Mutagenetix > Incidental Mutation

Incidental Mutation 'R8704:Agbl1'

679806

Institutional Source

Beutler Lab

Gene Symbol

Agbl1

Ensembl Gene

ENSMUSG00000025754

Gene Name

ATP/GTP binding protein-like 1

Synonyms

Nna1-l1, Ccp4, EG244071

MMRRC Submission

068558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8704 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75879635-76774446 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 76239302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026854] [ENSMUST00000107442] [ENSMUST00000156166]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026854

SMART Domains

Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
Pfam:Peptidase_M14	493	631	4.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107442

SMART Domains

Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
Pfam:Peptidase_M14	494	754	3.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156166

SMART Domains

Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754

Domain	Start	End	E-Value	Type
low complexity region	254	270	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

98% (39/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
PHENOTYPE: 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

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,773,489 (GRCm39)	Q628R	possibly damaging	Het
Brf2	A	G	8: 27,618,499 (GRCm39)	V35A	possibly damaging	Het
Chtf8	A	C	8: 107,612,672 (GRCm39)	M89R	probably benign	Het
Copa	A	G	1: 171,931,693 (GRCm39)	I315V	probably benign	Het
Csmd2	G	A	4: 128,091,147 (GRCm39)	E229K		Het
Etf1	T	C	18: 35,039,139 (GRCm39)	E376G	probably damaging	Het
Fat2	T	A	11: 55,172,137 (GRCm39)	I2859F	probably damaging	Het
Foxp1	C	G	6: 98,993,507 (GRCm39)	Q132H	unknown	Het
Gal3st3	T	C	19: 5,352,663 (GRCm39)	V30A	probably benign	Het
Gars1	C	T	6: 55,040,215 (GRCm39)	R381C	probably damaging	Het
Gjd3	C	T	11: 98,873,445 (GRCm39)	R133H	probably damaging	Het
Haspin	T	C	11: 73,028,828 (GRCm39)	N87S	probably benign	Het
Hcrt	A	T	11: 100,652,752 (GRCm39)		probably benign	Het
Heatr6	T	A	11: 83,668,104 (GRCm39)	M866K	probably benign	Het
Igf1r	T	C	7: 67,819,802 (GRCm39)		probably benign	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Lypd5	A	G	7: 24,050,982 (GRCm39)	H31R	possibly damaging	Het
Mib2	A	G	4: 155,743,620 (GRCm39)	M275T	possibly damaging	Het
Mmp19	G	A	10: 128,634,703 (GRCm39)	V440I	probably benign	Het
Nefm	T	C	14: 68,358,510 (GRCm39)	E508G	unknown	Het
Nlrp4a	A	T	7: 26,156,563 (GRCm39)	I763L	probably benign	Het
Or5p61	A	T	7: 107,758,711 (GRCm39)	V123D	possibly damaging	Het
Or9g4	T	A	2: 85,504,562 (GRCm39)	H311L		Het
Pcdhb1	T	A	18: 37,399,402 (GRCm39)	V451D	possibly damaging	Het
Pfkfb2	T	C	1: 130,625,780 (GRCm39)	N467D	probably benign	Het
Ptprc	G	A	1: 138,043,362 (GRCm39)	T63I	probably benign	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Rhobtb2	G	A	14: 70,031,373 (GRCm39)	P584L	probably damaging	Het
Rhoc	G	C	3: 104,699,342 (GRCm39)	A44P	probably damaging	Het
Sardh	T	C	2: 27,120,477 (GRCm39)	E435G	possibly damaging	Het
Stfa1	A	T	16: 36,105,536 (GRCm39)	D89V	probably damaging	Het
Tec	T	C	5: 72,926,105 (GRCm39)	K316E	probably damaging	Het
Tsen15	A	T	1: 152,247,541 (GRCm39)	Y150*	probably null	Het
Ugt1a5	T	C	1: 88,094,087 (GRCm39)	I105T	probably benign	Het
Usp25	A	G	16: 76,856,178 (GRCm39)	D257G	probably benign	Het
Vmn1r195	A	G	13: 22,463,058 (GRCm39)	Y176C	possibly damaging	Het
Wdr31	G	A	4: 62,380,442 (GRCm39)	A87V	probably benign	Het
Wwp2	A	T	8: 108,212,228 (GRCm39)	T177S	probably benign	Het
Zfp28	T	C	7: 6,397,637 (GRCm39)	C691R	probably damaging	Het

Other mutations in Agbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Agbl1	APN	7	76,071,628 (GRCm39)	missense	probably benign	0.01
IGL01650:Agbl1	APN	7	76,070,067 (GRCm39)	missense	probably damaging	1.00
IGL02244:Agbl1	APN	7	76,416,120 (GRCm39)	missense	probably damaging	1.00
IGL03088:Agbl1	APN	7	76,369,890 (GRCm39)	missense	probably benign	0.12
IGL03143:Agbl1	APN	7	76,069,793 (GRCm39)	nonsense	probably null
IGL03306:Agbl1	APN	7	76,239,252 (GRCm39)	missense	probably damaging	1.00
R0001:Agbl1	UTSW	7	76,069,611 (GRCm39)	missense	probably damaging	0.98
R0045:Agbl1	UTSW	7	76,348,588 (GRCm39)	critical splice donor site	probably null
R0045:Agbl1	UTSW	7	76,348,588 (GRCm39)	critical splice donor site	probably null
R0541:Agbl1	UTSW	7	76,058,993 (GRCm39)	missense	probably benign	0.22
R1889:Agbl1	UTSW	7	76,239,129 (GRCm39)	missense	probably damaging	1.00
R2089:Agbl1	UTSW	7	76,239,248 (GRCm39)	missense	probably damaging	0.98
R2091:Agbl1	UTSW	7	76,239,248 (GRCm39)	missense	probably damaging	0.98
R2091:Agbl1	UTSW	7	76,239,248 (GRCm39)	missense	probably damaging	0.98
R2127:Agbl1	UTSW	7	76,069,628 (GRCm39)	missense	possibly damaging	0.64
R2148:Agbl1	UTSW	7	76,064,465 (GRCm39)	splice site	probably null
R2229:Agbl1	UTSW	7	76,083,126 (GRCm39)	missense	probably benign	0.43
R2243:Agbl1	UTSW	7	76,068,470 (GRCm39)	missense	possibly damaging	0.93
R2255:Agbl1	UTSW	7	76,071,932 (GRCm39)	missense	probably damaging	1.00
R2411:Agbl1	UTSW	7	76,369,898 (GRCm39)	missense	probably damaging	1.00
R2426:Agbl1	UTSW	7	76,071,650 (GRCm39)	missense	probably damaging	1.00
R2508:Agbl1	UTSW	7	76,239,298 (GRCm39)	critical splice donor site	probably null
R2910:Agbl1	UTSW	7	76,069,586 (GRCm39)	missense	probably benign	0.13
R2919:Agbl1	UTSW	7	76,064,406 (GRCm39)	missense	probably damaging	1.00
R3056:Agbl1	UTSW	7	76,416,232 (GRCm39)	missense	possibly damaging	0.60
R3153:Agbl1	UTSW	7	76,369,944 (GRCm39)	missense	probably damaging	1.00
R3770:Agbl1	UTSW	7	76,075,677 (GRCm39)	critical splice donor site	probably null
R3825:Agbl1	UTSW	7	76,069,715 (GRCm39)	missense	probably damaging	0.99
R4632:Agbl1	UTSW	7	76,063,433 (GRCm39)	missense	probably benign	0.00
R4857:Agbl1	UTSW	7	76,069,583 (GRCm39)	missense	probably benign	0.03
R4943:Agbl1	UTSW	7	76,069,764 (GRCm39)	missense	probably benign	0.01
R5055:Agbl1	UTSW	7	76,063,325 (GRCm39)	missense	probably damaging	1.00
R5071:Agbl1	UTSW	7	76,071,665 (GRCm39)	missense	probably damaging	1.00
R5072:Agbl1	UTSW	7	76,071,665 (GRCm39)	missense	probably damaging	1.00
R5074:Agbl1	UTSW	7	76,071,665 (GRCm39)	missense	probably damaging	1.00
R5095:Agbl1	UTSW	7	76,369,881 (GRCm39)	missense	probably damaging	0.96
R5133:Agbl1	UTSW	7	76,071,904 (GRCm39)	missense	probably benign	0.21
R5576:Agbl1	UTSW	7	75,984,985 (GRCm39)	missense	probably benign	0.03
R5665:Agbl1	UTSW	7	76,239,251 (GRCm39)	missense	probably damaging	1.00
R5849:Agbl1	UTSW	7	75,974,846 (GRCm39)	missense	probably benign	0.35
R5924:Agbl1	UTSW	7	76,058,982 (GRCm39)	missense	probably benign	0.12
R6044:Agbl1	UTSW	7	75,967,868 (GRCm39)	missense	possibly damaging	0.56
R6117:Agbl1	UTSW	7	76,348,534 (GRCm39)	missense	probably damaging	1.00
R6144:Agbl1	UTSW	7	76,069,832 (GRCm39)	missense	probably benign	0.02
R6368:Agbl1	UTSW	7	76,069,578 (GRCm39)	missense	probably benign	0.25
R6806:Agbl1	UTSW	7	76,075,669 (GRCm39)	missense	probably damaging	1.00
R7455:Agbl1	UTSW	7	76,074,503 (GRCm39)	missense	unknown
R7459:Agbl1	UTSW	7	76,069,814 (GRCm39)	missense	not run
R7485:Agbl1	UTSW	7	76,239,241 (GRCm39)	missense	unknown
R7516:Agbl1	UTSW	7	76,075,669 (GRCm39)	missense	probably damaging	1.00
R7539:Agbl1	UTSW	7	76,075,677 (GRCm39)	critical splice donor site	probably null
R7561:Agbl1	UTSW	7	76,348,509 (GRCm39)	missense	unknown
R7630:Agbl1	UTSW	7	76,535,904 (GRCm39)	missense	unknown
R7655:Agbl1	UTSW	7	76,059,080 (GRCm39)	missense
R7656:Agbl1	UTSW	7	76,059,080 (GRCm39)	missense
R7658:Agbl1	UTSW	7	76,416,117 (GRCm39)	missense	unknown
R7681:Agbl1	UTSW	7	76,094,649 (GRCm39)	missense	unknown
R7694:Agbl1	UTSW	7	76,348,513 (GRCm39)	missense	unknown
R7773:Agbl1	UTSW	7	76,348,585 (GRCm39)	missense	unknown
R7981:Agbl1	UTSW	7	76,094,588 (GRCm39)	missense	unknown
R8208:Agbl1	UTSW	7	76,369,916 (GRCm39)	missense	unknown
R8317:Agbl1	UTSW	7	76,071,929 (GRCm39)	missense	unknown
R8406:Agbl1	UTSW	7	76,068,415 (GRCm39)	missense
R8432:Agbl1	UTSW	7	76,774,434 (GRCm39)	missense	unknown
R8830:Agbl1	UTSW	7	75,985,059 (GRCm39)	missense
R8985:Agbl1	UTSW	7	75,969,904 (GRCm39)	missense
R9113:Agbl1	UTSW	7	76,239,225 (GRCm39)	missense	unknown
R9170:Agbl1	UTSW	7	75,985,069 (GRCm39)	missense
R9229:Agbl1	UTSW	7	76,774,270 (GRCm39)	missense	unknown
R9255:Agbl1	UTSW	7	76,416,150 (GRCm39)	missense	unknown
R9391:Agbl1	UTSW	7	76,071,602 (GRCm39)	missense	unknown
R9646:Agbl1	UTSW	7	76,075,648 (GRCm39)	missense	unknown
Z1088:Agbl1	UTSW	7	76,069,652 (GRCm39)	missense	probably benign	0.00
Z1176:Agbl1	UTSW	7	76,068,433 (GRCm39)	missense
Z1177:Agbl1	UTSW	7	76,369,954 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGATCACAGCCCGAGTTCAC -3'
(R):5'- CAAATGAAGCACTGGACTAGGTTAG -3'

Sequencing Primer
(F):5'- TTCACCCAGGAGAGAGCAATGC -3'
(R):5'- CCATGAGACATACAAATATGCATGG -3'

Posted On

2021-08-30