Incidental Mutation 'IGL01673:Gpn1'
| ID |
103552 |
| 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: 0.965)
|
| Stock # |
IGL01673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31652085-31670248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 31652179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 21
(C21W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076949]
[ENSMUST00000201053]
[ENSMUST00000202394]
|
| AlphaFold |
Q8VCE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076949
AA Change: C21W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037
AA Change: C21W
| 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 |
noncoding transcript
Transcript: ENSMUST00000200870
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201053
AA Change: C21W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144015
Gene: ENSMUSG00000064037
AA Change: C21W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_1
|
24 |
73 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201942
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202394
AA Change: C21W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144105
Gene: ENSMUSG00000064037
AA Change: C21W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_1
|
24 |
87 |
1.8e-26 |
PFAM |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cpz |
A |
T |
5: 35,669,891 (GRCm39) |
V262E |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,125 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
G |
T |
13: 55,800,861 (GRCm39) |
V339F |
probably damaging |
Het |
| Gpr63 |
A |
T |
4: 25,008,014 (GRCm39) |
Q246L |
probably benign |
Het |
| Hsp90b1 |
T |
A |
10: 86,529,296 (GRCm39) |
M658L |
probably damaging |
Het |
| Immp2l |
T |
C |
12: 41,118,320 (GRCm39) |
S4P |
probably benign |
Het |
| Krtap9-5 |
A |
T |
11: 99,840,377 (GRCm39) |
*359C |
probably null |
Het |
| Lgals7 |
A |
G |
7: 28,565,621 (GRCm39) |
|
probably benign |
Het |
| Mak |
G |
T |
13: 41,201,699 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,946,672 (GRCm39) |
R13G |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,703,915 (GRCm39) |
V1946A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,636,307 (GRCm39) |
|
probably benign |
Het |
| Nkx2-4 |
C |
T |
2: 146,925,834 (GRCm39) |
V343M |
possibly damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,731 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,316 (GRCm39) |
V302A |
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 72,071,781 (GRCm39) |
S743I |
probably damaging |
Het |
| Tcf7 |
A |
G |
11: 52,147,823 (GRCm39) |
C210R |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,605 (GRCm39) |
I162F |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,641 (GRCm39) |
Q108R |
probably damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,317 (GRCm39) |
I206F |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,627,922 (GRCm39) |
I872T |
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 |
|
IGL01921:Gpn1
|
APN |
5 |
31,656,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03243:Gpn1
|
APN |
5 |
31,668,175 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
2014-01-21 |
Incidental Mutation