Mutagenetix > Incidental Mutation

Incidental Mutation 'R6806:Agbl1'

537483

Institutional Source

Beutler Lab

Gene Symbol

Agbl1

Ensembl Gene

ENSMUSG00000025754

Gene Name

ATP/GTP binding protein-like 1

Synonyms

Nna1-l1, EG244071

MMRRC Submission

044919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76229887-77124698 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76425921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 437 (Y437C)

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: Y437C

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

SMART Domains

Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: Y437C

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: Y437C

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

SMART Domains

Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: Y437C

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: Y689C

SMART Domains

Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: Y689C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (39/41)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,186,858 (GRCm38)	Q520R	possibly damaging	Het
9130019O22Rik	T	C	7: 127,386,594 (GRCm38)		probably benign	Het
Apba2	T	A	7: 64,695,459 (GRCm38)	D132E	probably damaging	Het
Atp13a4	A	G	16: 29,469,280 (GRCm38)	S258P	probably damaging	Het
Bach2	T	A	4: 32,575,301 (GRCm38)	M509K	possibly damaging	Het
Ccdc186	T	A	19: 56,800,129 (GRCm38)	K549N	probably damaging	Het
Chrna3	C	T	9: 55,015,810 (GRCm38)	R238H	probably damaging	Het
Cntnap5b	G	A	1: 99,940,649 (GRCm38)	C30Y	probably damaging	Het
Dnah11	T	C	12: 117,987,676 (GRCm38)		probably null	Het
Ebna1bp2	T	C	4: 118,620,977 (GRCm38)	C16R	probably benign	Het
Gm884	T	C	11: 103,621,124 (GRCm38)	E6G	unknown	Het
Grin2b	A	G	6: 135,774,828 (GRCm38)	Y579H	possibly damaging	Het
Ifi206	C	T	1: 173,481,571 (GRCm38)	M286I	probably benign	Het
Itpr1	G	A	6: 108,515,947 (GRCm38)	V2478I	probably benign	Het
Ltbp2	T	C	12: 84,809,238 (GRCm38)	S744G	possibly damaging	Het
Magi3	T	A	3: 104,046,969 (GRCm38)	N684I	possibly damaging	Het
Muc16	A	G	9: 18,537,910 (GRCm38)		probably null	Het
Nphp4	G	T	4: 152,538,101 (GRCm38)	Q614H	probably benign	Het
Nprl3	A	G	11: 32,267,509 (GRCm38)	I11T	probably damaging	Het
Olfr635	G	T	7: 103,979,564 (GRCm38)	R124L	possibly damaging	Het
Pank2	T	C	2: 131,262,707 (GRCm38)		probably benign	Het
Prss58	A	T	6: 40,897,732 (GRCm38)	N58K	probably damaging	Het
Ptk7	C	T	17: 46,573,528 (GRCm38)	V759M	probably damaging	Het
Rassf7	A	G	7: 141,216,809 (GRCm38)	T28A	probably damaging	Het
Rbm45	C	T	2: 76,380,460 (GRCm38)	T445I	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Rsrc2	T	G	5: 123,739,531 (GRCm38)		probably benign	Het
Saxo2	A	T	7: 82,635,032 (GRCm38)	I206N	probably benign	Het
Sh3d19	T	A	3: 86,104,333 (GRCm38)	Y409N	probably damaging	Het
Spata31d1a	A	T	13: 59,703,218 (GRCm38)	N365K	probably benign	Het
Stkld1	C	G	2: 26,943,910 (GRCm38)	N136K	probably benign	Het
Tenm4	A	G	7: 96,811,959 (GRCm38)	D904G	possibly damaging	Het
Tmf1	G	A	6: 97,161,447 (GRCm38)	R837*	probably null	Het
Tnn	T	C	1: 160,120,708 (GRCm38)	T812A	possibly damaging	Het
Trgj4	T	C	13: 19,342,195 (GRCm38)	L15P	probably damaging	Het
Trp53bp1	T	C	2: 121,228,666 (GRCm38)	I905V	probably damaging	Het
Ubr3	T	C	2: 69,955,964 (GRCm38)		probably benign	Het
Zfp446	T	C	7: 12,979,116 (GRCm38)	L27P	probably damaging	Het
Zfp719	A	G	7: 43,586,385 (GRCm38)	D57G	possibly damaging	Het
Zfp978	G	A	4: 147,390,827 (GRCm38)	R277K	probably benign	Het

Other mutations in Agbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Agbl1	APN	7	76,421,880 (GRCm38)	missense	probably benign	0.01
IGL01650:Agbl1	APN	7	76,420,319 (GRCm38)	missense	probably damaging	1.00
IGL02244:Agbl1	APN	7	76,766,372 (GRCm38)	missense	probably damaging	1.00
IGL03088:Agbl1	APN	7	76,720,142 (GRCm38)	missense	probably benign	0.12
IGL03143:Agbl1	APN	7	76,420,045 (GRCm38)	nonsense	probably null
IGL03306:Agbl1	APN	7	76,589,504 (GRCm38)	missense	probably damaging	1.00
R0001:Agbl1	UTSW	7	76,419,863 (GRCm38)	missense	probably damaging	0.98
R0045:Agbl1	UTSW	7	76,698,840 (GRCm38)	critical splice donor site	probably null
R0045:Agbl1	UTSW	7	76,698,840 (GRCm38)	critical splice donor site	probably null
R0541:Agbl1	UTSW	7	76,409,245 (GRCm38)	missense	probably benign	0.22
R1889:Agbl1	UTSW	7	76,589,381 (GRCm38)	missense	probably damaging	1.00
R2089:Agbl1	UTSW	7	76,589,500 (GRCm38)	missense	probably damaging	0.98
R2091:Agbl1	UTSW	7	76,589,500 (GRCm38)	missense	probably damaging	0.98
R2091:Agbl1	UTSW	7	76,589,500 (GRCm38)	missense	probably damaging	0.98
R2127:Agbl1	UTSW	7	76,419,880 (GRCm38)	missense	possibly damaging	0.64
R2148:Agbl1	UTSW	7	76,414,717 (GRCm38)	splice site	probably null
R2229:Agbl1	UTSW	7	76,433,378 (GRCm38)	missense	probably benign	0.43
R2243:Agbl1	UTSW	7	76,418,722 (GRCm38)	missense	possibly damaging	0.93
R2255:Agbl1	UTSW	7	76,422,184 (GRCm38)	missense	probably damaging	1.00
R2411:Agbl1	UTSW	7	76,720,150 (GRCm38)	missense	probably damaging	1.00
R2426:Agbl1	UTSW	7	76,421,902 (GRCm38)	missense	probably damaging	1.00
R2508:Agbl1	UTSW	7	76,589,550 (GRCm38)	critical splice donor site	probably null
R2910:Agbl1	UTSW	7	76,419,838 (GRCm38)	missense	probably benign	0.13
R2919:Agbl1	UTSW	7	76,414,658 (GRCm38)	missense	probably damaging	1.00
R3056:Agbl1	UTSW	7	76,766,484 (GRCm38)	missense	possibly damaging	0.60
R3153:Agbl1	UTSW	7	76,720,196 (GRCm38)	missense	probably damaging	1.00
R3770:Agbl1	UTSW	7	76,425,929 (GRCm38)	critical splice donor site	probably null
R3825:Agbl1	UTSW	7	76,419,967 (GRCm38)	missense	probably damaging	0.99
R4632:Agbl1	UTSW	7	76,413,685 (GRCm38)	missense	probably benign	0.00
R4857:Agbl1	UTSW	7	76,419,835 (GRCm38)	missense	probably benign	0.03
R4943:Agbl1	UTSW	7	76,420,016 (GRCm38)	missense	probably benign	0.01
R5055:Agbl1	UTSW	7	76,413,577 (GRCm38)	missense	probably damaging	1.00
R5071:Agbl1	UTSW	7	76,421,917 (GRCm38)	missense	probably damaging	1.00
R5072:Agbl1	UTSW	7	76,421,917 (GRCm38)	missense	probably damaging	1.00
R5074:Agbl1	UTSW	7	76,421,917 (GRCm38)	missense	probably damaging	1.00
