Incidental Mutation 'R7457:Gbp4'
| ID |
578192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp4
|
| Ensembl Gene |
ENSMUSG00000079363 |
| Gene Name |
guanylate binding protein 4 |
| Synonyms |
Mpa2, Mpa-2, Mag-2 |
| MMRRC Submission |
045531-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7457 (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 105267419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 500
(E500G)
|
| 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 |
probably damaging
Transcript: ENSMUST00000100962
AA Change: E500G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: E500G
| 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 |
|
| Meta Mutation Damage Score |
0.1029 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,374,635 (GRCm39) |
H452Q |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,792,529 (GRCm39) |
N142K |
possibly damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,343,056 (GRCm39) |
S57R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,420,192 (GRCm39) |
T780A |
probably benign |
Het |
| Atp9b |
A |
T |
18: 80,960,833 (GRCm39) |
|
probably null |
Het |
| Cdyl2 |
A |
T |
8: 117,305,935 (GRCm39) |
V442E |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,464,021 (GRCm39) |
R218C |
possibly damaging |
Het |
| Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
| Clec11a |
T |
C |
7: 43,955,379 (GRCm39) |
T139A |
probably benign |
Het |
| Clstn1 |
A |
T |
4: 149,719,373 (GRCm39) |
T411S |
probably benign |
Het |
| Commd5 |
A |
T |
15: 76,784,824 (GRCm39) |
S74C |
probably damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,041,560 (GRCm39) |
P368Q |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,176,622 (GRCm39) |
M309V |
probably benign |
Het |
| Dhrs9 |
T |
A |
2: 69,231,611 (GRCm39) |
V257E |
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,201,952 (GRCm39) |
V993A |
probably damaging |
Het |
| Dok5 |
A |
T |
2: 170,712,735 (GRCm39) |
Q247L |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,359,582 (GRCm39) |
E331V |
unknown |
Het |
| Efs |
A |
G |
14: 55,157,451 (GRCm39) |
S287P |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,193,667 (GRCm39) |
N1384S |
possibly damaging |
Het |
| Flt4 |
A |
G |
11: 49,521,155 (GRCm39) |
E388G |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,331,303 (GRCm39) |
|
probably null |
Het |
| Fmo4 |
T |
C |
1: 162,621,672 (GRCm39) |
Y513C |
probably benign |
Het |
| Gm29106 |
T |
C |
1: 118,126,982 (GRCm39) |
S225P |
probably damaging |
Het |
| Gstt2 |
G |
A |
10: 75,668,354 (GRCm39) |
R134W |
probably damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,630,401 (GRCm39) |
T782A |
probably benign |
Het |
| Gzf1 |
G |
T |
2: 148,532,002 (GRCm39) |
R543L |
probably damaging |
Het |
| H2-Eb2 |
G |
A |
17: 34,553,321 (GRCm39) |
G169E |
probably damaging |
Het |
| Hdhd3 |
T |
A |
4: 62,418,027 (GRCm39) |
R50W |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,355,944 (GRCm39) |
K407E |
probably benign |
Het |
| Isl2 |
A |
G |
9: 55,452,240 (GRCm39) |
T271A |
probably benign |
Het |
| Kbtbd7 |
GTCTCTC |
GTC |
14: 79,665,364 (GRCm39) |
|
probably null |
Het |
| Kdm4b |
T |
A |
17: 56,703,319 (GRCm39) |
N671K |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,586,655 (GRCm39) |
L939H |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,789 (GRCm39) |
M822K |
probably damaging |
Het |
| Mettl18 |
C |
A |
1: 163,824,330 (GRCm39) |
T217N |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,532,189 (GRCm39) |
Y2083* |
probably null |
Het |
| Nckap1l |
T |
C |
15: 103,362,233 (GRCm39) |
|
probably benign |
Het |
| Nkx2-3 |
A |
G |
19: 43,600,986 (GRCm39) |
D16G |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,167,807 (GRCm39) |
S697P |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,456 (GRCm39) |
K62R |
possibly damaging |
Het |
| Or1e29 |
G |
C |
11: 73,667,652 (GRCm39) |
S167C |
probably benign |
Het |
| Or4k6 |
A |
T |
14: 50,475,825 (GRCm39) |
N172K |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,337,575 (GRCm39) |
V266A |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,107,503 (GRCm39) |
D638V |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,771,621 (GRCm39) |
D200G |
probably benign |
Het |
| Ptprs |
G |
T |
17: 56,726,502 (GRCm39) |
T1366K |
probably damaging |
Het |
| Sass6 |
A |
T |
3: 116,413,813 (GRCm39) |
R505S |
probably benign |
Het |
| Slc30a6 |
T |
C |
17: 74,714,233 (GRCm39) |
I84T |
probably benign |
Het |
| Sox10 |
A |
T |
15: 79,040,339 (GRCm39) |
F400L |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,723 (GRCm39) |
I624F |
probably damaging |
Het |
| Stpg4 |
A |
G |
17: 87,735,006 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
G |
T |
8: 83,963,309 (GRCm39) |
K340N |
probably damaging |
Het |
| Tspan12 |
T |
A |
6: 21,772,682 (GRCm39) |
H289L |
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,748,309 (GRCm39) |
T809S |
probably benign |
Het |
| Vmn1r43 |
C |
T |
6: 89,847,172 (GRCm39) |
V105M |
probably damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,534 (GRCm39) |
V156A |
probably benign |
Het |
| Wnt5a |
A |
G |
14: 28,240,236 (GRCm39) |
|
probably null |
Het |
| Wwp2 |
T |
A |
8: 108,244,592 (GRCm39) |
S255T |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,316,538 (GRCm39) |
T117A |
possibly damaging |
Het |
| Zfp800 |
C |
T |
6: 28,244,228 (GRCm39) |
V246I |
probably benign |
Het |
| Zfp955a |
G |
T |
17: 33,463,025 (GRCm39) |
Y35* |
probably null |
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 |
|
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'- ACCACCAGGAGGATCAGTAG -3'
(R):5'- GTGTATCAGGCACATGGGCATG -3'
Sequencing Primer
(F):5'- GATCAGTAGCCCCACCTTCGTTAG -3'
(R):5'- GCACATGGGCATGGTCTTCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation