null	Het
Cnbd2	A	G	2: 156,181,193 (GRCm39)	N209S	probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fam136b-ps	T	C	15: 31,276,739 (GRCm39)		probably benign	Het
Fbln5	A	T	12: 101,717,131 (GRCm39)	M419K	possibly damaging	Het
Galr1	A	C	18: 82,423,632 (GRCm39)	I215S	probably damaging	Het
Kcnma1	G	C	14: 23,544,675 (GRCm39)	Q436E	probably damaging	Het
Khsrp	GTCATT	GT	17: 57,331,410 (GRCm39)		probably null	Het
Klhdc8b	T	C	9: 108,326,837 (GRCm39)	N175S	probably benign	Het
Lrrk2	T	C	15: 91,557,892 (GRCm39)	V76A	probably benign	Het
Mnat1	T	C	12: 73,319,292 (GRCm39)	F305S	probably damaging	Het
Nck2	T	C	1: 43,572,741 (GRCm39)	V5A	probably benign	Het
Nkd1	T	A	8: 89,318,647 (GRCm39)	M428K	probably benign	Het
Or4e5	A	T	14: 52,728,042 (GRCm39)	Y43*	probably null	Het
Pcdh7	T	C	5: 57,876,768 (GRCm39)	C108R	probably damaging	Het
Rtf2	G	T	2: 172,310,666 (GRCm39)	W299L	probably damaging	Het
Smtn	C	A	11: 3,467,693 (GRCm39)	R942L	probably damaging	Het
Svil	C	T	18: 5,058,147 (GRCm39)	P265S	possibly damaging	Het
Tdrd3	T	C	14: 87,743,834 (GRCm39)	L588P	probably benign	Het
Tecpr1	A	G	5: 144,153,747 (GRCm39)	Y169H	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmprss2	G	A	16: 97,392,698 (GRCm39)	S83L	probably benign	Het
Tut4	A	G	4: 108,336,696 (GRCm39)	E140G	possibly damaging	Het
Vmn2r112	T	C	17: 22,837,980 (GRCm39)	S814P	probably damaging	Het
Zfp386	T	A	12: 116,023,426 (GRCm39)	C381*	probably null	Het
Zfp809	T	G	9: 22,146,405 (GRCm39)	D31E	probably damaging	Het
Zfy2	T	A	Y: 2,121,645 (GRCm39)	T83S	probably benign	Het
Zswim6	A	G	13: 107,924,186 (GRCm39)		noncoding transcript	Het

Other mutations in Agbl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Agbl3	APN	6	34,823,771 (GRCm39)	missense	probably damaging	1.00
IGL00835:Agbl3	APN	6	34,776,667 (GRCm39)	missense	probably damaging	1.00
IGL00840:Agbl3	APN	6	34,776,094 (GRCm39)	missense	possibly damaging	0.95
IGL01090:Agbl3	APN	6	34,776,822 (GRCm39)	missense	probably benign	0.40
IGL01123:Agbl3	APN	6	34,823,911 (GRCm39)	nonsense	probably null
IGL01707:Agbl3	APN	6	34,816,389 (GRCm39)	missense	possibly damaging	0.78
IGL01728:Agbl3	APN	6	34,759,092 (GRCm39)	start codon destroyed	probably null
IGL02335:Agbl3	APN	6	34,776,685 (GRCm39)	missense	probably damaging	1.00
IGL02420:Agbl3	APN	6	34,762,242 (GRCm39)	missense	possibly damaging	0.47
IGL02551:Agbl3	APN	6	34,800,006 (GRCm39)	missense	possibly damaging	0.88
IGL02974:Agbl3	APN	6	34,776,757 (GRCm39)	missense	probably damaging	1.00
IGL03167:Agbl3	APN	6	34,834,594 (GRCm39)	missense	possibly damaging	0.92
IGL03182:Agbl3	APN	6	34,780,435 (GRCm39)	missense	probably damaging	1.00
R0044:Agbl3	UTSW	6	34,776,834 (GRCm39)	missense	probably damaging	1.00
R0499:Agbl3	UTSW	6	34,816,270 (GRCm39)	missense	probably benign
R0639:Agbl3	UTSW	6	34,776,640 (GRCm39)	missense	probably damaging	1.00
R0850:Agbl3	UTSW	6	34,776,139 (GRCm39)	missense	probably damaging	1.00
R1004:Agbl3	UTSW	6	34,780,386 (GRCm39)	missense	probably damaging	0.99
