Incidental Mutation 'R3748:2310003L06Rik'
ID |
309912 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2310003L06Rik
|
Ensembl Gene |
ENSMUSG00000007457 |
Gene Name |
RIKEN cDNA 2310003L06 gene |
Synonyms |
|
MMRRC Submission |
040733-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R3748 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
88117318-88120729 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 88112422 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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
Abca13 |
T |
C |
11: 9,266,119 (GRCm39) |
|
probably benign |
Het |
Acaca |
A |
G |
11: 84,202,235 (GRCm39) |
|
probably null |
Het |
Adam2 |
C |
T |
14: 66,297,361 (GRCm39) |
V182I |
probably benign |
Het |
Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
Cfap68 |
A |
G |
9: 50,677,050 (GRCm39) |
C14R |
probably benign |
Het |
Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
Cmss1 |
T |
C |
16: 57,122,635 (GRCm39) |
E253G |
probably damaging |
Het |
Csmd1 |
T |
G |
8: 15,956,071 (GRCm39) |
N3379H |
probably damaging |
Het |
Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
Golgb1 |
G |
C |
16: 36,739,274 (GRCm39) |
D2538H |
probably benign |
Het |
Hoxc12 |
A |
G |
15: 102,846,813 (GRCm39) |
E235G |
probably damaging |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Mfsd4b4 |
A |
G |
10: 39,770,132 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
Nrp1 |
T |
C |
8: 129,184,461 (GRCm39) |
W369R |
probably damaging |
Het |
Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
Or13a19 |
T |
C |
7: 139,903,041 (GRCm39) |
L143P |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
Tdh |
T |
C |
14: 63,733,442 (GRCm39) |
T149A |
probably benign |
Het |
Tnip3 |
C |
T |
6: 65,591,747 (GRCm39) |
L249F |
probably damaging |
Het |
Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
Vmn2r27 |
T |
C |
6: 124,207,351 (GRCm39) |
I97V |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly 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 |
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 |
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'- GGTCTCAGAAACTGAAGCAAAC -3'
(R):5'- TCCTACAGGCACTTGGGTTG -3'
Sequencing Primer
(F):5'- GATATGACCACCACCCAAGCTATG -3'
(R):5'- ACTGACAGTTGTAGTTACTAATGTGG -3'
|
Posted On |
2015-04-17 |