Mutagenetix > Incidental Mutation

Incidental Mutation 'R1864:Agtpbp1'

208544

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

039887-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R1864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59597348-59705184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59598016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1198 (Y1198H)

Ref Sequence

ENSEMBL: ENSMUSP00000022040 (fasta)

Gene Model

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

AlphaFold

Q641K1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022040
AA Change: Y1198H

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: Y1198H

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Akp3	TCACCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCACCAC	1: 87,055,489 (GRCm39)		probably benign	Het
Ankrd50	A	T	3: 38,508,610 (GRCm39)	N329K	probably benign	Het
Ano4	C	A	10: 88,807,253 (GRCm39)	G741V	probably damaging	Het
Anxa1	T	C	19: 20,357,053 (GRCm39)	D191G	probably benign	Het
Apc2	C	T	10: 80,149,482 (GRCm39)	T1512I	probably damaging	Het
Aph1b	A	T	9: 66,701,395 (GRCm39)	C81S	probably benign	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Arhgef28	A	T	13: 98,130,640 (GRCm39)	H399Q	probably benign	Het
Asic5	A	G	3: 81,919,294 (GRCm39)	E304G	probably benign	Het
B4galnt4	A	G	7: 140,650,446 (GRCm39)	Y771C	probably damaging	Het
Birc2	G	T	9: 7,819,518 (GRCm39)	Q465K	probably benign	Het
Btla	C	T	16: 45,070,737 (GRCm39)	T232I	probably damaging	Het
Ccl7	G	T	11: 81,937,378 (GRCm39)	K37N	probably benign	Het
Cdk17	T	C	10: 93,061,967 (GRCm39)	V233A	probably damaging	Het
Cenatac	A	G	9: 44,329,018 (GRCm39)	C66R	probably damaging	Het
Cilp2	C	A	8: 70,333,973 (GRCm39)	Q1008H	probably damaging	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Clcnka	T	C	4: 141,120,113 (GRCm39)	T269A	probably damaging	Het
Col12a1	A	T	9: 79,534,385 (GRCm39)		probably null	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cyp3a25	T	C	5: 145,931,739 (GRCm39)	D123G	probably damaging	Het
D630003M21Rik	A	T	2: 158,045,105 (GRCm39)	L808Q	probably damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx15	T	C	5: 52,342,043 (GRCm39)	T92A	possibly damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Diaph2	G	A	X: 128,860,876 (GRCm39)	R473Q	probably damaging	Het
Dnd1	A	G	18: 36,899,057 (GRCm39)	C11R	possibly damaging	Het
Dock1	A	C	7: 134,748,236 (GRCm39)	D1566A	probably benign	Het
Drp2	A	G	X: 133,327,864 (GRCm39)	I43V	probably benign	Het
Ecm2	T	C	13: 49,683,621 (GRCm39)	V533A	probably benign	Het
Ecpas	T	A	4: 58,849,942 (GRCm39)	H427L	possibly damaging	Het
Emilin1	A	G	5: 31,075,934 (GRCm39)	E725G	probably damaging	Het
Eml2	A	G	7: 18,935,803 (GRCm39)	Y487C	probably damaging	Het
Epg5	T	A	18: 78,018,246 (GRCm39)	L919H	probably damaging	Het
Fam187a	T	A	11: 102,776,837 (GRCm39)	S214T	probably damaging	Het
Flna	T	C	X: 73,283,869 (GRCm39)	T521A	probably benign	Het
Foxi1	T	A	11: 34,157,531 (GRCm39)	I165F	probably damaging	Het
Fxr2	A	T	11: 69,543,103 (GRCm39)	K633N	probably benign	Het
Gdpd5	T	C	7: 99,098,206 (GRCm39)	I209T	probably benign	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Grm7	A	T	6: 111,057,384 (GRCm39)	D328V	probably benign	Het
Heatr6	T	C	11: 83,660,056 (GRCm39)	S534P	probably damaging	Het
Heph	A	G	X: 95,573,092 (GRCm39)	T792A	probably damaging	Het
Hipk2	T	A	6: 38,695,870 (GRCm39)		probably null	Het
Hps3	T	A	3: 20,074,123 (GRCm39)		probably null	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Insc	T	C	7: 114,441,413 (GRCm39)	I409T	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Kcnma1	T	A	14: 23,853,230 (GRCm39)	Q108L	probably damaging	Het
Klc3	A	G	7: 19,131,966 (GRCm39)	V137A	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Lgr4	T	A	2: 109,841,742 (GRCm39)	F576I	possibly damaging	Het
Lypd6b	A	G	2: 49,837,459 (GRCm39)	I144V	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Mitf	A	T	6: 97,987,383 (GRCm39)	N159I	probably damaging	Het
Morc1	T	C	16: 48,412,893 (GRCm39)	I678T	probably benign	Het
Muc4	A	G	16: 32,576,625 (GRCm39)		probably benign	Het
Myo7a	T	C	7: 97,701,463 (GRCm39)	Y2115C	probably damaging	Het
Myof	T	C	19: 37,975,153 (GRCm39)	I182V	probably benign	Het
Ncor1	A	G	11: 62,272,245 (GRCm39)	V635A	probably damaging	Het
Neb	G	T	2: 52,102,772 (GRCm39)	Y4257*	probably null	Het
Npr2	T	A	4: 43,641,258 (GRCm39)	V428E	probably benign	Het
Nufip2	A	G	11: 77,583,124 (GRCm39)	D346G	probably damaging	Het
Obsl1	G	A	1: 75,469,753 (GRCm39)	S1088F	probably benign	Het
Or10s1	T	G	9: 39,986,081 (GRCm39)	I163M	possibly damaging	Het
Or2ag1	T	C	7: 106,313,030 (GRCm39)	N286S	possibly damaging	Het
Or4c127	T	A	2: 89,832,825 (GRCm39)	V25E	probably benign	Het
Or4k38	C	T	2: 111,166,052 (GRCm39)	V124M	possibly damaging	Het
Or5ac22	A	G	16: 59,135,378 (GRCm39)	Y131H	probably damaging	Het
Or8b9	T	A	9: 37,766,560 (GRCm39)	Y149N	probably damaging	Het
Pdgfrb	G	A	18: 61,204,789 (GRCm39)	V550I	probably benign	Het
Pi4ka	A	T	16: 17,185,389 (GRCm39)	L237*	probably null	Het
Pla2r1	G	A	2: 60,259,055 (GRCm39)	T1111M	probably benign	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Pnp	G	C	14: 51,185,430 (GRCm39)	A67P	probably benign	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prom2	T	C	2: 127,381,707 (GRCm39)	D203G	probably benign	Het
Pum1	T	C	4: 130,478,836 (GRCm39)	V486A	possibly damaging	Het
Rnf115	A	G	3: 96,635,153 (GRCm39)		probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rusc2	C	A	4: 43,421,719 (GRCm39)	A713D	possibly damaging	Het
Ryr3	A	T	2: 112,560,673 (GRCm39)	H3009Q	possibly damaging	Het
Serpina1d	C	A	12: 103,734,256 (GRCm39)	C16F	probably benign	Het
Serpinf2	G	T	11: 75,328,309 (GRCm39)	R80S	possibly damaging	Het
Sh2d4a	C	A	8: 68,781,967 (GRCm39)	Q192K	probably benign	Het
Sh3d21	T	A	4: 126,044,729 (GRCm39)		probably null	Het
Sh3rf2	T	A	18: 42,187,046 (GRCm39)	L55Q	probably damaging	Het
Shc4	T	C	2: 125,481,287 (GRCm39)	D255G	probably damaging	Het
Skint2	T	A	4: 112,483,106 (GRCm39)	H170Q	probably benign	Het
Slc29a4	A	G	5: 142,703,509 (GRCm39)	Y261C	probably damaging	Het
Slc35a5	A	T	16: 44,964,071 (GRCm39)	N102K	possibly damaging	Het
Slc38a3	A	T	9: 107,533,152 (GRCm39)	I307K	probably damaging	Het
Sv2b	A	T	7: 74,773,828 (GRCm39)	S548T	probably benign	Het
Tgfbi	T	C	13: 56,780,694 (GRCm39)	S524P	probably benign	Het
Tgm5	T	C	2: 120,905,699 (GRCm39)	D152G	probably damaging	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Trpm1	A	G	7: 63,917,764 (GRCm39)	K1258R	probably damaging	Het
Ttc22	T	C	4: 106,494,003 (GRCm39)	V321A	probably benign	Het
Ube2c	C	A	2: 164,611,943 (GRCm39)	A15E	probably benign	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Umod	A	T	7: 119,062,478 (GRCm39)	L631M	probably damaging	Het
Ush1c	G	A	7: 45,868,816 (GRCm39)	Q373*	probably null	Het
Vmn1r238	T	A	18: 3,123,040 (GRCm39)	R125*	probably null	Het
Wnt8b	T	C	19: 44,482,029 (GRCm39)	L14P	probably benign	Het
Wrn	G	A	8: 33,778,892 (GRCm39)	A563V	probably damaging	Het
Zfp268	A	T	4: 145,348,998 (GRCm39)	Q145L	possibly damaging	Het
Zfp608	A	G	18: 55,030,983 (GRCm39)	S986P	probably benign	Het
Znrf3	T	C	11: 5,233,373 (GRCm39)	H228R	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
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
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
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'- CTTCTTTGAGTCAGCTGTCTAAATG -3'
(R):5'- ATCGAAGCCTTGGGTCTCAG -3'

Sequencing Primer
(F):5'- GAGTCAGCTGTCTAAATGCTTGTCC -3'
(R):5'- GCTCTGTGTTACTGAGGTCAAG -3'

Posted On

2014-06-30