Incidental Mutation 'R4035:Gbp10'
| ID |
313664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp10
|
| Ensembl Gene |
ENSMUSG00000105096 |
| Gene Name |
guanylate-binding protein 10 |
| Synonyms |
|
| MMRRC Submission |
041613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105363565-105387399 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105372324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 145
(E145D)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000065588
AA Change: E145D
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000069042
Gene: ENSMUSG00000105096
AA Change: E145D
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,333,879 (GRCm39) |
F34L |
probably benign |
Het |
| Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,216,233 (GRCm39) |
|
probably benign |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Bhlhe41 |
A |
G |
6: 145,808,754 (GRCm39) |
S353P |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,835,541 (GRCm39) |
T52A |
probably benign |
Het |
| Coro2b |
A |
G |
9: 62,333,071 (GRCm39) |
|
probably benign |
Het |
| Ctcf |
A |
T |
8: 106,390,789 (GRCm39) |
E132V |
possibly damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
| Cxcl2 |
A |
T |
5: 91,052,272 (GRCm39) |
Q87L |
possibly damaging |
Het |
| Dop1a |
T |
C |
9: 86,376,486 (GRCm39) |
V240A |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,521,018 (GRCm39) |
V294I |
probably benign |
Het |
| Fnip2 |
C |
T |
3: 79,386,808 (GRCm39) |
V973I |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,630,348 (GRCm39) |
T1286A |
probably benign |
Het |
| Gsdme |
A |
T |
6: 50,206,428 (GRCm39) |
N138K |
possibly damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,172 (GRCm39) |
D266G |
probably benign |
Het |
| Henmt1 |
T |
C |
3: 108,866,001 (GRCm39) |
V199A |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
| Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
| Isl2 |
A |
G |
9: 55,449,754 (GRCm39) |
S119G |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,388,614 (GRCm39) |
N538D |
probably damaging |
Het |
| Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,232,385 (GRCm39) |
T318M |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,341,821 (GRCm39) |
N608S |
probably benign |
Het |
| Nolc1 |
GCA |
GCACCA |
19: 46,069,797 (GRCm39) |
|
probably benign |
Het |
| Or6d12 |
A |
G |
6: 116,493,590 (GRCm39) |
N284S |
possibly damaging |
Het |
| Or8b4 |
G |
A |
9: 37,829,937 (GRCm39) |
|
probably benign |
Het |
| Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,898,334 (GRCm39) |
K97E |
probably damaging |
Het |
| Pramel26 |
T |
A |
4: 143,537,026 (GRCm39) |
D435V |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,363,834 (GRCm39) |
M263K |
probably benign |
Het |
| Prtg |
G |
T |
9: 72,749,991 (GRCm39) |
E132* |
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,013,777 (GRCm39) |
V482A |
probably benign |
Het |
| Samsn1 |
A |
G |
16: 75,706,073 (GRCm39) |
M1T |
probably null |
Het |
| Scel |
A |
G |
14: 103,767,440 (GRCm39) |
N33S |
probably damaging |
Het |
| Sema4g |
A |
T |
19: 44,989,853 (GRCm39) |
Y644F |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,851,234 (GRCm39) |
T752M |
probably damaging |
Het |
| Snx27 |
T |
C |
3: 94,431,551 (GRCm39) |
D281G |
probably damaging |
Het |
| Spesp1 |
T |
A |
9: 62,180,318 (GRCm39) |
I197L |
probably benign |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,199 (GRCm39) |
|
probably null |
Het |
| Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
| Ttk |
C |
A |
9: 83,736,890 (GRCm39) |
P450T |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,740,165 (GRCm39) |
Q3458P |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,951,893 (GRCm39) |
F152L |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
| Zfa-ps |
T |
A |
10: 52,420,636 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp267 |
T |
G |
3: 36,218,989 (GRCm39) |
H337Q |
possibly damaging |
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 |
|
R4421:Gbp10
|
UTSW |
5 |
105,372,517 (GRCm39) |
splice site |
probably null |
|
|
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'- AGCTTCAAGGCATTCTCCAGG -3'
(R):5'- TCTGAGCAGCACCTTCATCTAC -3'
Sequencing Primer
(F):5'- AAGGCATTCTCCAGGTAGTCATC -3'
(R):5'- GAGCAGCTGCAGTATCCTTCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation