Mutagenetix > Incidental Mutations

Incidental Mutation 'R0025:Agtpbp1'

40815

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

038320-MU

Accession Numbers

Genbank: NM_023328; MGI: 2159437

Is this an essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R0025 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59445742-59585227 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59500200 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 602 (T602I)

Ref Sequence

ENSEMBL: ENSMUSP00000132697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022040] [ENSMUST00000109830] [ENSMUST00000164215] [ENSMUST00000165477] [ENSMUST00000169745] [ENSMUST00000170555] [ENSMUST00000171606]

Predicted Effect

probably benign
Transcript: ENSMUST00000022040
AA Change: T602I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: T602I

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: ENSMUST00000109830
AA Change: T602I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105456
Gene: ENSMUSG00000021557
AA Change: T602I

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	34	309	2.3e-7	PFAM
low complexity region	362	391	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000163149
AA Change: T489I

SMART Domains

Protein: ENSMUSP00000126238
Gene: ENSMUSG00000021557
AA Change: T489I

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
AA Change: T602I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557
AA Change: T602I

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: ENSMUST00000165477

Predicted Effect

probably benign
Transcript: ENSMUST00000169745

Predicted Effect

probably benign
Transcript: ENSMUST00000170555
AA Change: T602I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128589
Gene: ENSMUSG00000021557
AA Change: T602I

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: ENSMUST00000171606
AA Change: T602I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132697
Gene: ENSMUSG00000021557
AA Change: T602I

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	34	309	2.3e-7	PFAM
low complexity region	362	391	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

