Mutagenetix > Incidental Mutation

Incidental Mutation 'R5576:Agbl1'

437210

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

043131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5576 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75879635-76774446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75984985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 134 (T134M)

Ref Sequence

ENSEMBL: ENSMUSP00000119721 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000156166
AA Change: T134M

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: T134M

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.5%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,570 (GRCm39)	T96I	probably benign	Het
Add2	G	T	6: 86,084,457 (GRCm39)		probably null	Het
Agfg1	T	A	1: 82,848,445 (GRCm39)	S32T	probably benign	Het
Ankrd17	A	C	5: 90,391,083 (GRCm39)	S2087A	probably benign	Het
Apob	A	T	12: 8,048,662 (GRCm39)	E1012V	probably damaging	Het
Baiap2	T	A	11: 119,887,737 (GRCm39)	V297E	probably benign	Het
BC034090	T	G	1: 155,117,214 (GRCm39)	K301N	probably benign	Het
Bhlha9	T	C	11: 76,563,595 (GRCm39)	I74T	probably damaging	Het
Btnl9	T	C	11: 49,069,712 (GRCm39)	H189R	probably benign	Het
Ccdc122	G	A	14: 77,329,317 (GRCm39)	M123I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dnah9	T	C	11: 65,724,922 (GRCm39)		probably null	Het
Dnaja2	A	T	8: 86,266,033 (GRCm39)	L351I	possibly damaging	Het
Efcab6	C	A	15: 83,834,201 (GRCm39)	S469I	probably benign	Het
Esp15	C	A	17: 39,953,564 (GRCm39)	T17K	probably damaging	Het
Fads1	A	G	19: 10,163,238 (GRCm39)	T172A	probably benign	Het
Fbp2	A	T	13: 62,985,005 (GRCm39)	D305E	probably benign	Het
Golga4	A	G	9: 118,382,602 (GRCm39)	T541A	probably benign	Het
Herc3	T	C	6: 58,865,710 (GRCm39)	Y768H	probably benign	Het
Kmt2a	A	G	9: 44,753,931 (GRCm39)	V514A	possibly damaging	Het
Melk	A	G	4: 44,312,255 (GRCm39)	E141G	probably null	Het
Nln	A	G	13: 104,195,338 (GRCm39)	Y245H	probably damaging	Het
Nrap	C	T	19: 56,310,414 (GRCm39)	R1563H	probably damaging	Het
Or7g34	T	A	9: 19,478,369 (GRCm39)	M101L	probably benign	Het
Or8b44	A	C	9: 38,410,204 (GRCm39)	K80Q	probably damaging	Het
Pde4b	T	A	4: 102,287,359 (GRCm39)	I34N	probably damaging	Het
Pex11g	A	G	8: 3,515,875 (GRCm39)	S53P	probably damaging	Het
Pole	A	T	5: 110,459,931 (GRCm39)	K1112*	probably null	Het
Ppfia4	T	G	1: 134,250,788 (GRCm39)	D184A	possibly damaging	Het
Rpp30	T	A	19: 36,079,251 (GRCm39)	D216E	probably benign	Het
Sbno2	C	T	10: 79,903,171 (GRCm39)	A398T	probably damaging	Het
Sbp	T	A	17: 24,164,552 (GRCm39)	S94T	probably benign	Het
Skp1	T	G	11: 52,133,415 (GRCm39)	D33E	possibly damaging	Het
Slc17a8	A	G	10: 89,433,364 (GRCm39)	W220R	probably damaging	Het
Slfn9	A	T	11: 82,872,258 (GRCm39)	M826K	probably benign	Het
Snx2	A	G	18: 53,343,822 (GRCm39)	K322E	probably benign	Het
Spata32	T	A	11: 103,100,653 (GRCm39)	N38I	possibly damaging	Het
Sycp1	T	C	3: 102,726,218 (GRCm39)	R969G	probably damaging	Het
Trgc2	T	C	13: 19,489,301 (GRCm39)	I144V	probably benign	Het
Trpc1	A	G	9: 95,603,377 (GRCm39)	L385S	probably damaging	Het
Vmn2r105	C	T	17: 20,444,836 (GRCm39)		probably null	Het
Xrcc6	T	A	15: 81,906,693 (GRCm39)	D79E	probably damaging	Het
Zan	A	T	5: 137,426,744 (GRCm39)	C2467*	probably null	Het
Zfp26	A	G	9: 20,348,803 (GRCm39)	V587A	possibly damaging	Het
Zfp553	C	T	7: 126,835,875 (GRCm39)	R477C	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GGGAGAAACAGCTACCCTAC -3'
(R):5'- GCCACTGCACATCTATAAGGAAG -3'

Sequencing Primer
(F):5'- CCTACTCACTAGGCTGTTAAGAGAG -3'
(R):5'- TGCACATCTATAAGGAAGAAGGCATC -3'

Posted On

2016-10-26