Incidental Mutation 'IGL02984:A530064D06Rik'
| ID |
453287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A530064D06Rik
|
| Ensembl Gene |
ENSMUSG00000043939 |
| Gene Name |
RIKEN cDNA A530064D06 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02984 (G1)
|
| Quality Score |
149 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48459064-48474425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48470448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 178
(I178V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027764]
[ENSMUST00000053612]
|
| AlphaFold |
Q8BNV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027764
|
| SMART Domains |
Protein: ENSMUSP00000027764
Gene: ENSMUSG00000043939
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
IG
|
26 |
122 |
1.56e-5 |
SMART |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053612
AA Change: I178V
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000055935
Gene: ENSMUSG00000043939
AA Change: I178V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
IG
|
26 |
122 |
1.56e-5 |
SMART |
|
low complexity region
|
147 |
166 |
N/A |
INTRINSIC |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| 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 |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
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 A530064D06Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01377:A530064D06Rik
|
APN |
17 |
48,460,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01761:A530064D06Rik
|
APN |
17 |
48,460,127 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02001:A530064D06Rik
|
APN |
17 |
48,473,842 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02995:A530064D06Rik
|
APN |
17 |
48,470,456 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03109:A530064D06Rik
|
APN |
17 |
48,473,628 (GRCm39) |
missense |
probably benign |
0.13 |
|
FR4340:A530064D06Rik
|
UTSW |
17 |
48,470,549 (GRCm39) |
small deletion |
probably benign |
|
|
FR4589:A530064D06Rik
|
UTSW |
17 |
48,470,549 (GRCm39) |
small deletion |
probably benign |
|
|
R0206:A530064D06Rik
|
UTSW |
17 |
48,470,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0206:A530064D06Rik
|
UTSW |
17 |
48,470,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0660:A530064D06Rik
|
UTSW |
17 |
48,473,759 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0664:A530064D06Rik
|
UTSW |
17 |
48,473,759 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0671:A530064D06Rik
|
UTSW |
17 |
48,473,824 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1587:A530064D06Rik
|
UTSW |
17 |
48,473,585 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4087:A530064D06Rik
|
UTSW |
17 |
48,473,678 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4089:A530064D06Rik
|
UTSW |
17 |
48,473,678 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4963:A530064D06Rik
|
UTSW |
17 |
48,470,582 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5060:A530064D06Rik
|
UTSW |
17 |
48,474,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:A530064D06Rik
|
UTSW |
17 |
48,473,558 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5219:A530064D06Rik
|
UTSW |
17 |
48,470,518 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6175:A530064D06Rik
|
UTSW |
17 |
48,460,016 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6189:A530064D06Rik
|
UTSW |
17 |
48,474,222 (GRCm39) |
start gained |
probably benign |
|
|
R6420:A530064D06Rik
|
UTSW |
17 |
48,473,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6439:A530064D06Rik
|
UTSW |
17 |
48,473,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:A530064D06Rik
|
UTSW |
17 |
48,460,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:A530064D06Rik
|
UTSW |
17 |
48,473,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCTACTCTGATGTGCAAG -3'
(R):5'- AAACTTGCTTCTTGGATGGCTG -3'
Sequencing Primer
(F):5'- CTACTCTGATGTGCAAGAAAACATGG -3'
(R):5'- GGATGGCTGCTTTCATTTTCCTCAG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation