Mutagenetix > Incidental Mutation

Incidental Mutation 'R4857:Agbl1'

374060

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

042468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75879635-76774446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76069583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 372 (N372D)

Ref Sequence

ENSEMBL: ENSMUSP00000119721 (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: N120D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: N120D

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: N120D

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

SMART Domains

Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: N120D

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

probably benign
Transcript: ENSMUST00000156166
AA Change: N372D

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: N372D

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

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (115/119)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	C	T	15: 46,488,927 (GRCm39)		noncoding transcript	Het
Aasdh	A	T	5: 77,035,131 (GRCm39)	F428L	probably benign	Het
Abca13	A	G	11: 9,244,143 (GRCm39)	N2002S	probably benign	Het
Acot7	T	G	4: 152,322,211 (GRCm39)	F248V	possibly damaging	Het
Acsf2	A	G	11: 94,460,164 (GRCm39)	I396T	probably benign	Het
Ahctf1	A	T	1: 179,626,922 (GRCm39)		probably benign	Het
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Bcl7b	A	G	5: 135,202,033 (GRCm39)	*59W	probably null	Het
Bdh1	A	G	16: 31,266,366 (GRCm39)		probably null	Het
Bin3	A	G	14: 70,366,344 (GRCm39)	N69S	probably benign	Het
Bltp3b	A	T	10: 89,615,825 (GRCm39)	N156I	probably damaging	Het
Bsdc1	T	C	4: 129,365,685 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,253,863 (GRCm39)	V700A	probably damaging	Het
Calcr	T	C	6: 3,708,511 (GRCm39)	N225S	probably benign	Het
Cby2	C	T	14: 75,830,478 (GRCm39)	E8K	probably damaging	Het
Cdh23	A	G	10: 60,227,563 (GRCm39)	S1173P	probably damaging	Het
Cftr	C	T	6: 18,320,974 (GRCm39)	T1428M	possibly damaging	Het
Chd1l	T	C	3: 97,479,975 (GRCm39)	K591E	probably benign	Het
Chrd	C	T	16: 20,557,508 (GRCm39)	P709L	possibly damaging	Het
Ckap4	T	C	10: 84,369,352 (GRCm39)	R127G	possibly damaging	Het
Cnbd2	T	C	2: 156,209,485 (GRCm39)	F476S	probably benign	Het
Dclk3	T	C	9: 111,297,716 (GRCm39)	V420A	probably benign	Het
Dnah5	A	G	15: 28,345,953 (GRCm39)	D2431G	probably benign	Het
Duox1	T	A	2: 122,146,212 (GRCm39)	I10N	probably benign	Het
Ece2	T	A	16: 20,436,556 (GRCm39)	V126D	probably damaging	Het
Elfn1	T	C	5: 139,958,840 (GRCm39)	Y615H	probably damaging	Het
Epha1	T	C	6: 42,338,416 (GRCm39)	D720G	probably benign	Het
Fras1	A	G	5: 96,926,018 (GRCm39)	I3741V	probably benign	Het
Gm53	A	T	11: 96,142,562 (GRCm39)		noncoding transcript	Het
Grb10	G	T	11: 11,901,469 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,368,384 (GRCm39)	H568R	probably damaging	Het
Gsap	A	T	5: 21,492,797 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,299,496 (GRCm39)		probably benign	Het
Gstm1	T	C	3: 107,923,724 (GRCm39)	R94G	possibly damaging	Het
Gtf2ird1	A	G	5: 134,391,398 (GRCm39)	F866L	probably damaging	Het
Haao	T	A	17: 84,146,009 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,766,853 (GRCm39)	I805F	unknown	Het
Hemk1	A	T	9: 107,206,647 (GRCm39)		probably benign	Het
Il12rb1	A	T	8: 71,263,232 (GRCm39)	Y33F	possibly damaging	Het
Il19	T	A	1: 130,863,683 (GRCm39)	I103F	probably damaging	Het
Itpr1	A	G	6: 108,387,828 (GRCm39)	N1522S	probably benign	Het
Klhdc8a	A	G	1: 132,230,843 (GRCm39)	Y236C	probably damaging	Het
Klhl3	C	T	13: 58,166,620 (GRCm39)	G404S	probably damaging	Het
Large2	T	C	2: 92,196,979 (GRCm39)		probably benign	Het
Lgi1	C	A	19: 38,294,698 (GRCm39)	A490E	probably damaging	Het
Lmbr1	A	G	5: 29,528,807 (GRCm39)	L112P	probably damaging	Het
Lmo7	T	A	14: 102,124,784 (GRCm39)		probably null	Het
Lpin1	A	C	12: 16,613,631 (GRCm39)	I479S	possibly damaging	Het
Lrrc40	T	A	3: 157,771,866 (GRCm39)		probably benign	Het
Lrrc9	A	G	12: 72,546,466 (GRCm39)	N1218S	possibly damaging	Het
Map3k9	A	G	12: 81,771,401 (GRCm39)	V729A	probably benign	Het
Marf1	A	T	16: 13,946,475 (GRCm39)	Y1215*	probably null	Het
Moap1	T	A	12: 102,708,824 (GRCm39)	I242L	probably benign	Het
Mpo	A	G	11: 87,687,107 (GRCm39)	K218E	probably benign	Het
Mpz	C	T	1: 170,986,379 (GRCm39)	R98C	probably damaging	Het
Neb	T	G	2: 52,091,992 (GRCm39)	K5024T	probably damaging	Het
Nlrp4b	C	T	7: 10,449,225 (GRCm39)	T109I	probably benign	Het
Noc3l	T	A	19: 38,781,244 (GRCm39)		probably null	Het
Nosip	G	A	7: 44,726,102 (GRCm39)	V220I	probably benign	Het
Nyap1	A	C	5: 137,733,840 (GRCm39)	S398A	probably damaging	Het
Or12d17	A	G	17: 37,777,714 (GRCm39)	M206V	possibly damaging	Het
Or4a68	T	G	2: 89,269,967 (GRCm39)	I219L	probably damaging	Het
Or4f54	A	G	2: 111,123,488 (GRCm39)	N292D	possibly damaging	Het
Osbpl7	T	C	11: 96,947,495 (GRCm39)		probably benign	Het
Pard3	A	T	8: 128,050,535 (GRCm39)	Y199F	probably damaging	Het
Pcdha11	G	A	18: 37,144,505 (GRCm39)	V199I	probably benign	Het
Pcdhga8	A	T	18: 37,859,967 (GRCm39)	N341I	probably damaging	Het
Pcsk4	A	G	10: 80,160,873 (GRCm39)	S318P	probably damaging	Het
Phldb1	C	A	9: 44,607,389 (GRCm39)	R1272L	probably damaging	Het
Phlpp2	A	G	8: 110,603,642 (GRCm39)	T103A	probably damaging	Het
Pibf1	T	A	14: 99,423,937 (GRCm39)	Y503*	probably null	Het
Pkn1	A	T	8: 84,410,856 (GRCm39)		probably null	Het
Pramel22	A	T	4: 143,383,158 (GRCm39)	N20K	possibly damaging	Het
Ptprf	A	G	4: 118,074,394 (GRCm39)		probably benign	Het
Rbm19	C	A	5: 120,270,898 (GRCm39)		probably benign	Het
Rcan1	T	C	16: 92,262,794 (GRCm39)	D5G	possibly damaging	Het
Recql5	A	T	11: 115,819,038 (GRCm39)	L176Q	probably damaging	Het
Rev3l	T	A	10: 39,714,455 (GRCm39)	L2393Q	probably damaging	Het
Rp1	C	A	1: 4,422,539 (GRCm39)	K180N	probably damaging	Het
Rp1	T	A	1: 4,422,540 (GRCm39)	K180M	probably damaging	Het
Sdk1	T	C	5: 142,147,531 (GRCm39)	V1461A	probably benign	Het
Sdk2	A	T	11: 113,712,208 (GRCm39)	L1653*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint10	A	T	4: 112,603,830 (GRCm39)	V119D	possibly damaging	Het
Sncaip	T	C	18: 53,002,297 (GRCm39)	S273P	probably benign	Het
Sp1	T	G	15: 102,339,409 (GRCm39)	I449S	probably damaging	Het
Spata31h1	T	C	10: 82,119,682 (GRCm39)	T4443A	possibly damaging	Het
Spats2	T	C	15: 99,072,301 (GRCm39)	L78P	probably damaging	Het
Stambp	T	A	6: 83,533,348 (GRCm39)	N305I	probably benign	Het
Stim2	A	T	5: 54,275,888 (GRCm39)	S688C	probably damaging	Het
Sytl3	A	G	17: 7,003,980 (GRCm39)	N355S	probably damaging	Het
Taf4b	C	T	18: 14,937,635 (GRCm39)	A236V	probably null	Het
Tnfaip6	A	G	2: 51,941,086 (GRCm39)		probably null	Het
Trpc2	T	A	7: 101,733,176 (GRCm39)	S416T	probably benign	Het
Ttn	T	C	2: 76,569,210 (GRCm39)	T27228A	probably damaging	Het
Ush2a	T	A	1: 188,269,917 (GRCm39)	D1721E	probably benign	Het
Usp47	T	A	7: 111,681,759 (GRCm39)	H523Q	probably damaging	Het
Vmn1r8	A	T	6: 57,013,338 (GRCm39)	I130F	probably benign	Het
Vps13b	A	G	15: 35,456,800 (GRCm39)	S749G	probably benign	Het
Xrcc5	C	A	1: 72,365,424 (GRCm39)	T283K	possibly damaging	Het
Ydjc	A	G	16: 16,966,002 (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
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
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

PCR Primer
(F):5'- CGATTCATCCAAAGTCTCTTCTGAG -3'
(R):5'- GTTTTGAGGATGACGGTACACC -3'

Sequencing Primer
(F):5'- AGAGCGACTTTTGTGAGACTC -3'
(R):5'- GGTACACCGGACTTCCCTGTC -3'

Posted On

2016-03-01