Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03306:Agbl1'

416390

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agbl1

Ensembl Gene

ENSMUSG00000025754

Gene Name

ATP/GTP binding protein-like 1

Synonyms

Nna1-l1, Ccp4, EG244071

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03306

Quality Score

Status

Chromosome

Chromosomal Location

75879635-76774446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76239252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 584 (F584Y)

Ref Sequence

ENSEMBL: ENSMUSP00000103066 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026854
AA Change: F584Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: F584Y

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 damaging
Transcript: ENSMUST00000107442
AA Change: F584Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: F584Y

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

unknown
Transcript: ENSMUST00000156166
AA Change: F836Y

SMART Domains

Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: F836Y

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

Coding Region Coverage

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer2	C	A	14: 60,616,001 (GRCm39)	D65E	probably damaging	Het
Arhgap28	A	T	17: 68,159,930 (GRCm39)	L623Q	probably damaging	Het
Cep152	T	C	2: 125,447,328 (GRCm39)	T407A	possibly damaging	Het
Cmpk2	A	G	12: 26,521,442 (GRCm39)	D238G	possibly damaging	Het
Fam169a	C	A	13: 97,243,497 (GRCm39)	Q176K	possibly damaging	Het
Fbxo17	T	A	7: 28,434,782 (GRCm39)	I189N	probably damaging	Het
Gm5581	T	A	6: 131,145,044 (GRCm39)		noncoding transcript	Het
Gpcpd1	C	T	2: 132,375,993 (GRCm39)		probably null	Het
Lhx2	A	G	2: 38,244,628 (GRCm39)	Y123C	probably damaging	Het
Llgl1	C	A	11: 60,602,180 (GRCm39)	T741N	possibly damaging	Het
Macc1	A	G	12: 119,410,603 (GRCm39)	Q457R	probably benign	Het
Mthfd2l	A	G	5: 91,168,067 (GRCm39)	T321A	probably damaging	Het
Myo6	T	C	9: 80,153,837 (GRCm39)	F271S	probably damaging	Het
Ncoa6	A	G	2: 155,247,427 (GRCm39)	V1959A	probably benign	Het
Npsr1	A	G	9: 24,224,535 (GRCm39)	D304G	probably benign	Het
Nup205	T	C	6: 35,185,104 (GRCm39)	V841A	probably damaging	Het
Or10c1	A	G	17: 37,522,568 (GRCm39)	Y59H	probably damaging	Het
Or1j20	A	T	2: 36,760,537 (GRCm39)		probably benign	Het
Osbpl9	A	G	4: 109,029,529 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,353,194 (GRCm39)	N995D	possibly damaging	Het
Ptgs1	A	T	2: 36,127,717 (GRCm39)	H92L	probably damaging	Het
Rasd1	T	A	11: 59,855,181 (GRCm39)	I100F	possibly damaging	Het
Rbm26	T	C	14: 105,388,758 (GRCm39)	T378A	probably damaging	Het
Slc12a3	T	C	8: 95,078,386 (GRCm39)	S805P	possibly damaging	Het
Smarcal1	G	A	1: 72,665,625 (GRCm39)	V708I	probably benign	Het
Strn	A	G	17: 78,974,652 (GRCm39)	S408P	probably damaging	Het
Suclg1	A	G	6: 73,247,975 (GRCm39)	N232S	probably benign	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Ube3a	T	A	7: 58,935,895 (GRCm39)	L614Q	probably damaging	Het
Wrn	A	G	8: 33,826,149 (GRCm39)	L171P	probably damaging	Het
Zfp335	T	C	2: 164,737,904 (GRCm39)		probably benign	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
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
R8704:Agbl1	UTSW	7	76,239,302 (GRCm39)	splice site	probably benign
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

Posted On

2016-08-02