Incidental Mutation 'IGL02984:2310003L06Rik'
| ID |
453264 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02984 (G1)
|
| Quality Score |
149 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
88117318-88120729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88120662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 473
(I473N)
|
| 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: I473N
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: I473N
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
| Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
| Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
| Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
| Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
| Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
| Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
| Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
probably damaging |
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 |
|
IGL01938:2310003L06Rik
|
APN |
5 |
88,119,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTACTAAAGACAATGTAGAACC -3'
(R):5'- CAGGCAGCAATTATGGAAGCC -3'
Sequencing Primer
(F):5'- GGTAATACTGCAGTCCCTACATCTAG -3'
(R):5'- CAGCAATTATGGAAGCCAAGTC -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation