Incidental Mutation 'IGL01921:Gpn1'
| ID |
180108 |
| 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 # |
IGL01921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31652085-31670248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31656612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 105
(V105A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076949]
[ENSMUST00000201053]
[ENSMUST00000202394]
|
| AlphaFold |
Q8VCE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076949
AA Change: V105A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037
AA Change: V105A
| 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 benign
Transcript: ENSMUST00000201053
|
| SMART Domains |
Protein: ENSMUSP00000144015
Gene: ENSMUSG00000064037
| 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 benign
Transcript: ENSMUST00000202394
|
| SMART Domains |
Protein: ENSMUSP00000144105
Gene: ENSMUSG00000064037
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
| Ciao1 |
C |
T |
2: 127,084,755 (GRCm39) |
V328I |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
| Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
| Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
| Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
| Epc2 |
T |
A |
2: 49,422,209 (GRCm39) |
Y368N |
probably damaging |
Het |
| Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
| Gga1 |
T |
C |
15: 78,777,995 (GRCm39) |
M620T |
possibly damaging |
Het |
| Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
| Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,989 (GRCm39) |
|
probably benign |
Het |
| Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
| Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
| Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,220 (GRCm39) |
S406G |
possibly damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
| Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
| Uri1 |
T |
A |
7: 37,681,072 (GRCm39) |
K111* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
| Vmn1r71 |
C |
A |
7: 10,482,199 (GRCm39) |
R163L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
T |
C |
7: 6,328,569 (GRCm39) |
T7A |
possibly damaging |
Het |
| Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
probably benign |
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 |
|
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 |
2014-05-07 |
Incidental Mutation