Mutagenetix > Incidental Mutation

Incidental Mutation 'R2411:Agbl1'

476298

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

040376-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2411 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75879635-76774446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76369898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 666 (T666A)

Ref Sequence

ENSEMBL: ENSMUSP00000103066 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107442
AA Change: T666A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: T666A

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: T918A

SMART Domains

Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: T918A

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

98% (42/43)

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
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
4933402D24Rik	A	G	1: 63,795,373 (GRCm39)		probably benign	Het
9030612E09Rik	G	T	10: 43,050,796 (GRCm39)	R30L	possibly damaging	Het
Aadacl2	A	G	3: 59,924,844 (GRCm39)	D137G	possibly damaging	Het
Acad11	T	G	9: 103,963,222 (GRCm39)		probably benign	Het
Acap1	A	T	11: 69,776,311 (GRCm39)	N229K	probably damaging	Het
Btbd16	T	C	7: 130,391,954 (GRCm39)	F160L	probably damaging	Het
Clock	A	C	5: 76,379,360 (GRCm39)	H525Q	probably benign	Het
Col6a1	G	T	10: 76,546,922 (GRCm39)	Q767K	unknown	Het
Creld1	A	G	6: 113,466,737 (GRCm39)	H240R	probably benign	Het
Dlg4	G	A	11: 69,932,755 (GRCm39)		probably null	Het
Fam204a	A	T	19: 60,187,870 (GRCm39)	*237R	probably null	Het
Filip1	T	A	9: 79,805,715 (GRCm39)	N13I	probably damaging	Het
Gm14295	G	T	2: 176,499,206 (GRCm39)	A19S	probably benign	Het
Hddc3	A	T	7: 79,993,341 (GRCm39)	Q56L	probably damaging	Het
Hes6	A	C	1: 91,340,986 (GRCm39)		probably null	Het
Hormad1	A	G	3: 95,487,326 (GRCm39)	D270G	probably benign	Het
Ifitm1	A	G	7: 140,549,711 (GRCm39)		probably null	Het
Igbp1b	A	C	6: 138,634,871 (GRCm39)	V191G	probably damaging	Het
Impg2	T	A	16: 56,072,517 (GRCm39)	N316K	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Lilra6	T	C	7: 3,914,453 (GRCm39)	Y566C	probably damaging	Het
Map4k4	A	G	1: 40,046,656 (GRCm39)	D775G	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Mybpc2	G	A	7: 44,155,662 (GRCm39)	R864W	probably damaging	Het
Nckap1l	C	A	15: 103,391,995 (GRCm39)	P810Q	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or14c44	T	C	7: 86,062,290 (GRCm39)	V281A	possibly damaging	Het
Or1ad1	A	G	11: 50,875,758 (GRCm39)	T77A	probably damaging	Het
Or4a27	C	T	2: 88,559,741 (GRCm39)	M67I	probably benign	Het
Ppp2r3c	T	C	12: 55,345,269 (GRCm39)	K73R	probably benign	Het
Ptpru	A	T	4: 131,498,780 (GRCm39)	F1311Y	probably damaging	Het
Ror2	G	A	13: 53,284,980 (GRCm39)	P144L	possibly damaging	Het
Setd2	A	G	9: 110,379,497 (GRCm39)	E1104G	possibly damaging	Het
St14	G	A	9: 31,019,530 (GRCm39)	T97I	probably benign	Het
Stag3	A	G	5: 138,281,290 (GRCm39)		probably benign	Het
Sytl3	T	C	17: 7,003,892 (GRCm39)	S326P	probably damaging	Het
Tor1b	G	T	2: 30,845,824 (GRCm39)	S167I	probably damaging	Het
Ttn	T	A	2: 76,568,359 (GRCm39)	E27511D	probably damaging	Het
Uso1	T	A	5: 92,306,258 (GRCm39)		probably benign	Het
Vmn1r10	G	T	6: 57,091,124 (GRCm39)	V239F	probably benign	Het
Vps35l	G	C	7: 118,391,818 (GRCm39)	A410P	probably damaging	Het
Zfp160	C	T	17: 21,246,007 (GRCm39)	R186C	possibly damaging	Het
Zfp869	A	G	8: 70,159,179 (GRCm39)	C465R	probably damaging	Het
Zfp957	T	C	14: 79,451,782 (GRCm39)	K6E	unknown	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
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

Predicted Primers

Posted On

2017-05-11