Incidental Mutation 'R2410:1700012B07Rik'
ID |
249958 |
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 # |
R2410 (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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
C |
A |
17: 43,766,157 (GRCm39) |
N1326K |
probably benign |
Het |
Ciita |
A |
G |
16: 10,328,568 (GRCm39) |
E284G |
probably damaging |
Het |
Ctbp2 |
T |
C |
7: 132,616,083 (GRCm39) |
Y284C |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,991,262 (GRCm39) |
D2368G |
probably damaging |
Het |
Enpp3 |
C |
T |
10: 24,650,716 (GRCm39) |
V807I |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,439,240 (GRCm39) |
D491G |
probably damaging |
Het |
Ero1a |
C |
T |
14: 45,542,723 (GRCm39) |
V101I |
possibly damaging |
Het |
Fbxl7 |
A |
G |
15: 26,895,111 (GRCm39) |
Y9H |
possibly damaging |
Het |
Fzd2 |
A |
G |
11: 102,496,453 (GRCm39) |
Y299C |
possibly damaging |
Het |
Lamc1 |
G |
A |
1: 153,123,141 (GRCm39) |
T683M |
possibly damaging |
Het |
Lrrc39 |
C |
T |
3: 116,374,899 (GRCm39) |
P327S |
probably benign |
Het |
Marf1 |
A |
T |
16: 13,933,691 (GRCm39) |
F1566I |
probably benign |
Het |
Me2 |
A |
T |
18: 73,924,183 (GRCm39) |
M343K |
probably damaging |
Het |
Mlxip |
T |
A |
5: 123,581,132 (GRCm39) |
W260R |
probably damaging |
Het |
Mrps17 |
T |
C |
5: 129,795,047 (GRCm39) |
V64A |
probably damaging |
Het |
Or4c118 |
A |
T |
2: 88,974,899 (GRCm39) |
I156N |
possibly damaging |
Het |
Phldb3 |
C |
T |
7: 24,323,719 (GRCm39) |
S450L |
probably benign |
Het |
Pi4k2a |
A |
G |
19: 42,093,316 (GRCm39) |
E219G |
possibly damaging |
Het |
Polr1a |
T |
C |
6: 71,951,866 (GRCm39) |
S1478P |
probably benign |
Het |
Rab14 |
T |
C |
2: 35,076,762 (GRCm39) |
|
probably null |
Het |
Rnf43 |
T |
C |
11: 87,623,085 (GRCm39) |
Y729H |
possibly damaging |
Het |
Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
Sorbs1 |
T |
A |
19: 40,361,959 (GRCm39) |
I142F |
probably damaging |
Het |
Tmem255b |
A |
G |
8: 13,491,278 (GRCm39) |
I66V |
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,996,123 (GRCm39) |
D175G |
probably damaging |
Het |
Zfp954 |
A |
T |
7: 7,120,808 (GRCm39) |
I74N |
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 |
R2373:1700012B07Rik
|
UTSW |
11 |
109,684,980 (GRCm39) |
nonsense |
probably null |
|
R2405:1700012B07Rik
|
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'- ACAGCTTGTCTAACGAAGCAC -3'
Sequencing Primer
(F):5'- TCCGGAGAATAGATGCTTGCCAATC -3'
(R):5'- GCTTGTCTAACGAAGCACCCATG -3'
|
Posted On |
2014-11-12 |