Incidental Mutation 'R6870:Gbp4'
ID |
536135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp4
|
Ensembl Gene |
ENSMUSG00000079363 |
Gene Name |
guanylate binding protein 4 |
Synonyms |
Mpa2, Mpa-2, Mag-2 |
MMRRC Submission |
044967-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6870 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105263633-105287452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105273444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 129
(S129G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142493
(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 damaging
Transcript: ENSMUST00000100962
AA Change: S129G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098522 Gene: ENSMUSG00000079363 AA Change: S129G
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 damaging
Transcript: ENSMUST00000197799
AA Change: S129G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142493 Gene: ENSMUSG00000079363 AA Change: S129G
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: 99.2%
- 20x: 97.4%
|
Validation Efficiency |
72% (39/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,020,608 (GRCm39) |
Y62C |
probably benign |
Het |
A1bg |
T |
C |
15: 60,791,564 (GRCm39) |
T291A |
probably damaging |
Het |
Abcb11 |
A |
G |
2: 69,115,642 (GRCm39) |
I574T |
possibly damaging |
Het |
Abcb5 |
T |
A |
12: 118,929,000 (GRCm39) |
Y17F |
possibly damaging |
Het |
Arfgef3 |
A |
T |
10: 18,522,478 (GRCm39) |
L516* |
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,885,321 (GRCm39) |
S619P |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,347,261 (GRCm39) |
V65A |
probably benign |
Het |
Calm3 |
T |
A |
7: 16,653,568 (GRCm39) |
Q9L |
probably benign |
Het |
Cd300c2 |
C |
T |
11: 114,891,503 (GRCm39) |
D124N |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,706,390 (GRCm39) |
T958A |
probably benign |
Het |
Cemip2 |
T |
C |
19: 21,809,487 (GRCm39) |
S956P |
possibly damaging |
Het |
Cfap69 |
T |
C |
5: 5,671,958 (GRCm39) |
T317A |
probably benign |
Het |
Cluh |
T |
A |
11: 74,556,210 (GRCm39) |
I887K |
probably damaging |
Het |
Dag1 |
A |
T |
9: 108,086,457 (GRCm39) |
V228E |
probably damaging |
Het |
Dhtkd1 |
T |
C |
2: 5,924,248 (GRCm39) |
|
probably null |
Het |
Dnah1 |
T |
A |
14: 30,993,018 (GRCm39) |
K2959* |
probably null |
Het |
Dnttip2 |
T |
A |
3: 122,069,457 (GRCm39) |
V224E |
probably damaging |
Het |
Drosha |
C |
T |
15: 12,907,479 (GRCm39) |
P1071L |
probably benign |
Het |
E030025P04Rik |
T |
A |
11: 109,030,993 (GRCm39) |
H84L |
unknown |
Het |
Elac2 |
A |
T |
11: 64,890,589 (GRCm39) |
S698C |
probably null |
Het |
Elf2 |
A |
T |
3: 51,201,586 (GRCm39) |
*88R |
probably null |
Het |
Fastkd1 |
T |
A |
2: 69,538,958 (GRCm39) |
I143L |
probably benign |
Het |
Fbxw10 |
C |
T |
11: 62,746,193 (GRCm39) |
R366C |
probably damaging |
Het |
Frg2f1 |
T |
C |
4: 119,388,329 (GRCm39) |
M57V |
probably benign |
Het |
Gnat2 |
A |
C |
3: 108,002,947 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
C |
A |
16: 36,738,565 (GRCm39) |
F2301L |
probably damaging |
Het |
Il18bp |
T |
C |
7: 101,666,518 (GRCm39) |
T2A |
possibly damaging |
Het |
Kpna2 |
T |
C |
11: 106,883,520 (GRCm39) |
|
probably null |
Het |
Lrrfip2 |
A |
T |
9: 111,045,187 (GRCm39) |
|
probably benign |
Het |
Map4k1 |
T |
G |
7: 28,701,096 (GRCm39) |
|
probably null |
Het |
Mcm3ap |
T |
C |
10: 76,306,049 (GRCm39) |
V54A |
probably benign |
Het |
Nup133 |
A |
G |
8: 124,626,246 (GRCm39) |
I1112T |
probably benign |
Het |
Or8b1 |
A |
C |
9: 38,399,382 (GRCm39) |
D19A |
probably benign |
Het |
Pcdhac1 |
T |
A |
18: 37,225,140 (GRCm39) |
V651D |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,186,356 (GRCm39) |
T571A |
possibly damaging |
Het |
Phc3 |
A |
G |
3: 30,990,910 (GRCm39) |
S403P |
probably damaging |
Het |
Prl7b1 |
T |
C |
13: 27,788,516 (GRCm39) |
E113G |
probably damaging |
Het |
Psmd2 |
T |
G |
16: 20,480,593 (GRCm39) |
M744R |
probably benign |
Het |
Qrich2 |
T |
C |
11: 116,346,156 (GRCm39) |
D1556G |
probably damaging |
Het |
Septin1 |
C |
T |
7: 126,816,876 (GRCm39) |
V46M |
probably benign |
Het |
Shank2 |
C |
A |
7: 143,606,197 (GRCm39) |
Q127K |
probably damaging |
Het |
Siah1a |
A |
G |
8: 87,451,653 (GRCm39) |
V277A |
possibly damaging |
Het |
Slc4a7 |
T |
A |
14: 14,733,846 (GRCm38) |
D85E |
probably damaging |
Het |
Slc5a12 |
A |
T |
2: 110,472,155 (GRCm39) |
I526F |
probably damaging |
Het |
Svil |
T |
C |
18: 5,063,231 (GRCm39) |
V834A |
possibly damaging |
Het |
Sycp1 |
T |
A |
3: 102,842,919 (GRCm39) |
S17C |
probably damaging |
Het |
Tssk6 |
G |
A |
8: 70,355,673 (GRCm39) |
R239Q |
probably benign |
Het |
Txnrd1 |
A |
G |
10: 82,709,042 (GRCm39) |
D80G |
probably benign |
Het |
Tyk2 |
A |
G |
9: 21,036,250 (GRCm39) |
F79S |
probably damaging |
Het |
Tyrp1 |
T |
C |
4: 80,769,014 (GRCm39) |
S503P |
probably benign |
Het |
Upf1 |
A |
T |
8: 70,794,211 (GRCm39) |
C232S |
probably benign |
Het |
Zeb2 |
G |
A |
2: 44,878,922 (GRCm39) |
T1080I |
probably damaging |
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 |
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 |
R8414:Gbp4
|
UTSW |
5 |
105,284,703 (GRCm39) |
missense |
probably benign |
0.05 |
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'- TCATGCACACGCTCTCATGAC -3'
(R):5'- TTAACCAGGTAAAGGGCACG -3'
Sequencing Primer
(F):5'- AATCATCCTAAACACTCTGCTCTG -3'
(R):5'- ACGTGCTCCTCATGCTCAGG -3'
|
Posted On |
2018-10-18 |