Incidental Mutation 'R2373:1700012B07Rik'
ID |
248209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700012B07Rik
|
Ensembl Gene |
ENSMUSG00000020617 |
Gene Name |
RIKEN cDNA 1700012B07 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R2373 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
T |
7: 127,836,487 (GRCm39) |
D35E |
probably benign |
Het |
9330159F19Rik |
A |
G |
10: 29,101,039 (GRCm39) |
N471D |
probably benign |
Het |
Ahctf1 |
A |
T |
1: 179,623,361 (GRCm39) |
F86I |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,473,457 (GRCm39) |
T849A |
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,244,367 (GRCm39) |
D965E |
probably damaging |
Het |
Asxl1 |
A |
G |
2: 153,243,820 (GRCm39) |
T1458A |
probably benign |
Het |
Cdc42bpa |
A |
T |
1: 179,939,349 (GRCm39) |
M876L |
possibly damaging |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,564,095 (GRCm39) |
V1710E |
probably benign |
Het |
Corin |
G |
A |
5: 72,496,381 (GRCm39) |
S524L |
probably damaging |
Het |
Dennd2c |
A |
G |
3: 103,064,158 (GRCm39) |
H658R |
probably damaging |
Het |
Disp3 |
A |
G |
4: 148,343,252 (GRCm39) |
V553A |
probably damaging |
Het |
Dpm2 |
T |
C |
2: 32,462,457 (GRCm39) |
F81S |
probably benign |
Het |
Emc2 |
T |
A |
15: 43,377,154 (GRCm39) |
I239N |
probably damaging |
Het |
Fhip1a |
C |
T |
3: 85,583,404 (GRCm39) |
W464* |
probably null |
Het |
Fzd5 |
C |
T |
1: 64,774,066 (GRCm39) |
G565D |
probably damaging |
Het |
Gpld1 |
T |
C |
13: 25,146,839 (GRCm39) |
F267S |
probably benign |
Het |
Kif14 |
C |
A |
1: 136,407,583 (GRCm39) |
A46E |
probably damaging |
Het |
Mta3 |
G |
T |
17: 84,091,730 (GRCm39) |
E179* |
probably null |
Het |
Ninl |
T |
G |
2: 150,822,037 (GRCm39) |
T22P |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,480,190 (GRCm39) |
N2039S |
probably damaging |
Het |
Rc3h2 |
A |
G |
2: 37,269,013 (GRCm39) |
S818P |
possibly damaging |
Het |
Scn11a |
T |
A |
9: 119,642,252 (GRCm39) |
E162D |
probably benign |
Het |
Slc5a7 |
A |
T |
17: 54,584,154 (GRCm39) |
W379R |
probably damaging |
Het |
Sptb |
C |
T |
12: 76,667,935 (GRCm39) |
V721M |
probably damaging |
Het |
Vmn1r82 |
T |
A |
7: 12,038,982 (GRCm39) |
V85E |
probably damaging |
Het |
Vmn2r130 |
T |
C |
17: 23,280,480 (GRCm39) |
I47T |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,518,665 (GRCm39) |
F41L |
probably benign |
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 |
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 |
|
R3707:1700012B07Rik
|
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'- TCCTCTGTAGATAATGAGTCCGG -3'
(R):5'- CAGCTTGTCTAACGAAGCACC -3'
Sequencing Primer
(F):5'- TCCGGAGAATAGATGCTTGCCAATC -3'
(R):5'- ACCCATGCAAACTGGTCCTTTG -3'
|
Posted On |
2014-11-11 |