Incidental Mutation 'R1541:Gbp4'
ID |
171724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp4
|
Ensembl Gene |
ENSMUSG00000079363 |
Gene Name |
guanylate binding protein 4 |
Synonyms |
Mpa2, Mpa-2, Mag-2 |
MMRRC Submission |
039580-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1541 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
105263633-105287452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105266275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 589
(M589L)
|
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 benign
Transcript: ENSMUST00000100962
AA Change: M589L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098522 Gene: ENSMUSG00000079363 AA Change: M589L
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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
A |
G |
14: 103,286,769 (GRCm39) |
D24G |
probably damaging |
Het |
Angptl2 |
G |
A |
2: 33,136,177 (GRCm39) |
R454H |
probably benign |
Het |
Atat1 |
T |
A |
17: 36,215,223 (GRCm39) |
N181I |
probably damaging |
Het |
Atp6v0d2 |
A |
C |
4: 19,910,645 (GRCm39) |
F82V |
probably damaging |
Het |
Calhm4 |
T |
C |
10: 33,917,659 (GRCm39) |
H264R |
probably benign |
Het |
Casp3 |
A |
G |
8: 47,087,369 (GRCm39) |
I105M |
probably benign |
Het |
Ccdc33 |
T |
A |
9: 58,024,749 (GRCm39) |
D159V |
probably damaging |
Het |
Cd163 |
A |
C |
6: 124,304,920 (GRCm39) |
D1099A |
probably benign |
Het |
Cep128 |
A |
T |
12: 91,315,555 (GRCm39) |
S110R |
probably damaging |
Het |
Cfap43 |
A |
T |
19: 47,752,291 (GRCm39) |
|
probably null |
Het |
Cfap58 |
T |
C |
19: 47,971,969 (GRCm39) |
I633T |
probably damaging |
Het |
Clvs1 |
A |
G |
4: 9,281,814 (GRCm39) |
H86R |
probably benign |
Het |
Comt |
T |
C |
16: 18,230,565 (GRCm39) |
K48R |
probably benign |
Het |
Crip2 |
T |
C |
12: 113,108,586 (GRCm39) |
V64A |
possibly damaging |
Het |
Cstdc5 |
T |
A |
16: 36,187,863 (GRCm39) |
M1L |
probably damaging |
Het |
Cwf19l2 |
T |
A |
9: 3,456,760 (GRCm39) |
S698T |
probably damaging |
Het |
Dis3l |
T |
C |
9: 64,214,771 (GRCm39) |
I933V |
probably benign |
Het |
Dnah8 |
C |
A |
17: 30,966,221 (GRCm39) |
N2470K |
probably damaging |
Het |
Dstn |
T |
C |
2: 143,780,408 (GRCm39) |
V36A |
possibly damaging |
Het |
Dtx1 |
T |
A |
5: 120,848,411 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
G |
A |
14: 119,116,890 (GRCm39) |
S782L |
probably damaging |
Het |
Ece1 |
T |
A |
4: 137,675,971 (GRCm39) |
|
probably null |
Het |
Erich1 |
A |
G |
8: 14,080,688 (GRCm39) |
I277T |
probably damaging |
Het |
Grip1 |
T |
C |
10: 119,836,448 (GRCm39) |
I440T |
probably damaging |
Het |
Helz |
C |
T |
11: 107,560,874 (GRCm39) |
S1311L |
probably benign |
Het |
Herc2 |
A |
T |
7: 55,785,405 (GRCm39) |
I1552F |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,962,689 (GRCm39) |
T459A |
probably benign |
Het |
Knop1 |
G |
A |
7: 118,455,009 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
C |
A |
11: 115,743,947 (GRCm39) |
T758K |
probably benign |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Lrrc71 |
T |
C |
3: 87,649,148 (GRCm39) |
D340G |
possibly damaging |
Het |
Luzp1 |
A |
G |
4: 136,270,636 (GRCm39) |
D953G |
probably damaging |
Het |
Mst1r |
T |
C |
9: 107,794,562 (GRCm39) |
V1247A |
probably damaging |
Het |
Ncoa4 |
A |
T |
14: 31,898,845 (GRCm39) |
K555M |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,257,224 (GRCm39) |
L773Q |
probably benign |
Het |
Ndc1 |
C |
T |
4: 107,228,485 (GRCm39) |
Q70* |
probably null |
Het |
Nfe2l3 |
C |
T |
6: 51,434,585 (GRCm39) |
L382F |
probably damaging |
Het |
Nlrp4b |
C |
A |
7: 10,458,979 (GRCm39) |
T399N |
possibly damaging |
Het |
Nsmce2 |
T |
A |
15: 59,473,234 (GRCm39) |
D250E |
probably damaging |
Het |
Nudt14 |
A |
T |
12: 112,898,548 (GRCm39) |
L184Q |
probably damaging |
Het |
Ogdhl |
G |
A |
14: 32,062,624 (GRCm39) |
R570H |
possibly damaging |
Het |
Or5p56 |
T |
C |
7: 107,590,048 (GRCm39) |
F159L |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,819,988 (GRCm39) |
D525G |
probably damaging |
Het |
Plag1 |
A |
G |
4: 3,904,085 (GRCm39) |
S369P |
probably benign |
Het |
Ranbp2 |
A |
T |
10: 58,318,916 (GRCm39) |
T2476S |
possibly damaging |
Het |
Rnmt |
T |
C |
18: 68,440,853 (GRCm39) |
L172P |
probably damaging |
Het |
Sec24a |
T |
A |
11: 51,634,623 (GRCm39) |
H101L |
probably benign |
Het |
Sirpd |
T |
A |
3: 15,385,744 (GRCm39) |
T53S |
possibly damaging |
Het |
Srm |
A |
G |
4: 148,677,881 (GRCm39) |
D173G |
probably damaging |
Het |
Srp54b |
A |
G |
12: 55,302,844 (GRCm39) |
D380G |
probably benign |
Het |
Svs5 |
C |
T |
2: 164,078,929 (GRCm39) |
R326Q |
possibly damaging |
Het |
Tent4b |
T |
C |
8: 88,972,227 (GRCm39) |
V222A |
probably damaging |
Het |
Tfap2b |
C |
T |
1: 19,304,294 (GRCm39) |
T350M |
probably damaging |
Het |
Tie1 |
A |
T |
4: 118,341,070 (GRCm39) |
C304S |
probably damaging |
Het |
Tsc2 |
G |
T |
17: 24,850,950 (GRCm39) |
T36N |
probably damaging |
Het |
Wdhd1 |
A |
T |
14: 47,505,649 (GRCm39) |
Y274* |
probably null |
Het |
Wdr37 |
T |
C |
13: 8,870,574 (GRCm39) |
T373A |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,342,634 (GRCm39) |
N1625I |
possibly damaging |
Het |
Ythdf1 |
A |
C |
2: 180,560,936 (GRCm39) |
S35A |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,008,928 (GRCm39) |
N298S |
possibly damaging |
Het |
Zfp541 |
T |
A |
7: 15,812,437 (GRCm39) |
D363E |
probably benign |
Het |
Zgpat |
A |
G |
2: 181,020,658 (GRCm39) |
D277G |
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,898,110 (GRCm39) |
N271K |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCCAGATGCCCTTTAATCAGCAC -3'
(R):5'- GCAATGCCCATTGTCCAGCTTC -3'
Sequencing Primer
(F):5'- ATGCCCTTTAATCAGCACTTTTTATG -3'
(R):5'- ATGCACTAAGGATCGCTTGC -3'
|
Posted On |
2014-04-13 |