Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02982:Agbl2'

406582

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agbl2

Ensembl Gene

ENSMUSG00000040812

Gene Name

ATP/GTP binding protein-like 2

Synonyms

A430081C19Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

90782727-90834437 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90805815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 565 (C565Y)

Ref Sequence

ENSEMBL: ENSMUSP00000051620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037206] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000111481] [ENSMUST00000136058] [ENSMUST00000170320]

AlphaFold

Q8CDK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000037206
AA Change: C565Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: C565Y

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	375	541	1.8e-18	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000037219
AA Change: C565Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: C565Y

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	374	618	5e-32	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000051831
AA Change: C565Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: C565Y

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	376	565	1.6e-18	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111481
AA Change: C565Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: C565Y

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	374	618	5e-32	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118431

Predicted Effect

probably damaging
Transcript: ENSMUST00000136058
AA Change: C565Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: C565Y

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	374	618	2.8e-32	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149037

Predicted Effect

probably damaging
Transcript: ENSMUST00000170320
AA Change: C565Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: C565Y

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	376	558	1.8e-18	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	probably damaging	Het

Other mutations in Agbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Agbl2	APN	2	90801045	missense	probably damaging	1.00
IGL00515:Agbl2	APN	2	90793960	missense	possibly damaging	0.93
IGL01694:Agbl2	APN	2	90801074	missense	probably damaging	1.00
IGL02064:Agbl2	APN	2	90784024	utr 5 prime	probably benign
IGL02708:Agbl2	APN	2	90801342	missense	probably benign	0.23
IGL02715:Agbl2	APN	2	90805868	missense	probably damaging	0.99
IGL02717:Agbl2	APN	2	90805868	missense	probably damaging	0.99
IGL03039:Agbl2	APN	2	90801222	missense	possibly damaging	0.93
IGL03339:Agbl2	APN	2	90797563	missense	probably damaging	1.00
R0243:Agbl2	UTSW	2	90791481	missense	possibly damaging	0.80
R0381:Agbl2	UTSW	2	90784098	missense	probably damaging	1.00
R0441:Agbl2	UTSW	2	90797483	nonsense	probably null
R0549:Agbl2	UTSW	2	90789843	splice site	probably benign
R0665:Agbl2	UTSW	2	90801210	missense	probably damaging	1.00
R1412:Agbl2	UTSW	2	90788954	missense	probably benign
R1682:Agbl2	UTSW	2	90784090	missense	probably benign	0.06
R1694:Agbl2	UTSW	2	90801320	missense	probably damaging	1.00
R1733:Agbl2	UTSW	2	90810745	missense	probably damaging	1.00
R1750:Agbl2	UTSW	2	90816376	utr 3 prime	probably benign
R1916:Agbl2	UTSW	2	90815441	missense	possibly damaging	0.73
R1940:Agbl2	UTSW	2	90811282	missense	probably damaging	0.99
R3115:Agbl2	UTSW	2	90805901	missense	possibly damaging	0.85
R3407:Agbl2	UTSW	2	90791618	missense	probably damaging	1.00
R3710:Agbl2	UTSW	2	90805808	missense	probably benign	0.00
R4227:Agbl2	UTSW	2	90801453	missense	probably damaging	0.96
R4719:Agbl2	UTSW	2	90815389	missense	probably benign	0.01
R4903:Agbl2	UTSW	2	90797473	missense	possibly damaging	0.50
R5170:Agbl2	UTSW	2	90803197	missense	probably benign	0.10
R5535:Agbl2	UTSW	2	90810006	missense	probably benign	0.26
R5677:Agbl2	UTSW	2	90807978	missense	possibly damaging	0.66
R6041:Agbl2	UTSW	2	90808027	missense	probably benign	0.00
R6195:Agbl2	UTSW	2	90813313	missense	probably benign	0.02
R6233:Agbl2	UTSW	2	90813313	missense	probably benign	0.02
R6607:Agbl2	UTSW	2	90801326	missense	probably damaging	0.99
R6752:Agbl2	UTSW	2	90803074	missense	probably damaging	1.00
R7104:Agbl2	UTSW	2	90797547	missense	probably damaging	1.00
R7261:Agbl2	UTSW	2	90788944	missense	possibly damaging	0.94
R7555:Agbl2	UTSW	2	90791555	missense	probably damaging	1.00
R7704:Agbl2	UTSW	2	90789005	missense	probably benign	0.05
R7833:Agbl2	UTSW	2	90815433	missense	probably benign	0.00
R7960:Agbl2	UTSW	2	90791631	missense	probably benign	0.01
R8070:Agbl2	UTSW	2	90791565	missense	probably benign	0.00
R8248:Agbl2	UTSW	2	90797564	missense	probably damaging	1.00
R8249:Agbl2	UTSW	2	90797564	missense	probably damaging	1.00
R8250:Agbl2	UTSW	2	90797564	missense	probably damaging	1.00
R8486:Agbl2	UTSW	2	90801155	missense	possibly damaging	0.61
R8501:Agbl2	UTSW	2	90797564	missense	probably damaging	1.00
R8856:Agbl2	UTSW	2	90801744	missense	probably damaging	1.00
R9039:Agbl2	UTSW	2	90815386	missense	probably benign	0.00

Posted On

2016-08-02