Incidental Mutation 'R8414:Gbp4'
| ID |
652824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp4
|
| Ensembl Gene |
ENSMUSG00000079363 |
| Gene Name |
guanylate binding protein 4 |
| Synonyms |
Mpa2, Mpa-2, Mag-2 |
| MMRRC Submission |
067768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105263633-105287452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105284703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 62
(V62E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000100961]
[ENSMUST00000100962]
[ENSMUST00000196204]
[ENSMUST00000196677]
[ENSMUST00000197799]
[ENSMUST00000199629]
|
| AlphaFold |
A4UUI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031235
|
| SMART Domains |
Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
213 |
5.4e-91 |
PFAM |
|
Pfam:GBP_C
|
206 |
493 |
1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100961
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
3.8e-124 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
4.5e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100962
AA Change: V62E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: V62E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
287 |
4.2e-91 |
PFAM |
|
Pfam:GBP_C
|
289 |
583 |
4.4e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196204
|
| SMART Domains |
Protein: ENSMUSP00000142528
Gene: ENSMUSG00000079363
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
76 |
1e-19 |
PFAM |
|
low complexity region
|
82 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196677
|
| SMART Domains |
Protein: ENSMUSP00000142795
Gene: ENSMUSG00000079363
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
1 |
149 |
3e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197799
AA Change: V62E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000142493
Gene: ENSMUSG00000079363
AA Change: V62E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
184 |
3.3e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199629
|
| SMART Domains |
Protein: ENSMUSP00000143689
Gene: ENSMUSG00000079363
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
1 |
127 |
1.5e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
T |
C |
2: 122,480,237 (GRCm39) |
Y33H |
probably damaging |
Het |
| Abcc10 |
T |
C |
17: 46,623,273 (GRCm39) |
R880G |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,646,221 (GRCm39) |
Y246N |
probably benign |
Het |
| Abhd18 |
A |
G |
3: 40,888,061 (GRCm39) |
M302V |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,032,235 (GRCm39) |
D568G |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,542 (GRCm39) |
R284G |
possibly damaging |
Het |
| AU021092 |
T |
C |
16: 5,034,649 (GRCm39) |
Y191C |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,200,985 (GRCm39) |
T751S |
probably benign |
Het |
| Brme1 |
A |
T |
8: 84,893,952 (GRCm39) |
E373V |
probably damaging |
Het |
| Ccdc136 |
A |
G |
6: 29,412,929 (GRCm39) |
E438G |
probably damaging |
Het |
| Cul2 |
C |
A |
18: 3,399,912 (GRCm39) |
N15K |
probably benign |
Het |
| Eml2 |
C |
A |
7: 18,913,220 (GRCm39) |
Q73K |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 59,826,030 (GRCm39) |
R588S |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fbxw28 |
C |
T |
9: 109,155,604 (GRCm39) |
W389* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,842,158 (GRCm39) |
C698S |
probably damaging |
Het |
| Gtf2h1 |
C |
A |
7: 46,464,768 (GRCm39) |
T401K |
possibly damaging |
Het |
| Hif1a |
G |
T |
12: 73,984,428 (GRCm39) |
M294I |
probably benign |
Het |
| Irak2 |
A |
G |
6: 113,663,903 (GRCm39) |
N484S |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,916,441 (GRCm39) |
T368A |
probably benign |
Het |
| Kcnq1 |
G |
A |
7: 142,917,403 (GRCm39) |
G588D |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Nckap5 |
T |
G |
1: 125,942,357 (GRCm39) |
E1582D |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,362,735 (GRCm39) |
I183T |
possibly damaging |
Het |
| Or10g9 |
T |
A |
9: 39,912,241 (GRCm39) |
H94L |
probably benign |
Het |
| Or4c117 |
A |
G |
2: 88,956,058 (GRCm39) |
F6L |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,619 (GRCm39) |
S750L |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,079 (GRCm39) |
Y447C |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,938,068 (GRCm39) |
Y75H |
probably benign |
Het |
| Proser1 |
G |
C |
3: 53,385,977 (GRCm39) |
G620R |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,369,439 (GRCm39) |
L164H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,381 (GRCm39) |
V195E |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,794 (GRCm39) |
V417D |
probably damaging |
Het |
| She |
A |
G |
3: 89,739,174 (GRCm39) |
T122A |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,941,273 (GRCm39) |
S56P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,126,133 (GRCm39) |
E442G |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,984,357 (GRCm39) |
R124S |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,383,511 (GRCm39) |
T1384A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,746,544 (GRCm39) |
V1087A |
probably damaging |
Het |
| Ticam1 |
T |
A |
17: 56,578,340 (GRCm39) |
I252L |
probably benign |
Het |
| Trbv31 |
C |
A |
6: 41,534,697 (GRCm39) |
D89Y |
possibly damaging |
Het |
| Trpc7 |
G |
A |
13: 56,970,282 (GRCm39) |
T434I |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,024,634 (GRCm39) |
I603N |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,310,669 (GRCm39) |
N317S |
possibly damaging |
Het |
| Vdac1 |
C |
T |
11: 52,267,330 (GRCm39) |
T77I |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,177,753 (GRCm39) |
R846* |
probably null |
Het |
| Zc3h12d |
GCCC |
GCC |
10: 7,715,735 (GRCm39) |
|
probably null |
Het |
| Zranb2 |
G |
T |
3: 157,252,312 (GRCm39) |
R310S |
unknown |
Het |
|
| Other mutations in Gbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Gbp4
|
APN |
5 |
105,284,887 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
IGL01834:Gbp4
|
APN |
5 |
105,273,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02100:Gbp4
|
APN |
5 |
105,269,941 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02119:Gbp4
|
APN |
5 |
105,268,908 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02364:Gbp4
|
APN |
5 |
105,284,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03026:Gbp4
|
APN |
5 |
105,267,866 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
PIT4651001:Gbp4
|
UTSW |
5 |
105,266,289 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0147:Gbp4
|
UTSW |
5 |
105,267,362 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0148:Gbp4
|
UTSW |
5 |
105,267,362 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0413:Gbp4
|
UTSW |
5 |
105,268,972 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0415:Gbp4
|
UTSW |
5 |
105,268,972 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0478:Gbp4
|
UTSW |
5 |
105,267,299 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0546:Gbp4
|
UTSW |
5 |
105,268,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Gbp4
|
UTSW |
5 |
105,269,706 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1528:Gbp4
|
UTSW |
5 |
105,269,658 (GRCm39) |
splice site |
probably null |
|
|
R1541:Gbp4
|
UTSW |
5 |
105,266,275 (GRCm39) |
missense |
probably benign |
|
|
R2099:Gbp4
|
UTSW |
5 |
105,268,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Gbp4
|
UTSW |
5 |
105,283,042 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2994:Gbp4
|
UTSW |
5 |
105,284,886 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
|
R4021:Gbp4
|
UTSW |
5 |
105,268,789 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4258:Gbp4
|
UTSW |
5 |
105,284,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4489:Gbp4
|
UTSW |
5 |
105,269,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5164:Gbp4
|
UTSW |
5 |
105,284,743 (GRCm39) |
nonsense |
probably null |
|
|
R5195:Gbp4
|
UTSW |
5 |
105,267,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5406:Gbp4
|
UTSW |
5 |
105,267,387 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5550:Gbp4
|
UTSW |
5 |
105,269,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5701:Gbp4
|
UTSW |
5 |
105,266,265 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5814:Gbp4
|
UTSW |
5 |
105,267,785 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6128:Gbp4
|
UTSW |
5 |
105,283,030 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6307:Gbp4
|
UTSW |
5 |
105,270,975 (GRCm39) |
nonsense |
probably null |
|
|
R6513:Gbp4
|
UTSW |
5 |
105,270,986 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6870:Gbp4
|
UTSW |
5 |
105,273,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6938:Gbp4
|
UTSW |
5 |
105,282,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7063:Gbp4
|
UTSW |
5 |
105,266,314 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7124:Gbp4
|
UTSW |
5 |
105,267,825 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7457:Gbp4
|
UTSW |
5 |
105,267,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7615:Gbp4
|
UTSW |
5 |
105,270,848 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7877:Gbp4
|
UTSW |
5 |
105,266,161 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7905:Gbp4
|
UTSW |
5 |
105,268,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8274:Gbp4
|
UTSW |
5 |
105,267,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8377:Gbp4
|
UTSW |
5 |
105,266,328 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8423:Gbp4
|
UTSW |
5 |
105,267,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Gbp4
|
UTSW |
5 |
105,267,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9485:Gbp4
|
UTSW |
5 |
105,269,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9579:Gbp4
|
UTSW |
5 |
105,270,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Gbp4
|
UTSW |
5 |
105,284,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
S24628:Gbp4
|
UTSW |
5 |
105,268,972 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0067:Gbp4
|
UTSW |
5 |
105,273,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Gbp4
|
UTSW |
5 |
105,268,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gbp4
|
UTSW |
5 |
105,273,001 (GRCm39) |
missense |
probably null |
0.89 |
|
Z1177:Gbp4
|
UTSW |
5 |
105,267,315 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGAGCATTCCTAGGGGAG -3'
(R):5'- GCAGGTTGCTATGACCCAAC -3'
Sequencing Primer
(F):5'- AGCATTCCTAGGGGAGATTTTC -3'
(R):5'- GTTGCTATGACCCAACCACAAATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation