Incidental Mutation 'R7063:Gbp4'
| ID |
548386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp4
|
| Ensembl Gene |
ENSMUSG00000079363 |
| Gene Name |
guanylate binding protein 4 |
| Synonyms |
Mpa2, Mpa-2, Mag-2 |
| MMRRC Submission |
045159-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105263633-105287452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105266314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 576
(R576C)
|
| 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: R576C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: R576C
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,941,132 (GRCm39) |
Y148C |
probably damaging |
Het |
| Casr |
T |
C |
16: 36,314,936 (GRCm39) |
I968V |
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,843,189 (GRCm39) |
|
probably null |
Het |
| Chst2 |
G |
T |
9: 95,287,621 (GRCm39) |
R242S |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,460,967 (GRCm39) |
D228V |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,532 (GRCm39) |
Y288C |
probably benign |
Het |
| Cyp2r1 |
A |
G |
7: 114,152,184 (GRCm39) |
S49P |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,233,394 (GRCm39) |
E251G |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,394,332 (GRCm39) |
R199G |
possibly damaging |
Het |
| Fat1 |
C |
T |
8: 45,493,812 (GRCm39) |
T3986I |
probably benign |
Het |
| Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm6408 |
T |
C |
5: 146,420,594 (GRCm39) |
I158T |
probably benign |
Het |
| Gpr89 |
C |
G |
3: 96,783,014 (GRCm39) |
R312P |
probably damaging |
Het |
| Idh2 |
A |
G |
7: 79,745,432 (GRCm39) |
V403A |
probably damaging |
Het |
| Lclat1 |
A |
G |
17: 73,546,986 (GRCm39) |
E301G |
possibly damaging |
Het |
| Lgmn |
A |
G |
12: 102,368,937 (GRCm39) |
Y181H |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,292,639 (GRCm39) |
Y417C |
probably damaging |
Het |
| Man1a |
G |
T |
10: 53,906,840 (GRCm39) |
N311K |
probably damaging |
Het |
| Nat10 |
G |
A |
2: 103,578,422 (GRCm39) |
L228F |
probably benign |
Het |
| Or10d3 |
T |
G |
9: 39,461,411 (GRCm39) |
Y252S |
possibly damaging |
Het |
| Or10v5 |
A |
G |
19: 11,805,548 (GRCm39) |
F281L |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,449 (GRCm39) |
D68G |
probably damaging |
Het |
| Or5p55 |
C |
A |
7: 107,567,411 (GRCm39) |
A269E |
probably benign |
Het |
| Pcmtd2 |
T |
A |
2: 181,496,776 (GRCm39) |
Y130* |
probably null |
Het |
| Potefam3f |
G |
A |
8: 20,479,013 (GRCm39) |
C7Y |
|
Het |
| Qrfprl |
A |
G |
6: 65,418,387 (GRCm39) |
|
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,652,864 (GRCm39) |
D62G |
possibly damaging |
Het |
| Serpina3m |
A |
T |
12: 104,357,726 (GRCm39) |
I217L |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,409,505 (GRCm39) |
R802G |
possibly damaging |
Het |
| Sypl2 |
A |
T |
3: 108,124,971 (GRCm39) |
M130K |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,184,386 (GRCm39) |
L503Q |
probably damaging |
Het |
| Ubald2 |
A |
G |
11: 116,325,443 (GRCm39) |
Q60R |
probably benign |
Het |
| Vav1 |
C |
T |
17: 57,618,860 (GRCm39) |
Q673* |
probably null |
Het |
| Vgll2 |
T |
C |
10: 51,904,072 (GRCm39) |
S312P |
probably benign |
Het |
| Vmn1r191 |
C |
T |
13: 22,362,864 (GRCm39) |
A297T |
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,418 (GRCm39) |
I281F |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,701,410 (GRCm39) |
Y30C |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,650 (GRCm39) |
N619S |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,150,549 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
A |
G |
15: 76,775,919 (GRCm39) |
I654V |
possibly damaging |
Het |
| Zmat2 |
A |
G |
18: 36,929,627 (GRCm39) |
N129S |
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 |
|
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'- CACAAAGTGTGTATCACAGTCTATCC -3'
(R):5'- AGCTGCAACAAACATGGTGG -3'
Sequencing Primer
(F):5'- CTTTTTCCTAAGGAGTGATAAAACGC -3'
(R):5'- AACTCTGCTTCCTCATAATGTGTAGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation