Incidental Mutation 'R2859:Garin3'
ID |
252661 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garin3
|
Ensembl Gene |
ENSMUSG00000020401 |
Gene Name |
golgi associated RAB2 interactor 3 |
Synonyms |
Fam71b, OTTMUSG00000005491 |
MMRRC Submission |
040449-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2859 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
46295555-46298812 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46296039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 137
(I137T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063166]
|
AlphaFold |
Q5STT6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063166
AA Change: I137T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000055079 Gene: ENSMUSG00000020401 AA Change: I137T
Domain | Start | End | E-Value | Type |
Pfam:DUF3699
|
120 |
192 |
1.2e-32 |
PFAM |
low complexity region
|
241 |
361 |
N/A |
INTRINSIC |
low complexity region
|
497 |
523 |
N/A |
INTRINSIC |
low complexity region
|
551 |
575 |
N/A |
INTRINSIC |
SCOP:d1g7sa3
|
586 |
650 |
1e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139280
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,500,288 (GRCm39) |
Y1301C |
possibly damaging |
Het |
Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
Cadm3 |
A |
G |
1: 173,174,112 (GRCm39) |
S34P |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
Itk |
T |
G |
11: 46,235,662 (GRCm39) |
|
probably benign |
Het |
Mastl |
C |
A |
2: 23,029,979 (GRCm39) |
C249F |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
Or1j12 |
T |
C |
2: 36,343,142 (GRCm39) |
S182P |
probably benign |
Het |
Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
Or3a1b |
T |
C |
11: 74,012,808 (GRCm39) |
I231T |
probably damaging |
Het |
Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
Parm1 |
A |
G |
5: 91,742,165 (GRCm39) |
T178A |
possibly damaging |
Het |
Patl1 |
T |
C |
19: 11,901,195 (GRCm39) |
F282L |
probably damaging |
Het |
Phospho2 |
T |
C |
2: 69,626,195 (GRCm39) |
V117A |
possibly damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,008,906 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
G |
4: 143,936,192 (GRCm39) |
S23P |
probably benign |
Het |
Rbm17 |
A |
G |
2: 11,595,515 (GRCm39) |
F230S |
possibly damaging |
Het |
Robo3 |
C |
A |
9: 37,339,400 (GRCm39) |
G196* |
probably null |
Het |
Samhd1 |
A |
G |
2: 156,948,149 (GRCm39) |
|
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Thbs4 |
A |
G |
13: 92,927,216 (GRCm39) |
F91S |
probably benign |
Het |
Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,942,495 (GRCm39) |
L255P |
probably damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,268,455 (GRCm39) |
I5F |
possibly damaging |
Het |
Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
Zswim3 |
T |
C |
2: 164,662,309 (GRCm39) |
L263P |
probably damaging |
Het |
|
Other mutations in Garin3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01647:Garin3
|
APN |
11 |
46,296,224 (GRCm39) |
nonsense |
probably null |
|
IGL02375:Garin3
|
APN |
11 |
46,297,379 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02571:Garin3
|
APN |
11 |
46,296,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R0013:Garin3
|
UTSW |
11 |
46,297,631 (GRCm39) |
missense |
unknown |
|
R1902:Garin3
|
UTSW |
11 |
46,297,838 (GRCm39) |
missense |
probably benign |
0.44 |
R1985:Garin3
|
UTSW |
11 |
46,298,693 (GRCm39) |
makesense |
probably null |
|
R2079:Garin3
|
UTSW |
11 |
46,295,934 (GRCm39) |
missense |
probably benign |
0.14 |
R2151:Garin3
|
UTSW |
11 |
46,296,158 (GRCm39) |
nonsense |
probably null |
|
R2857:Garin3
|
UTSW |
11 |
46,296,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R3807:Garin3
|
UTSW |
11 |
46,295,780 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4232:Garin3
|
UTSW |
11 |
46,298,232 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4342:Garin3
|
UTSW |
11 |
46,298,043 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4679:Garin3
|
UTSW |
11 |
46,295,640 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5119:Garin3
|
UTSW |
11 |
46,297,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R5207:Garin3
|
UTSW |
11 |
46,295,990 (GRCm39) |
missense |
probably benign |
0.13 |
R5540:Garin3
|
UTSW |
11 |
46,295,715 (GRCm39) |
missense |
probably damaging |
0.99 |
R6618:Garin3
|
UTSW |
11 |
46,298,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6862:Garin3
|
UTSW |
11 |
46,298,418 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7036:Garin3
|
UTSW |
11 |
46,298,235 (GRCm39) |
missense |
|
|
R7489:Garin3
|
UTSW |
11 |
46,298,268 (GRCm39) |
missense |
|
|
R7809:Garin3
|
UTSW |
11 |
46,298,631 (GRCm39) |
missense |
|
|
R7822:Garin3
|
UTSW |
11 |
46,295,730 (GRCm39) |
missense |
|
|
R7996:Garin3
|
UTSW |
11 |
46,295,889 (GRCm39) |
missense |
|
|
R8984:Garin3
|
UTSW |
11 |
46,295,695 (GRCm39) |
nonsense |
probably null |
|
R9324:Garin3
|
UTSW |
11 |
46,295,810 (GRCm39) |
missense |
|
|
R9532:Garin3
|
UTSW |
11 |
46,297,673 (GRCm39) |
missense |
|
|
Z1088:Garin3
|
UTSW |
11 |
46,298,550 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCACAACCGCGTCCGAATG -3'
(R):5'- TGGTGTCAACGCTTGTCTCG -3'
Sequencing Primer
(F):5'- GTGACTGTGTGCATCGCATCTAC -3'
(R):5'- AACGCTTGTCTCGCCAGTG -3'
|
Posted On |
2014-12-04 |