Incidental Mutation 'R9485:Gbp4'
ID |
716512 |
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 # |
R9485 (G1)
|
Quality Score |
214.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
105263633-105287452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105269796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 344
(M344K)
|
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: M344K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098522 Gene: ENSMUSG00000079363 AA Change: M344K
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: ENSMUST00000197799
|
SMART Domains |
Protein: ENSMUSP00000142493 Gene: ENSMUSG00000079363
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: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,383,400 (GRCm39) |
D855G |
possibly damaging |
Het |
4930486L24Rik |
A |
T |
13: 61,001,059 (GRCm39) |
V159D |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,979,438 (GRCm39) |
A241T |
probably benign |
Het |
Apoa4 |
T |
C |
9: 46,152,453 (GRCm39) |
M1T |
probably null |
Het |
Atn1 |
T |
C |
6: 124,722,748 (GRCm39) |
K776E |
unknown |
Het |
Atp1a2 |
A |
G |
1: 172,105,822 (GRCm39) |
*948R |
probably null |
Het |
Atp7b |
T |
C |
8: 22,502,778 (GRCm39) |
Q801R |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,945,398 (GRCm39) |
S2824T |
probably damaging |
Het |
Cacng3 |
A |
T |
7: 122,361,435 (GRCm39) |
I109F |
probably damaging |
Het |
Cass4 |
T |
C |
2: 172,269,805 (GRCm39) |
F629S |
probably benign |
Het |
Ccdc168 |
T |
G |
1: 44,095,399 (GRCm39) |
K1900Q |
possibly damaging |
Het |
Cnot6l |
T |
C |
5: 96,230,858 (GRCm39) |
T370A |
probably damaging |
Het |
Cntnap5c |
A |
C |
17: 58,409,103 (GRCm39) |
D447A |
probably damaging |
Het |
Col11a2 |
T |
A |
17: 34,258,669 (GRCm39) |
L14Q |
unknown |
Het |
Dennd4a |
T |
G |
9: 64,814,388 (GRCm39) |
Y1505* |
probably null |
Het |
Dhx32 |
T |
C |
7: 133,327,110 (GRCm39) |
M464V |
possibly damaging |
Het |
Dip2b |
T |
C |
15: 100,052,924 (GRCm39) |
V266A |
probably benign |
Het |
Dnajb6 |
C |
T |
5: 29,986,517 (GRCm39) |
Q220* |
probably null |
Het |
Dnmt3a |
G |
A |
12: 3,916,121 (GRCm39) |
S102N |
probably benign |
Het |
Dph5 |
A |
T |
3: 115,681,977 (GRCm39) |
|
probably benign |
Het |
Ear6 |
T |
A |
14: 52,091,489 (GRCm39) |
L12H |
|
Het |
Erp27 |
T |
C |
6: 136,886,548 (GRCm39) |
T162A |
possibly damaging |
Het |
Fance |
T |
A |
17: 28,536,479 (GRCm39) |
L13H |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,089,405 (GRCm39) |
V947D |
probably benign |
Het |
Gab1 |
G |
A |
8: 81,515,484 (GRCm39) |
T278M |
probably damaging |
Het |
Gpr87 |
C |
T |
3: 59,087,005 (GRCm39) |
V167M |
possibly damaging |
Het |
Gramd1a |
T |
G |
7: 30,829,963 (GRCm39) |
D708A |
unknown |
Het |
Gzmd |
T |
A |
14: 56,368,160 (GRCm39) |
I100F |
probably benign |
Het |
Hcrtr1 |
T |
A |
4: 130,031,054 (GRCm39) |
M77L |
possibly damaging |
Het |
Hipk2 |
C |
A |
6: 38,680,445 (GRCm39) |
R965L |
possibly damaging |
Het |
Ift88 |
T |
C |
14: 57,675,724 (GRCm39) |
M79T |
probably benign |
Het |
Ighv1-12 |
T |
C |
12: 114,579,525 (GRCm39) |
Y99C |
possibly damaging |
Het |
Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
Il22b |
A |
G |
10: 118,130,314 (GRCm39) |
V63A |
probably benign |
Het |
Mllt1 |
C |
T |
17: 57,207,184 (GRCm39) |
R220H |
probably damaging |
Het |
Mroh8 |
T |
C |
2: 157,071,913 (GRCm39) |
T531A |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,181,802 (GRCm39) |
K1833R |
probably benign |
Het |
Nfkbie |
C |
T |
17: 45,871,353 (GRCm39) |
T270I |
probably damaging |
Het |
Or4c110 |
G |
A |
2: 88,831,709 (GRCm39) |
P308S |
unknown |
Het |
Or52b3 |
A |
T |
7: 102,204,013 (GRCm39) |
N174I |
probably damaging |
Het |
Or52e5 |
C |
T |
7: 104,718,703 (GRCm39) |
H10Y |
possibly damaging |
Het |
Pcdh8 |
A |
T |
14: 80,005,689 (GRCm39) |
F900I |
probably damaging |
Het |
Pcolce2 |
T |
A |
9: 95,520,720 (GRCm39) |
C32* |
probably null |
Het |
Pus7 |
A |
T |
5: 23,973,859 (GRCm39) |
S212T |
probably benign |
Het |
Rgs12 |
G |
T |
5: 35,189,614 (GRCm39) |
W1322L |
probably damaging |
Het |
Sec1 |
G |
A |
7: 45,328,033 (GRCm39) |
T338I |
probably damaging |
Het |
Slc25a36 |
T |
C |
9: 96,962,522 (GRCm39) |
K156E |
probably benign |
Het |
Snrpn |
C |
T |
7: 59,637,212 (GRCm39) |
D35N |
probably damaging |
Het |
Sox9 |
A |
G |
11: 112,673,705 (GRCm39) |
S99G |
probably benign |
Het |
Spmip3 |
T |
C |
1: 177,580,545 (GRCm39) |
V130A |
possibly damaging |
Het |
Tacc3 |
T |
C |
5: 33,821,644 (GRCm39) |
S135P |
possibly damaging |
Het |
Taf2 |
T |
C |
15: 54,911,667 (GRCm39) |
E583G |
probably benign |
Het |
Tmprss7 |
T |
A |
16: 45,498,282 (GRCm39) |
K366* |
probably null |
Het |
Trpm6 |
G |
T |
19: 18,755,978 (GRCm39) |
V74L |
probably benign |
Het |
Ttbk2 |
G |
T |
2: 120,575,986 (GRCm39) |
T997N |
probably benign |
Het |
Utp25 |
C |
A |
1: 192,812,541 (GRCm39) |
|
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,183,046 (GRCm39) |
I218F |
probably damaging |
Het |
Vps50 |
T |
C |
6: 3,592,557 (GRCm39) |
V730A |
probably damaging |
Het |
Wdr47 |
A |
T |
3: 108,544,371 (GRCm39) |
I665F |
probably damaging |
Het |
Wnt7a |
T |
A |
6: 91,343,297 (GRCm39) |
N195I |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,251,885 (GRCm39) |
|
probably benign |
Het |
Zfp709 |
T |
A |
8: 72,643,669 (GRCm39) |
V366E |
possibly damaging |
Het |
Zfp985 |
T |
A |
4: 147,668,280 (GRCm39) |
C383S |
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 |
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'- GCCATGACAGTTAATGCCATC -3'
(R):5'- CATGCATTTGTTTTCATGCCAAG -3'
Sequencing Primer
(F):5'- ATGACAGTTAATGCCATCAACAG -3'
(R):5'- AACTGATAGTTTGCTGAGGAGG -3'
|
Posted On |
2022-07-18 |