Incidental Mutation 'IGL01938:2310003L06Rik'
| ID |
180749 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
2310003L06Rik
|
| Ensembl Gene |
ENSMUSG00000007457 |
| Gene Name |
RIKEN cDNA 2310003L06 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL01938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
88117318-88120729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88119567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 108
(T108I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007601]
[ENSMUST00000187738]
|
| AlphaFold |
Q9CV82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007601
AA Change: T108I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: T108I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190123
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
| Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,483 (GRCm39) |
V457A |
probably benign |
Het |
| Flii |
T |
C |
11: 60,605,942 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,858,714 (GRCm39) |
Y286C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nipsnap1 |
C |
T |
11: 4,843,134 (GRCm39) |
H269Y |
probably benign |
Het |
| Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
| Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
| Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,547,600 (GRCm39) |
S24P |
possibly damaging |
Het |
| Smyd2 |
A |
G |
1: 189,621,079 (GRCm39) |
V213A |
probably benign |
Het |
| Sult1c2 |
C |
T |
17: 54,138,954 (GRCm39) |
V208M |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
probably benign |
Het |
|
| Other mutations in 2310003L06Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:2310003L06Rik
|
APN |
5 |
88,120,649 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03032:2310003L06Rik
|
APN |
5 |
88,119,774 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
D3080:2310003L06Rik
|
UTSW |
5 |
88,119,846 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
G1Funyon:2310003L06Rik
|
UTSW |
5 |
88,120,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02984:2310003L06Rik
|
UTSW |
5 |
88,120,662 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4243001:2310003L06Rik
|
UTSW |
5 |
88,119,999 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0359:2310003L06Rik
|
UTSW |
5 |
88,112,455 (GRCm39) |
unclassified |
probably benign |
|
|
R0676:2310003L06Rik
|
UTSW |
5 |
88,112,516 (GRCm39) |
unclassified |
probably benign |
|
|
R1524:2310003L06Rik
|
UTSW |
5 |
88,119,548 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1536:2310003L06Rik
|
UTSW |
5 |
88,118,524 (GRCm39) |
missense |
probably benign |
|
|
R1998:2310003L06Rik
|
UTSW |
5 |
88,118,553 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2080:2310003L06Rik
|
UTSW |
5 |
88,119,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:2310003L06Rik
|
UTSW |
5 |
88,112,335 (GRCm39) |
unclassified |
probably benign |
|
|
R2177:2310003L06Rik
|
UTSW |
5 |
88,120,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2399:2310003L06Rik
|
UTSW |
5 |
88,120,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3748:2310003L06Rik
|
UTSW |
5 |
88,112,422 (GRCm39) |
unclassified |
probably benign |
|
|
R4010:2310003L06Rik
|
UTSW |
5 |
88,120,136 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4096:2310003L06Rik
|
UTSW |
5 |
88,120,008 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4656:2310003L06Rik
|
UTSW |
5 |
88,112,534 (GRCm39) |
unclassified |
probably benign |
|
|
R4823:2310003L06Rik
|
UTSW |
5 |
88,120,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5753:2310003L06Rik
|
UTSW |
5 |
88,120,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6087:2310003L06Rik
|
UTSW |
5 |
88,119,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6931:2310003L06Rik
|
UTSW |
5 |
88,118,561 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7032:2310003L06Rik
|
UTSW |
5 |
88,120,438 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7703:2310003L06Rik
|
UTSW |
5 |
88,120,671 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7912:2310003L06Rik
|
UTSW |
5 |
88,120,451 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8185:2310003L06Rik
|
UTSW |
5 |
88,120,011 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8301:2310003L06Rik
|
UTSW |
5 |
88,120,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9010:2310003L06Rik
|
UTSW |
5 |
88,119,504 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9179:2310003L06Rik
|
UTSW |
5 |
88,119,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9225:2310003L06Rik
|
UTSW |
5 |
88,120,433 (GRCm39) |
missense |
probably benign |
|
|
R9226:2310003L06Rik
|
UTSW |
5 |
88,118,518 (GRCm39) |
start codon destroyed |
probably benign |
0.14 |
|
R9309:2310003L06Rik
|
UTSW |
5 |
88,120,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9373:2310003L06Rik
|
UTSW |
5 |
88,120,668 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9431:2310003L06Rik
|
UTSW |
5 |
88,120,325 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1088:2310003L06Rik
|
UTSW |
5 |
88,120,165 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-05-07 |
Incidental Mutation