Mutagenetix > Incidental Mutation

Incidental Mutation 'R2361:Agbl3'

247147

Institutional Source

Beutler Lab

Gene Symbol

Agbl3

Ensembl Gene

ENSMUSG00000038836

Gene Name

ATP/GTP binding protein-like 3

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34757367-34836394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34809440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 689 (D689G)

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: D689G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: D689G

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: D684G

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: D684G

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: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	T	18: 70,602,646 (GRCm39)	Q56K	probably damaging	Het
Acrv1	A	G	9: 36,609,846 (GRCm39)	N239S	possibly damaging	Het
Acss2	A	G	2: 155,400,589 (GRCm39)	K543E	probably damaging	Het
Ass1	T	C	2: 31,410,394 (GRCm39)	Y402H	probably benign	Het
Atr	A	G	9: 95,753,210 (GRCm39)	H683R	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Cacna1h	C	A	17: 25,602,986 (GRCm39)	V1445F	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Lce1k	T	A	3: 92,713,891 (GRCm39)	S98C	unknown	Het
Lrrc9	T	C	12: 72,510,244 (GRCm39)	C448R	possibly damaging	Het
Map3k13	A	G	16: 21,725,286 (GRCm39)	T420A	probably benign	Het
Megf8	A	G	7: 25,048,379 (GRCm39)	D1684G	possibly damaging	Het
Nacad	T	C	11: 6,550,821 (GRCm39)	H790R	probably benign	Het
Nsd1	A	G	13: 55,361,524 (GRCm39)	D164G	possibly damaging	Het
Nt5e	T	C	9: 88,252,290 (GRCm39)	S551P	possibly damaging	Het
Ptgs2	T	C	1: 149,979,726 (GRCm39)	V277A	probably benign	Het
Slc34a2	T	A	5: 53,225,487 (GRCm39)	F411L	probably benign	Het
Slc4a1	T	C	11: 102,247,656 (GRCm39)	Y409C	probably damaging	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
R1080:Agbl3	UTSW	6	34,805,170 (GRCm39)	missense	probably benign	0.14
R1589:Agbl3	UTSW	6	34,834,452 (GRCm39)	missense	possibly damaging	0.77
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

PCR Primer
(F):5'- CCTAGAGAAGCAATTCTTATCCCAAAG -3'
(R):5'- TGGCACCCTAAGCATAAAAGG -3'

Sequencing Primer
(F):5'- ACTCACACAGTATGTGCG -3'
(R):5'- ACCGTAAGTACAATTTTATCTCCCTC -3'

Posted On

2014-10-30