Incidental Mutation 'R3707:1700012B07Rik'
ID |
258758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700012B07Rik
|
Ensembl Gene |
ENSMUSG00000020617 |
Gene Name |
RIKEN cDNA 1700012B07 gene |
Synonyms |
|
MMRRC Submission |
040700-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R3707 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
109679093-109718905 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 109684980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 172
(C172*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020941]
[ENSMUST00000106674]
[ENSMUST00000143578]
|
AlphaFold |
Q3V0S8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020941
AA Change: C172*
|
SMART Domains |
Protein: ENSMUSP00000020941 Gene: ENSMUSG00000020617 AA Change: C172*
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
46 |
N/A |
INTRINSIC |
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106674
AA Change: C172*
|
SMART Domains |
Protein: ENSMUSP00000102285 Gene: ENSMUSG00000020617 AA Change: C172*
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
46 |
N/A |
INTRINSIC |
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143578
|
SMART Domains |
Protein: ENSMUSP00000115395 Gene: ENSMUSG00000020617
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
38 |
N/A |
INTRINSIC |
low complexity region
|
53 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147006
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Avpr1a |
T |
A |
10: 122,285,014 (GRCm39) |
F102Y |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
Chrng |
C |
T |
1: 87,138,333 (GRCm39) |
Q375* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
Dennd6a |
T |
C |
14: 26,313,546 (GRCm39) |
|
probably benign |
Het |
Eef2k |
C |
A |
7: 120,483,935 (GRCm39) |
L224I |
probably damaging |
Het |
Gm10033 |
G |
C |
8: 69,825,068 (GRCm39) |
|
noncoding transcript |
Het |
Gm11545 |
T |
C |
11: 94,648,385 (GRCm39) |
|
noncoding transcript |
Het |
Herpud1 |
T |
A |
8: 95,118,867 (GRCm39) |
V207D |
probably damaging |
Het |
Hmbox1 |
T |
C |
14: 65,134,285 (GRCm39) |
Y105C |
probably benign |
Het |
Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,801,099 (GRCm39) |
L83P |
probably damaging |
Het |
Lrch1 |
C |
T |
14: 75,095,437 (GRCm39) |
M134I |
probably damaging |
Het |
Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
Mtg1 |
A |
T |
7: 139,729,717 (GRCm39) |
K269M |
probably damaging |
Het |
Nkain3 |
A |
T |
4: 20,484,920 (GRCm39) |
F52L |
possibly damaging |
Het |
Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
Or12e10 |
T |
C |
2: 87,640,520 (GRCm39) |
C119R |
probably damaging |
Het |
Or6c8 |
T |
A |
10: 128,915,254 (GRCm39) |
I193F |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
Pdhb |
T |
C |
14: 8,170,409 (GRCm38) |
N114S |
probably damaging |
Het |
Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
Pimreg |
G |
A |
11: 71,937,158 (GRCm39) |
|
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
Resf1 |
C |
T |
6: 149,230,611 (GRCm39) |
S1219L |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,983,592 (GRCm39) |
D578E |
probably damaging |
Het |
Rrbp1 |
G |
T |
2: 143,795,197 (GRCm39) |
A1269E |
probably benign |
Het |
Rufy3 |
G |
A |
5: 88,790,891 (GRCm39) |
A531T |
probably benign |
Het |
Slc22a22 |
C |
A |
15: 57,114,369 (GRCm39) |
L319F |
probably damaging |
Het |
Tapbpl |
A |
G |
6: 125,201,658 (GRCm39) |
|
probably null |
Het |
Tdrd1 |
T |
C |
19: 56,854,425 (GRCm39) |
S1124P |
possibly damaging |
Het |
Top2a |
T |
C |
11: 98,887,651 (GRCm39) |
K1286E |
probably benign |
Het |
Top2b |
T |
C |
14: 16,388,447 (GRCm38) |
V188A |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,296,895 (GRCm39) |
I630N |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,315,981 (GRCm39) |
T613A |
possibly damaging |
Het |
Zbtb40 |
A |
G |
4: 136,726,879 (GRCm39) |
Y486H |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,960,553 (GRCm39) |
T13A |
probably benign |
Het |
Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
|
Other mutations in 1700012B07Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01916:1700012B07Rik
|
APN |
11 |
109,684,937 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03006:1700012B07Rik
|
APN |
11 |
109,718,671 (GRCm39) |
missense |
probably damaging |
0.98 |
R0626:1700012B07Rik
|
UTSW |
11 |
109,679,547 (GRCm39) |
unclassified |
probably benign |
|
R1566:1700012B07Rik
|
UTSW |
11 |
109,679,632 (GRCm39) |
missense |
probably benign |
0.01 |
R1654:1700012B07Rik
|
UTSW |
11 |
109,688,225 (GRCm39) |
missense |
probably benign |
0.36 |
R2373:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R2405:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R2410:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R2411:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3708:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3732:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3745:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3783:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3784:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3785:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3805:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3806:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3922:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R3926:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R4085:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R4089:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R4110:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R4111:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R4112:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R4171:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R4506:1700012B07Rik
|
UTSW |
11 |
109,685,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:1700012B07Rik
|
UTSW |
11 |
109,682,498 (GRCm39) |
missense |
probably benign |
0.00 |
R5032:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R5033:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R5971:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R6078:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R6079:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R6138:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R6354:1700012B07Rik
|
UTSW |
11 |
109,685,042 (GRCm39) |
missense |
probably benign |
0.33 |
R8752:1700012B07Rik
|
UTSW |
11 |
109,704,396 (GRCm39) |
missense |
probably damaging |
0.99 |
R9288:1700012B07Rik
|
UTSW |
11 |
109,704,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGAGAATAGATGCTTGCCAATC -3'
(R):5'- AGAGCTGCCTCCTGTAGAGTAC -3'
Sequencing Primer
(F):5'- GCTTGCCAATCTAAGATACTGAG -3'
(R):5'- GTACAGCTTGTCTAACGAAGC -3'
|
Posted On |
2015-01-23 |