Incidental Mutation 'R6613:Gpn1'
| ID |
523761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpn1
|
| Ensembl Gene |
ENSMUSG00000064037 |
| Gene Name |
GPN-loop GTPase 1 |
| Synonyms |
Xab1, 2410004J02Rik |
| MMRRC Submission |
044736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6613 (G1)
|
| Quality Score |
154.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31652085-31670248 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 31654696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076949]
[ENSMUST00000201053]
[ENSMUST00000202394]
|
| AlphaFold |
Q8VCE2 |
| 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 damaging
Transcript: ENSMUST00000117700
AA Change: Y83H
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113826
Gene: ENSMUSG00000064037
AA Change: Y83H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_1
|
24 |
87 |
1.8e-26 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000202394
AA Change: Y83H
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144105
Gene: ENSMUSG00000064037
AA Change: Y83H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_1
|
24 |
87 |
1.8e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (37/38) |
| 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 |
|---|
| Ano2 |
G |
A |
6: 125,783,619 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,264,621 (GRCm39) |
I475N |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,939,788 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
G |
8: 120,482,760 (GRCm39) |
L874R |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,044,448 (GRCm39) |
S343R |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,952,539 (GRCm39) |
S1167T |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,205,460 (GRCm39) |
G139S |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,191 (GRCm39) |
F317I |
probably benign |
Het |
| Cngb1 |
A |
T |
8: 95,992,638 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dcn |
A |
T |
10: 97,330,902 (GRCm39) |
T79S |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,091,076 (GRCm39) |
D668E |
probably benign |
Het |
| Dnajc28 |
C |
A |
16: 91,413,246 (GRCm39) |
E357* |
probably null |
Het |
| Dock7 |
A |
G |
4: 98,866,197 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Flot1 |
A |
G |
17: 36,136,703 (GRCm39) |
D167G |
probably damaging |
Het |
| Hyou1 |
A |
T |
9: 44,293,795 (GRCm39) |
I242F |
probably damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,447 (GRCm39) |
N256S |
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,914,384 (GRCm39) |
Q390* |
probably null |
Het |
| Lhfpl2 |
T |
A |
13: 94,311,003 (GRCm39) |
F91Y |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,722,654 (GRCm39) |
T408I |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,839 (GRCm39) |
N479D |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,539,770 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,077,728 (GRCm39) |
K1733E |
probably damaging |
Het |
| Or5k1 |
C |
A |
16: 58,617,894 (GRCm39) |
C105F |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,455 (GRCm39) |
I287T |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,372,367 (GRCm39) |
V1435A |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,579,722 (GRCm39) |
|
probably null |
Het |
| Scin |
A |
G |
12: 40,129,714 (GRCm39) |
Y360H |
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,246,890 (GRCm39) |
|
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,085 (GRCm39) |
S369P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,152,029 (GRCm39) |
C184S |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,424,653 (GRCm39) |
M607T |
possibly damaging |
Het |
| Ssc5d |
C |
T |
7: 4,936,292 (GRCm39) |
P513S |
possibly damaging |
Het |
| Trip10 |
A |
G |
17: 57,562,197 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,220 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,412 (GRCm39) |
V650A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGGGGTACTACTTGGC -3'
(R):5'- GGCATTGCTGAAATCTCTGATCTC -3'
Sequencing Primer
(F):5'- ACGGTGGCACTTGTACAATC -3'
(R):5'- AAGAGGGCGTCAGATCTCTTTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation