Incidental Mutation 'R0961:Gbp7'
| ID |
81868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp7
|
| Ensembl Gene |
ENSMUSG00000040253 |
| Gene Name |
guanylate binding protein 7 |
| Synonyms |
9830147J24Rik |
| MMRRC Submission |
039090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R0961 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142236103-142255910 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 142247318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 276
(S276*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045097]
[ENSMUST00000171263]
|
| AlphaFold |
Q91Z40 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045097
AA Change: S276*
|
| SMART Domains |
Protein: ENSMUSP00000049104
Gene: ENSMUSG00000040253
AA Change: S276*
| 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 null
Transcript: ENSMUST00000171263
AA Change: S276*
|
| SMART Domains |
Protein: ENSMUSP00000132970
Gene: ENSMUSG00000040253
AA Change: S276*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
281 |
1e-126 |
PFAM |
|
Pfam:GBP_C
|
283 |
579 |
2.8e-127 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.6%
- 20x: 89.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
C |
2: 151,314,686 (GRCm39) |
S331A |
probably benign |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4933412E24Rik |
T |
C |
15: 59,887,160 (GRCm39) |
I427V |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,960,208 (GRCm39) |
K664* |
probably null |
Het |
| Adcy8 |
A |
G |
15: 64,626,711 (GRCm39) |
V709A |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,349,230 (GRCm39) |
D665E |
probably benign |
Het |
| Arhgap22 |
C |
T |
14: 33,089,070 (GRCm39) |
T352M |
probably damaging |
Het |
| Atg9a |
G |
A |
1: 75,163,390 (GRCm39) |
L237F |
probably damaging |
Het |
| Ccdc178 |
T |
G |
18: 22,152,098 (GRCm39) |
K672T |
possibly damaging |
Het |
| Ccdc63 |
T |
G |
5: 122,249,009 (GRCm39) |
K440T |
possibly damaging |
Het |
| Cd55b |
A |
T |
1: 130,341,813 (GRCm39) |
W275R |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,686,297 (GRCm39) |
|
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,195 (GRCm39) |
D204E |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,812,964 (GRCm39) |
V148A |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,694,531 (GRCm39) |
V610E |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,577 (GRCm39) |
I842N |
probably damaging |
Het |
| Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
| Fzd6 |
C |
T |
15: 38,889,073 (GRCm39) |
L64F |
probably damaging |
Het |
| Galntl6 |
A |
T |
8: 59,364,374 (GRCm39) |
H45Q |
probably benign |
Het |
| Gnb5 |
A |
T |
9: 75,242,933 (GRCm39) |
I168F |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,805,403 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
C |
T |
8: 23,670,927 (GRCm39) |
C95Y |
probably damaging |
Het |
| Gstm7 |
T |
A |
3: 107,834,302 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,755,745 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kank4 |
G |
A |
4: 98,644,756 (GRCm39) |
R999W |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,379,219 (GRCm39) |
V92A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,639,974 (GRCm39) |
D89G |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,378 (GRCm39) |
T103A |
probably benign |
Het |
| Lamc1 |
CGCTGGC |
CGC |
1: 153,097,392 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
G |
T |
1: 153,097,446 (GRCm39) |
L1533I |
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,962,560 (GRCm39) |
H455R |
possibly damaging |
Het |
| Lmo7 |
C |
A |
14: 102,031,705 (GRCm39) |
T33K |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,640,895 (GRCm39) |
|
probably benign |
Het |
| Mep1b |
T |
A |
18: 21,221,786 (GRCm39) |
Y245* |
probably null |
Het |
| Mettl24 |
A |
G |
10: 40,686,615 (GRCm39) |
T331A |
possibly damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,422,271 (GRCm39) |
D2467E |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,773,280 (GRCm39) |
S1871P |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,165,193 (GRCm39) |
L502P |
possibly damaging |
Het |
| Npr1 |
T |
C |
3: 90,366,028 (GRCm39) |
N588D |
possibly damaging |
Het |
| Or2g7 |
T |
A |
17: 38,378,814 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or8k16 |
A |
T |
2: 85,519,790 (GRCm39) |
T6S |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,105,731 (GRCm39) |
S112P |
probably benign |
Het |
| R3hdm1 |
C |
T |
1: 128,121,333 (GRCm39) |
T279I |
probably benign |
Het |
| Rere |
A |
G |
4: 150,699,829 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,709,122 (GRCm39) |
E4779V |
unknown |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,399,484 (GRCm39) |
H392R |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,585,618 (GRCm39) |
T477A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,618 (GRCm39) |
V922A |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,870,075 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,523,920 (GRCm39) |
D705G |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,734,188 (GRCm39) |
S288T |
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,800,509 (GRCm39) |
|
probably null |
Het |
| Usp18 |
G |
A |
6: 121,238,452 (GRCm39) |
A200T |
probably benign |
Het |
| Zfp759 |
A |
T |
13: 67,287,927 (GRCm39) |
T493S |
probably benign |
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 |
|
|
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 |
|
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'- CTTAGCCTGAAGACTGTCCTTTCCAAC -3'
(R):5'- TCTAGCCAGACAAAGAAACATGAGTGC -3'
Sequencing Primer
(F):5'- TTTGCAGGCATGAGTATCAAAGC -3'
(R):5'- ATTACTTCAAACACAGGTATTCCCTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation