Incidental Mutation 'R4421:Gbp10'
| ID |
327089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp10
|
| Ensembl Gene |
ENSMUSG00000105096 |
| Gene Name |
guanylate-binding protein 10 |
| Synonyms |
|
| MMRRC Submission |
041142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4421 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105363565-105387399 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 105372517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050011]
[ENSMUST00000065588]
|
| AlphaFold |
Q000W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050011
|
| SMART Domains |
Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
7.6e-118 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
2.1e-117 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000065588
|
| SMART Domains |
Protein: ENSMUSP00000069042
Gene: ENSMUSG00000105096
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
5e-115 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
3.6e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196634
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
C |
9: 106,312,912 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,714,421 (GRCm39) |
E234G |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,602,174 (GRCm39) |
D673G |
probably benign |
Het |
| Capza3 |
G |
A |
6: 139,987,768 (GRCm39) |
M122I |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,242,800 (GRCm39) |
S735P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,441,508 (GRCm39) |
F13L |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,672 (GRCm39) |
M1078K |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,360,763 (GRCm39) |
I267F |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,623,221 (GRCm39) |
*299W |
probably null |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,713 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
T |
A |
11: 106,121,964 (GRCm39) |
Y160N |
probably damaging |
Het |
| Dhx35 |
A |
T |
2: 158,648,321 (GRCm39) |
R60W |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,283,891 (GRCm39) |
T467A |
possibly damaging |
Het |
| Hip1r |
G |
C |
5: 124,135,925 (GRCm39) |
G542A |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,867,360 (GRCm39) |
Y761C |
probably benign |
Het |
| Krt13 |
T |
G |
11: 100,009,761 (GRCm39) |
T340P |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,071,412 (GRCm39) |
C435R |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,393,739 (GRCm39) |
I53K |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,929,707 (GRCm39) |
F544L |
probably damaging |
Het |
| Neurod2 |
G |
T |
11: 98,219,026 (GRCm39) |
S46* |
probably null |
Het |
| Nsd3 |
T |
A |
8: 26,131,288 (GRCm39) |
S218T |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4p22 |
A |
T |
2: 88,317,585 (GRCm39) |
N170Y |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,425,056 (GRCm39) |
D433E |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,154,836 (GRCm39) |
D278G |
probably damaging |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,723,719 (GRCm39) |
E311G |
probably damaging |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gbp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01470:Gbp10
|
APN |
5 |
105,368,980 (GRCm39) |
splice site |
probably benign |
|
|
IGL01680:Gbp10
|
APN |
5 |
105,372,137 (GRCm39) |
splice site |
probably null |
|
|
IGL01809:Gbp10
|
APN |
5 |
105,365,225 (GRCm39) |
missense |
probably benign |
|
|
IGL01845:Gbp10
|
APN |
5 |
105,367,815 (GRCm39) |
splice site |
probably null |
|
|
IGL02011:Gbp10
|
APN |
5 |
105,368,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Gbp10
|
APN |
5 |
105,383,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02533:Gbp10
|
APN |
5 |
105,367,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Gbp10
|
APN |
5 |
105,366,368 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0349:Gbp10
|
UTSW |
5 |
105,368,942 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0462:Gbp10
|
UTSW |
5 |
105,366,390 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0535:Gbp10
|
UTSW |
5 |
105,368,877 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1223:Gbp10
|
UTSW |
5 |
105,366,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Gbp10
|
UTSW |
5 |
105,372,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Gbp10
|
UTSW |
5 |
105,372,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Gbp10
|
UTSW |
5 |
105,372,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3739:Gbp10
|
UTSW |
5 |
105,372,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4035:Gbp10
|
UTSW |
5 |
105,372,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5207:Gbp10
|
UTSW |
5 |
105,372,575 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5338:Gbp10
|
UTSW |
5 |
105,372,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Gbp10
|
UTSW |
5 |
105,372,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Gbp10
|
UTSW |
5 |
105,366,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6156:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R6285:Gbp10
|
UTSW |
5 |
105,366,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Gbp10
|
UTSW |
5 |
105,383,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6908:Gbp10
|
UTSW |
5 |
105,368,898 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7339:Gbp10
|
UTSW |
5 |
105,367,964 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7396:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7397:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7399:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7554:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7555:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7574:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7575:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7576:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7577:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7578:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
|
R7975:Gbp10
|
UTSW |
5 |
105,368,967 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8293:Gbp10
|
UTSW |
5 |
105,372,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Gbp10
|
UTSW |
5 |
105,368,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Gbp10
|
UTSW |
5 |
105,369,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9086:Gbp10
|
UTSW |
5 |
105,366,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9149:Gbp10
|
UTSW |
5 |
105,366,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9402:Gbp10
|
UTSW |
5 |
105,381,863 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9582:Gbp10
|
UTSW |
5 |
105,372,256 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGATTTGGGGAAGACTTTGCTC -3'
(R):5'- CAAGTCCCTTCTGAGGAGTG -3'
Sequencing Primer
(F):5'- TGACATAACTGGCACTTGGC -3'
(R):5'- AGGAGTGCTCTGCTCAGAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation