Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:Agbl1'

500558

Institutional Source

Beutler Lab

Gene Symbol

Agbl1

Ensembl Gene

ENSMUSG00000025754

Gene Name

ATP/GTP binding protein-like 1

Synonyms

Nna1-l1, EG244071

MMRRC Submission

040096-MU

Accession Numbers

Ncbi RefSeq: NM_001199224.1; MGI:3646469

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2091 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76229887-77124698 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76589500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 583 (V583M)

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: V583M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: V583M

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: V583M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: V583M

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: V835M

SMART Domains

Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: V835M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166190
AA Change: V821M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128342
Gene: ENSMUSG00000025754
AA Change: V821M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,517,546	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,376,067	K197R	probably benign	Het
4932438A13Rik	C	T	3: 36,988,256	T2797I	probably damaging	Het
4932438A13Rik	T	C	3: 36,953,970	V1725A	probably damaging	Het
9130011E15Rik	A	T	19: 45,952,680	L300Q	probably damaging	Het
AA986860	T	C	1: 130,743,169	L376P	probably benign	Het
Adamts10	T	C	17: 33,551,192		probably null	Het
Adamts7	T	C	9: 90,188,440		probably null	Het
Adgrl1	T	C	8: 83,934,464	I862T	probably damaging	Het
Apba2	T	A	7: 64,695,593	V177D	probably benign	Het
Arfgap2	A	G	2: 91,270,241	K297R	probably benign	Het
Atg14	A	T	14: 47,542,895	I474N	probably damaging	Het
Atp2b4	C	A	1: 133,715,230	V1046F	probably benign	Het
Best1	A	G	19: 9,992,079	V205A	probably benign	Het
Bicdl1	A	G	5: 115,724,579	S206P	probably damaging	Het
Cacna1h	C	T	17: 25,432,876	C98Y	possibly damaging	Het
Calhm3	T	A	19: 47,151,991	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,483,342		probably null	Het
Cd248	A	T	19: 5,070,046	I641F	possibly damaging	Het
Chrnb3	C	T	8: 27,394,234	T333M	probably damaging	Het
Cyb5rl	A	G	4: 107,071,006	H113R	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddx59	T	A	1: 136,416,709	D39E	probably benign	Het
Defa5	A	G	8: 21,297,497	D20G	probably damaging	Het
Dido1	A	T	2: 180,661,884	V1409E	probably benign	Het
Dlc1	A	T	8: 36,937,609	V342E	probably benign	Het
Dsc2	G	A	18: 20,033,294	T760I	possibly damaging	Het
Dync1h1	A	G	12: 110,649,588	I3057V	probably benign	Het
Etnk2	T	G	1: 133,377,053		probably null	Het
Fbp2	G	T	13: 62,858,207	L31I	probably damaging	Het
Gbp7	A	T	3: 142,534,622	I34F	probably damaging	Het
Gcfc2	A	G	6: 81,943,479	E415G	probably damaging	Het
Glp1r	T	C	17: 30,925,549	L232P	probably damaging	Het
Gm10822	A	G	2: 73,899,275		noncoding transcript	Het
Gm42669	G	A	5: 107,507,910	V1192M	probably benign	Het
Gpr37	A	G	6: 25,689,063	S12P	possibly damaging	Het
Gpt	A	G	15: 76,697,976	E211G	possibly damaging	Het
Grxcr1	T	C	5: 68,110,412	I168T	probably damaging	Het
Hat1	T	C	2: 71,434,034	V272A	probably benign	Het
Igkv8-30	A	C	6: 70,117,086	C114G	probably damaging	Het
Kcne4	T	C	1: 78,817,907	S91P	probably benign	Het
Kif5b	G	A	18: 6,213,248	Q715*	probably null	Het
Lamb1	T	A	12: 31,287,429	N386K	probably damaging	Het
Lcmt2	T	C	2: 121,138,616	N662S	probably damaging	Het
Lnx1	G	T	5: 74,620,066	H324N	probably benign	Het
Lrrc4	T	G	6: 28,830,587	D343A	probably benign	Het
Mars	A	G	10: 127,299,285	S646P	probably damaging	Het
Mboat7	T	C	7: 3,684,011		probably benign	Het
Mlip	C	T	9: 77,164,863	V341I	possibly damaging	Het
Mterf1b	A	T	5: 4,197,057	T233S	possibly damaging	Het
Myo3a	A	T	2: 22,333,677	H442L	probably damaging	Het
Myrf	A	T	19: 10,224,600	V171D	possibly damaging	Het
Nbas	G	A	12: 13,361,045	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004	V226A	probably benign	Het
Nlrp4a	T	C	7: 26,450,153	L395P	probably damaging	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nsun6	A	G	2: 15,039,731		probably null	Het
Ntrk2	A	G	13: 58,859,301	H239R	possibly damaging	Het
Olfr1301	A	T	2: 111,754,386	M46L	probably benign	Het
Olfr259	T	C	2: 87,108,262	N42D	probably damaging	Het
Olfr495	A	G	7: 108,395,861	H247R	probably damaging	Het
Olfr979	T	C	9: 40,001,204	T8A	probably benign	Het
Pate4	C	A	9: 35,608,257	A46S	possibly damaging	Het
Pcdhb18	T	C	18: 37,490,600	S328P	probably damaging	Het
Pdk4	A	G	6: 5,494,857		probably benign	Het
Pigm	T	C	1: 172,377,533	Y279H	probably damaging	Het
Pla2g16	A	G	19: 7,579,109	I92V	probably damaging	Het
Plxdc2	A	G	2: 16,713,683	I379M	probably damaging	Het
Ppp1r35	A	G	5: 137,779,894	N217S	possibly damaging	Het
Prex1	G	A	2: 166,569,365	T1438I	possibly damaging	Het
Ptger4	T	A	15: 5,242,845	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,847,117	I124N	probably damaging	Het
Rest	A	G	5: 77,281,279	K515R	possibly damaging	Het
Ryr1	A	G	7: 29,086,049	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,945,977	T25K	probably benign	Het
Sacs	A	T	14: 61,191,919	I476L	possibly damaging	Het
Serpina3g	A	T	12: 104,239,158	D52V	probably damaging	Het
Skint6	T	C	4: 112,846,684	N998S	probably benign	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc10a4	G	A	5: 73,017,139		probably benign	Het
Slc24a2	G	T	4: 87,011,646	P538T	probably damaging	Het
Sntg1	T	A	1: 8,595,539	T184S	probably benign	Het
Ssbp1	A	G	6: 40,476,499	Y73C	probably null	Het
St18	G	A	1: 6,827,971	V666M	probably benign	Het
Suclg1	A	G	6: 73,264,276	K193R	probably benign	Het
Tcp11l1	T	C	2: 104,684,139	I428V	possibly damaging	Het
Th	T	A	7: 142,895,543	D275V	probably damaging	Het
Tnrc18	A	C	5: 142,773,641	S813R	unknown	Het
Tnrc6a	T	C	7: 123,172,120		probably null	Het
Trap1	A	C	16: 4,046,039	Y472*	probably null	Het
Trdv1	C	A	14: 53,882,169	Q96K	probably benign	Het
Trpm8	T	C	1: 88,343,326	I446T	probably damaging	Het
Tti2	T	C	8: 31,154,266	L297P	probably damaging	Het
Ttn	C	T	2: 76,735,011	G26545R	probably damaging	Het
Ttn	T	C	2: 76,757,144	D13208G	probably damaging	Het
Tubb3	A	G	8: 123,421,678		probably null	Het
Umodl1	A	G	17: 30,971,919	M247V	probably benign	Het
Wrn	T	A	8: 33,267,825	H812L	probably benign	Het
Zfp174	A	G	16: 3,854,642	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,242,757	K134*	probably null	Het

Other mutations in Agbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Agbl1	APN	7	76421880	missense	probably benign	0.01
IGL01650:Agbl1	APN	7	76420319	missense	probably damaging	1.00
IGL02244:Agbl1	APN	7	76766372	missense	probably damaging	1.00
IGL03088:Agbl1	APN	7	76720142	missense	probably benign	0.12
IGL03143:Agbl1	APN	7	76420045	nonsense	probably null
IGL03306:Agbl1	APN	7	76589504	missense	probably damaging	1.00
R0001:Agbl1	UTSW	7	76419863	missense	probably damaging	0.98
R0045:Agbl1	UTSW	7	76698840	critical splice donor site	probably null
R0045:Agbl1	UTSW	7	76698840	critical splice donor site	probably null
R0541:Agbl1	UTSW	7	76409245	missense	probably benign	0.22
R1889:Agbl1	UTSW	7	76589381	missense	probably damaging	1.00
R2089:Agbl1	UTSW	7	76589500	missense	probably damaging	0.98
R2091:Agbl1	UTSW	7	76589500	missense	probably damaging	0.98
R2127:Agbl1	UTSW	7	76419880	missense	possibly damaging	0.64
R2148:Agbl1	UTSW	7	76414717	splice site	probably null
R2229:Agbl1	UTSW	7	76433378	missense	probably benign	0.43
R2243:Agbl1	UTSW	7	76418722	missense	possibly damaging	0.93
R2255:Agbl1	UTSW	7	76422184	missense	probably damaging	1.00
R2411:Agbl1	UTSW	7	76720150	missense	probably damaging	1.00
R2426:Agbl1	UTSW	7	76421902	missense	probably damaging	1.00
R2508:Agbl1	UTSW	7	76589550	critical splice donor site	probably null
R2910:Agbl1	UTSW	7	76419838	missense	probably benign	0.13
R2919:Agbl1	UTSW	7	76414658	missense	probably damaging	1.00
R3056:Agbl1	UTSW	7	76766484	missense	possibly damaging	0.60
R3153:Agbl1	UTSW	7	76720196	missense	probably damaging	1.00
R3770:Agbl1	UTSW	7	76425929	critical splice donor site	probably null
R3825:Agbl1	UTSW	7	76419967	missense	probably damaging	0.99
R4632:Agbl1	UTSW	7	76413685	missense	probably benign	0.00
R4857:Agbl1	UTSW	7	76419835	missense	probably benign	0.03
R4943:Agbl1	UTSW	7	76420016	missense	probably benign	0.01
R5055:Agbl1	UTSW	7	76413577	missense	probably damaging	1.00
R5071:Agbl1	UTSW	7	76421917	missense	probably damaging	1.00
R5072:Agbl1	UTSW	7	76421917	missense	probably damaging	1.00
R5074:Agbl1	UTSW	7	76421917	missense	probably damaging	1.00
R5095:Agbl1	UTSW	7	76720133	missense	probably damaging	0.96
R5133:Agbl1	UTSW	7	76422156	missense	probably benign	0.21
R5576:Agbl1	UTSW	7	76335237	missense	probably benign	0.03
R5665:Agbl1	UTSW	7	76589503	missense	probably damaging	1.00
R5849:Agbl1	UTSW	7	76325098	missense	probably benign	0.35
R5924:Agbl1	UTSW	7	76409234	missense	probably benign	0.12
R6044:Agbl1	UTSW	7	76318120	missense	possibly damaging	0.56
R6117:Agbl1	UTSW	7	76698786	missense	probably damaging	1.00
R6144:Agbl1	UTSW	7	76420084	missense	probably benign	0.02
R6368:Agbl1	UTSW	7	76419830	missense	probably benign	0.25
R6806:Agbl1	UTSW	7	76425921	missense	probably damaging	1.00
R7455:Agbl1	UTSW	7	76424755	missense	unknown
R7459:Agbl1	UTSW	7	76420066	missense	not run
R7485:Agbl1	UTSW	7	76589493	missense	unknown
R7516:Agbl1	UTSW	7	76425921	missense	probably damaging	1.00
R7539:Agbl1	UTSW	7	76425929	critical splice donor site	probably null
R7561:Agbl1	UTSW	7	76698761	missense	unknown
R7630:Agbl1	UTSW	7	76886156	missense	unknown
R7655:Agbl1	UTSW	7	76409332	missense
R7656:Agbl1	UTSW	7	76409332	missense
R7658:Agbl1	UTSW	7	76766369	missense	unknown
R7681:Agbl1	UTSW	7	76444901	missense	unknown
R7694:Agbl1	UTSW	7	76698765	missense	unknown
R7773:Agbl1	UTSW	7	76698837	missense	unknown
R7981:Agbl1	UTSW	7	76444840	missense	unknown
R8208:Agbl1	UTSW	7	76720168	missense	unknown
R8317:Agbl1	UTSW	7	76422181	missense	unknown
R8406:Agbl1	UTSW	7	76418667	missense
R8432:Agbl1	UTSW	7	77124686	missense	unknown
R8704:Agbl1	UTSW	7	76589554	splice site	probably benign
R8830:Agbl1	UTSW	7	76335311	missense
R8985:Agbl1	UTSW	7	76320156	missense
R9113:Agbl1	UTSW	7	76589477	missense	unknown
R9170:Agbl1	UTSW	7	76335321	missense
R9229:Agbl1	UTSW	7	77124522	missense	unknown
R9255:Agbl1	UTSW	7	76766402	missense	unknown
R9391:Agbl1	UTSW	7	76421854	missense	unknown
R9646:Agbl1	UTSW	7	76425900	missense	unknown
Z1088:Agbl1	UTSW	7	76419904	missense	probably benign	0.00
Z1176:Agbl1	UTSW	7	76418685	missense
Z1177:Agbl1	UTSW	7	76720206	missense	unknown

Predicted Primers

Posted On

2017-12-01