Mutagenetix > Incidental Mutation

Incidental Mutation 'R1196:Agtpbp1'

101141

Institutional Source

Beutler Lab

Gene Symbol

Agtpbp1

Ensembl Gene

ENSMUSG00000021557

Gene Name

ATP/GTP binding protein 1

Synonyms

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

MMRRC Submission

039268-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R1196 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

59597348-59705184 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 59598132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153569 (fasta)

Gene Model

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

AlphaFold

Q641K1

Predicted Effect

probably benign
Transcript: ENSMUST00000022040

SMART Domains

Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557

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

probably benign
Transcript: ENSMUST00000164215

SMART Domains

Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557

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

noncoding transcript
Transcript: ENSMUST00000166276

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

probably benign
Transcript: ENSMUST00000224397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225133

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 94.9%
20x: 86.8%

Validation Efficiency

97% (38/39)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,383,153 (GRCm39)	I2112T	probably benign	Het
Ash1l	T	C	3: 88,890,623 (GRCm39)	M834T	probably damaging	Het
Aspg	A	G	12: 112,082,958 (GRCm39)	T213A	possibly damaging	Het
Chpf2	T	C	5: 24,794,646 (GRCm39)	V272A	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ddah2	G	T	17: 35,280,503 (GRCm39)	D215Y	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Fbrsl1	T	A	5: 110,522,385 (GRCm39)	M150L	probably benign	Het
Hmces	T	A	6: 87,913,164 (GRCm39)	D306E	probably benign	Het
Itga2	C	T	13: 115,002,691 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,075,015 (GRCm39)		probably benign	Het
Krr1	T	A	10: 111,811,562 (GRCm39)	H85Q	probably benign	Het
Krt87	C	T	15: 101,389,314 (GRCm39)	R6Q	probably benign	Het
Krtap24-1	T	C	16: 88,408,530 (GRCm39)	M199V	probably benign	Het
Krtap5-2	A	T	7: 141,728,620 (GRCm39)	C353*	probably null	Het
Myo7a	T	G	7: 97,746,880 (GRCm39)	I178L	possibly damaging	Het
Myof	G	A	19: 37,899,408 (GRCm39)	T1043I	probably damaging	Het
Noc4l	C	T	5: 110,798,450 (GRCm39)	E247K	probably damaging	Het
Notch4	T	C	17: 34,787,837 (GRCm39)	C437R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or4p19	A	T	2: 88,242,890 (GRCm39)	N37K	probably damaging	Het
Or7e168	A	G	9: 19,719,928 (GRCm39)	I105V	probably benign	Het
Pank4	T	C	4: 155,062,630 (GRCm39)	F584L	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Ranbp2	T	A	10: 58,312,875 (GRCm39)	F1198L	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Tent5c	T	C	3: 100,380,316 (GRCm39)	T147A	possibly damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Unc13a	A	G	8: 72,107,630 (GRCm39)	I554T	probably damaging	Het
Zfc3h1	A	G	10: 115,247,866 (GRCm39)	D1023G	probably damaging	Het
Zfp791	T	A	8: 85,837,583 (GRCm39)	K94*	probably null	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
IGL00808:Agtpbp1	APN	13	59,609,908 (GRCm39)	missense	possibly damaging	0.84
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAAAGGGCTTCTTCTTGGGCAG -3'
(R):5'- TCTCACACAGCGCATTGGAATTACC -3'

Sequencing Primer
(F):5'- TCTTGGGCAGAAGGCTCATAATC -3'
(R):5'- GGCAGCTTTCAACTGTTAGAACC -3'

Posted On

2014-01-15