Incidental Mutation 'R6546:Garin5b'
| ID |
521196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin5b
|
| Ensembl Gene |
ENSMUSG00000092518 |
| Gene Name |
golgi associated RAB2 interactor family member 5B |
| Synonyms |
Fam71e2, 4930401F20Rik |
| MMRRC Submission |
045325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4756225-4774301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4761464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 416
(D416G)
|
| 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: D416G
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: D416G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,776,234 (GRCm39) |
L242M |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,040,949 (GRCm39) |
H206L |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,937 (GRCm39) |
Q1120R |
probably benign |
Het |
| Cdk18 |
G |
A |
1: 132,050,088 (GRCm39) |
T29I |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,185 (GRCm39) |
I208F |
probably damaging |
Het |
| Dhrs1 |
G |
A |
14: 55,978,729 (GRCm39) |
P140S |
possibly damaging |
Het |
| Dnah14 |
C |
T |
1: 181,566,552 (GRCm39) |
R2775C |
probably damaging |
Het |
| Fnip1 |
T |
G |
11: 54,393,437 (GRCm39) |
N600K |
probably benign |
Het |
| Jmjd6 |
T |
C |
11: 116,733,326 (GRCm39) |
Y117C |
probably damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,739,635 (GRCm39) |
V340E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,871 (GRCm39) |
V1995A |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,278,221 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,074 (GRCm39) |
D3022G |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,740,527 (GRCm39) |
T618I |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,843,379 (GRCm39) |
V302M |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,859,539 (GRCm39) |
F242S |
probably damaging |
Het |
| Npffr2 |
A |
T |
5: 89,730,871 (GRCm39) |
K267M |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,460,672 (GRCm39) |
|
probably null |
Het |
| Papss2 |
A |
G |
19: 32,640,548 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Ppil4 |
T |
A |
10: 7,674,186 (GRCm39) |
I110N |
probably damaging |
Het |
| Qrfpr |
G |
A |
3: 36,234,414 (GRCm39) |
T309I |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,796,998 (GRCm39) |
S65R |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,817 (GRCm39) |
H44Y |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,004,081 (GRCm39) |
T7A |
probably benign |
Het |
| St7 |
C |
T |
6: 17,852,313 (GRCm39) |
A233V |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,258,059 (GRCm39) |
S546T |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,168,645 (GRCm39) |
Y5245* |
probably null |
Het |
| Trmt6 |
A |
G |
2: 132,654,073 (GRCm39) |
W52R |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,141,705 (GRCm39) |
V1264M |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,970,960 (GRCm39) |
V1004D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,369 (GRCm39) |
H587L |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,652,741 (GRCm39) |
R478G |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
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 |
|
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 |
|
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'- TAACTTGGGGCTTCAAGGGC -3'
(R):5'- GCACAAAACCTTGAAGATCTCATG -3'
Sequencing Primer
(F):5'- CTGCCCAGGGGTGGTTG -3'
(R):5'- TGAATCCTGAATATGCCACACTGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation