Incidental Mutation 'R4259:Garin1b'
| ID |
322558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin1b
|
| Ensembl Gene |
ENSMUSG00000039742 |
| Gene Name |
golgi associated RAB2 interactor 1B |
| Synonyms |
LOC330277, Fam71f1 |
| MMRRC Submission |
041072-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4259 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29319139-29336018 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 29320800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 141
(I141M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090487]
[ENSMUST00000163229]
[ENSMUST00000164560]
[ENSMUST00000166462]
|
| AlphaFold |
Q3UZD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090487
AA Change: I141M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087973
Gene: ENSMUSG00000039742
AA Change: I141M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
136 |
210 |
5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163229
|
| SMART Domains |
Protein: ENSMUSP00000132402
Gene: ENSMUSG00000039742
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164560
AA Change: I141M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126496
Gene: ENSMUSG00000039742
AA Change: I141M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
137 |
208 |
7e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166462
AA Change: I141M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132703
Gene: ENSMUSG00000039742
AA Change: I141M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
136 |
210 |
3.1e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171782
|
| Meta Mutation Damage Score |
0.2540 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Cd248 |
A |
G |
19: 5,118,866 (GRCm39) |
D238G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,462,807 (GRCm39) |
G230S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Gpr171 |
A |
G |
3: 59,004,948 (GRCm39) |
S276P |
probably damaging |
Het |
| Hap1 |
C |
A |
11: 100,242,668 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
A |
T |
13: 118,111,884 (GRCm39) |
K616M |
unknown |
Het |
| Igkv4-90 |
T |
C |
6: 68,784,461 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,325,298 (GRCm39) |
V1297E |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,280,506 (GRCm39) |
N1319D |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,692 (GRCm39) |
E418G |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,059,413 (GRCm39) |
S599P |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,980,512 (GRCm39) |
Y223N |
probably damaging |
Het |
| Or5p57 |
T |
A |
7: 107,665,100 (GRCm39) |
K272* |
probably null |
Het |
| Or8g50 |
A |
T |
9: 39,648,999 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,931,970 (GRCm39) |
D38G |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
| Prl3b1 |
T |
C |
13: 27,427,889 (GRCm39) |
|
probably null |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Slc26a1 |
T |
A |
5: 108,820,496 (GRCm39) |
K250N |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 55,925,867 (GRCm39) |
S1093P |
probably damaging |
Het |
|
| Other mutations in Garin1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Garin1b
|
APN |
6 |
29,320,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02342:Garin1b
|
APN |
6 |
29,323,829 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0402:Garin1b
|
UTSW |
6 |
29,323,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0467:Garin1b
|
UTSW |
6 |
29,326,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Garin1b
|
UTSW |
6 |
29,326,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1773:Garin1b
|
UTSW |
6 |
29,334,152 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1950:Garin1b
|
UTSW |
6 |
29,335,815 (GRCm39) |
splice site |
probably null |
|
|
R4305:Garin1b
|
UTSW |
6 |
29,326,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Garin1b
|
UTSW |
6 |
29,320,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Garin1b
|
UTSW |
6 |
29,323,764 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5014:Garin1b
|
UTSW |
6 |
29,326,723 (GRCm39) |
intron |
probably benign |
|
|
R5249:Garin1b
|
UTSW |
6 |
29,323,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Garin1b
|
UTSW |
6 |
29,319,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6212:Garin1b
|
UTSW |
6 |
29,319,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6456:Garin1b
|
UTSW |
6 |
29,334,045 (GRCm39) |
missense |
probably benign |
|
|
R6949:Garin1b
|
UTSW |
6 |
29,323,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7047:Garin1b
|
UTSW |
6 |
29,323,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7562:Garin1b
|
UTSW |
6 |
29,323,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8346:Garin1b
|
UTSW |
6 |
29,334,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Garin1b
|
UTSW |
6 |
29,323,902 (GRCm39) |
missense |
probably benign |
0.27 |
|
X0065:Garin1b
|
UTSW |
6 |
29,326,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATTGCAGGTCAGAAGG -3'
(R):5'- CTCAGGTTACTGCGGTCTAGAG -3'
Sequencing Primer
(F):5'- CATTGCAGGTCAGAAGGAGCAG -3'
(R):5'- AGGCCAGCCTTTACTGCATAATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation