Incidental Mutation 'R1155:1700093K21Rik'
| ID |
101676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700093K21Rik
|
| Ensembl Gene |
ENSMUSG00000020286 |
| Gene Name |
RIKEN cDNA 1700093K21 gene |
| Synonyms |
b2b3025Clo |
| MMRRC Submission |
039228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
23466203-23471155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23467270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 121
(E121G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020527]
[ENSMUST00000140122]
[ENSMUST00000156629]
[ENSMUST00000169264]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020527
AA Change: E121G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020527
Gene: ENSMUSG00000020286
AA Change: E121G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
Pfam:DUF4642
|
50 |
196 |
1.1e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140122
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156629
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169264
AA Change: E121G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131204
Gene: ENSMUSG00000020286
AA Change: E121G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
Pfam:DUF4642
|
50 |
196 |
1.3e-67 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit congenital heart defects associated with heterotaxy, as well as thoracic and abdominal visceral organ situs anomalies, and misaligned sternal vertebrae. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
T |
10: 85,465,155 (GRCm39) |
H665L |
probably damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,733,468 (GRCm39) |
V307I |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,176,869 (GRCm39) |
T42A |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,722,047 (GRCm39) |
K1493M |
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,659,289 (GRCm39) |
V552A |
possibly damaging |
Het |
| Cradd |
T |
C |
10: 95,158,586 (GRCm39) |
T54A |
probably benign |
Het |
| Elfn2 |
A |
G |
15: 78,557,344 (GRCm39) |
I401T |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Hoxc6 |
A |
G |
15: 102,919,279 (GRCm39) |
I172V |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,901,635 (GRCm39) |
L1112P |
possibly damaging |
Het |
| Lipo4 |
T |
A |
19: 33,480,595 (GRCm39) |
I258F |
probably benign |
Het |
| Morf4l1 |
A |
G |
9: 89,976,557 (GRCm39) |
V257A |
probably benign |
Het |
| Or51a8 |
A |
T |
7: 102,549,819 (GRCm39) |
M82L |
probably benign |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,609 (GRCm39) |
M367K |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,831,996 (GRCm39) |
L228P |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,939 (GRCm39) |
E107D |
probably benign |
Het |
| Shc1 |
A |
G |
3: 89,332,126 (GRCm39) |
I194V |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,668 (GRCm39) |
I278T |
probably benign |
Het |
| Tmem178 |
T |
A |
17: 81,308,429 (GRCm39) |
C275S |
possibly damaging |
Het |
| Tpsg1 |
A |
T |
17: 25,592,768 (GRCm39) |
Q40L |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,196,038 (GRCm39) |
E1354G |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,873,456 (GRCm39) |
I44T |
probably damaging |
Het |
| Vstm5 |
T |
C |
9: 15,168,849 (GRCm39) |
S138P |
probably damaging |
Het |
|
| Other mutations in 1700093K21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:1700093K21Rik
|
APN |
11 |
23,467,213 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02897:1700093K21Rik
|
APN |
11 |
23,467,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1677:1700093K21Rik
|
UTSW |
11 |
23,467,357 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3983:1700093K21Rik
|
UTSW |
11 |
23,467,220 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5485:1700093K21Rik
|
UTSW |
11 |
23,467,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5589:1700093K21Rik
|
UTSW |
11 |
23,468,066 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5678:1700093K21Rik
|
UTSW |
11 |
23,466,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:1700093K21Rik
|
UTSW |
11 |
23,468,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5996:1700093K21Rik
|
UTSW |
11 |
23,468,928 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R6072:1700093K21Rik
|
UTSW |
11 |
23,467,357 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6520:1700093K21Rik
|
UTSW |
11 |
23,467,285 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6930:1700093K21Rik
|
UTSW |
11 |
23,466,563 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7432:1700093K21Rik
|
UTSW |
11 |
23,468,839 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7558:1700093K21Rik
|
UTSW |
11 |
23,466,285 (GRCm39) |
splice site |
probably null |
|
|
R8077:1700093K21Rik
|
UTSW |
11 |
23,467,237 (GRCm39) |
missense |
probably benign |
|
|
R9688:1700093K21Rik
|
UTSW |
11 |
23,469,067 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:1700093K21Rik
|
UTSW |
11 |
23,468,144 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation