Incidental Mutation 'R9066:Garin5b'
| ID |
713506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin5b
|
| Ensembl Gene |
ENSMUSG00000092518 |
| Gene Name |
golgi associated RAB2 interactor family member 5B |
| Synonyms |
Fam71e2, 4930401F20Rik |
| MMRRC Submission |
068891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R9066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4756225-4774301 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 4773518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094892]
[ENSMUST00000163481]
[ENSMUST00000163574]
[ENSMUST00000174409]
|
| AlphaFold |
L7N480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094892
|
| SMART Domains |
Protein: ENSMUSP00000092492
Gene: ENSMUSG00000004371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL11
|
1 |
199 |
1.3e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163481
|
| SMART Domains |
Protein: ENSMUSP00000131168
Gene: ENSMUSG00000004371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL11
|
1 |
140 |
2.1e-90 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518
AA Change: Y108C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174409
|
| SMART Domains |
Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,849,188 (GRCm39) |
T1858A |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,489,338 (GRCm39) |
I758T |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,330,845 (GRCm39) |
E225G |
probably damaging |
Het |
| Clec7a |
A |
C |
6: 129,444,491 (GRCm39) |
S115A |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 19,098,181 (GRCm39) |
T80A |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,326,019 (GRCm39) |
H226R |
possibly damaging |
Het |
| Dctn4 |
T |
C |
18: 60,659,387 (GRCm39) |
F29L |
probably damaging |
Het |
| Dnajb2 |
A |
G |
1: 75,217,874 (GRCm39) |
T169A |
|
Het |
| Efcab3 |
T |
A |
11: 104,631,688 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
A |
T |
2: 139,990,693 (GRCm39) |
M597K |
probably benign |
Het |
| Fzd7 |
C |
T |
1: 59,521,991 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
C |
A |
2: 34,617,297 (GRCm39) |
Q349H |
probably damaging |
Het |
| Gata5 |
A |
G |
2: 179,968,761 (GRCm39) |
F371S |
|
Het |
| Gm572 |
A |
T |
4: 148,751,278 (GRCm39) |
Q217L |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,219 (GRCm39) |
M26K |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,675,638 (GRCm39) |
M1L |
probably benign |
Het |
| Kcnj14 |
G |
A |
7: 45,469,073 (GRCm39) |
T144M |
probably damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,153,454 (GRCm39) |
A302S |
probably damaging |
Het |
| Klhl29 |
C |
T |
12: 5,260,114 (GRCm39) |
V35I |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lgi4 |
A |
C |
7: 30,759,446 (GRCm39) |
M1L |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,347,552 (GRCm39) |
D276G |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,825,782 (GRCm39) |
M619K |
probably benign |
Het |
| Nudcd1 |
A |
T |
15: 44,243,588 (GRCm39) |
F441I |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,253 (GRCm39) |
Y125* |
probably null |
Het |
| Or8b12 |
T |
G |
9: 37,657,871 (GRCm39) |
V147G |
possibly damaging |
Het |
| Pop1 |
A |
T |
15: 34,516,060 (GRCm39) |
Q586L |
possibly damaging |
Het |
| Prss3b |
C |
T |
6: 41,008,640 (GRCm39) |
G225R |
probably benign |
Het |
| Rcbtb1 |
T |
G |
14: 59,462,206 (GRCm39) |
I279S |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Serpine3 |
A |
G |
14: 62,929,555 (GRCm39) |
D401G |
probably damaging |
Het |
| Slc25a4 |
A |
G |
8: 46,662,115 (GRCm39) |
V181A |
probably damaging |
Het |
| Slc26a2 |
T |
G |
18: 61,335,130 (GRCm39) |
I108L |
probably benign |
Het |
| Slc27a5 |
A |
C |
7: 12,722,530 (GRCm39) |
V648G |
possibly damaging |
Het |
| Slc2a7 |
T |
C |
4: 150,250,872 (GRCm39) |
F431S |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,422 (GRCm39) |
H329R |
possibly damaging |
Het |
| Speg |
G |
A |
1: 75,361,654 (GRCm39) |
G223R |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,911,133 (GRCm39) |
H171Y |
possibly damaging |
Het |
| Tle6 |
G |
T |
10: 81,430,212 (GRCm39) |
N323K |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,367,384 (GRCm39) |
M376L |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,957,561 (GRCm39) |
K798R |
probably benign |
Het |
| Vasp |
A |
T |
7: 18,998,433 (GRCm39) |
H80Q |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,596 (GRCm39) |
D217G |
probably damaging |
Het |
| Vps41 |
T |
C |
13: 19,008,018 (GRCm39) |
S284P |
probably damaging |
Het |
| Zer1 |
A |
C |
2: 30,000,686 (GRCm39) |
L245R |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,973,964 (GRCm39) |
R54L |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,292 (GRCm39) |
K348E |
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 |
|
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 |
|
|
|
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'- AATTTAGGCCCTCGAAGCATG -3'
(R):5'- AATGGGACTCCTGCGTTATTAC -3'
Sequencing Primer
(F):5'- CCCTCGAAGCATGTTGATGAG -3'
(R):5'- GGGACTCCTGCGTTATTACACAAC -3'
|
| Posted On |
2022-05-25 |
Incidental Mutation