Mutagenetix > Incidental Mutation

Incidental Mutation 'R7392:Agbl5'

573497

Institutional Source

Beutler Lab

Gene Symbol

Agbl5

Ensembl Gene

ENSMUSG00000029165

Gene Name

ATP/GTP binding protein-like 5

Synonyms

Ccp5, 9430057O19Rik

MMRRC Submission

045474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31046038-31064309 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 31048115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063228 (fasta)

Gene Model

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

AlphaFold

Q09M02

Predicted Effect

probably null
Transcript: ENSMUST00000069705

SMART Domains

Protein: ENSMUSP00000063228
Gene: ENSMUSG00000029165

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 null
Transcript: ENSMUST00000114700

SMART Domains

Protein: ENSMUSP00000110348
Gene: ENSMUSG00000029165

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

probably null
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 null
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

probably null
Transcript: ENSMUST00000201168

SMART Domains

Protein: ENSMUSP00000143808
Gene: ENSMUSG00000029165

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 null
Transcript: ENSMUST00000201225

SMART Domains

Protein: ENSMUSP00000143934
Gene: ENSMUSG00000029165

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

probably benign
Transcript: ENSMUST00000201817

SMART Domains

Protein: ENSMUSP00000144304
Gene: ENSMUSG00000029165

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

probably null
Transcript: ENSMUST00000201917

SMART Domains

Protein: ENSMUSP00000144188
Gene: ENSMUSG00000029165

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

probably null
Transcript: ENSMUST00000202060

SMART Domains

Protein: ENSMUSP00000144018
Gene: ENSMUSG00000029165

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

probably benign
Transcript: ENSMUST00000202109

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,990 (GRCm39)	F564L	probably damaging	Het
Abcc2	T	C	19: 43,797,126 (GRCm39)	I499T	probably damaging	Het
Adamts13	C	T	2: 26,879,336 (GRCm39)	R630C	probably damaging	Het
Adgrv1	A	T	13: 81,708,808 (GRCm39)	F1199I	probably damaging	Het
Anks1b	A	G	10: 90,516,648 (GRCm39)	D881G	possibly damaging	Het
Arap2	A	T	5: 62,855,728 (GRCm39)	S569R	possibly damaging	Het
Arhgap15	T	C	2: 43,953,786 (GRCm39)	S171P	possibly damaging	Het
Arhgef11	G	A	3: 87,624,482 (GRCm39)		probably null	Het
Baz1a	C	A	12: 54,945,550 (GRCm39)	L1271F	probably damaging	Het
Bdnf	A	C	2: 109,554,275 (GRCm39)	K216N	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bnip5	A	T	17: 29,127,351 (GRCm39)	D219E	probably benign	Het
Cacna1c	T	A	6: 118,718,881 (GRCm39)	I390F		Het
Chd8	A	G	14: 52,470,312 (GRCm39)	S433P	probably benign	Het
Clrn2	A	G	5: 45,621,251 (GRCm39)	E215G	possibly damaging	Het
Col19a1	T	G	1: 24,573,115 (GRCm39)	D219A	unknown	Het
Col2a1	G	A	15: 97,878,032 (GRCm39)	R1036*	probably null	Het
Copg1	T	A	6: 87,867,257 (GRCm39)	V110D	probably benign	Het
Cpd	C	T	11: 76,692,605 (GRCm39)	G744D	probably damaging	Het
Crygs	G	A	16: 22,625,252 (GRCm39)	P63L	probably benign	Het
Dcn	A	G	10: 97,345,860 (GRCm39)	D224G	probably damaging	Het
Dnah7a	T	C	1: 53,540,820 (GRCm39)	E2518G	probably benign	Het
Efcab6	C	A	15: 83,873,152 (GRCm39)	R197L	probably benign	Het
Efr3b	T	A	12: 4,019,588 (GRCm39)	Y723F	probably benign	Het
Enam	A	G	5: 88,649,523 (GRCm39)	N344S	probably damaging	Het
Erich4	A	G	7: 25,315,101 (GRCm39)	I58T	possibly damaging	Het
Esrp1	A	G	4: 11,338,809 (GRCm39)	V665A	probably benign	Het
Etf1	G	A	18: 35,039,103 (GRCm39)	T388I	probably benign	Het
Faf1	A	G	4: 109,652,040 (GRCm39)	T244A	probably benign	Het
Fbn1	T	C	2: 125,185,844 (GRCm39)	D1610G	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Frem1	G	T	4: 82,932,064 (GRCm39)	F212L	probably benign	Het
Fuom	T	A	7: 139,681,073 (GRCm39)	D85V	probably damaging	Het
Gcfc2	T	C	6: 81,919,993 (GRCm39)		probably null	Het
Gpr37	C	T	6: 25,688,786 (GRCm39)	A104T	probably benign	Het
Hsp90ab1	G	C	17: 45,879,974 (GRCm39)	T514S	probably benign	Het
Ifnl2	A	G	7: 28,209,094 (GRCm39)	F74L	probably benign	Het
Ipo11	G	A	13: 107,028,199 (GRCm39)	R367*	probably null	Het
Itpr2	T	C	6: 146,260,838 (GRCm39)	D963G	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrch3	T	A	16: 32,807,125 (GRCm39)	L466*	probably null	Het
Lrfn5	A	T	12: 61,887,090 (GRCm39)	T293S	probably benign	Het
Lrp5	A	G	19: 3,660,199 (GRCm39)	I955T	probably damaging	Het
Lrrc4b	C	T	7: 44,111,439 (GRCm39)	T437M	probably damaging	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Mapkap1	G	T	2: 34,325,166 (GRCm39)	R94L	probably damaging	Het
Mtmr4	T	A	11: 87,495,383 (GRCm39)	L480Q	probably damaging	Het
Mycbp2	T	C	14: 103,389,627 (GRCm39)	I3504M	probably damaging	Het
Mycbp2	A	T	14: 103,480,564 (GRCm39)	C1169S	probably damaging	Het
Myo15a	T	C	11: 60,396,802 (GRCm39)	S1455P		Het
Niban1	A	G	1: 151,571,975 (GRCm39)	T307A	probably damaging	Het
Nid2	A	G	14: 19,818,724 (GRCm39)	D406G	probably benign	Het
Nrip2	A	G	6: 128,381,913 (GRCm39)	I69V	probably benign	Het
Nthl1	G	A	17: 24,857,598 (GRCm39)	V266I	probably benign	Het
Or2ag16	T	C	7: 106,352,589 (GRCm39)	E2G	possibly damaging	Het
Or5an6	G	T	19: 12,371,829 (GRCm39)	L67F	probably damaging	Het
Or5b21	A	G	19: 12,839,951 (GRCm39)	T271A	probably benign	Het
Or5g23	A	C	2: 85,438,832 (GRCm39)	C141G	possibly damaging	Het
Or5p75-ps1	C	A	7: 108,107,291 (GRCm39)	H9Q	possibly damaging	Het
Or8k25	A	G	2: 86,243,496 (GRCm39)	V300A	probably benign	Het
Or8s5	A	G	15: 98,238,192 (GRCm39)	V226A	probably benign	Het
Pcdhb1	A	C	18: 37,398,171 (GRCm39)	S41R	possibly damaging	Het
Pdcd11	T	A	19: 47,116,436 (GRCm39)	F1529I	probably damaging	Het
Plcd3	C	A	11: 102,992,383 (GRCm39)		probably benign	Het
Qdpr	T	C	5: 45,596,718 (GRCm39)	M149V	probably benign	Het
R3hcc1	T	A	14: 69,943,329 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,041,856 (GRCm39)	Y392C		Het
Slc8a3	A	C	12: 81,361,577 (GRCm39)	V414G	probably damaging	Het
Slco1a6	A	G	6: 142,103,003 (GRCm39)	S54P	probably benign	Het
Sos1	C	A	17: 80,731,629 (GRCm39)	V624F	probably damaging	Het
Spdef	T	C	17: 27,936,262 (GRCm39)	D227G	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Srsf12	A	T	4: 33,209,265 (GRCm39)	R62W	unknown	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Sult2b1	T	C	7: 45,391,862 (GRCm39)		probably benign	Het
Taf1a	A	G	1: 183,190,095 (GRCm39)	T66A		Het
Tfg	A	T	16: 56,532,972 (GRCm39)		probably null	Het
Trim34b	A	G	7: 103,985,604 (GRCm39)	N413S	probably benign	Het
Txndc15	T	A	13: 55,869,399 (GRCm39)	M184K	probably damaging	Het
Umodl1	A	C	17: 31,201,306 (GRCm39)	S412R	probably damaging	Het
Zbtb8b	T	A	4: 129,326,683 (GRCm39)	M161L	probably benign	Het
Zfp597	A	T	16: 3,684,369 (GRCm39)	V129E	probably benign	Het
Zfp790	T	C	7: 29,528,050 (GRCm39)	I245T	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
R1694:Agbl5	UTSW	5	31,050,726 (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
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'- GGCTCTCAGGTCATGGTTCTAC -3'
(R):5'- ATGCTGGGAACTGACCTCATG -3'

Sequencing Primer
(F):5'- TCAGGTCATGGTTCTACTTCAG -3'
(R):5'- GGGAACTGACCTCATGCCTCTC -3'

Posted On

2019-09-13