Incidental Mutation 'R5751:Gbp9'
| ID |
446006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp9
|
| Ensembl Gene |
ENSMUSG00000029298 |
| Gene Name |
guanylate-binding protein 9 |
| Synonyms |
|
| MMRRC Submission |
043201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5751 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105229124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 508
(Q508K)
|
| 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: Q508K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: Q508K
| 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: Q508K
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: Q508K
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
| Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
| Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
| Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
| Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
| Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
| Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
| Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
probably null |
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 |
|
R5063:Gbp9
|
UTSW |
5 |
105,233,028 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- ACGACTGTGTTCATCCCATGAC -3'
(R):5'- GAATCATGCTCTCCAGGTGTG -3'
Sequencing Primer
(F):5'- CCTGGCTGGTGTACAAGAACTAAC -3'
(R):5'- CCAAGGGGAGTCTGGTTCCTATG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation