Incidental Mutation 'IGL01307:Gbp4'
ID |
73473 |
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 # |
IGL01307
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
105263633-105287452 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 105284887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142528
(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 null
Transcript: ENSMUST00000100962
AA Change: M1V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098522 Gene: ENSMUSG00000079363 AA Change: M1V
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 null
Transcript: ENSMUST00000196204
AA Change: M1V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000142528 Gene: ENSMUSG00000079363 AA Change: M1V
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 null
Transcript: ENSMUST00000197799
AA Change: M1V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142493 Gene: ENSMUSG00000079363 AA Change: M1V
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
184 |
3.3e-59 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198278
|
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 |
Abca13 |
T |
A |
11: 9,247,159 (GRCm39) |
M2302K |
possibly damaging |
Het |
Actl9 |
A |
G |
17: 33,653,152 (GRCm39) |
E404G |
probably damaging |
Het |
Adamts12 |
A |
T |
15: 11,237,632 (GRCm39) |
I314L |
possibly damaging |
Het |
Card6 |
C |
A |
15: 5,129,484 (GRCm39) |
M637I |
possibly damaging |
Het |
Ccdc122 |
G |
A |
14: 77,329,516 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
A |
G |
15: 18,899,886 (GRCm39) |
D71G |
probably benign |
Het |
Cdk15 |
A |
T |
1: 59,326,955 (GRCm39) |
Y214F |
probably benign |
Het |
Cdon |
A |
G |
9: 35,368,860 (GRCm39) |
K365E |
probably benign |
Het |
Cyp2c37 |
T |
C |
19: 39,981,023 (GRCm39) |
V47A |
probably benign |
Het |
Ddc |
T |
A |
11: 11,789,462 (GRCm39) |
D271V |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,042,708 (GRCm39) |
A3290V |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,302,811 (GRCm39) |
S20T |
possibly damaging |
Het |
Egf |
A |
C |
3: 129,533,642 (GRCm39) |
I66S |
probably damaging |
Het |
Eif4a3 |
T |
C |
11: 119,184,387 (GRCm39) |
K268E |
probably damaging |
Het |
Fbxl16 |
A |
T |
17: 26,038,338 (GRCm39) |
|
probably benign |
Het |
Fez2 |
C |
T |
17: 78,689,029 (GRCm39) |
|
probably benign |
Het |
Fras1 |
C |
A |
5: 96,929,551 (GRCm39) |
T3985K |
probably benign |
Het |
Gpnmb |
A |
G |
6: 49,022,299 (GRCm39) |
D143G |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,724,220 (GRCm39) |
T837S |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,620,752 (GRCm39) |
T1153A |
possibly damaging |
Het |
Hp |
C |
T |
8: 110,302,415 (GRCm39) |
V178I |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,276,922 (GRCm39) |
V4061E |
probably damaging |
Het |
Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
Mtf2 |
C |
T |
5: 108,254,756 (GRCm39) |
T519M |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
Ncapd2 |
A |
G |
6: 125,145,582 (GRCm39) |
V1355A |
possibly damaging |
Het |
Nhlrc2 |
C |
A |
19: 56,540,231 (GRCm39) |
Y73* |
probably null |
Het |
Nwd2 |
A |
T |
5: 63,965,626 (GRCm39) |
S1737C |
possibly damaging |
Het |
Or1p1 |
T |
A |
11: 74,180,254 (GRCm39) |
C261S |
possibly damaging |
Het |
Osmr |
A |
G |
15: 6,873,908 (GRCm39) |
V163A |
probably damaging |
Het |
Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
Pcnt |
A |
G |
10: 76,247,422 (GRCm39) |
Y1037H |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,393,425 (GRCm39) |
I1920T |
possibly damaging |
Het |
Plekha7 |
A |
G |
7: 115,744,479 (GRCm39) |
|
probably benign |
Het |
Psd |
C |
T |
19: 46,303,097 (GRCm39) |
G762R |
probably damaging |
Het |
Psmb8 |
A |
G |
17: 34,418,210 (GRCm39) |
T51A |
probably benign |
Het |
Rbm12 |
A |
C |
2: 155,937,302 (GRCm39) |
|
probably benign |
Het |
Rictor |
T |
A |
15: 6,804,085 (GRCm39) |
|
probably null |
Het |
Slc24a5 |
G |
A |
2: 124,922,800 (GRCm39) |
G158S |
probably damaging |
Het |
Spata31f1a |
G |
T |
4: 42,850,963 (GRCm39) |
L398I |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,833,841 (GRCm39) |
|
probably benign |
Het |
Tln2 |
A |
G |
9: 67,302,749 (GRCm39) |
M74T |
probably benign |
Het |
Trim24 |
C |
A |
6: 37,942,570 (GRCm39) |
D957E |
possibly damaging |
Het |
Trpa1 |
A |
T |
1: 14,966,771 (GRCm39) |
M531K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,736,637 (GRCm39) |
Y4376H |
possibly damaging |
Het |
Twsg1 |
T |
C |
17: 66,255,646 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,423,020 (GRCm39) |
D1006G |
probably benign |
Het |
|
Other mutations in Gbp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |