Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Agbl3'

177716

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

039626-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34757367-34836394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34834452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 874 (S874G)

Ref Sequence

ENSEMBL: ENSMUSP00000110669 (fasta)

Gene Model

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

AlphaFold

Q8CDP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115016
AA Change: S879G

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: S879G

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: S874G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: S874G

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: ENSMUST00000202329

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,685,501 (GRCm39)		probably benign	Het
Aadacl2	C	T	3: 59,917,997 (GRCm39)	T82I	probably benign	Het
Acadl	T	C	1: 66,892,382 (GRCm39)	N147S	probably benign	Het
Actr3	A	T	1: 125,336,300 (GRCm39)	M79K	probably damaging	Het
Aoah	A	T	13: 21,187,118 (GRCm39)	T472S	probably damaging	Het
Asb16	A	T	11: 102,159,821 (GRCm39)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm39)	D172G	probably benign	Het
Bax	T	C	7: 45,114,671 (GRCm39)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,118 (GRCm39)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,789,325 (GRCm39)		probably benign	Het
Cand1	A	G	10: 119,049,471 (GRCm39)	L425P	probably damaging	Het
Caskin1	G	A	17: 24,724,452 (GRCm39)		probably null	Het
Cd248	C	T	19: 5,119,960 (GRCm39)	P603S	probably benign	Het
Cep95	G	T	11: 106,690,930 (GRCm39)	R143L	probably benign	Het
Clptm1l	G	T	13: 73,762,792 (GRCm39)		probably null	Het
Cntnap5a	T	C	1: 115,987,930 (GRCm39)	F154L	possibly damaging	Het
Cyld	A	T	8: 89,436,618 (GRCm39)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,597,288 (GRCm39)	S370P	probably damaging	Het
Enah	G	T	1: 181,749,858 (GRCm39)	T327K	probably damaging	Het
Farp2	A	T	1: 93,507,582 (GRCm39)	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,683,612 (GRCm39)	T301M	probably damaging	Het
Foxc2	A	T	8: 121,843,915 (GRCm39)	T188S	probably benign	Het
Fzd2	A	G	11: 102,497,154 (GRCm39)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,680,334 (GRCm39)	S248*	probably null	Het
Glul	A	T	1: 153,781,284 (GRCm39)		probably benign	Het
Gm28042	A	G	2: 119,871,887 (GRCm39)	T946A	probably benign	Het
Golga3	T	A	5: 110,329,649 (GRCm39)	D2E	probably damaging	Het
Grm1	A	T	10: 10,595,711 (GRCm39)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,403,368 (GRCm39)	L247P	probably benign	Het
Hgf	T	G	5: 16,818,783 (GRCm39)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,808,696 (GRCm39)	D719E	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itga9	T	C	9: 118,436,185 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,431,939 (GRCm39)	C16S	probably damaging	Het
Itgb1	G	T	8: 129,431,940 (GRCm39)	C16F	possibly damaging	Het
Kat14	A	G	2: 144,236,020 (GRCm39)	I251V	probably benign	Het
Kdsr	A	T	1: 106,662,271 (GRCm39)		probably null	Het
Kif12	T	A	4: 63,084,737 (GRCm39)	E527V	probably benign	Het
Larp1b	T	C	3: 40,987,909 (GRCm39)	S44P	probably damaging	Het
Lonp2	T	C	8: 87,399,700 (GRCm39)		probably benign	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrrc19	T	C	4: 94,529,187 (GRCm39)	S32G	probably benign	Het
Mdm2	G	A	10: 117,526,434 (GRCm39)	T335M	probably benign	Het
Mettl25	A	G	10: 105,615,493 (GRCm39)	Y504H	probably damaging	Het
Mill1	T	C	7: 17,979,572 (GRCm39)	I13T	probably benign	Het
Mmachc	T	A	4: 116,560,721 (GRCm39)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,339,413 (GRCm39)	I5L	probably benign	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Mtcl2	A	T	2: 156,869,557 (GRCm39)	M1026K	probably benign	Het
Mtmr11	A	G	3: 96,075,429 (GRCm39)	T370A	probably benign	Het
Nmi	T	C	2: 51,848,989 (GRCm39)	I34V	possibly damaging	Het
Obscn	A	T	11: 58,926,901 (GRCm39)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,047,822 (GRCm39)	I24T	probably benign	Het
Omp	G	T	7: 97,794,566 (GRCm39)	D20E	probably benign	Het
Or2ag19	A	G	7: 106,444,403 (GRCm39)	Y195C	possibly damaging	Het
Or52e8b	A	G	7: 104,673,767 (GRCm39)	V140A	probably benign	Het
Or5b120	C	T	19: 13,480,121 (GRCm39)	T138M	probably benign	Het
Or6c69	A	G	10: 129,747,550 (GRCm39)	V199A	probably benign	Het
Otog	A	G	7: 45,933,332 (GRCm39)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,607,462 (GRCm39)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,299,808 (GRCm39)	I481V	probably benign	Het
Rbp3	A	T	14: 33,677,749 (GRCm39)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,781,525 (GRCm39)	D125G	probably benign	Het
Scn11a	A	G	9: 119,598,873 (GRCm39)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,911,830 (GRCm39)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,087,806 (GRCm39)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,791,173 (GRCm39)	V8I	probably benign	Het
Spen	T	C	4: 141,215,335 (GRCm39)	D499G	unknown	Het
Stk32c	A	G	7: 138,698,931 (GRCm39)		probably null	Het
Tars1	A	G	15: 11,388,261 (GRCm39)	V485A	probably benign	Het
Tcerg1l	A	G	7: 137,963,496 (GRCm39)	L258P	probably damaging	Het
Tmc2	A	T	2: 130,089,880 (GRCm39)	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,282,444 (GRCm39)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,523,525 (GRCm39)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,954,715 (GRCm39)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,996,608 (GRCm39)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,612,254 (GRCm39)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,888,699 (GRCm39)	V24A	probably benign	Het
Usp30	T	C	5: 114,251,022 (GRCm39)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,783,479 (GRCm39)		probably benign	Het
Vmn2r81	C	A	10: 79,128,858 (GRCm39)	T583N	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,687,315 (GRCm39)	V239L	probably benign	Het
Wdr17	C	T	8: 55,156,942 (GRCm39)		probably benign	Het
Zfhx4	A	C	3: 5,306,789 (GRCm39)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,160,184 (GRCm39)		probably null	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
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

PCR Primer
(F):5'- CCAAACACTTAGAACCAGGGATGAAGAC -3'
(R):5'- GCTGGTGGCAAGCTGCACA -3'

Sequencing Primer
(F):5'- caccccccctatctccc -3'
(R):5'- GGCAAGCTGCACATCCTTAG -3'

Posted On

2014-04-24