Incidental Mutation 'R7613:Gbp8'
| ID |
588718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp8
|
| Ensembl Gene |
ENSMUSG00000034438 |
| Gene Name |
guanylate-binding protein 8 |
| Synonyms |
5830443L24Rik |
| MMRRC Submission |
045681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R7613 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105160379-105201475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105178880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 145
(E145G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000112718]
|
| AlphaFold |
Q2V6D6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031235
AA Change: E145G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438
AA Change: E145G
| 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 damaging
Transcript: ENSMUST00000112718
AA Change: E145G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108338
Gene: ENSMUSG00000034438
AA Change: E145G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
214 |
5e-95 |
PFAM |
|
Pfam:GBP_C
|
206 |
493 |
1e-115 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adgrb2 |
CTATA |
CTATATA |
4: 129,915,006 (GRCm39) |
|
probably benign |
Het |
| Adh1 |
T |
A |
3: 137,992,592 (GRCm39) |
L236* |
probably null |
Het |
| Akt2 |
A |
G |
7: 27,336,595 (GRCm39) |
I448V |
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,956,928 (GRCm39) |
T117M |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,788,120 (GRCm39) |
D1605E |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,302,956 (GRCm39) |
G2506R |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,948,063 (GRCm39) |
F31L |
possibly damaging |
Het |
| Cenpj |
G |
A |
14: 56,764,501 (GRCm39) |
R1304* |
probably null |
Het |
| Cfap58 |
A |
G |
19: 47,970,561 (GRCm39) |
D593G |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,107,777 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
G |
T |
1: 93,122,311 (GRCm39) |
A735S |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,439,816 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
T |
9: 64,960,402 (GRCm39) |
T311M |
possibly damaging |
Het |
| Eps15 |
T |
C |
4: 109,186,922 (GRCm39) |
S330P |
probably damaging |
Het |
| Exoc2 |
C |
T |
13: 31,066,255 (GRCm39) |
V474I |
probably benign |
Het |
| Foxn2 |
T |
C |
17: 88,794,311 (GRCm39) |
I416T |
possibly damaging |
Het |
| Gm3676 |
T |
A |
14: 41,365,233 (GRCm39) |
I141L |
probably benign |
Het |
| Gm4131 |
A |
G |
14: 62,718,538 (GRCm39) |
Y23H |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdac2 |
T |
C |
10: 36,865,232 (GRCm39) |
S149P |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Igsf9b |
A |
T |
9: 27,245,418 (GRCm39) |
R1128S |
probably benign |
Het |
| Invs |
A |
G |
4: 48,392,668 (GRCm39) |
H294R |
probably damaging |
Het |
| Kansl3 |
G |
A |
1: 36,382,876 (GRCm39) |
S812F |
probably damaging |
Het |
| Katnbl1 |
T |
C |
2: 112,239,538 (GRCm39) |
S246P |
probably benign |
Het |
| Kcnt1 |
A |
T |
2: 25,791,358 (GRCm39) |
H567L |
probably benign |
Het |
| Krt33a |
A |
G |
11: 99,902,765 (GRCm39) |
I353T |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,078,683 (GRCm39) |
R639S |
possibly damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,507,116 (GRCm39) |
H1617Q |
unknown |
Het |
| Mcoln2 |
A |
T |
3: 145,881,299 (GRCm39) |
|
probably null |
Het |
| Myo15a |
A |
G |
11: 60,395,978 (GRCm39) |
T1438A |
|
Het |
| Myocd |
A |
G |
11: 65,109,429 (GRCm39) |
L114P |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,584 (GRCm39) |
N777S |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,141 (GRCm39) |
M1L |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,503 (GRCm39) |
E29G |
probably damaging |
Het |
| Plekhn1 |
G |
A |
4: 156,309,277 (GRCm39) |
P210S |
probably benign |
Het |
| Por |
G |
T |
5: 135,758,358 (GRCm39) |
A112S |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,304,221 (GRCm39) |
F651S |
probably damaging |
Het |
| Rnf148 |
A |
C |
6: 23,654,979 (GRCm39) |
S6A |
probably benign |
Het |
| Selenoi |
A |
G |
5: 30,471,926 (GRCm39) |
I376V |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 113,034,243 (GRCm39) |
|
probably null |
Het |
| Tdrd6 |
T |
C |
17: 43,938,817 (GRCm39) |
T744A |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,172,509 (GRCm39) |
T1918S |
possibly damaging |
Het |
| Ttc28 |
C |
A |
5: 111,371,995 (GRCm39) |
L846M |
probably damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,933,832 (GRCm39) |
V193D |
possibly damaging |
Het |
| Umodl1 |
T |
A |
17: 31,207,031 (GRCm39) |
C807* |
probably null |
Het |
| Upf2 |
T |
A |
2: 5,978,347 (GRCm39) |
S404T |
unknown |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,743,467 (GRCm39) |
S490T |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,344,842 (GRCm39) |
I2361T |
probably benign |
Het |
|
| Other mutations in Gbp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00576:Gbp8
|
APN |
5 |
105,165,754 (GRCm39) |
splice site |
probably benign |
|
|
IGL00775:Gbp8
|
APN |
5 |
105,165,711 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00788:Gbp8
|
APN |
5 |
105,198,863 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01289:Gbp8
|
APN |
5 |
105,165,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01634:Gbp8
|
APN |
5 |
105,166,438 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03392:Gbp8
|
APN |
5 |
105,164,410 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4458001:Gbp8
|
UTSW |
5 |
105,162,955 (GRCm39) |
missense |
probably benign |
|
|
R0180:Gbp8
|
UTSW |
5 |
105,179,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Gbp8
|
UTSW |
5 |
105,165,541 (GRCm39) |
splice site |
probably null |
|
|
R1370:Gbp8
|
UTSW |
5 |
105,164,442 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1772:Gbp8
|
UTSW |
5 |
105,163,987 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2261:Gbp8
|
UTSW |
5 |
105,163,999 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2262:Gbp8
|
UTSW |
5 |
105,163,999 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4050:Gbp8
|
UTSW |
5 |
105,179,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Gbp8
|
UTSW |
5 |
105,198,928 (GRCm39) |
unclassified |
probably benign |
|
|
R4649:Gbp8
|
UTSW |
5 |
105,189,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Gbp8
|
UTSW |
5 |
105,178,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5228:Gbp8
|
UTSW |
5 |
105,164,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5259:Gbp8
|
UTSW |
5 |
105,198,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5543:Gbp8
|
UTSW |
5 |
105,165,696 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5696:Gbp8
|
UTSW |
5 |
105,166,682 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6352:Gbp8
|
UTSW |
5 |
105,162,926 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6767:Gbp8
|
UTSW |
5 |
105,166,478 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6847:Gbp8
|
UTSW |
5 |
105,179,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7127:Gbp8
|
UTSW |
5 |
105,165,578 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7188:Gbp8
|
UTSW |
5 |
105,164,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7402:Gbp8
|
UTSW |
5 |
105,179,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Gbp8
|
UTSW |
5 |
105,178,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Gbp8
|
UTSW |
5 |
105,179,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Gbp8
|
UTSW |
5 |
105,198,783 (GRCm39) |
nonsense |
probably null |
|
|
R8146:Gbp8
|
UTSW |
5 |
105,178,844 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8205:Gbp8
|
UTSW |
5 |
105,198,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8230:Gbp8
|
UTSW |
5 |
105,198,735 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8425:Gbp8
|
UTSW |
5 |
105,165,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Gbp8
|
UTSW |
5 |
105,166,668 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9062:Gbp8
|
UTSW |
5 |
105,179,124 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9169:Gbp8
|
UTSW |
5 |
105,179,155 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9193:Gbp8
|
UTSW |
5 |
105,179,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Gbp8
|
UTSW |
5 |
105,198,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGCATTCTCCAGGTAC -3'
(R):5'- CCATCAGCCATGATTCCCTG -3'
Sequencing Primer
(F):5'- AGGTACTCATCACTTGTGATGTC -3'
(R):5'- CCTGGAGAAACTACAGTATCCTTCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation