Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Agtpbp1'

35402

Institutional Source

Beutler Lab

Gene Symbol

Agtpbp1

Ensembl Gene

ENSMUSG00000021557

Gene Name

ATP/GTP binding protein 1

Synonyms

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

MMRRC Submission

038498-MU

Accession Numbers

Genbank: NM_023328; MGI: 2159437

Essential gene?

Possibly essential (E-score: 0.727) question?

Stock #

R0276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59445742-59585227 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59462031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1095 (S1095N)

Ref Sequence

ENSEMBL: ENSMUSP00000130939 (fasta)

Gene Model

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

AlphaFold

Q641K1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022040
AA Change: S1095N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: S1095N

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: S1095N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557
AA Change: S1095N

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: S152N

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225133

Meta Mutation Damage Score

0.2106

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760 (GRCm38)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591 (GRCm38)	M1523K	possibly damaging	Het
Ang2	C	T	14: 51,195,518 (GRCm38)	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581 (GRCm38)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244 (GRCm38)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472 (GRCm38)		probably benign	Het
Aspm	T	C	1: 139,478,471 (GRCm38)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694 (GRCm38)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901 (GRCm38)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673 (GRCm38)		probably benign	Het
Baiap3	A	C	17: 25,243,687 (GRCm38)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837 (GRCm38)		probably null	Het
Bms1	G	A	6: 118,408,134 (GRCm38)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065 (GRCm38)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm38)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392 (GRCm38)	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440 (GRCm38)	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740 (GRCm38)		probably benign	Het
Cntrl	A	T	2: 35,151,732 (GRCm38)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741 (GRCm38)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959 (GRCm38)	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335 (GRCm38)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045 (GRCm38)	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998 (GRCm38)	R502Q	probably benign	Het
Efcab5	G	A	11: 77,140,923 (GRCm38)	R42W	probably damaging	Het
Efcab5	A	G	11: 77,129,876 (GRCm38)	M673T	probably damaging	Het
F2rl3	A	G	8: 72,762,798 (GRCm38)	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964 (GRCm38)	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674 (GRCm38)	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811 (GRCm38)	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928 (GRCm38)	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876 (GRCm38)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575 (GRCm38)		probably benign	Het
Haspin	A	T	11: 73,136,487 (GRCm38)	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147 (GRCm38)	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380 (GRCm38)	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493 (GRCm38)	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564 (GRCm38)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514 (GRCm38)	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650 (GRCm38)		probably benign	Het
Kmt2d	T	C	15: 98,850,311 (GRCm38)		probably benign	Het
Lars2	A	G	9: 123,438,121 (GRCm38)		probably benign	Het
Lilrb4a	T	C	10: 51,491,581 (GRCm38)	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788 (GRCm38)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263 (GRCm38)		probably benign	Het
Mc2r	A	T	18: 68,408,132 (GRCm38)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107 (GRCm38)		probably null	Het
Napg	C	T	18: 62,986,963 (GRCm38)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629 (GRCm38)		probably benign	Het
Nlk	T	C	11: 78,571,475 (GRCm38)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109 (GRCm38)	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498 (GRCm38)	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162 (GRCm38)		probably null	Het
Olfr1212	T	A	2: 88,958,755 (GRCm38)	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118 (GRCm38)	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023 (GRCm38)	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697 (GRCm38)	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179 (GRCm38)	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062 (GRCm38)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237 (GRCm38)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943 (GRCm38)	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707 (GRCm38)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246 (GRCm38)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049 (GRCm38)		probably benign	Het
Prrc2b	G	A	2: 32,219,654 (GRCm38)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396 (GRCm38)	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980 (GRCm38)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596 (GRCm38)	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735 (GRCm38)		probably null	Het
Rab5b	A	C	10: 128,686,746 (GRCm38)		probably null	Het
Rft1	T	A	14: 30,690,583 (GRCm38)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rsu1	A	T	2: 13,170,135 (GRCm38)		probably benign	Het
Senp6	A	G	9: 80,136,747 (GRCm38)	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919 (GRCm38)	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941 (GRCm38)	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940 (GRCm38)	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663 (GRCm38)		probably benign	Het
Snx29	T	C	16: 11,738,373 (GRCm38)	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894 (GRCm38)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469 (GRCm38)	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416 (GRCm38)		probably null	Het
Stx6	T	C	1: 155,174,163 (GRCm38)		probably benign	Het
Thbs4	G	A	13: 92,775,532 (GRCm38)	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502 (GRCm38)	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373 (GRCm38)		probably benign	Het
Top2a	A	G	11: 99,009,907 (GRCm38)		probably benign	Het
Tpd52l2	T	C	2: 181,502,059 (GRCm38)		probably null	Het
Trak1	A	G	9: 121,454,338 (GRCm38)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952 (GRCm38)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086 (GRCm38)	M1V	probably null	Het
Triobp	T	A	15: 78,973,676 (GRCm38)	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297 (GRCm38)		probably benign	Het
Usb1	A	G	8: 95,333,457 (GRCm38)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649 (GRCm38)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859 (GRCm38)	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307 (GRCm38)	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821 (GRCm38)	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507 (GRCm38)	C1089G	probably damaging	Het

Other mutations in Agtpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Agtpbp1	APN	13	59,450,172 (GRCm38)	missense	probably damaging	1.00
IGL00808:Agtpbp1	APN	13	59,462,094 (GRCm38)	missense	possibly damaging	0.84
IGL01298:Agtpbp1	APN	13	59,504,226 (GRCm38)	missense	possibly damaging	0.77
IGL01628:Agtpbp1	APN	13	59,508,063 (GRCm38)	splice site	probably benign
IGL01921:Agtpbp1	APN	13	59,512,483 (GRCm38)	missense	possibly damaging	0.71
IGL02189:Agtpbp1	APN	13	59,500,461 (GRCm38)	missense	probably benign	0.01
IGL02325:Agtpbp1	APN	13	59,500,489 (GRCm38)	missense	probably benign	0.01
IGL02700:Agtpbp1	APN	13	59,528,419 (GRCm38)	missense	probably damaging	1.00
IGL02821:Agtpbp1	APN	13	59,482,601 (GRCm38)	missense	possibly damaging	0.69
IGL03130:Agtpbp1	APN	13	59,474,589 (GRCm38)	missense	possibly damaging	0.73
IGL03167:Agtpbp1	APN	13	59,532,080 (GRCm38)	splice site	probably benign
IGL03218:Agtpbp1	APN	13	59,500,207 (GRCm38)	missense	possibly damaging	0.94
bobs	UTSW	13	59,482,571 (GRCm38)	missense	possibly damaging	0.53
drunk	UTSW	13	59,512,322 (GRCm38)	critical splice donor site	probably benign
gru	UTSW	13	59,473,746 (GRCm38)	missense	probably damaging	1.00
rio	UTSW	13	59,525,241 (GRCm38)	critical splice acceptor site	probably benign
shreds	UTSW	13	59,462,088 (GRCm38)	missense	probably damaging	1.00
Unfocused	UTSW	13	59,462,070 (GRCm38)	nonsense	probably null
wobble	UTSW	13	59,474,550 (GRCm38)	missense	probably damaging	1.00
R0025:Agtpbp1	UTSW	13	59,500,200 (GRCm38)	missense	probably benign	0.00
R0025:Agtpbp1	UTSW	13	59,500,200 (GRCm38)	missense	probably benign	0.00
R0413:Agtpbp1	UTSW	13	59,514,152 (GRCm38)	missense	probably damaging	0.99
R0559:Agtpbp1	UTSW	13	59,497,000 (GRCm38)	missense	probably benign	0.32
R0848:Agtpbp1	UTSW	13	59,533,939 (GRCm38)	intron	probably benign
R0943:Agtpbp1	UTSW	13	59,500,602 (GRCm38)	missense	probably benign
R1196:Agtpbp1	UTSW	13	59,450,318 (GRCm38)	unclassified	probably benign
R1421:Agtpbp1	UTSW	13	59,495,575 (GRCm38)	missense	possibly damaging	0.86
R1531:Agtpbp1	UTSW	13	59,500,634 (GRCm38)	splice site	probably null
R1833:Agtpbp1	UTSW	13	59,465,983 (GRCm38)	critical splice donor site	probably null
R1864:Agtpbp1	UTSW	13	59,450,202 (GRCm38)	missense	possibly damaging	0.92
R1994:Agtpbp1	UTSW	13	59,531,058 (GRCm38)	missense	probably damaging	1.00
R1995:Agtpbp1	UTSW	13	59,531,058 (GRCm38)	missense	probably damaging	1.00
R2001:Agtpbp1	UTSW	13	59,475,803 (GRCm38)	frame shift	probably null
R2006:Agtpbp1	UTSW	13	59,500,321 (GRCm38)	missense	probably benign	0.00
R2397:Agtpbp1	UTSW	13	59,474,569 (GRCm38)	missense	probably benign	0.10
R2918:Agtpbp1	UTSW	13	59,497,015 (GRCm38)	missense	possibly damaging	0.90
R3873:Agtpbp1	UTSW	13	59,460,596 (GRCm38)	missense	possibly damaging	0.88
R3924:Agtpbp1	UTSW	13	59,500,407 (GRCm38)	missense	probably benign	0.01
R4649:Agtpbp1	UTSW	13	59,528,399 (GRCm38)	missense	possibly damaging	0.89
R4913:Agtpbp1	UTSW	13	59,500,072 (GRCm38)	missense	probably damaging	1.00
R4933:Agtpbp1	UTSW	13	59,500,572 (GRCm38)	missense	probably benign
R4969:Agtpbp1	UTSW	13	59,500,578 (GRCm38)	missense	probably benign
R5066:Agtpbp1	UTSW	13	59,474,550 (GRCm38)	missense	probably damaging	1.00
R5139:Agtpbp1	UTSW	13	59,500,213 (GRCm38)	missense	probably damaging	0.99
R5194:Agtpbp1	UTSW	13	59,500,639 (GRCm38)	missense	probably benign	0.19
R5269:Agtpbp1	UTSW	13	59,473,743 (GRCm38)	missense	probably damaging	1.00
R5352:Agtpbp1	UTSW	13	59,473,746 (GRCm38)	missense	probably damaging	1.00
R5558:Agtpbp1	UTSW	13	59,482,580 (GRCm38)	missense	probably benign	0.05
R5687:Agtpbp1	UTSW	13	59,500,515 (GRCm38)	missense	probably benign
R5824:Agtpbp1	UTSW	13	59,466,099 (GRCm38)	missense	probably damaging	1.00
R5979:Agtpbp1	UTSW	13	59,534,046 (GRCm38)	nonsense	probably null
R6109:Agtpbp1	UTSW	13	59,473,746 (GRCm38)	missense	probably damaging	1.00
R6264:Agtpbp1	UTSW	13	59,450,300 (GRCm38)	missense	possibly damaging	0.89
R6413:Agtpbp1	UTSW	13	59,500,020 (GRCm38)	missense	possibly damaging	0.90
R6498:Agtpbp1	UTSW	13	59,477,040 (GRCm38)	missense	possibly damaging	0.71
R6747:Agtpbp1	UTSW	13	59,544,353 (GRCm38)	splice site	probably null
R6950:Agtpbp1	UTSW	13	59,450,266 (GRCm38)	missense	probably benign	0.32
R7030:Agtpbp1	UTSW	13	59,504,294 (GRCm38)	missense	probably damaging	1.00
R7180:Agtpbp1	UTSW	13	59,466,038 (GRCm38)	missense	probably benign	0.11
R7196:Agtpbp1	UTSW	13	59,533,180 (GRCm38)	missense	possibly damaging	0.83
R7535:Agtpbp1	UTSW	13	59,504,253 (GRCm38)	missense	probably benign
R7683:Agtpbp1	UTSW	13	59,512,498 (GRCm38)	missense	probably damaging	1.00
R7713:Agtpbp1	UTSW	13	59,514,152 (GRCm38)	missense	probably damaging	0.99
R8081:Agtpbp1	UTSW	13	59,528,407 (GRCm38)	nonsense	probably null
R8210:Agtpbp1	UTSW	13	59,482,571 (GRCm38)	missense	possibly damaging	0.53
R8861:Agtpbp1	UTSW	13	59,495,473 (GRCm38)	missense	probably damaging	1.00
R9163:Agtpbp1	UTSW	13	59,462,070 (GRCm38)	nonsense	probably null
R9199:Agtpbp1	UTSW	13	59,465,994 (GRCm38)	missense	probably benign	0.00
R9389:Agtpbp1	UTSW	13	59,466,070 (GRCm38)	missense	probably damaging	1.00
R9414:Agtpbp1	UTSW	13	59,462,088 (GRCm38)	missense	probably damaging	1.00
R9435:Agtpbp1	UTSW	13	59,474,615 (GRCm38)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TCAAAGTCAGGAGAGCATATCCCAGAG -3'
(R):5'- AAGTCTAATTATGATGCTGGAGCAGTGG -3'

Sequencing Primer
(F):5'- ctcttgcagagggcagtg -3'
(R):5'- CAGTGTTTCGATTAATAACCTCTGGC -3'

Posted On

2013-05-09