Incidental Mutation 'R6082:Gbp7'
ID |
482228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp7
|
Ensembl Gene |
ENSMUSG00000040253 |
Gene Name |
guanylate binding protein 7 |
Synonyms |
9830147J24Rik |
MMRRC Submission |
044241-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6082 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
142236103-142255910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 142251697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 515
(V515M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045097]
[ENSMUST00000171263]
|
AlphaFold |
Q91Z40 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045097
AA Change: V515M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000049104 Gene: ENSMUSG00000040253 AA Change: V515M
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
18 |
281 |
6.6e-128 |
PFAM |
Pfam:GBP_C
|
283 |
579 |
2.8e-127 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171263
AA Change: V515M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000132970 Gene: ENSMUSG00000040253 AA Change: V515M
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
18 |
281 |
1e-126 |
PFAM |
Pfam:GBP_C
|
283 |
579 |
2.8e-127 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197826
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
C |
1: 11,868,752 (GRCm39) |
I344T |
probably benign |
Het |
Adamts19 |
G |
A |
18: 59,101,846 (GRCm39) |
A639T |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,866,930 (GRCm39) |
D122G |
probably damaging |
Het |
Bin2 |
A |
G |
15: 100,543,029 (GRCm39) |
S358P |
possibly damaging |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Btaf1 |
C |
T |
19: 36,960,942 (GRCm39) |
R772C |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,390,301 (GRCm39) |
E1177G |
probably benign |
Het |
Clec4b2 |
A |
T |
6: 123,181,100 (GRCm39) |
|
probably null |
Het |
Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,970,193 (GRCm39) |
S87P |
probably damaging |
Het |
Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
Eif3a |
T |
C |
19: 60,760,568 (GRCm39) |
K682R |
possibly damaging |
Het |
Eif4e2 |
G |
T |
1: 87,153,956 (GRCm39) |
|
probably null |
Het |
Ephb1 |
T |
C |
9: 101,848,303 (GRCm39) |
D665G |
probably damaging |
Het |
Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
Hook3 |
C |
A |
8: 26,600,813 (GRCm39) |
A32S |
probably benign |
Het |
Hoxb4 |
T |
C |
11: 96,209,359 (GRCm39) |
|
probably benign |
Het |
Idi1 |
T |
A |
13: 8,940,506 (GRCm39) |
Y229* |
probably null |
Het |
Lpl |
A |
T |
8: 69,349,301 (GRCm39) |
I276F |
probably damaging |
Het |
Ltbp4 |
T |
C |
7: 27,035,105 (GRCm39) |
|
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,905,998 (GRCm39) |
I64V |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,314,423 (GRCm39) |
D700G |
probably benign |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Myt1l |
T |
C |
12: 29,892,518 (GRCm39) |
Y52H |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,267,402 (GRCm39) |
D777E |
probably benign |
Het |
Nudt4 |
A |
G |
10: 95,387,318 (GRCm39) |
I82T |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,962,374 (GRCm39) |
C653R |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,890,393 (GRCm39) |
Y7380H |
unknown |
Het |
Or13a18 |
A |
G |
7: 140,190,594 (GRCm39) |
T172A |
probably benign |
Het |
Or8b3b |
C |
A |
9: 38,583,866 (GRCm39) |
R291S |
probably damaging |
Het |
Or8j3 |
A |
C |
2: 86,028,661 (GRCm39) |
V145G |
probably damaging |
Het |
Or8s8 |
C |
T |
15: 98,354,647 (GRCm39) |
A152V |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,148,714 (GRCm39) |
M409K |
probably damaging |
Het |
Ptpn11 |
T |
C |
5: 121,292,589 (GRCm39) |
T253A |
probably benign |
Het |
Rabl6 |
C |
T |
2: 25,473,837 (GRCm39) |
|
probably benign |
Het |
Rnf14 |
T |
C |
18: 38,434,723 (GRCm39) |
S57P |
possibly damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Slco1b2 |
A |
C |
6: 141,609,396 (GRCm39) |
I269L |
probably benign |
Het |
Smchd1 |
A |
G |
17: 71,656,714 (GRCm39) |
Y1918H |
probably benign |
Het |
Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,972,511 (GRCm39) |
M615V |
probably benign |
Het |
Tnnt2 |
A |
G |
1: 135,777,172 (GRCm39) |
M199V |
probably benign |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Vmn2r73 |
T |
A |
7: 85,507,429 (GRCm39) |
I628L |
probably benign |
Het |
Zc2hc1b |
C |
A |
10: 13,047,055 (GRCm39) |
E19* |
probably null |
Het |
|
Other mutations in Gbp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00731:Gbp7
|
APN |
3 |
142,252,189 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01020:Gbp7
|
APN |
3 |
142,248,618 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01959:Gbp7
|
APN |
3 |
142,247,108 (GRCm39) |
splice site |
probably benign |
|
IGL02002:Gbp7
|
APN |
3 |
142,244,661 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02008:Gbp7
|
APN |
3 |
142,252,211 (GRCm39) |
missense |
probably benign |
0.11 |
PIT4366001:Gbp7
|
UTSW |
3 |
142,248,712 (GRCm39) |
missense |
probably benign |
|
R0103:Gbp7
|
UTSW |
3 |
142,252,299 (GRCm39) |
missense |
probably benign |
|
R0103:Gbp7
|
UTSW |
3 |
142,252,299 (GRCm39) |
missense |
probably benign |
|
R0398:Gbp7
|
UTSW |
3 |
142,251,274 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0486:Gbp7
|
UTSW |
3 |
142,252,078 (GRCm39) |
splice site |
probably benign |
|
R0645:Gbp7
|
UTSW |
3 |
142,243,926 (GRCm39) |
splice site |
probably null |
|
R0961:Gbp7
|
UTSW |
3 |
142,247,318 (GRCm39) |
nonsense |
probably null |
|
R1834:Gbp7
|
UTSW |
3 |
142,240,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R2089:Gbp7
|
UTSW |
3 |
142,251,316 (GRCm39) |
splice site |
probably benign |
|
R2089:Gbp7
|
UTSW |
3 |
142,240,383 (GRCm39) |
missense |
probably damaging |
0.97 |
R2091:Gbp7
|
UTSW |
3 |
142,251,316 (GRCm39) |
splice site |
probably benign |
|
R2091:Gbp7
|
UTSW |
3 |
142,240,383 (GRCm39) |
missense |
probably damaging |
0.97 |
R2091:Gbp7
|
UTSW |
3 |
142,240,383 (GRCm39) |
missense |
probably damaging |
0.97 |
R2181:Gbp7
|
UTSW |
3 |
142,249,791 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2921:Gbp7
|
UTSW |
3 |
142,240,333 (GRCm39) |
missense |
probably benign |
0.00 |
R2922:Gbp7
|
UTSW |
3 |
142,240,333 (GRCm39) |
missense |
probably benign |
0.00 |
R3819:Gbp7
|
UTSW |
3 |
142,249,826 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4747:Gbp7
|
UTSW |
3 |
142,248,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Gbp7
|
UTSW |
3 |
142,243,848 (GRCm39) |
missense |
probably benign |
0.00 |
R5899:Gbp7
|
UTSW |
3 |
142,252,303 (GRCm39) |
missense |
probably benign |
|
R6211:Gbp7
|
UTSW |
3 |
142,251,754 (GRCm39) |
missense |
probably benign |
0.12 |
R6330:Gbp7
|
UTSW |
3 |
142,252,259 (GRCm39) |
missense |
probably benign |
|
R6419:Gbp7
|
UTSW |
3 |
142,252,214 (GRCm39) |
missense |
probably benign |
0.00 |
R7120:Gbp7
|
UTSW |
3 |
142,249,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R7338:Gbp7
|
UTSW |
3 |
142,243,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R7844:Gbp7
|
UTSW |
3 |
142,242,147 (GRCm39) |
missense |
probably benign |
0.10 |
R7910:Gbp7
|
UTSW |
3 |
142,240,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R8357:Gbp7
|
UTSW |
3 |
142,252,133 (GRCm39) |
missense |
probably benign |
0.06 |
R8457:Gbp7
|
UTSW |
3 |
142,252,133 (GRCm39) |
missense |
probably benign |
0.06 |
R9016:Gbp7
|
UTSW |
3 |
142,249,870 (GRCm39) |
missense |
probably benign |
0.35 |
R9030:Gbp7
|
UTSW |
3 |
142,243,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R9070:Gbp7
|
UTSW |
3 |
142,249,762 (GRCm39) |
missense |
probably benign |
0.10 |
R9357:Gbp7
|
UTSW |
3 |
142,248,889 (GRCm39) |
missense |
probably benign |
0.01 |
R9425:Gbp7
|
UTSW |
3 |
142,248,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R9634:Gbp7
|
UTSW |
3 |
142,242,115 (GRCm39) |
missense |
probably benign |
0.43 |
R9684:Gbp7
|
UTSW |
3 |
142,240,327 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCATGGTTCAAAGTCATCTG -3'
(R):5'- AGATGACTCAAAACAGCCTGG -3'
Sequencing Primer
(F):5'- AAAGTCATCTGGGTCTCTGAACC -3'
(R):5'- TGGAGTCCCTCTATACCACTCAGAAG -3'
|
Posted On |
2017-07-14 |