Incidental Mutation 'R5037:Garin5b'
| ID |
389569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin5b
|
| Ensembl Gene |
ENSMUSG00000092518 |
| Gene Name |
golgi associated RAB2 interactor family member 5B |
| Synonyms |
Fam71e2, 4930401F20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4756225-4774301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 4761575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 379
(K379T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163574]
[ENSMUST00000174409]
|
| AlphaFold |
L7N480 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108580
AA Change: K379T
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: K379T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
99 |
172 |
6.5e-23 |
PFAM |
|
low complexity region
|
282 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163574
|
| SMART Domains |
Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174409
AA Change: K379T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: K379T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
93 |
168 |
5.8e-24 |
PFAM |
|
low complexity region
|
277 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btaf1 |
T |
C |
19: 36,980,931 (GRCm39) |
V1584A |
probably damaging |
Het |
| Ccdc136 |
A |
T |
6: 29,417,122 (GRCm39) |
S648C |
probably damaging |
Het |
| Ccna2 |
A |
G |
3: 36,625,152 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cenpf |
T |
C |
1: 189,416,043 (GRCm39) |
E94G |
probably damaging |
Het |
| Clic1 |
G |
A |
17: 35,274,235 (GRCm39) |
V139I |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,975,648 (GRCm39) |
E327G |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,805,337 (GRCm39) |
E1190K |
unknown |
Het |
| Cyp2c70 |
A |
G |
19: 40,172,441 (GRCm39) |
V67A |
possibly damaging |
Het |
| Dglucy |
A |
G |
12: 100,801,500 (GRCm39) |
S52G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,607,341 (GRCm39) |
N2644S |
probably benign |
Het |
| Eif4g2 |
A |
T |
7: 110,676,239 (GRCm39) |
N347K |
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,809,178 (GRCm39) |
|
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,218 (GRCm39) |
F64L |
probably benign |
Het |
| Eri2 |
G |
A |
7: 119,384,897 (GRCm39) |
L535F |
probably benign |
Het |
| Gm17430 |
T |
C |
18: 9,726,561 (GRCm39) |
E37G |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,131,939 (GRCm39) |
Q388L |
probably benign |
Het |
| Htr1f |
A |
G |
16: 64,746,291 (GRCm39) |
W334R |
probably damaging |
Het |
| Icam4 |
A |
T |
9: 20,940,937 (GRCm39) |
C717* |
probably null |
Het |
| Iqgap1 |
A |
C |
7: 80,383,848 (GRCm39) |
L1072W |
probably damaging |
Het |
| Kbtbd11 |
G |
T |
8: 15,077,886 (GRCm39) |
A162S |
probably benign |
Het |
| Kif13b |
T |
G |
14: 64,996,038 (GRCm39) |
Y941* |
probably null |
Het |
| Kndc1 |
T |
C |
7: 139,490,371 (GRCm39) |
V291A |
possibly damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,503,594 (GRCm39) |
I241N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,349,312 (GRCm39) |
S2387P |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,251,369 (GRCm39) |
L451S |
possibly damaging |
Het |
| Mthfd1 |
T |
G |
12: 76,340,914 (GRCm39) |
F258V |
probably damaging |
Het |
| Ncstn |
C |
T |
1: 171,896,193 (GRCm39) |
R495H |
probably damaging |
Het |
| Or4k2 |
T |
G |
14: 50,423,745 (GRCm39) |
T310P |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,392,268 (GRCm39) |
I1954N |
probably damaging |
Het |
| Ppox |
C |
A |
1: 171,105,169 (GRCm39) |
V340L |
probably damaging |
Het |
| Prkag1 |
T |
C |
15: 98,713,768 (GRCm39) |
T21A |
possibly damaging |
Het |
| Pygo1 |
C |
A |
9: 72,852,199 (GRCm39) |
H129N |
probably damaging |
Het |
| Rad9a |
A |
T |
19: 4,247,173 (GRCm39) |
C271S |
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,535,381 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,153,510 (GRCm39) |
F2265L |
probably damaging |
Het |
| Shc4 |
A |
G |
2: 125,471,647 (GRCm39) |
I304T |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,116,011 (GRCm39) |
L313M |
probably damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,972,195 (GRCm39) |
H509Q |
probably benign |
Het |
| Spef1l |
A |
T |
7: 139,558,587 (GRCm39) |
S3R |
possibly damaging |
Het |
| Sycp2l |
T |
A |
13: 41,283,337 (GRCm39) |
M191K |
possibly damaging |
Het |
| Tmem132c |
C |
A |
5: 127,630,199 (GRCm39) |
Q579K |
probably benign |
Het |
| Trbj2-5 |
A |
G |
6: 41,520,394 (GRCm39) |
|
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,728,741 (GRCm39) |
E231G |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,611,192 (GRCm39) |
V1375A |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,852,096 (GRCm39) |
T955S |
probably damaging |
Het |
| Vmn1r89 |
T |
C |
7: 12,953,314 (GRCm39) |
C17R |
possibly damaging |
Het |
| Wnk1 |
A |
G |
6: 119,942,696 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
T |
G |
7: 6,308,949 (GRCm39) |
I539S |
possibly damaging |
Het |
| Zfp738 |
T |
A |
13: 67,818,320 (GRCm39) |
H557L |
probably damaging |
Het |
|
| Other mutations in Garin5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Garin5b
|
APN |
7 |
4,760,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01622:Garin5b
|
APN |
7 |
4,761,722 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01623:Garin5b
|
APN |
7 |
4,761,722 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01944:Garin5b
|
APN |
7 |
4,773,694 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03013:Garin5b
|
APN |
7 |
4,761,632 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03029:Garin5b
|
APN |
7 |
4,760,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0153:Garin5b
|
UTSW |
7 |
4,773,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0523:Garin5b
|
UTSW |
7 |
4,762,392 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0981:Garin5b
|
UTSW |
7 |
4,760,588 (GRCm39) |
splice site |
probably null |
|
|
R1428:Garin5b
|
UTSW |
7 |
4,760,687 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1736:Garin5b
|
UTSW |
7 |
4,761,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1993:Garin5b
|
UTSW |
7 |
4,761,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Garin5b
|
UTSW |
7 |
4,762,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Garin5b
|
UTSW |
7 |
4,774,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2270:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2271:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2272:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4288:Garin5b
|
UTSW |
7 |
4,773,722 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4653:Garin5b
|
UTSW |
7 |
4,761,054 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4812:Garin5b
|
UTSW |
7 |
4,762,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Garin5b
|
UTSW |
7 |
4,760,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4860:Garin5b
|
UTSW |
7 |
4,760,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5044:Garin5b
|
UTSW |
7 |
4,761,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5491:Garin5b
|
UTSW |
7 |
4,760,925 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5559:Garin5b
|
UTSW |
7 |
4,761,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Garin5b
|
UTSW |
7 |
4,773,385 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6025:Garin5b
|
UTSW |
7 |
4,761,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6038:Garin5b
|
UTSW |
7 |
4,756,594 (GRCm39) |
splice site |
probably null |
|
|
R6038:Garin5b
|
UTSW |
7 |
4,756,594 (GRCm39) |
splice site |
probably null |
|
|
R6164:Garin5b
|
UTSW |
7 |
4,773,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6371:Garin5b
|
UTSW |
7 |
4,762,358 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6470:Garin5b
|
UTSW |
7 |
4,760,850 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6546:Garin5b
|
UTSW |
7 |
4,761,464 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6603:Garin5b
|
UTSW |
7 |
4,761,431 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7037:Garin5b
|
UTSW |
7 |
4,761,584 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7381:Garin5b
|
UTSW |
7 |
4,760,681 (GRCm39) |
missense |
|
|
|
R8743:Garin5b
|
UTSW |
7 |
4,760,814 (GRCm39) |
missense |
|
|
|
R9066:Garin5b
|
UTSW |
7 |
4,773,518 (GRCm39) |
intron |
probably benign |
|
|
R9072:Garin5b
|
UTSW |
7 |
4,762,253 (GRCm39) |
missense |
|
|
|
R9138:Garin5b
|
UTSW |
7 |
4,773,406 (GRCm39) |
missense |
|
|
|
R9352:Garin5b
|
UTSW |
7 |
4,761,605 (GRCm39) |
missense |
|
|
|
R9373:Garin5b
|
UTSW |
7 |
4,760,712 (GRCm39) |
missense |
|
|
|
R9462:Garin5b
|
UTSW |
7 |
4,761,330 (GRCm39) |
missense |
|
|
|
Z1177:Garin5b
|
UTSW |
7 |
4,760,727 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGCACCTGAAGCCTTCC -3'
(R):5'- TCAGAACAGCACTGGTTTTCCTG -3'
Sequencing Primer
(F):5'- TCTTGACCACAGTGCAGTCG -3'
(R):5'- GTCACGGTTTCCTCTAATCAACTGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation