Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00808:Agtpbp1'

8658

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agtpbp1

Ensembl Gene

ENSMUSG00000021557

Gene Name

ATP/GTP binding protein 1

Synonyms

2310001G17Rik, Ccp1, Nna1, 4930445M19Rik, 1700020N17Rik, 2900054O13Rik, 5730402G09Rik, atms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

IGL00808

Quality Score

Status

Chromosome

Chromosomal Location

59597348-59705184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59609908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 131 (E131G)

Ref Sequence

ENSEMBL: ENSMUSP00000153569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022040] [ENSMUST00000164215] [ENSMUST00000169745] [ENSMUST00000170555] [ENSMUST00000224397]

AlphaFold

Q641K1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022040
AA Change: E1074G

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: E1074G

Domain	Start	End	E-Value	Type
low complexity region	362	391	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC
Pfam:Peptidase_M14	851	1099	1.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163149

SMART Domains

Protein: ENSMUSP00000126238
Gene: ENSMUSG00000021557

Domain	Start	End	E-Value	Type
low complexity region	250	279	N/A	INTRINSIC
low complexity region	477	491	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164215
AA Change: E1074G

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557
AA Change: E1074G

Domain	Start	End	E-Value	Type
low complexity region	362	391	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC
Pfam:Peptidase_M14	847	1123	1.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169745

Predicted Effect

probably benign
Transcript: ENSMUST00000170555

SMART Domains

Protein: ENSMUSP00000128589
Gene: ENSMUSG00000021557

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	34	309	2.4e-7	PFAM
low complexity region	362	391	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC
low complexity region	787	795	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224397
AA Change: E131G

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225133

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]
PHENOTYPE: Homozygotes show moderate ataxia due to degeneration of Purkinje cells of the cerebellum. Also, there is gradual degeneration of retina photoreceptor cells, olfactory bulb mitral cells and some thalamic neurons. Males have abnormal sperm and are sterile. [provided by MGI curators]

Allele List at MGI

All alleles(17) : Gene trapped(6) Transgenic(1) Spontaneous(6) Chemically induced(4)

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,314,377 (GRCm39)	I297T	probably damaging	Het
Ankrd12	A	G	17: 66,290,960 (GRCm39)	L1491S	probably benign	Het
Arid4b	T	C	13: 14,310,846 (GRCm39)		probably null	Het
Aspm	T	A	1: 139,389,214 (GRCm39)	S626T	probably benign	Het
Catsperg1	A	G	7: 28,897,571 (GRCm39)	S238P	probably damaging	Het
Clns1a	A	G	7: 97,365,721 (GRCm39)	H241R	probably damaging	Het
Cryzl2	T	C	1: 157,298,246 (GRCm39)	F212L	probably benign	Het
Epha5	A	T	5: 84,254,559 (GRCm39)	V519E	probably damaging	Het
Kcnq3	T	C	15: 65,867,603 (GRCm39)	D680G	possibly damaging	Het
Kras	T	C	6: 145,192,474 (GRCm39)	T20A	probably damaging	Het
Myh13	T	C	11: 67,225,830 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,616,121 (GRCm39)		probably benign	Het
Pde8a	G	A	7: 80,932,762 (GRCm39)		probably null	Het
Rasgef1a	A	T	6: 118,065,164 (GRCm39)	K384M	probably damaging	Het
Selenov	A	G	7: 27,989,851 (GRCm39)	S218P	probably damaging	Het
Tg	T	A	15: 66,555,662 (GRCm39)	Y785N	probably damaging	Het
Ttll13	G	T	7: 79,909,297 (GRCm39)	A661S	possibly damaging	Het

Other mutations in Agtpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Agtpbp1	APN	13	59,597,986 (GRCm39)	missense	probably damaging	1.00
IGL01298:Agtpbp1	APN	13	59,652,040 (GRCm39)	missense	possibly damaging	0.77
IGL01628:Agtpbp1	APN	13	59,655,877 (GRCm39)	splice site	probably benign
IGL01921:Agtpbp1	APN	13	59,660,297 (GRCm39)	missense	possibly damaging	0.71
IGL02189:Agtpbp1	APN	13	59,648,275 (GRCm39)	missense	probably benign	0.01
IGL02325:Agtpbp1	APN	13	59,648,303 (GRCm39)	missense	probably benign	0.01
IGL02700:Agtpbp1	APN	13	59,676,233 (GRCm39)	missense	probably damaging	1.00
IGL02821:Agtpbp1	APN	13	59,630,415 (GRCm39)	missense	possibly damaging	0.69
IGL03130:Agtpbp1	APN	13	59,622,403 (GRCm39)	missense	possibly damaging	0.73
IGL03167:Agtpbp1	APN	13	59,679,894 (GRCm39)	splice site	probably benign
IGL03218:Agtpbp1	APN	13	59,648,021 (GRCm39)	missense	possibly damaging	0.94
bobs	UTSW	13	59,630,385 (GRCm39)	missense	possibly damaging	0.53
drunk	UTSW	13	59,660,136 (GRCm39)	critical splice donor site	probably benign
gru	UTSW	13	59,621,560 (GRCm39)	missense	probably damaging	1.00
rio	UTSW	13	59,673,055 (GRCm39)	critical splice acceptor site	probably benign
shreds	UTSW	13	59,609,902 (GRCm39)	missense	probably damaging	1.00
Unfocused	UTSW	13	59,609,884 (GRCm39)	nonsense	probably null
wobble	UTSW	13	59,622,364 (GRCm39)	missense	probably damaging	1.00
R0025:Agtpbp1	UTSW	13	59,648,014 (GRCm39)	missense	probably benign	0.00
R0025:Agtpbp1	UTSW	13	59,648,014 (GRCm39)	missense	probably benign	0.00
R0276:Agtpbp1	UTSW	13	59,609,845 (GRCm39)	missense	possibly damaging	0.93
R0413:Agtpbp1	UTSW	13	59,661,966 (GRCm39)	missense	probably damaging	0.99
R0559:Agtpbp1	UTSW	13	59,644,814 (GRCm39)	missense	probably benign	0.32
R0848:Agtpbp1	UTSW	13	59,681,753 (GRCm39)	intron	probably benign
R0943:Agtpbp1	UTSW	13	59,648,416 (GRCm39)	missense	probably benign
R1196:Agtpbp1	UTSW	13	59,598,132 (GRCm39)	unclassified	probably benign
R1421:Agtpbp1	UTSW	13	59,643,389 (GRCm39)	missense	possibly damaging	0.86
R1531:Agtpbp1	UTSW	13	59,648,448 (GRCm39)	splice site	probably null
R1833:Agtpbp1	UTSW	13	59,613,797 (GRCm39)	critical splice donor site	probably null
R1864:Agtpbp1	UTSW	13	59,598,016 (GRCm39)	missense	possibly damaging	0.92
R1994:Agtpbp1	UTSW	13	59,678,872 (GRCm39)	missense	probably damaging	1.00
R1995:Agtpbp1	UTSW	13	59,678,872 (GRCm39)	missense	probably damaging	1.00
R2001:Agtpbp1	UTSW	13	59,623,617 (GRCm39)	frame shift	probably null
R2006:Agtpbp1	UTSW	13	59,648,135 (GRCm39)	missense	probably benign	0.00
R2397:Agtpbp1	UTSW	13	59,622,383 (GRCm39)	missense	probably benign	0.10
R2918:Agtpbp1	UTSW	13	59,644,829 (GRCm39)	missense	possibly damaging	0.90
R3873:Agtpbp1	UTSW	13	59,608,410 (GRCm39)	missense	possibly damaging	0.88
R3924:Agtpbp1	UTSW	13	59,648,221 (GRCm39)	missense	probably benign	0.01
R4649:Agtpbp1	UTSW	13	59,676,213 (GRCm39)	missense	possibly damaging	0.89
R4913:Agtpbp1	UTSW	13	59,647,886 (GRCm39)	missense	probably damaging	1.00
R4933:Agtpbp1	UTSW	13	59,648,386 (GRCm39)	missense	probably benign
R4969:Agtpbp1	UTSW	13	59,648,392 (GRCm39)	missense	probably benign
R5066:Agtpbp1	UTSW	13	59,622,364 (GRCm39)	missense	probably damaging	1.00
R5139:Agtpbp1	UTSW	13	59,648,027 (GRCm39)	missense	probably damaging	0.99
R5194:Agtpbp1	UTSW	13	59,648,453 (GRCm39)	missense	probably benign	0.19
R5269:Agtpbp1	UTSW	13	59,621,557 (GRCm39)	missense	probably damaging	1.00
R5352:Agtpbp1	UTSW	13	59,621,560 (GRCm39)	missense	probably damaging	1.00
R5558:Agtpbp1	UTSW	13	59,630,394 (GRCm39)	missense	probably benign	0.05
R5687:Agtpbp1	UTSW	13	59,648,329 (GRCm39)	missense	probably benign
R5824:Agtpbp1	UTSW	13	59,613,913 (GRCm39)	missense	probably damaging	1.00
R5979:Agtpbp1	UTSW	13	59,681,860 (GRCm39)	nonsense	probably null
R6109:Agtpbp1	UTSW	13	59,621,560 (GRCm39)	missense	probably damaging	1.00
R6264:Agtpbp1	UTSW	13	59,598,114 (GRCm39)	missense	possibly damaging	0.89
R6413:Agtpbp1	UTSW	13	59,647,834 (GRCm39)	missense	possibly damaging	0.90
R6498:Agtpbp1	UTSW	13	59,624,854 (GRCm39)	missense	possibly damaging	0.71
R6747:Agtpbp1	UTSW	13	59,692,167 (GRCm39)	splice site	probably null
R6950:Agtpbp1	UTSW	13	59,598,080 (GRCm39)	missense	probably benign	0.32
R7030:Agtpbp1	UTSW	13	59,652,108 (GRCm39)	missense	probably damaging	1.00
R7180:Agtpbp1	UTSW	13	59,613,852 (GRCm39)	missense	probably benign	0.11
R7196:Agtpbp1	UTSW	13	59,680,994 (GRCm39)	missense	possibly damaging	0.83
R7535:Agtpbp1	UTSW	13	59,652,067 (GRCm39)	missense	probably benign
R7683:Agtpbp1	UTSW	13	59,660,312 (GRCm39)	missense	probably damaging	1.00
R7713:Agtpbp1	UTSW	13	59,661,966 (GRCm39)	missense	probably damaging	0.99
R8081:Agtpbp1	UTSW	13	59,676,221 (GRCm39)	nonsense	probably null
R8210:Agtpbp1	UTSW	13	59,630,385 (GRCm39)	missense	possibly damaging	0.53
R8861:Agtpbp1	UTSW	13	59,643,287 (GRCm39)	missense	probably damaging	1.00
R9163:Agtpbp1	UTSW	13	59,609,884 (GRCm39)	nonsense	probably null
R9199:Agtpbp1	UTSW	13	59,613,808 (GRCm39)	missense	probably benign	0.00
R9389:Agtpbp1	UTSW	13	59,613,884 (GRCm39)	missense	probably damaging	1.00
R9414:Agtpbp1	UTSW	13	59,609,902 (GRCm39)	missense	probably damaging	1.00
R9435:Agtpbp1	UTSW	13	59,622,429 (GRCm39)	missense	probably benign	0.35

Posted On

2012-12-06