Incidental Mutation 'R4171:1700012B07Rik'
ID |
318144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700012B07Rik
|
Ensembl Gene |
ENSMUSG00000020617 |
Gene Name |
RIKEN cDNA 1700012B07 gene |
Synonyms |
|
MMRRC Submission |
041011-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R4171 (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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
Apmap |
A |
G |
2: 150,425,987 (GRCm39) |
V387A |
probably benign |
Het |
B130024G19Rik |
C |
T |
7: 70,038,454 (GRCm39) |
|
noncoding transcript |
Het |
Cd200r1 |
A |
G |
16: 44,613,127 (GRCm39) |
I244M |
probably damaging |
Het |
Clic6 |
T |
C |
16: 92,293,949 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
A |
G |
3: 114,001,863 (GRCm39) |
D429G |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,591,636 (GRCm39) |
Y458* |
probably null |
Het |
Elapor1 |
G |
T |
3: 108,368,259 (GRCm39) |
Q885K |
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,748,786 (GRCm39) |
Y378H |
probably benign |
Het |
Ifi203 |
A |
C |
1: 173,761,341 (GRCm39) |
|
probably benign |
Het |
Ifna6 |
T |
C |
4: 88,746,038 (GRCm39) |
V129A |
probably benign |
Het |
Igkv3-4 |
G |
A |
6: 70,649,324 (GRCm39) |
A108T |
probably damaging |
Het |
Itga1 |
G |
A |
13: 115,167,422 (GRCm39) |
Q165* |
probably null |
Het |
Kdm4c |
T |
A |
4: 74,199,135 (GRCm39) |
Y108N |
possibly damaging |
Het |
Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
Lrfn5 |
G |
A |
12: 61,890,168 (GRCm39) |
V486I |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,228,163 (GRCm39) |
|
probably null |
Het |
Mettl6 |
T |
C |
14: 31,215,624 (GRCm39) |
N52S |
probably damaging |
Het |
Nup54 |
A |
G |
5: 92,565,343 (GRCm39) |
I458T |
possibly damaging |
Het |
Or1e16 |
A |
C |
11: 73,286,365 (GRCm39) |
L161R |
probably damaging |
Het |
Or6c204 |
G |
A |
10: 129,022,453 (GRCm39) |
A279V |
probably benign |
Het |
Pecr |
A |
T |
1: 72,315,428 (GRCm39) |
N107K |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,593,997 (GRCm39) |
Q1307R |
probably benign |
Het |
Poll |
T |
C |
19: 45,544,492 (GRCm39) |
K310E |
probably damaging |
Het |
Rab29 |
A |
G |
1: 131,795,475 (GRCm39) |
Q29R |
probably benign |
Het |
Reg2 |
G |
A |
6: 78,383,574 (GRCm39) |
G99D |
probably damaging |
Het |
Rftn2 |
G |
A |
1: 55,253,429 (GRCm39) |
S58L |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,435,405 (GRCm39) |
E43G |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,757,815 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
T |
A |
12: 73,397,326 (GRCm39) |
Y323N |
probably benign |
Het |
Sp100 |
T |
C |
1: 85,634,562 (GRCm39) |
S152P |
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,248,810 (GRCm39) |
Y605C |
probably damaging |
Het |
Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
Vmn1r44 |
T |
A |
6: 89,870,996 (GRCm39) |
F247L |
probably damaging |
Het |
Zbtb39 |
C |
T |
10: 127,578,236 (GRCm39) |
T270I |
possibly damaging |
Het |
Zfp512b |
G |
A |
2: 181,232,391 (GRCm39) |
|
probably null |
Het |
Zwilch |
T |
A |
9: 64,065,997 (GRCm39) |
R255* |
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 |
|
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 |
|
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'- CCGGAGAATAGATGCTTGCC -3'
(R):5'- AGCTGCCTCCTGTAGAGTAC -3'
Sequencing Primer
(F):5'- GCTTGCCAATCTAAGATACTGAG -3'
(R):5'- GTACAGCTTGTCTAACGAAGC -3'
|
Posted On |
2015-06-10 |