98% (115/117)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	11: 76,000,115		probably benign	Het
Acsm1	A	T	7: 119,658,315	T435S	probably damaging	Het
Ahnak2	T	A	12: 112,785,534	D231V	probably damaging	Het
Ampd3	G	A	7: 110,793,669	D215N	probably benign	Het
Ankrd17	T	C	5: 90,250,405	D1762G	probably damaging	Het
Asb8	C	T	15: 98,142,671	V37I	possibly damaging	Het
Bicra	T	C	7: 15,987,511	T694A	possibly damaging	Het
Btnl6	A	T	17: 34,514,299	M234K	probably benign	Het
Ccnb1	A	T	13: 100,779,781	V336D	probably damaging	Het
Cdca8	A	T	4: 124,921,254	L190Q	possibly damaging	Het
Cep290	A	T	10: 100,537,831	L1324F	probably damaging	Het
Ces1f	T	C	8: 93,271,885	E161G	probably benign	Het
Ces2g	A	G	8: 104,965,996		probably benign	Het
Cfap74	C	T	4: 155,426,115	R386C	probably benign	Het
Clec3b	A	G	9: 123,157,025	T163A	probably benign	Het
Cntnap4	T	G	8: 112,803,164	L668R	probably damaging	Het
Col27a1	A	G	4: 63,275,977	D857G	probably damaging	Het
Csf1	A	G	3: 107,748,644	V245A	probably benign	Het
Ctss	A	G	3: 95,550,137	Y302C	probably damaging	Het
Cyb5d1	A	G	11: 69,394,966		probably null	Het
Cyp1a2	A	G	9: 57,682,061	S157P	probably damaging	Het
Cyp2b9	A	T	7: 26,200,813	T349S	probably benign	Het
Dennd6b	T	C	15: 89,186,183	I428V	probably benign	Het
Denr	A	G	5: 123,927,235		probably benign	Het
Dnah9	G	A	11: 65,969,955		probably benign	Het
Dock3	G	T	9: 106,913,268	Q1419K	possibly damaging	Het
Dph3b-ps	A	T	13: 106,546,867		noncoding transcript	Het
Emc7	G	T	2: 112,459,485	D87Y	probably damaging	Het
Enah	T	C	1: 181,913,373	E462G	possibly damaging	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Enpp6	A	G	8: 47,066,000	K268E	probably damaging	Het
Eps15l1	T	G	8: 72,381,497		probably benign	Het
Fam151a	T	C	4: 106,748,174	Y578H	probably benign	Het
Fmn2	T	C	1: 174,791,314	V1512A	probably damaging	Het
Focad	C	A	4: 88,408,959	N168K	probably benign	Het
Fyco1	A	G	9: 123,829,009	C701R	probably damaging	Het
Gabbr1	G	T	17: 37,067,210		probably benign	Het
Golga7b	A	T	19: 42,266,839	E76V	probably damaging	Het
Gucy2d	A	G	7: 98,467,752	D924G	probably benign	Het
H2-M9	A	G	17: 36,641,755	F133S	probably damaging	Het
Hc	A	G	2: 34,986,292	Y1581H	probably damaging	Het
Herc3	C	T	6: 58,874,308	P514L	probably damaging	Het
Hormad1	T	C	3: 95,585,125		probably benign	Het
Iigp1	T	A	18: 60,390,787	S326T	possibly damaging	Het
Itga2	G	A	13: 114,870,496	S432L	possibly damaging	Het
Kcnk7	T	G	19: 5,707,014	*344G	probably null	Het
Kif13a	A	G	13: 46,786,511		probably null	Het
Kif1a	A	C	1: 93,042,358	I1027S	probably damaging	Het
Kif2c	G	T	4: 117,165,517	H416Q	probably damaging	Het
Map3k1	A	G	13: 111,756,129	V864A	probably benign	Het
Mark2	T	C	19: 7,285,922	D160G	probably damaging	Het
Mbd4	A	G	6: 115,844,568		probably null	Het
Micu1	A	G	10: 59,788,877		probably null	Het
Mink1	T	C	11: 70,613,042	W1263R	probably damaging	Het
Mov10	A	C	3: 104,804,603	L224R	probably damaging	Het
Ndel1	T	C	11: 68,836,173	E226G	probably damaging	Het
Neb	A	T	2: 52,222,774	V4336E	probably damaging	Het
Nln	T	A	13: 104,036,891	K602N	probably damaging	Het
Nlrp14	A	T	7: 107,181,258		probably benign	Het
Nmd3	A	T	3: 69,748,321	D445V	probably damaging	Het
Nop14	T	C	5: 34,643,953	I625V	probably benign	Het
Notch1	T	C	2: 26,470,931	Q1134R	probably damaging	Het
Nr4a2	T	C	2: 57,108,615	I392M	probably benign	Het
Olfr1310	T	A	2: 112,009,020	L55F	probably damaging	Het
Olfr702	A	G	7: 106,823,756	F257L	possibly damaging	Het
Olfr983	A	G	9: 40,092,253	S234P	probably damaging	Het
Osbp	T	C	19: 11,983,958	Y454H	probably damaging	Het
Pak4	G	A	7: 28,564,283	R343C	probably damaging	Het
Pak7	T	C	2: 136,100,784	K479E	possibly damaging	Het
Pard3	C	A	8: 127,161,308	D73E	probably damaging	Het
Pcdh10	T	C	3: 45,380,499	V416A	possibly damaging	Het
Plek	A	C	11: 16,985,594	W261G	probably damaging	Het
Pmp22	A	T	11: 63,158,250		probably null	Het
Prph2	A	C	17: 46,919,771	K197Q	probably benign	Het
Prss45	T	A	9: 110,840,894	L257Q	probably damaging	Het
Psmb6	C	A	11: 70,526,345	H73Q	probably benign	Het
Rin2	T	C	2: 145,878,832		probably benign	Het
Rps6kb1	A	T	11: 86,511,587		probably null	Het
Scn10a	C	A	9: 119,670,484	D248Y	probably damaging	Het
Scn4a	C	T	11: 106,324,560	V1197I	probably benign	Het
Siglecf	A	T	7: 43,351,925	I106F	probably benign	Het
Sik1	A	G	17: 31,847,275		probably benign	Het
Slc22a21	T	G	11: 53,979,688	N57T	probably damaging	Het
Slc36a2	A	G	11: 55,162,795	L339P	probably damaging	Het
Slc4a9	G	T	18: 36,531,666		probably benign	Het
Smg1	G	A	7: 118,212,443	T104I	possibly damaging	Het
Stc2	A	T	11: 31,365,559		probably null	Het
Stx18	T	A	5: 38,092,564	Y74N	probably damaging	Het
Stxbp5	A	T	10: 9,762,748	H1102Q	probably damaging	Het
Tnfaip8l2	G	A	3: 95,140,028	L175F	probably damaging	Het
Tom1l2	T	C	11: 60,230,134	K450E	probably damaging	Het
Tpo	T	C	12: 30,100,390	Q497R	probably benign	Het
Tprgl	G	T	4: 154,160,345		probably benign	Het
Triml2	A	G	8: 43,185,432	M146V	probably benign	Het
Tsc2	A	G	17: 24,631,004		probably benign	Het
Vit	G	A	17: 78,599,835	G229R	probably benign	Het
Vmn2r19	C	T	6: 123,331,547	L528F	probably benign	Het
Vwf	T	A	6: 125,682,812	I2658N	probably benign	Het
Wdfy3	T	C	5: 101,845,046	D3341G	probably damaging	Het
Wdr36	T	A	18: 32,859,307	D632E	probably damaging	Het
Wdr47	G	T	3: 108,637,991	A733S	probably damaging	Het
Zcchc6	A	T	13: 59,805,328	D99E	probably benign	Het
Zfp458	T	A	13: 67,257,898	H156L	probably damaging	Het
Zfp654	A	G	16: 64,784,818	V466A	probably benign	Het
Zfp804b	T	C	5: 6,771,665	E466G	probably damaging	Het
Zfp941	T	C	7: 140,813,272	D58G	probably benign	Het

Other mutations in Agtpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Agtpbp1	APN	13	59450172	missense	probably damaging	1.00
IGL00808:Agtpbp1	APN	13	59462094	missense	possibly damaging	0.84
IGL01298:Agtpbp1	APN	13	59504226	missense	possibly damaging	0.77
IGL01628:Agtpbp1	APN	13	59508063	splice site	probably benign
IGL01921:Agtpbp1	APN	13	59512483	missense	possibly damaging	0.71
IGL02189:Agtpbp1	APN	13	59500461	missense	probably benign	0.01
IGL02325:Agtpbp1	APN	13	59500489	missense	probably benign	0.01
IGL02700:Agtpbp1	APN	13	59528419	missense	probably damaging	1.00
IGL02821:Agtpbp1	APN	13	59482601	missense	possibly damaging	0.69
IGL03130:Agtpbp1	APN	13	59474589	missense	possibly damaging	0.73
IGL03167:Agtpbp1	APN	13	59532080	splice site	probably benign
IGL03218:Agtpbp1	APN	13	59500207	missense	possibly damaging	0.94
bobs	UTSW	13	59482571	missense	possibly damaging	0.53
drunk	UTSW	13	59512323	critical splice donor site	probably benign
gru	UTSW	13	59473746	missense	probably damaging	1.00
rio	UTSW	13	59525241	critical splice acceptor site	probably benign
wobble	UTSW	13	59474550	missense	probably damaging	1.00
R0025:Agtpbp1	UTSW	13	59500200	missense	probably benign	0.00
R0276:Agtpbp1	UTSW	13	59462031	missense	possibly damaging	0.93
R0413:Agtpbp1	UTSW	13	59514152	missense	probably damaging	0.99
R0559:Agtpbp1	UTSW	13	59497000	missense	probably benign	0.32
R0848:Agtpbp1	UTSW	13	59533939	intron	probably benign
R0943:Agtpbp1	UTSW	13	59500602	missense	probably benign
R1196:Agtpbp1	UTSW	13	59450318	unclassified	probably benign
R1421:Agtpbp1	UTSW	13	59495575	missense	possibly damaging	0.86
R1531:Agtpbp1	UTSW	13	59500634	splice site	probably null
R1833:Agtpbp1	UTSW	13	59465983	critical splice donor site	probably null
R1864:Agtpbp1	UTSW	13	59450202	missense	possibly damaging	0.92
R1994:Agtpbp1	UTSW	13	59531058	missense	probably damaging	1.00
R1995:Agtpbp1	UTSW	13	59531058	missense	probably damaging	1.00
R2001:Agtpbp1	UTSW	13	59475803	frame shift	probably null
R2006:Agtpbp1	UTSW	13	59500321	missense	probably benign	0.00
R2397:Agtpbp1	UTSW	13	59474569	missense	probably benign	0.10
R2918:Agtpbp1	UTSW	13	59497015	missense	possibly damaging	0.90
R3873:Agtpbp1	UTSW	13	59460596	missense	possibly damaging	0.88
R3924:Agtpbp1	UTSW	13	59500407	missense	probably benign	0.01
R4649:Agtpbp1	UTSW	13	59528399	missense	possibly damaging	0.89
R4913:Agtpbp1	UTSW	13	59500072	missense	probably damaging	1.00
R4933:Agtpbp1	UTSW	13	59500572	missense	probably benign
R4969:Agtpbp1	UTSW	13	59500578	missense	probably benign
R5066:Agtpbp1	UTSW	13	59474550	missense	probably damaging	1.00
R5139:Agtpbp1	UTSW	13	59500213	missense	probably damaging	0.99
R5194:Agtpbp1	UTSW	13	59500639	missense	probably benign	0.19
R5269:Agtpbp1	UTSW	13	59473743	missense	probably damaging	1.00
R5352:Agtpbp1	UTSW	13	59473746	missense	probably damaging	1.00
R5558:Agtpbp1	UTSW	13	59482580	missense	probably benign	0.05
R5687:Agtpbp1	UTSW	13	59500515	missense	probably benign
R5824:Agtpbp1	UTSW	13	59466099	missense	probably damaging	1.00
R5979:Agtpbp1	UTSW	13	59534046	nonsense	probably null
R6109:Agtpbp1	UTSW	13	59473746	missense	probably damaging	1.00
R6264:Agtpbp1	UTSW	13	59450300	missense	possibly damaging	0.89
R6413:Agtpbp1	UTSW	13	59500020	missense	possibly damaging	0.90
R6498:Agtpbp1	UTSW	13	59477040	missense	possibly damaging	0.71
R6747:Agtpbp1	UTSW	13	59544353	splice site	probably null
R6950:Agtpbp1	UTSW	13	59450266	missense	probably benign	0.32
R7030:Agtpbp1	UTSW	13	59504294	missense	probably damaging	1.00
R7180:Agtpbp1	UTSW	13	59466038	missense	probably benign	0.11
R7196:Agtpbp1	UTSW	13	59533180	missense	possibly damaging	0.83
R7535:Agtpbp1	UTSW	13	59504253	missense	probably benign
R7683:Agtpbp1	UTSW	13	59512498	missense	probably damaging	1.00
R7713:Agtpbp1	UTSW	13	59514152	missense	probably damaging	0.99
R8081:Agtpbp1	UTSW	13	59528407	nonsense	probably null
R8210:Agtpbp1	UTSW	13	59482571	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GCCTGATCCGATGCTCTGTTATCTG -3'
(R):5'- CTCACTGTCCTCTCATGCACGAAAG -3'

Sequencing Primer
(F):5'- AAGGAAGTCTGTGACTCACCTTTG -3'
(R):5'- TCATGCACGAAAGCTTGTCC -3'

Posted On

2013-05-23