R5095:Agbl1	UTSW	7	76,720,133 (GRCm38)	missense	probably damaging	0.96
R5133:Agbl1	UTSW	7	76,422,156 (GRCm38)	missense	probably benign	0.21
R5576:Agbl1	UTSW	7	76,335,237 (GRCm38)	missense	probably benign	0.03
R5665:Agbl1	UTSW	7	76,589,503 (GRCm38)	missense	probably damaging	1.00
R5849:Agbl1	UTSW	7	76,325,098 (GRCm38)	missense	probably benign	0.35
R5924:Agbl1	UTSW	7	76,409,234 (GRCm38)	missense	probably benign	0.12
R6044:Agbl1	UTSW	7	76,318,120 (GRCm38)	missense	possibly damaging	0.56
R6117:Agbl1	UTSW	7	76,698,786 (GRCm38)	missense	probably damaging	1.00
R6144:Agbl1	UTSW	7	76,420,084 (GRCm38)	missense	probably benign	0.02
R6368:Agbl1	UTSW	7	76,419,830 (GRCm38)	missense	probably benign	0.25
R7455:Agbl1	UTSW	7	76,424,755 (GRCm38)	missense	unknown
R7459:Agbl1	UTSW	7	76,420,066 (GRCm38)	missense	not run
R7485:Agbl1	UTSW	7	76,589,493 (GRCm38)	missense	unknown
R7516:Agbl1	UTSW	7	76,425,921 (GRCm38)	missense	probably damaging	1.00
R7539:Agbl1	UTSW	7	76,425,929 (GRCm38)	critical splice donor site	probably null
R7561:Agbl1	UTSW	7	76,698,761 (GRCm38)	missense	unknown
R7630:Agbl1	UTSW	7	76,886,156 (GRCm38)	missense	unknown
R7655:Agbl1	UTSW	7	76,409,332 (GRCm38)	missense
R7656:Agbl1	UTSW	7	76,409,332 (GRCm38)	missense
R7658:Agbl1	UTSW	7	76,766,369 (GRCm38)	missense	unknown
R7681:Agbl1	UTSW	7	76,444,901 (GRCm38)	missense	unknown
R7694:Agbl1	UTSW	7	76,698,765 (GRCm38)	missense	unknown
R7773:Agbl1	UTSW	7	76,698,837 (GRCm38)	missense	unknown
R7981:Agbl1	UTSW	7	76,444,840 (GRCm38)	missense	unknown
R8208:Agbl1	UTSW	7	76,720,168 (GRCm38)	missense	unknown
R8317:Agbl1	UTSW	7	76,422,181 (GRCm38)	missense	unknown
R8406:Agbl1	UTSW	7	76,418,667 (GRCm38)	missense
R8432:Agbl1	UTSW	7	77,124,686 (GRCm38)	missense	unknown
R8704:Agbl1	UTSW	7	76,589,554 (GRCm38)	splice site	probably benign
R8830:Agbl1	UTSW	7	76,335,311 (GRCm38)	missense
R8985:Agbl1	UTSW	7	76,320,156 (GRCm38)	missense
R9113:Agbl1	UTSW	7	76,589,477 (GRCm38)	missense	unknown
R9170:Agbl1	UTSW	7	76,335,321 (GRCm38)	missense
R9229:Agbl1	UTSW	7	77,124,522 (GRCm38)	missense	unknown
R9255:Agbl1	UTSW	7	76,766,402 (GRCm38)	missense	unknown
R9391:Agbl1	UTSW	7	76,421,854 (GRCm38)	missense	unknown
R9646:Agbl1	UTSW	7	76,425,900 (GRCm38)	missense	unknown
Z1088:Agbl1	UTSW	7	76,419,904 (GRCm38)	missense	probably benign	0.00
Z1176:Agbl1	UTSW	7	76,418,685 (GRCm38)	missense
Z1177:Agbl1	UTSW	7	76,720,206 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAAAATGTGAGCCTTAACTCTTGC -3'
(R):5'- GTCAGGGGACTAATGCAAGTTC -3'

Sequencing Primer
(F):5'- CCTCATAAGGGCATCAGTGGTTAC -3'
(R):5'- GCAAACAAACAGGTTGTGG -3'

Posted On

2018-10-18