Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01567:Agbl1'

91017

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 #

IGL01567

Quality Score

Status

Chromosome

Chromosomal Location

75879635-76774446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76071628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 317 (S317G)

Ref Sequence

ENSEMBL: ENSMUSP00000026854 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026854
AA Change: S317G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: S317G

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
AA Change: S317G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: S317G

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: S569G

SMART Domains

Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: S569G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166190
AA Change: S555G

SMART Domains

Protein: ENSMUSP00000128342
Gene: ENSMUSG00000025754
AA Change: S555G

Domain	Start	End	E-Value	Type
low complexity region	286	302	N/A	INTRINSIC
Pfam:Peptidase_M14	737	871	7.4e-14	PFAM

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,300,087 (GRCm39)	T652A	probably benign	Het
Anxa9	G	A	3: 95,209,743 (GRCm39)		probably benign	Het
Bpifb4	T	A	2: 153,789,198 (GRCm39)		probably benign	Het
Bptf	A	G	11: 106,949,600 (GRCm39)	S2125P	probably damaging	Het
Capns2	C	A	8: 93,628,634 (GRCm39)	H174Q	probably benign	Het
Cd200	A	C	16: 45,215,054 (GRCm39)	L199R	probably damaging	Het
Clasp2	T	C	9: 113,709,164 (GRCm39)	V651A	probably damaging	Het
Cox18	G	A	5: 90,365,447 (GRCm39)	Q251*	probably null	Het
Depdc1a	T	C	3: 159,232,183 (GRCm39)	S645P	probably damaging	Het
Dio3	T	A	12: 110,245,861 (GRCm39)	C66S	possibly damaging	Het
Dock9	A	T	14: 121,890,496 (GRCm39)	L258Q	probably damaging	Het
Ghrhr	A	G	6: 55,361,108 (GRCm39)	D274G	probably damaging	Het
Gm5129	A	G	5: 29,940,862 (GRCm39)		probably benign	Het
Grb7	A	G	11: 98,345,776 (GRCm39)	N518S	probably damaging	Het
Kdm5b	G	A	1: 134,530,278 (GRCm39)	A430T	probably damaging	Het
Map10	C	A	8: 126,398,232 (GRCm39)	Q542K	probably benign	Het
Metap1	T	C	3: 138,168,150 (GRCm39)	T325A	probably damaging	Het
Ncan	A	T	8: 70,560,984 (GRCm39)	M661K	probably benign	Het
Or2f1b	T	C	6: 42,739,661 (GRCm39)	I225T	probably benign	Het
Or51h5	A	G	7: 102,577,623 (GRCm39)	I263V	probably benign	Het
Otog	T	C	7: 45,926,039 (GRCm39)		probably benign	Het
Pip4k2b	T	C	11: 97,620,387 (GRCm39)	D116G	probably damaging	Het
Rps15	T	A	10: 80,129,643 (GRCm39)	L86Q	probably benign	Het
Sfxn4	G	T	19: 60,842,336 (GRCm39)	T122K	probably damaging	Het
Slc4a3	T	C	1: 75,527,526 (GRCm39)	V165A	probably damaging	Het
Spmip7	A	G	11: 11,465,015 (GRCm39)	H122R	possibly damaging	Het
Synm	A	G	7: 67,384,980 (GRCm39)	V452A	probably damaging	Het
Tdpoz1	T	C	3: 93,578,013 (GRCm39)	H257R	possibly damaging	Het
Tmem26	A	G	10: 68,587,061 (GRCm39)	T170A	probably damaging	Het
Wdfy4	T	G	14: 32,873,618 (GRCm39)	E230D	probably benign	Het

Other mutations in Agbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-09