Incidental Mutation 'R2397:Agtpbp1'
| ID |
248565 |
| 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 |
040364-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.815)
|
| Stock # |
R2397 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59597348-59705184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59622383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 948
(V948I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022040]
[ENSMUST00000164215]
[ENSMUST00000165477]
[ENSMUST00000169745]
[ENSMUST00000170555]
[ENSMUST00000224397]
|
| AlphaFold |
Q641K1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022040
AA Change: V948I
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022040
Gene: ENSMUSG00000021557
AA Change: V948I
| 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
AA Change: V948I
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130939
Gene: ENSMUSG00000021557
AA Change: V948I
| 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: ENSMUST00000168141
|
| 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
AA Change: V5I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Meta Mutation Damage Score |
0.0851 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
| Adamtsl1 |
C |
T |
4: 86,117,594 (GRCm39) |
R186W |
probably damaging |
Het |
| Atp13a2 |
A |
G |
4: 140,730,466 (GRCm39) |
T787A |
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,147 (GRCm39) |
N139I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,146,244 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,201,835 (GRCm39) |
I41T |
unknown |
Het |
| Cyp2d26 |
C |
T |
15: 82,678,236 (GRCm39) |
G47R |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,405,518 (GRCm39) |
M205K |
probably benign |
Het |
| Dyrk2 |
T |
A |
10: 118,697,273 (GRCm39) |
|
probably benign |
Het |
| Echs1 |
T |
C |
7: 139,692,390 (GRCm39) |
H119R |
possibly damaging |
Het |
| Ehf |
T |
A |
2: 103,107,164 (GRCm39) |
D120V |
probably damaging |
Het |
| Esrra |
A |
G |
19: 6,897,544 (GRCm39) |
L71P |
probably damaging |
Het |
| Fam228a |
A |
T |
12: 4,768,718 (GRCm39) |
S200R |
probably benign |
Het |
| Fibcd1 |
A |
T |
2: 31,724,435 (GRCm39) |
M191K |
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,393,556 (GRCm39) |
L521P |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,252,995 (GRCm39) |
L154P |
probably damaging |
Het |
| Gm7964 |
T |
G |
7: 83,406,321 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
T |
C |
5: 110,353,743 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,537,717 (GRCm39) |
L197P |
probably damaging |
Het |
| Heg1 |
T |
A |
16: 33,562,849 (GRCm39) |
M913K |
probably damaging |
Het |
| Ifi205 |
T |
C |
1: 173,845,141 (GRCm39) |
T214A |
possibly damaging |
Het |
| Ift140 |
T |
G |
17: 25,239,710 (GRCm39) |
D122E |
probably damaging |
Het |
| Jakmip1 |
T |
A |
5: 37,258,087 (GRCm39) |
D244E |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
| Mc2r |
T |
A |
18: 68,541,224 (GRCm39) |
D23V |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,341,260 (GRCm39) |
F47I |
probably benign |
Het |
| Nr1h3 |
G |
A |
2: 91,022,202 (GRCm39) |
T142I |
possibly damaging |
Het |
| Obox2 |
C |
T |
7: 15,130,971 (GRCm39) |
P68S |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,384,518 (GRCm39) |
V515A |
probably benign |
Het |
| Ptdss2 |
T |
A |
7: 140,727,005 (GRCm39) |
F105I |
probably benign |
Het |
| Ruvbl1 |
A |
C |
6: 88,442,534 (GRCm39) |
T9P |
possibly damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,820,407 (GRCm39) |
E8G |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,251,702 (GRCm39) |
Y303* |
probably null |
Het |
| Socs5 |
T |
C |
17: 87,442,377 (GRCm39) |
F439S |
probably damaging |
Het |
| Tcp10c |
C |
A |
17: 13,590,473 (GRCm39) |
A357E |
probably damaging |
Het |
| Tmem200c |
T |
C |
17: 69,147,942 (GRCm39) |
V175A |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,269,859 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Vmn2r54 |
T |
G |
7: 12,349,578 (GRCm39) |
Q668P |
probably damaging |
Het |
| Xrcc2 |
T |
C |
5: 25,910,708 (GRCm39) |
S3G |
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 |
|
|
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 |
|
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'- AGTCTGACGCATTACCCACC -3'
(R):5'- AGTTCTAGAACCCCAAAGTGAAG -3'
Sequencing Primer
(F):5'- TGACGCATTACCCACCAAAAACTTG -3'
(R):5'- GCACAAGTCAATTTTTGTAGCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation