Incidental Mutation 'R3805:1700012B07Rik'
ID |
274564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700012B07Rik
|
Ensembl Gene |
ENSMUSG00000020617 |
Gene Name |
RIKEN cDNA 1700012B07 gene |
Synonyms |
|
MMRRC Submission |
040762-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R3805 (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: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
Ifit1 |
A |
G |
19: 34,625,556 (GRCm39) |
I231V |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
Map7d1 |
A |
T |
4: 126,131,084 (GRCm39) |
|
probably null |
Het |
Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
Naaladl1 |
A |
G |
19: 6,164,895 (GRCm39) |
T628A |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
Oxtr |
T |
C |
6: 112,454,147 (GRCm39) |
K39R |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
Tmem184c |
C |
A |
8: 78,323,504 (GRCm39) |
D453Y |
unknown |
Het |
Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
probably null |
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 |
|
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 |
|
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 |
2015-04-02 |