Incidental Mutation 'IGL03026:Gbp4'
| ID |
408153 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbp4
|
| Ensembl Gene |
ENSMUSG00000079363 |
| Gene Name |
guanylate binding protein 4 |
| Synonyms |
Mpa2, Mpa-2, Mag-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03026
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105263633-105287452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105267866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 460
(A460E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000100961]
[ENSMUST00000100962]
[ENSMUST00000196204]
[ENSMUST00000196677]
[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 |
possibly damaging
Transcript: ENSMUST00000100962
AA Change: A460E
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: A460E
| 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: ENSMUST00000199629
|
| SMART Domains |
Protein: ENSMUSP00000143689
Gene: ENSMUSG00000079363
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
1 |
127 |
1.5e-43 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
G |
11: 100,410,516 (GRCm39) |
V154A |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,015,467 (GRCm39) |
Y481C |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,412 (GRCm39) |
V315A |
probably benign |
Het |
| Atf7ip |
G |
A |
6: 136,582,380 (GRCm39) |
S1130N |
possibly damaging |
Het |
| Ctss |
A |
G |
3: 95,446,141 (GRCm39) |
D87G |
probably benign |
Het |
| Cwf19l2 |
A |
T |
9: 3,428,777 (GRCm39) |
K254N |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,179,647 (GRCm39) |
D727G |
probably damaging |
Het |
| Dsg3 |
G |
A |
18: 20,670,029 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
T |
C |
2: 24,742,746 (GRCm39) |
M478V |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,158 (GRCm39) |
N889I |
probably benign |
Het |
| Exo1 |
G |
T |
1: 175,736,003 (GRCm39) |
*148L |
probably null |
Het |
| Fam133b |
G |
T |
5: 3,609,646 (GRCm39) |
|
probably benign |
Het |
| Foxj2 |
G |
A |
6: 122,815,139 (GRCm39) |
A392T |
probably benign |
Het |
| H1f5 |
G |
A |
13: 21,964,117 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
T |
8: 107,605,242 (GRCm39) |
I483F |
probably benign |
Het |
| Irak2 |
T |
A |
6: 113,653,612 (GRCm39) |
V260E |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,512,199 (GRCm39) |
|
probably null |
Het |
| Lama5 |
A |
G |
2: 179,837,760 (GRCm39) |
V936A |
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,166,769 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,659,612 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,414 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,027,742 (GRCm39) |
Y66C |
probably damaging |
Het |
| Oaz1 |
G |
A |
10: 80,664,634 (GRCm39) |
|
probably benign |
Het |
| Or2y1f |
A |
T |
11: 49,184,285 (GRCm39) |
I46F |
probably damaging |
Het |
| Or6c38 |
G |
A |
10: 128,929,057 (GRCm39) |
A262V |
possibly damaging |
Het |
| Or6c65 |
A |
T |
10: 129,603,910 (GRCm39) |
M182L |
probably benign |
Het |
| Pkd2 |
A |
T |
5: 104,642,753 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,792,349 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,302,695 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
T |
C |
9: 72,526,967 (GRCm39) |
S1386P |
probably damaging |
Het |
| Ric1 |
T |
G |
19: 29,577,233 (GRCm39) |
W1046G |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,861,436 (GRCm39) |
R957L |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,442 (GRCm39) |
I1482M |
probably damaging |
Het |
| Sema3b |
T |
C |
9: 107,479,262 (GRCm39) |
N236S |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,848,441 (GRCm39) |
|
probably null |
Het |
| Slfn5 |
T |
C |
11: 82,847,387 (GRCm39) |
Y91H |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,774,261 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,249,046 (GRCm39) |
L546P |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,300 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,438 (GRCm39) |
V4A |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,370,344 (GRCm39) |
L56P |
probably damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,684,000 (GRCm39) |
I155S |
possibly damaging |
Het |
| Vmn2r43 |
G |
T |
7: 8,258,096 (GRCm39) |
D372E |
probably benign |
Het |
| Vstm2b |
C |
A |
7: 40,551,945 (GRCm39) |
S99* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,060 (GRCm39) |
D735G |
probably damaging |
Het |
| Wee2 |
T |
A |
6: 40,438,915 (GRCm39) |
M346K |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,818,798 (GRCm39) |
K371R |
possibly damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,680 (GRCm39) |
H226L |
possibly 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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation