Incidental Mutation 'R8274:Gbp4'
| ID |
637888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp4
|
| Ensembl Gene |
ENSMUSG00000079363 |
| Gene Name |
guanylate binding protein 4 |
| Synonyms |
Mpa2, Mpa-2, Mag-2 |
| MMRRC Submission |
067697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8274 (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 105267338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 527
(N527S)
|
| 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: N527S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: N527S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
C |
11: 3,844,964 (GRCm39) |
T42A |
possibly damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,181 (GRCm39) |
V294A |
probably benign |
Het |
| Ahr |
A |
C |
12: 35,560,068 (GRCm39) |
V195G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,430,718 (GRCm39) |
I1022N |
probably benign |
Het |
| Arsk |
A |
T |
13: 76,220,303 (GRCm39) |
C264S |
probably damaging |
Het |
| Astn2 |
A |
G |
4: 65,570,098 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
C |
A |
6: 136,537,988 (GRCm39) |
T407K |
probably benign |
Het |
| Axl |
A |
G |
7: 25,463,438 (GRCm39) |
I613T |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,957,716 (GRCm39) |
M1021T |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,861 (GRCm39) |
V765A |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,839,432 (GRCm39) |
Y1323H |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,799,029 (GRCm39) |
G1794V |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,960,453 (GRCm39) |
M3321V |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,160,612 (GRCm39) |
S65P |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,551 (GRCm39) |
S157P |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,017,531 (GRCm39) |
H1500L |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,324,722 (GRCm39) |
A772V |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,288,786 (GRCm39) |
K246* |
probably null |
Het |
| Fbxl9 |
T |
A |
8: 106,042,166 (GRCm39) |
I221F |
probably benign |
Het |
| Gpr157 |
C |
T |
4: 150,172,500 (GRCm39) |
T97M |
probably damaging |
Het |
| Gpt2 |
T |
C |
8: 86,242,853 (GRCm39) |
L295P |
probably benign |
Het |
| Grm8 |
T |
A |
6: 27,761,335 (GRCm39) |
K296N |
probably benign |
Het |
| Gss |
T |
A |
2: 155,429,424 (GRCm39) |
I23L |
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,159,230 (GRCm39) |
V442A |
possibly damaging |
Het |
| Hoxa3 |
C |
A |
6: 52,147,524 (GRCm39) |
R243L |
unknown |
Het |
| Junb |
T |
A |
8: 85,705,058 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,910,987 (GRCm39) |
I514T |
probably damaging |
Het |
| Kif11 |
C |
A |
19: 37,391,994 (GRCm39) |
T463N |
probably damaging |
Het |
| Lmf2 |
C |
T |
15: 89,236,866 (GRCm39) |
G459S |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,250 (GRCm39) |
T85A |
possibly damaging |
Het |
| Myo9b |
G |
A |
8: 71,812,480 (GRCm39) |
A2084T |
probably benign |
Het |
| Oog4 |
T |
A |
4: 143,166,459 (GRCm39) |
|
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,795 (GRCm39) |
H57Q |
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ptprk |
G |
T |
10: 28,456,408 (GRCm39) |
R1056L |
probably damaging |
Het |
| Rfx2 |
C |
T |
17: 57,111,348 (GRCm39) |
A75T |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,632,548 (GRCm39) |
T441A |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,925,830 (GRCm39) |
V292A |
probably benign |
Het |
| Smok2a |
G |
A |
17: 13,445,781 (GRCm39) |
A453T |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,422,738 (GRCm39) |
V427A |
probably damaging |
Het |
| Tmem208 |
T |
G |
8: 106,055,257 (GRCm39) |
I106S |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,299,230 (GRCm39) |
|
probably benign |
Het |
| Trav9-2 |
G |
T |
14: 53,828,810 (GRCm39) |
R60L |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,853,089 (GRCm39) |
K624E |
probably benign |
Het |
| Zfp318 |
A |
T |
17: 46,723,915 (GRCm39) |
M1973L |
probably benign |
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 |
|
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'- CCCATGACCTGGCTGAATAC -3'
(R):5'- AGAAACATGCTCCCCAAGTGTG -3'
Sequencing Primer
(F):5'- GAATACTTTCTCCCACTGCCTGGAG -3'
(R):5'- ATGCTCCTTTTCAGATTTGAATTGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation