Incidental Mutation 'R5063:Gbp9'
| ID |
386739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp9
|
| Ensembl Gene |
ENSMUSG00000029298 |
| Gene Name |
guanylate-binding protein 9 |
| Synonyms |
|
| MMRRC Submission |
042653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5063 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105233028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 208
(Y208C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000031238]
[ENSMUST00000100961]
|
| AlphaFold |
Q8BTS3 |
| 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: ENSMUST00000031238
AA Change: Y208C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: Y208C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
1.2e-117 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
4.5e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100961
AA Change: Y208C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: Y208C
| 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 |
noncoding transcript
Transcript: ENSMUST00000196820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199453
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,901,315 (GRCm39) |
H970R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,471,469 (GRCm39) |
M1496V |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,763,296 (GRCm39) |
T851S |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,874,394 (GRCm39) |
I593T |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,340 (GRCm39) |
S1782P |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,629,074 (GRCm39) |
R578* |
probably null |
Het |
| Casp8 |
A |
T |
1: 58,883,533 (GRCm39) |
H280L |
probably damaging |
Het |
| Cd274 |
G |
T |
19: 29,361,543 (GRCm39) |
D284Y |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,976,715 (GRCm39) |
C2441S |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,267,272 (GRCm39) |
K118* |
probably null |
Het |
| Chst12 |
G |
T |
5: 140,510,167 (GRCm39) |
E265* |
probably null |
Het |
| Cp |
C |
A |
3: 20,043,379 (GRCm39) |
Q22K |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 87,222,306 (GRCm39) |
W404R |
probably damaging |
Het |
| Dnajb13 |
T |
G |
7: 100,160,030 (GRCm39) |
E69A |
probably damaging |
Het |
| Dzip1l |
A |
G |
9: 99,549,705 (GRCm39) |
E725G |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,774,117 (GRCm39) |
K373* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,195,266 (GRCm39) |
T322I |
unknown |
Het |
| Gtf2i |
T |
A |
5: 134,289,425 (GRCm39) |
K418N |
probably damaging |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,472,914 (GRCm39) |
D251V |
probably damaging |
Het |
| Itpr3 |
A |
T |
17: 27,308,885 (GRCm39) |
I363F |
possibly damaging |
Het |
| Khnyn |
A |
T |
14: 56,124,660 (GRCm39) |
K305* |
probably null |
Het |
| Klf17 |
A |
G |
4: 117,617,856 (GRCm39) |
V167A |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,071,795 (GRCm39) |
D369G |
probably benign |
Het |
| Lrrc31 |
A |
G |
3: 30,744,085 (GRCm39) |
V141A |
possibly damaging |
Het |
| Msh5 |
A |
T |
17: 35,261,164 (GRCm39) |
|
probably null |
Het |
| Neb |
G |
A |
2: 52,113,224 (GRCm39) |
|
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,785,009 (GRCm39) |
S216T |
possibly damaging |
Het |
| Or2t6 |
A |
T |
14: 14,175,593 (GRCm38) |
M163K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,469,191 (GRCm39) |
I50V |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Ppy |
A |
G |
11: 101,991,525 (GRCm39) |
Y5H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,081,734 (GRCm39) |
L112S |
probably damaging |
Het |
| Ptov1 |
A |
G |
7: 44,515,026 (GRCm39) |
I195T |
possibly damaging |
Het |
| Rassf10 |
C |
A |
7: 112,553,631 (GRCm39) |
D77E |
probably benign |
Het |
| Slc25a45 |
T |
C |
19: 5,934,490 (GRCm39) |
S153P |
possibly damaging |
Het |
| Slco1a5 |
G |
A |
6: 142,204,791 (GRCm39) |
R126C |
probably damaging |
Het |
| Srebf2 |
T |
C |
15: 82,061,652 (GRCm39) |
V366A |
probably benign |
Het |
| St6galnac5 |
T |
C |
3: 152,686,772 (GRCm39) |
S61G |
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,088,084 (GRCm39) |
C818S |
possibly damaging |
Het |
| Tex15 |
T |
G |
8: 34,072,638 (GRCm39) |
F2728L |
possibly damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,382,558 (GRCm39) |
F190Y |
probably damaging |
Het |
| Tmem175 |
T |
C |
5: 108,794,298 (GRCm39) |
L476P |
probably damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,385,689 (GRCm39) |
K248R |
probably benign |
Het |
| Tnk2 |
T |
A |
16: 32,489,668 (GRCm39) |
F316I |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,372 (GRCm39) |
M477L |
probably benign |
Het |
| Vmn2r83 |
A |
C |
10: 79,314,921 (GRCm39) |
I390L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,648,603 (GRCm39) |
Y49C |
probably damaging |
Het |
| Zdhhc4 |
T |
A |
5: 143,302,377 (GRCm39) |
I318F |
probably damaging |
Het |
| Zmat4 |
A |
T |
8: 24,238,457 (GRCm39) |
D27V |
probably damaging |
Het |
|
| Other mutations in Gbp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Gbp9
|
APN |
5 |
105,229,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00419:Gbp9
|
APN |
5 |
105,241,943 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00425:Gbp9
|
APN |
5 |
105,253,620 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL00597:Gbp9
|
APN |
5 |
105,242,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01362:Gbp9
|
APN |
5 |
105,228,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01679:Gbp9
|
APN |
5 |
105,233,038 (GRCm39) |
splice site |
probably null |
|
|
IGL01803:Gbp9
|
APN |
5 |
105,232,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01803:Gbp9
|
APN |
5 |
105,242,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02054:Gbp9
|
APN |
5 |
105,230,673 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02474:Gbp9
|
APN |
5 |
105,242,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL02633:Gbp9
|
APN |
5 |
105,231,431 (GRCm39) |
splice site |
probably benign |
|
|
IGL02666:Gbp9
|
APN |
5 |
105,242,141 (GRCm39) |
splice site |
probably null |
|
|
IGL02689:Gbp9
|
APN |
5 |
105,253,662 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02812:Gbp9
|
APN |
5 |
105,231,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03132:Gbp9
|
APN |
5 |
105,232,819 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03274:Gbp9
|
APN |
5 |
105,230,652 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0410:Gbp9
|
UTSW |
5 |
105,232,939 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1018:Gbp9
|
UTSW |
5 |
105,228,126 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1479:Gbp9
|
UTSW |
5 |
105,241,930 (GRCm39) |
splice site |
probably benign |
|
|
R1655:Gbp9
|
UTSW |
5 |
105,229,558 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1658:Gbp9
|
UTSW |
5 |
105,242,334 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1757:Gbp9
|
UTSW |
5 |
105,242,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Gbp9
|
UTSW |
5 |
105,229,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1986:Gbp9
|
UTSW |
5 |
105,253,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1986:Gbp9
|
UTSW |
5 |
105,253,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Gbp9
|
UTSW |
5 |
105,242,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2302:Gbp9
|
UTSW |
5 |
105,241,958 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2378:Gbp9
|
UTSW |
5 |
105,228,042 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2997:Gbp9
|
UTSW |
5 |
105,230,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3745:Gbp9
|
UTSW |
5 |
105,253,724 (GRCm39) |
start gained |
probably benign |
|
|
R4182:Gbp9
|
UTSW |
5 |
105,231,461 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4485:Gbp9
|
UTSW |
5 |
105,231,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4718:Gbp9
|
UTSW |
5 |
105,231,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5099:Gbp9
|
UTSW |
5 |
105,242,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Gbp9
|
UTSW |
5 |
105,228,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5199:Gbp9
|
UTSW |
5 |
105,231,678 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5712:Gbp9
|
UTSW |
5 |
105,242,421 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5751:Gbp9
|
UTSW |
5 |
105,229,124 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5895:Gbp9
|
UTSW |
5 |
105,230,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Gbp9
|
UTSW |
5 |
105,231,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6646:Gbp9
|
UTSW |
5 |
105,230,769 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7559:Gbp9
|
UTSW |
5 |
105,232,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Gbp9
|
UTSW |
5 |
105,251,745 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8042:Gbp9
|
UTSW |
5 |
105,242,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8288:Gbp9
|
UTSW |
5 |
105,253,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Gbp9
|
UTSW |
5 |
105,229,171 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8354:Gbp9
|
UTSW |
5 |
105,242,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8395:Gbp9
|
UTSW |
5 |
105,228,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Gbp9
|
UTSW |
5 |
105,231,464 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8751:Gbp9
|
UTSW |
5 |
105,229,117 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8808:Gbp9
|
UTSW |
5 |
105,232,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9105:Gbp9
|
UTSW |
5 |
105,241,942 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9116:Gbp9
|
UTSW |
5 |
105,231,695 (GRCm39) |
missense |
|
|
|
R9354:Gbp9
|
UTSW |
5 |
105,232,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9513:Gbp9
|
UTSW |
5 |
105,229,091 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9709:Gbp9
|
UTSW |
5 |
105,231,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9717:Gbp9
|
UTSW |
5 |
105,253,587 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Gbp9
|
UTSW |
5 |
105,241,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGCCTTTGTTCCTTCCCGG -3'
(R):5'- AAGCCATGTTCAGGTCTGTGG -3'
Sequencing Primer
(F):5'- CCGGAACTTAAGATCCAGTTGGTC -3'
(R):5'- GCTTCTCTACTGAAGTCACATAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation