Mutagenetix > Incidental Mutation

Incidental Mutation 'R1694:Agbl5'

192001

Institutional Source

Beutler Lab

Gene Symbol

Agbl5

Ensembl Gene

ENSMUSG00000029165

Gene Name

ATP/GTP binding protein-like 5

Synonyms

Ccp5, 9430057O19Rik

MMRRC Submission

039727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31046038-31064309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31050726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 458 (Y458C)

Ref Sequence

ENSEMBL: ENSMUSP00000110348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069705] [ENSMUST00000114700] [ENSMUST00000200695] [ENSMUST00000200850] [ENSMUST00000201225] [ENSMUST00000201917] [ENSMUST00000201817] [ENSMUST00000201168] [ENSMUST00000202060] [ENSMUST00000202109]

AlphaFold

Q09M02

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069705
AA Change: Y429C

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063228
Gene: ENSMUSG00000029165
AA Change: Y429C

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	191	361	8.4e-19	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	4e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114700
AA Change: Y458C

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

SMART Domains

Protein: ENSMUSP00000110348
Gene: ENSMUSG00000029165
AA Change: Y458C

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	220	390	1.1e-18	PFAM
low complexity region	413	428	N/A	INTRINSIC
Blast:Zn_pept	453	518	5e-14	BLAST
low complexity region	567	577	N/A	INTRINSIC
low complexity region	672	683	N/A	INTRINSIC
low complexity region	743	762	N/A	INTRINSIC
low complexity region	766	787	N/A	INTRINSIC
low complexity region	824	835	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114704
AA Change: Y429C

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110352
Gene: ENSMUSG00000029165
AA Change: Y429C

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	370	7.3e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	737	758	N/A	INTRINSIC
low complexity region	836	847	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200695

SMART Domains

Protein: ENSMUSP00000144109
Gene: ENSMUSG00000029165

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
SCOP:d2ctc__	148	177	5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200850

SMART Domains

Protein: ENSMUSP00000144274
Gene: ENSMUSG00000029165

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
SCOP:d1jqga1	178	229	1e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200990

Predicted Effect

probably benign
Transcript: ENSMUST00000201014

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201225
AA Change: Y429C

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143934
Gene: ENSMUSG00000029165
AA Change: Y429C

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	373	5.9e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	752	768	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201917
AA Change: Y429C

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144188
Gene: ENSMUSG00000029165
AA Change: Y429C

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	372	6.5e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	737	758	N/A	INTRINSIC
low complexity region	795	806	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201817
AA Change: Y429C

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144304
Gene: ENSMUSG00000029165
AA Change: Y429C

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	372	6.4e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	737	758	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201168
AA Change: Y429C

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143808
Gene: ENSMUSG00000029165
AA Change: Y429C

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	370	7.3e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	737	758	N/A	INTRINSIC
low complexity region	836	847	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202060
AA Change: Y429C

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144018
Gene: ENSMUSG00000029165
AA Change: Y429C

Domain	Start	End	E-Value	Type
low complexity region	34	50	N/A	INTRINSIC
Pfam:Peptidase_M14	196	373	5.9e-13	PFAM
low complexity region	384	399	N/A	INTRINSIC
Blast:Zn_pept	424	489	5e-14	BLAST
low complexity region	538	548	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
low complexity region	714	733	N/A	INTRINSIC
low complexity region	752	768	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201523

Predicted Effect

probably benign
Transcript: ENSMUST00000202109

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to HSV or VACV infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	C	10: 120,614,533 (GRCm39)		probably benign	Het
4930447C04Rik	C	T	12: 72,931,992 (GRCm39)		probably null	Het
Abca16	A	G	7: 120,119,307 (GRCm39)	H1017R	probably damaging	Het
Actl11	A	G	9: 107,807,207 (GRCm39)	Y510C	probably damaging	Het
Agbl2	A	G	2: 90,631,664 (GRCm39)	T341A	probably damaging	Het
Akap5	C	T	12: 76,376,698 (GRCm39)	S710L	probably damaging	Het
Akr1c21	A	G	13: 4,625,177 (GRCm39)	E36G	probably damaging	Het
Arhgap44	A	G	11: 64,944,023 (GRCm39)	S163P	probably damaging	Het
Armc1	A	G	3: 19,189,050 (GRCm39)	V205A	possibly damaging	Het
Asph	A	G	4: 9,610,869 (GRCm39)	L102P	probably damaging	Het
Brca1	T	C	11: 101,422,925 (GRCm39)	E74G	probably damaging	Het
Brms1l	A	G	12: 55,888,385 (GRCm39)	R58G	probably damaging	Het
C1qbp	G	T	11: 70,869,073 (GRCm39)		probably null	Het
Calcrl	A	T	2: 84,169,631 (GRCm39)	L350H	probably damaging	Het
Casr	A	T	16: 36,315,953 (GRCm39)	F706I	probably damaging	Het
Ceacam10	T	A	7: 24,480,491 (GRCm39)	N87K	probably benign	Het
Cfap206	G	T	4: 34,719,058 (GRCm39)	T316K	probably damaging	Het
Col4a3	A	T	1: 82,668,384 (GRCm39)		probably null	Het
Comtd1	A	G	14: 21,897,398 (GRCm39)	V183A	probably damaging	Het
Crygs	A	T	16: 22,625,425 (GRCm39)		probably null	Het
Dact1	C	A	12: 71,359,551 (GRCm39)	T139K	probably damaging	Het
Dlx6	T	C	6: 6,867,173 (GRCm39)	W259R	probably damaging	Het
Dnah9	G	T	11: 65,845,650 (GRCm39)	S627*	probably null	Het
Dnajc11	T	A	4: 152,063,730 (GRCm39)	V442D	probably damaging	Het
Dnajc21	A	T	15: 10,451,649 (GRCm39)	S393T	probably benign	Het
Dpysl3	C	A	18: 43,461,439 (GRCm39)	C584F	possibly damaging	Het
Efcab14	A	G	4: 115,603,736 (GRCm39)	K138R	possibly damaging	Het
Ephb3	A	G	16: 21,040,495 (GRCm39)	E577G	probably damaging	Het
Exoc3	C	T	13: 74,338,184 (GRCm39)		probably null	Het
Fam171a1	A	G	2: 3,226,660 (GRCm39)	S473G	probably benign	Het
Fbxl2	A	T	9: 113,832,239 (GRCm39)	F58L	probably damaging	Het
Fmo6	T	C	1: 162,750,241 (GRCm39)	M272V	probably benign	Het
Gm10000	T	C	12: 104,442,859 (GRCm39)		probably benign	Het
Grik1	T	A	16: 87,746,956 (GRCm39)	D442V	probably damaging	Het
Hectd1	A	G	12: 51,791,375 (GRCm39)	Y2588H	probably damaging	Het
Insrr	A	C	3: 87,711,369 (GRCm39)	T430P	probably benign	Het
Lats1	T	C	10: 7,577,709 (GRCm39)	S278P	probably benign	Het
Lrch4	A	G	5: 137,636,723 (GRCm39)	T463A	probably benign	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Lyst	T	G	13: 13,835,746 (GRCm39)	F1809L	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Magoh	G	T	4: 107,740,362 (GRCm39)	R82L	probably benign	Het
Mdfic2	A	C	6: 98,215,100 (GRCm39)	S174R	probably damaging	Het
Mlh1	A	G	9: 111,057,543 (GRCm39)	V756A	probably damaging	Het
Mlh3	T	C	12: 85,313,915 (GRCm39)	E757G	probably damaging	Het
Mycbp2	T	C	14: 103,464,947 (GRCm39)	T1339A	probably damaging	Het
Myh7b	A	T	2: 155,455,113 (GRCm39)	E46V	probably damaging	Het
Naalad2	T	A	9: 18,238,683 (GRCm39)	R677S	probably damaging	Het
Nadsyn1	G	A	7: 143,361,749 (GRCm39)	T324I	probably benign	Het
Neo1	A	T	9: 58,787,886 (GRCm39)	L1389Q	probably damaging	Het
Nlrp1b	A	G	11: 71,107,681 (GRCm39)		probably null	Het
Nup210	A	C	6: 91,039,785 (GRCm39)	I690S	probably benign	Het
Or55b3	A	T	7: 102,126,547 (GRCm39)	S177T	probably benign	Het
Or5an11	T	A	19: 12,246,281 (GRCm39)	I229N	probably damaging	Het
Or9r7	T	A	10: 129,962,123 (GRCm39)	I268F	possibly damaging	Het
Otud7a	C	A	7: 63,383,458 (GRCm39)	H316N	probably damaging	Het
Pcdh15	T	C	10: 74,429,995 (GRCm39)	S1241P	probably damaging	Het
Pclo	A	G	5: 14,570,977 (GRCm39)	K121E	probably damaging	Het
Pcmtd1	A	T	1: 7,217,872 (GRCm39)	I107L	probably benign	Het
Pde6c	A	G	19: 38,168,673 (GRCm39)	I755V	probably damaging	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,113,240 (GRCm39)	I1532N	probably damaging	Het
Pla2r1	A	G	2: 60,271,428 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,474,621 (GRCm39)	N661S	probably null	Het
Plekhd1	A	G	12: 80,769,095 (GRCm39)	K452E	possibly damaging	Het
Prr12	C	A	7: 44,678,003 (GRCm39)	V2003F	unknown	Het
Ptger1	G	A	8: 84,395,107 (GRCm39)	G195R	probably benign	Het
Ptpn4	T	C	1: 119,711,240 (GRCm39)	Q67R	probably damaging	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rock1	A	G	18: 10,136,094 (GRCm39)		probably null	Het
Rtn1	T	C	12: 72,270,298 (GRCm39)	Y71C	probably damaging	Het
Rtp4	T	C	16: 23,431,870 (GRCm39)	*62Q	probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scimp	G	T	11: 70,684,618 (GRCm39)	P78H	probably damaging	Het
Scn8a	C	A	15: 100,853,409 (GRCm39)	S132*	probably null	Het
Set	A	G	2: 29,959,436 (GRCm39)	I124M	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sgce	A	G	6: 4,689,709 (GRCm39)	S375P	probably damaging	Het
Slc4a1ap	G	C	5: 31,701,098 (GRCm39)	E600Q	probably damaging	Het
Slit1	A	G	19: 41,626,031 (GRCm39)	V577A	possibly damaging	Het
Sqstm1	A	G	11: 50,098,307 (GRCm39)	V153A	probably benign	Het
Src	A	G	2: 157,311,675 (GRCm39)	M468V	possibly damaging	Het
Srrm3	A	G	5: 135,902,079 (GRCm39)		probably benign	Het
Stk11ip	C	T	1: 75,504,030 (GRCm39)	R257W	probably damaging	Het
Tfrc	T	A	16: 32,433,443 (GRCm39)	D32E	probably damaging	Het
Tor1aip2	A	T	1: 155,941,031 (GRCm39)	I446L	probably benign	Het
Trmt11	T	C	10: 30,411,221 (GRCm39)	H424R	probably benign	Het
Urb1	A	G	16: 90,563,928 (GRCm39)	Y1612H	probably benign	Het
Vcan	A	T	13: 89,836,602 (GRCm39)	S2981T	probably damaging	Het
Vdac1	G	C	11: 52,265,190 (GRCm39)	G21A	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Xpo1	A	G	11: 23,231,399 (GRCm39)	T328A	probably benign	Het
Xrcc5	C	T	1: 72,358,255 (GRCm39)	L197F	possibly damaging	Het
Zfhx2	G	C	14: 55,311,401 (GRCm39)	S431C	possibly damaging	Het
Zfp410	C	T	12: 84,372,494 (GRCm39)	P54S	probably benign	Het
Zfp560	C	A	9: 20,259,282 (GRCm39)	G527*	probably null	Het
Zfp775	A	G	6: 48,596,389 (GRCm39)	T88A	possibly damaging	Het
Zfp780b	T	A	7: 27,663,808 (GRCm39)	H249L	possibly damaging	Het

Other mutations in Agbl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Agbl5	APN	5	31,050,578 (GRCm39)	missense	probably benign	0.00
sausage	UTSW	5	31,051,702 (GRCm39)	nonsense	probably null
R0355:Agbl5	UTSW	5	31,049,335 (GRCm39)	critical splice donor site	probably null
R0575:Agbl5	UTSW	5	31,051,798 (GRCm39)	missense	probably damaging	1.00
R1709:Agbl5	UTSW	5	31,063,585 (GRCm39)	missense	probably damaging	1.00
R1829:Agbl5	UTSW	5	31,060,408 (GRCm39)	missense	possibly damaging	0.66
R2434:Agbl5	UTSW	5	31,051,357 (GRCm39)	missense	probably damaging	0.97
R3418:Agbl5	UTSW	5	31,062,067 (GRCm39)	missense	probably damaging	1.00
R4827:Agbl5	UTSW	5	31,053,158 (GRCm39)	missense	probably damaging	1.00
R4828:Agbl5	UTSW	5	31,048,059 (GRCm39)	missense	probably damaging	1.00
R4830:Agbl5	UTSW	5	31,048,059 (GRCm39)	missense	probably damaging	1.00
R5017:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5018:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5036:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5038:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5052:Agbl5	UTSW	5	31,048,558 (GRCm39)	missense	possibly damaging	0.76
R5071:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5073:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5074:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5081:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5083:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5103:Agbl5	UTSW	5	31,051,345 (GRCm39)	missense	probably damaging	1.00
R5107:Agbl5	UTSW	5	31,049,822 (GRCm39)	missense	probably damaging	1.00
R5130:Agbl5	UTSW	5	31,060,403 (GRCm39)	missense	probably damaging	1.00
R5395:Agbl5	UTSW	5	31,047,682 (GRCm39)	missense	probably damaging	1.00
R5522:Agbl5	UTSW	5	31,051,247 (GRCm39)	splice site	probably null
R5524:Agbl5	UTSW	5	31,051,247 (GRCm39)	splice site	probably null
R5526:Agbl5	UTSW	5	31,051,247 (GRCm39)	splice site	probably null
R5657:Agbl5	UTSW	5	31,051,390 (GRCm39)	missense	probably damaging	1.00
R5790:Agbl5	UTSW	5	31,051,702 (GRCm39)	nonsense	probably null
R6301:Agbl5	UTSW	5	31,049,177 (GRCm39)	missense	probably damaging	1.00
R6891:Agbl5	UTSW	5	31,052,522 (GRCm39)	missense	probably damaging	1.00
R6919:Agbl5	UTSW	5	31,062,061 (GRCm39)	missense	probably benign	0.13
R7388:Agbl5	UTSW	5	31,060,583 (GRCm39)	nonsense	probably null
R7392:Agbl5	UTSW	5	31,048,115 (GRCm39)	critical splice donor site	probably null
R7410:Agbl5	UTSW	5	31,048,032 (GRCm39)	missense	possibly damaging	0.94
R7452:Agbl5	UTSW	5	31,050,735 (GRCm39)	missense	probably damaging	1.00
R8312:Agbl5	UTSW	5	31,051,850 (GRCm39)	missense	probably damaging	1.00
R8901:Agbl5	UTSW	5	31,048,435 (GRCm39)	missense	possibly damaging	0.58
RF007:Agbl5	UTSW	5	31,060,589 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGCCAAAGCTGTGCTGCTTTATC -3'
(R):5'- GGGCTTGTTCTTCACTCAGACACC -3'

Sequencing Primer
(F):5'- AAAGCTGTGCTGCTTTATCATCAC -3'
(R):5'- CATGATGCAATGGCTAAGCTCTC -3'

Posted On

2014-05-14