R1589:Agbl3	UTSW	6	34,834,452 (GRCm39)	missense	possibly damaging	0.77
R2361:Agbl3	UTSW	6	34,809,440 (GRCm39)	missense	possibly damaging	0.87
R2495:Agbl3	UTSW	6	34,823,699 (GRCm39)	missense	probably damaging	1.00
R3236:Agbl3	UTSW	6	34,800,022 (GRCm39)	splice site	probably null
R3237:Agbl3	UTSW	6	34,800,022 (GRCm39)	splice site	probably null
R3420:Agbl3	UTSW	6	34,770,900 (GRCm39)	missense	probably benign	0.36
R3421:Agbl3	UTSW	6	34,770,900 (GRCm39)	missense	probably benign	0.36
R3422:Agbl3	UTSW	6	34,770,900 (GRCm39)	missense	probably benign	0.36
R3810:Agbl3	UTSW	6	34,776,664 (GRCm39)	missense	probably damaging	1.00
R3811:Agbl3	UTSW	6	34,776,664 (GRCm39)	missense	probably damaging	1.00
R4059:Agbl3	UTSW	6	34,823,834 (GRCm39)	missense	probably damaging	1.00
R4499:Agbl3	UTSW	6	34,834,533 (GRCm39)	missense	probably benign	0.00
R4687:Agbl3	UTSW	6	34,775,261 (GRCm39)	missense	probably damaging	1.00
R4854:Agbl3	UTSW	6	34,762,219 (GRCm39)	missense	probably damaging	0.97
R5354:Agbl3	UTSW	6	34,791,687 (GRCm39)	missense	probably benign	0.03
R5386:Agbl3	UTSW	6	34,776,131 (GRCm39)	missense	probably damaging	1.00
R5897:Agbl3	UTSW	6	34,780,508 (GRCm39)	missense	probably benign	0.21
R6018:Agbl3	UTSW	6	34,776,190 (GRCm39)	missense	probably damaging	1.00
R6148:Agbl3	UTSW	6	34,834,688 (GRCm39)	missense	possibly damaging	0.87
R6305:Agbl3	UTSW	6	34,759,145 (GRCm39)	missense	unknown
R6525:Agbl3	UTSW	6	34,780,529 (GRCm39)	nonsense	probably null
R6546:Agbl3	UTSW	6	34,776,234 (GRCm39)	missense	probably damaging	1.00
R6743:Agbl3	UTSW	6	34,823,888 (GRCm39)	missense	probably benign	0.03
R6986:Agbl3	UTSW	6	34,816,387 (GRCm39)	missense	probably benign	0.42
R7023:Agbl3	UTSW	6	34,791,704 (GRCm39)	missense	probably benign	0.02
R7411:Agbl3	UTSW	6	34,791,754 (GRCm39)	missense	probably damaging	0.99
R7469:Agbl3	UTSW	6	34,791,349 (GRCm39)	missense	probably damaging	1.00
R7631:Agbl3	UTSW	6	34,834,606 (GRCm39)	missense	possibly damaging	0.95
R7658:Agbl3	UTSW	6	34,809,443 (GRCm39)	missense	probably benign	0.11
R7743:Agbl3	UTSW	6	34,823,765 (GRCm39)	missense	probably damaging	1.00
R7801:Agbl3	UTSW	6	34,816,300 (GRCm39)	missense	probably benign	0.00
R8033:Agbl3	UTSW	6	34,816,429 (GRCm39)	missense	possibly damaging	0.95
R8203:Agbl3	UTSW	6	34,776,414 (GRCm39)	missense	probably damaging	1.00
R8769:Agbl3	UTSW	6	34,834,549 (GRCm39)	missense	probably damaging	0.96
R9072:Agbl3	UTSW	6	34,776,387 (GRCm39)	missense	probably damaging	1.00
R9073:Agbl3	UTSW	6	34,776,387 (GRCm39)	missense	probably damaging	1.00
R9210:Agbl3	UTSW	6	34,775,177 (GRCm39)	missense	probably damaging	0.98
R9255:Agbl3	UTSW	6	34,789,840 (GRCm39)	missense	probably damaging	1.00
R9536:Agbl3	UTSW	6	34,823,861 (GRCm39)	missense	probably benign
R9560:Agbl3	UTSW	6	34,823,843 (GRCm39)	missense	possibly damaging	0.94
R9662:Agbl3	UTSW	6	34,809,468 (GRCm39)	nonsense	probably null
RF014:Agbl3	UTSW	6	34,776,293 (GRCm39)	missense	possibly damaging	0.53
Z1177:Agbl3	UTSW	6	34,776,343 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-11-18