Incidental Mutation 'IGL01431:Gpn1'
| ID |
84118 |
| 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 # |
IGL01431
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31652085-31670248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31664882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 302
(V302A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076949]
|
| AlphaFold |
Q8VCE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076949
AA Change: V302A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037
AA Change: V302A
| 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: ENSMUST00000201881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201942
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,089,838 (GRCm39) |
I897T |
possibly damaging |
Het |
| Aqp2 |
G |
A |
15: 99,477,301 (GRCm39) |
V90M |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,680,571 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,274,301 (GRCm39) |
Y607H |
probably damaging |
Het |
| Cer1 |
T |
A |
4: 82,801,068 (GRCm39) |
E198D |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,453,278 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
C |
T |
1: 87,079,226 (GRCm39) |
R484H |
probably damaging |
Het |
| Entpd7 |
C |
A |
19: 43,718,278 (GRCm39) |
H575Q |
probably benign |
Het |
| F11r |
T |
C |
1: 171,290,477 (GRCm39) |
V279A |
probably damaging |
Het |
| Gm17093 |
T |
A |
14: 44,759,122 (GRCm39) |
|
probably benign |
Het |
| Got1 |
T |
A |
19: 43,491,488 (GRCm39) |
K321* |
probably null |
Het |
| Hivep1 |
G |
T |
13: 42,311,493 (GRCm39) |
K1244N |
probably damaging |
Het |
| Idh3b |
T |
C |
2: 130,123,817 (GRCm39) |
T116A |
possibly damaging |
Het |
| Itgb4 |
C |
A |
11: 115,897,283 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
G |
T |
1: 9,742,872 (GRCm39) |
L579I |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,263,782 (GRCm39) |
T1694S |
probably null |
Het |
| Mylk3 |
T |
C |
8: 86,063,030 (GRCm39) |
D537G |
probably damaging |
Het |
| Myo1d |
A |
C |
11: 80,565,665 (GRCm39) |
F387V |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,361,361 (GRCm39) |
Y448C |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,508 (GRCm39) |
H191Q |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,832,804 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
A |
T |
2: 111,055,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
T |
A |
1: 75,121,749 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
G |
A |
16: 94,129,402 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Robo3 |
G |
A |
9: 37,330,407 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
C |
A |
7: 102,106,759 (GRCm39) |
|
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,498,666 (GRCm39) |
R269S |
probably benign |
Het |
| Sbp |
A |
T |
17: 24,164,322 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,525,110 (GRCm39) |
Q162L |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,980,144 (GRCm39) |
Y67C |
probably damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,309,103 (GRCm39) |
R233K |
probably damaging |
Het |
| Smoc1 |
C |
A |
12: 81,199,525 (GRCm39) |
S220* |
probably null |
Het |
| Stab1 |
C |
A |
14: 30,870,952 (GRCm39) |
R1299I |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,805,074 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
T |
G |
7: 118,151,985 (GRCm39) |
D312A |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,327 (GRCm39) |
S70P |
possibly damaging |
Het |
| Zfc3h1 |
C |
A |
10: 115,259,128 (GRCm39) |
T1591K |
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 |
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation