Incidental Mutation 'R9598:Gbp4'
| ID |
723382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp4
|
| Ensembl Gene |
ENSMUSG00000079363 |
| Gene Name |
guanylate binding protein 4 |
| Synonyms |
Mpa2, Mpa-2, Mag-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9598 (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 G
at 105284740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 50
(S50P)
|
| 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 damaging
Transcript: ENSMUST00000100962
AA Change: S50P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: S50P
| 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 damaging
Transcript: ENSMUST00000196204
AA Change: S50P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142528
Gene: ENSMUSG00000079363
AA Change: S50P
| 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: S50P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142493
Gene: ENSMUSG00000079363
AA Change: S50P
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,088,604 (GRCm39) |
I302V |
probably benign |
Het |
| Ackr2 |
A |
C |
9: 121,737,657 (GRCm39) |
T11P |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,149 (GRCm39) |
N811S |
probably benign |
Het |
| Atm |
T |
C |
9: 53,431,381 (GRCm39) |
I326V |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,784,764 (GRCm39) |
C146S |
possibly damaging |
Het |
| Cdh23 |
A |
T |
10: 60,214,574 (GRCm39) |
F1480L |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,322,578 (GRCm39) |
E78G |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,983,494 (GRCm39) |
N504K |
probably benign |
Het |
| Chrna4 |
G |
A |
2: 180,679,264 (GRCm39) |
S61L |
probably damaging |
Het |
| Clcn3 |
G |
T |
8: 61,366,061 (GRCm39) |
T864K |
unknown |
Het |
| Cym |
A |
C |
3: 107,126,941 (GRCm39) |
D71E |
possibly damaging |
Het |
| Ddx19b |
T |
C |
8: 111,747,673 (GRCm39) |
D87G |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,292,621 (GRCm39) |
V3002A |
possibly damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,946,997 (GRCm39) |
G408S |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,625,939 (GRCm39) |
D66E |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,672,789 (GRCm39) |
D820G |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,153,014 (GRCm39) |
V92I |
possibly damaging |
Het |
| Dusp16 |
T |
A |
6: 134,695,185 (GRCm39) |
T549S |
probably benign |
Het |
| Ephx1 |
T |
A |
1: 180,827,381 (GRCm39) |
K91* |
probably null |
Het |
| Flii |
A |
G |
11: 60,617,991 (GRCm39) |
F9L |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,436,308 (GRCm39) |
S760P |
unknown |
Het |
| Fmnl3 |
A |
T |
15: 99,223,210 (GRCm39) |
V378E |
probably damaging |
Het |
| Glra3 |
G |
T |
8: 56,393,718 (GRCm39) |
|
probably benign |
Het |
| Gm10188 |
T |
C |
1: 132,157,033 (GRCm39) |
D111G |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,247,876 (GRCm39) |
E101V |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,332,197 (GRCm39) |
M525I |
probably benign |
Het |
| Hid1 |
T |
A |
11: 115,239,738 (GRCm39) |
T731S |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,751,522 (GRCm39) |
Y847C |
probably damaging |
Het |
| Igfbpl1 |
C |
A |
4: 45,815,472 (GRCm39) |
L221F |
probably null |
Het |
| Ighv1-12 |
A |
G |
12: 114,579,757 (GRCm39) |
Y22H |
probably benign |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,866,767 (GRCm39) |
H335Q |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 24,016,707 (GRCm39) |
D287G |
probably benign |
Het |
| Mfsd14b |
G |
A |
13: 65,214,522 (GRCm39) |
R477W |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,607,148 (GRCm39) |
S131T |
possibly damaging |
Het |
| Nat8f2 |
A |
T |
6: 85,844,848 (GRCm39) |
D171E |
probably benign |
Het |
| Ndufb5 |
G |
T |
3: 32,795,881 (GRCm39) |
L24F |
probably benign |
Het |
| Nkain2 |
T |
C |
10: 32,278,291 (GRCm39) |
I45V |
probably damaging |
Het |
| Nlrp9b |
T |
G |
7: 19,753,302 (GRCm39) |
M69R |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,159,633 (GRCm39) |
R290* |
probably null |
Het |
| Or5d39 |
A |
C |
2: 87,979,935 (GRCm39) |
C143G |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,821 (GRCm39) |
K304I |
possibly damaging |
Het |
| Oxct2b |
T |
A |
4: 123,010,413 (GRCm39) |
V111E |
possibly damaging |
Het |
| Parva |
T |
A |
7: 112,187,753 (GRCm39) |
V350D |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,434 (GRCm39) |
D190G |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 133,012,725 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
T |
A |
6: 139,985,484 (GRCm39) |
Q19L |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,571,069 (GRCm39) |
N551D |
probably benign |
Het |
| Rb1cc1 |
G |
A |
1: 6,310,189 (GRCm39) |
V196I |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,464,270 (GRCm39) |
V54A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,044,102 (GRCm39) |
E537K |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Shtn1 |
T |
A |
19: 59,026,735 (GRCm39) |
I119F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,266,358 (GRCm39) |
|
probably null |
Het |
| Tasp1 |
T |
C |
2: 139,819,567 (GRCm39) |
D212G |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,994,608 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,489,718 (GRCm39) |
K403R |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,816,019 (GRCm39) |
V788A |
probably benign |
Het |
| Wdr25 |
C |
A |
12: 108,864,613 (GRCm39) |
H253N |
probably benign |
Het |
| Wwc2 |
G |
A |
8: 48,328,360 (GRCm39) |
S367L |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,162,292 (GRCm39) |
E814G |
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 |
|
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 |
|
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 |
|
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'- ATCTTGAGCATTCCTAGGGGAG -3'
(R):5'- CATCTATGTTGGCAGGTTGC -3'
Sequencing Primer
(F):5'- AGCATTCCTAGGGGAGATTTTC -3'
(R):5'- GCAGGTTGCTATGACCCAAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation