Incidental Mutation 'R6330:Gbp7'
ID |
510847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp7
|
Ensembl Gene |
ENSMUSG00000040253 |
Gene Name |
guanylate binding protein 7 |
Synonyms |
9830147J24Rik |
MMRRC Submission |
044484-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6330 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142236103-142255910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142252259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 614
(Y614F)
|
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: Y614F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049104 Gene: ENSMUSG00000040253 AA Change: Y614F
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: Y614F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132970 Gene: ENSMUSG00000040253 AA Change: Y614F
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
F7 |
C |
T |
8: 13,085,140 (GRCm39) |
H389Y |
probably damaging |
Het |
Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
Mindy3 |
C |
T |
2: 12,361,744 (GRCm39) |
A333T |
probably damaging |
Het |
Mlxip |
G |
A |
5: 123,533,015 (GRCm39) |
C8Y |
probably benign |
Het |
Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
Or14j7 |
T |
C |
17: 38,234,685 (GRCm39) |
V76A |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
Orc2 |
C |
A |
1: 58,539,493 (GRCm39) |
V49L |
probably benign |
Het |
Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
Slc2a12 |
A |
G |
10: 22,540,894 (GRCm39) |
T250A |
probably benign |
Het |
Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
Tbcd |
T |
C |
11: 121,387,912 (GRCm39) |
S348P |
probably benign |
Het |
Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,637,412 (GRCm39) |
Y33N |
probably damaging |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
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 |
|
R6082:Gbp7
|
UTSW |
3 |
142,251,697 (GRCm39) |
missense |
probably benign |
0.01 |
R6211:Gbp7
|
UTSW |
3 |
142,251,754 (GRCm39) |
missense |
probably benign |
0.12 |
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'- ACCGTCAATAGGCATGGTTTTC -3'
(R):5'- GGGGTCTTGCCATTAATTTATAGAG -3'
Sequencing Primer
(F):5'- ACAGATTCAAAAAGACATGCTTAATG -3'
(R):5'- TTGCCATTAATTTATAGAGAGTGACC -3'
|
Posted On |
2018-04-02 |