Incidental Mutation 'R6371:Garin5b'
ID |
513518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garin5b
|
Ensembl Gene |
ENSMUSG00000092518 |
Gene Name |
golgi associated RAB2 interactor family member 5B |
Synonyms |
Fam71e2, 4930401F20Rik |
MMRRC Submission |
044521-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R6371 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4756225-4774301 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4762358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 257
(V257A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163574]
[ENSMUST00000174409]
|
AlphaFold |
L7N480 |
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 |
probably benign
Transcript: ENSMUST00000174409
AA Change: V257A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000133885 Gene: ENSMUSG00000092518 AA Change: V257A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
C |
T |
12: 113,453,894 (GRCm39) |
S237L |
probably damaging |
Het |
Ank3 |
T |
G |
10: 69,644,709 (GRCm39) |
L58V |
probably damaging |
Het |
Arsb |
A |
T |
13: 93,926,574 (GRCm39) |
I115F |
possibly damaging |
Het |
Atad2b |
T |
C |
12: 5,023,970 (GRCm39) |
Y32H |
probably damaging |
Het |
Brd1 |
A |
C |
15: 88,598,201 (GRCm39) |
M515R |
probably benign |
Het |
Cbx7 |
A |
G |
15: 79,803,023 (GRCm39) |
S30P |
possibly damaging |
Het |
Cdk12 |
A |
G |
11: 98,136,114 (GRCm39) |
T1123A |
unknown |
Het |
Cep170b |
A |
G |
12: 112,707,379 (GRCm39) |
D375G |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,390,369 (GRCm39) |
K164E |
probably benign |
Het |
Clip4 |
A |
C |
17: 72,163,459 (GRCm39) |
K677T |
probably damaging |
Het |
Clrn2 |
T |
C |
5: 45,617,540 (GRCm39) |
I137T |
possibly damaging |
Het |
Cntln |
T |
C |
4: 84,802,816 (GRCm39) |
S39P |
probably damaging |
Het |
Crocc2 |
T |
A |
1: 93,143,353 (GRCm39) |
N1318K |
probably benign |
Het |
Emc1 |
C |
T |
4: 139,098,976 (GRCm39) |
Q820* |
probably null |
Het |
Fbxl2 |
G |
A |
9: 113,818,451 (GRCm39) |
T170I |
probably damaging |
Het |
Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,269,006 (GRCm39) |
Y2213H |
probably damaging |
Het |
Ifnar2 |
T |
C |
16: 91,184,986 (GRCm39) |
Y24H |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
Itgb2 |
C |
A |
10: 77,384,431 (GRCm39) |
P184H |
probably damaging |
Het |
Kcnb2 |
T |
A |
1: 15,781,436 (GRCm39) |
D769E |
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,741,666 (GRCm39) |
M3087T |
possibly damaging |
Het |
Ltbp3 |
A |
G |
19: 5,795,800 (GRCm39) |
|
probably null |
Het |
Ms4a6b |
A |
G |
19: 11,497,728 (GRCm39) |
E9G |
probably damaging |
Het |
Nat3 |
G |
A |
8: 67,976,831 (GRCm39) |
|
probably null |
Het |
Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
Nop58 |
T |
G |
1: 59,750,471 (GRCm39) |
|
probably benign |
Het |
Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
Or8s16 |
A |
G |
15: 98,211,219 (GRCm39) |
Y71H |
possibly damaging |
Het |
P3h4 |
C |
T |
11: 100,302,575 (GRCm39) |
E354K |
probably benign |
Het |
Plekhm2 |
T |
G |
4: 141,356,843 (GRCm39) |
T787P |
possibly damaging |
Het |
Ppia |
C |
T |
11: 6,368,230 (GRCm39) |
T37I |
probably benign |
Het |
Reln |
T |
A |
5: 22,200,511 (GRCm39) |
M1330L |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,539,426 (GRCm39) |
E53G |
probably benign |
Het |
Sgip1 |
T |
A |
4: 102,823,482 (GRCm39) |
V721E |
probably damaging |
Het |
Slc33a1 |
A |
T |
3: 63,850,709 (GRCm39) |
D538E |
probably benign |
Het |
Son |
T |
C |
16: 91,471,629 (GRCm39) |
|
|
Het |
Srebf1 |
A |
T |
11: 60,094,341 (GRCm39) |
S591R |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Taok2 |
G |
A |
7: 126,469,319 (GRCm39) |
R1170W |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,845,688 (GRCm39) |
V210E |
probably benign |
Het |
Ttc6 |
T |
A |
12: 57,775,249 (GRCm39) |
N1648K |
possibly damaging |
Het |
Vgll3 |
C |
T |
16: 65,636,131 (GRCm39) |
P94L |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,349,362 (GRCm39) |
V740E |
probably damaging |
Het |
Yeats2 |
A |
G |
16: 20,040,460 (GRCm39) |
E1127G |
possibly damaging |
Het |
Zfp709 |
T |
A |
8: 72,643,329 (GRCm39) |
Y252N |
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 |
|
R5037:Garin5b
|
UTSW |
7 |
4,761,575 (GRCm39) |
missense |
possibly damaging |
0.64 |
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 |
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'- CAGGTTCATGTAGGTGGCAG -3'
(R):5'- CCAAGGTGAAGTAGTCAGTGTG -3'
Sequencing Primer
(F):5'- CAGAGGGTGGGTATTGCTCATAC -3'
(R):5'- AGATTCAAGTGTGTGAAAGTATGTG -3'
|
Posted On |
2018-04-27 |