Incidental Mutation 'R0676:2310003L06Rik'
ID |
61648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2310003L06Rik
|
Ensembl Gene |
ENSMUSG00000007457 |
Gene Name |
RIKEN cDNA 2310003L06 gene |
Synonyms |
|
MMRRC Submission |
038861-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R0676 (G1)
|
Quality Score |
123 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
88117318-88120729 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 88112516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007601]
[ENSMUST00000187738]
|
AlphaFold |
Q9CV82 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007601
|
SMART Domains |
Protein: ENSMUSP00000007601 Gene: ENSMUSG00000007457
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069773
|
SMART Domains |
Protein: ENSMUSP00000070337 Gene: ENSMUSG00000055961
Domain | Start | End | E-Value | Type |
coiled coil region
|
39 |
145 |
N/A |
INTRINSIC |
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
low complexity region
|
265 |
295 |
N/A |
INTRINSIC |
low complexity region
|
307 |
335 |
N/A |
INTRINSIC |
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
low complexity region
|
405 |
424 |
N/A |
INTRINSIC |
low complexity region
|
439 |
449 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187738
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199477
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
Crot |
A |
C |
5: 9,043,622 (GRCm39) |
|
probably benign |
Het |
Ctnna3 |
A |
C |
10: 64,245,040 (GRCm39) |
H451P |
probably benign |
Het |
Cts6 |
C |
T |
13: 61,345,298 (GRCm39) |
|
probably benign |
Het |
Dock2 |
T |
C |
11: 34,586,063 (GRCm39) |
T540A |
probably damaging |
Het |
Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,374,169 (GRCm39) |
Y466N |
probably damaging |
Het |
Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
H4c9 |
T |
C |
13: 22,225,276 (GRCm39) |
|
probably null |
Het |
Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
Klb |
A |
T |
5: 65,536,398 (GRCm39) |
D576V |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
Lrrk1 |
C |
T |
7: 65,944,729 (GRCm39) |
R627H |
probably damaging |
Het |
Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
Mapk9 |
T |
C |
11: 49,773,983 (GRCm39) |
*382Q |
probably null |
Het |
Mn1 |
A |
G |
5: 111,568,900 (GRCm39) |
S957G |
possibly damaging |
Het |
Mrgprb8 |
A |
T |
7: 48,038,412 (GRCm39) |
M28L |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,555,749 (GRCm39) |
I913V |
probably benign |
Het |
Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
Pde4dip |
A |
C |
3: 97,624,413 (GRCm39) |
|
probably benign |
Het |
Rbpj |
C |
T |
5: 53,803,390 (GRCm39) |
|
probably benign |
Het |
Ric1 |
T |
C |
19: 29,555,047 (GRCm39) |
I387T |
probably benign |
Het |
Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
Scarb1 |
C |
A |
5: 125,374,278 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
A |
T |
5: 35,876,458 (GRCm39) |
|
probably benign |
Het |
Slc22a23 |
G |
A |
13: 34,379,462 (GRCm39) |
T435I |
probably damaging |
Het |
Slc22a26 |
A |
T |
19: 7,773,509 (GRCm39) |
|
probably benign |
Het |
Taf6l |
T |
C |
19: 8,750,733 (GRCm39) |
I114V |
probably benign |
Het |
Tbc1d8b |
A |
G |
X: 138,613,025 (GRCm39) |
S284G |
possibly damaging |
Het |
Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
C |
T |
17: 23,565,238 (GRCm39) |
S375F |
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 |
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 |
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 |
|
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'- TGACCACCACCCAAGCTATGGATG -3'
(R):5'- GCTACAGAAGTTGTGCCAGTTGTTG -3'
Sequencing Primer
(F):5'- ACCCAAGCTATGGATGGTTCTAC -3'
(R):5'- GACTTAGTGGTTCCTACAGGCAC -3'
|
Posted On |
2013-07-30 |