Incidental Mutation 'IGL03243:Gpn1'
| ID |
414327 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpn1
|
| Ensembl Gene |
ENSMUSG00000064037 |
| Gene Name |
GPN-loop GTPase 1 |
| Synonyms |
Xab1, 2410004J02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL03243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31652085-31670248 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to A
at 31668175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065388]
[ENSMUST00000076949]
[ENSMUST00000076949]
[ENSMUST00000200721]
[ENSMUST00000201769]
|
| AlphaFold |
Q8VCE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065388
|
| SMART Domains |
Protein: ENSMUSP00000067337
Gene: ENSMUSG00000053134
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
|
BTP
|
149 |
228 |
5.13e-25 |
SMART |
|
low complexity region
|
378 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000076949
|
| SMART Domains |
Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
18 |
182 |
9.44e-4 |
SMART |
|
low complexity region
|
263 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000076949
|
| SMART Domains |
Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
18 |
182 |
9.44e-4 |
SMART |
|
low complexity region
|
263 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200721
|
| SMART Domains |
Protein: ENSMUSP00000144294
Gene: ENSMUSG00000053134
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
68 |
N/A |
INTRINSIC |
|
BTP
|
100 |
179 |
5.13e-25 |
SMART |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201769
|
| SMART Domains |
Protein: ENSMUSP00000144065
Gene: ENSMUSG00000053134
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
|
BTP
|
149 |
228 |
5.13e-25 |
SMART |
|
low complexity region
|
378 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202515
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,369,959 (GRCm39) |
T216A |
probably benign |
Het |
| Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
| Atp6v1c2 |
C |
T |
12: 17,339,122 (GRCm39) |
V210I |
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,300 (GRCm39) |
H200R |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
| Fcho2 |
G |
A |
13: 98,913,892 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
| Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
| Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
| Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
| Plek |
C |
A |
11: 16,945,319 (GRCm39) |
V4L |
possibly damaging |
Het |
| Sell |
T |
A |
1: 163,892,911 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
| Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,597 (GRCm39) |
N402S |
possibly damaging |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
| Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
| Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
possibly damaging |
Het |
|
| Other mutations in Gpn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Gpn1
|
APN |
5 |
31,655,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01431:Gpn1
|
APN |
5 |
31,664,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01673:Gpn1
|
APN |
5 |
31,652,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01921:Gpn1
|
APN |
5 |
31,656,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03343:Gpn1
|
APN |
5 |
31,662,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4480001:Gpn1
|
UTSW |
5 |
31,654,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Gpn1
|
UTSW |
5 |
31,666,747 (GRCm39) |
nonsense |
probably null |
|
|
R0001:Gpn1
|
UTSW |
5 |
31,652,961 (GRCm39) |
splice site |
probably benign |
|
|
R1301:Gpn1
|
UTSW |
5 |
31,660,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Gpn1
|
UTSW |
5 |
31,654,682 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1622:Gpn1
|
UTSW |
5 |
31,660,748 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2860:Gpn1
|
UTSW |
5 |
31,654,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Gpn1
|
UTSW |
5 |
31,654,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Gpn1
|
UTSW |
5 |
31,654,696 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4627:Gpn1
|
UTSW |
5 |
31,655,737 (GRCm39) |
nonsense |
probably null |
|
|
R5927:Gpn1
|
UTSW |
5 |
31,658,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6613:Gpn1
|
UTSW |
5 |
31,654,696 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6830:Gpn1
|
UTSW |
5 |
31,664,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Gpn1
|
UTSW |
5 |
31,660,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7372:Gpn1
|
UTSW |
5 |
31,658,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8716:Gpn1
|
UTSW |
5 |
31,656,642 (GRCm39) |
missense |
probably benign |
|
|
R9100:Gpn1
|
UTSW |
5 |
31,655,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9189:Gpn1
|
UTSW |
5 |
31,654,710 (GRCm39) |
missense |
unknown |
|
|
R9220:Gpn1
|
UTSW |
5 |
31,664,884 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0062:Gpn1
|
UTSW |
5 |
31,652,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation