Incidental Mutation 'R1325:4921504E06Rik'
| ID |
157175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4921504E06Rik
|
| Ensembl Gene |
ENSMUSG00000026734 |
| Gene Name |
RIKEN cDNA 4921504E06 gene |
| Synonyms |
|
| MMRRC Submission |
039391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R1325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
19467648-19558721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19499938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 293
(I293T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062060]
|
| AlphaFold |
Q8CET2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062060
AA Change: I293T
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000058720
Gene: ENSMUSG00000026734
AA Change: I293T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:DUF4709
|
36 |
145 |
1e-45 |
PFAM |
|
coiled coil region
|
165 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
386 |
N/A |
INTRINSIC |
|
coiled coil region
|
417 |
463 |
N/A |
INTRINSIC |
|
Pfam:DUF4724
|
477 |
559 |
3.9e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131199
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,545 (GRCm39) |
I666V |
probably benign |
Het |
| Acsl1 |
G |
A |
8: 46,966,337 (GRCm39) |
V164I |
probably benign |
Het |
| Aox3 |
C |
T |
1: 58,215,726 (GRCm39) |
Q1053* |
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,423,304 (GRCm39) |
S921P |
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,791,097 (GRCm39) |
M419T |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,235,516 (GRCm39) |
I145T |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,946,562 (GRCm39) |
V456A |
possibly damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,115 (GRCm39) |
T353A |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,381 (GRCm39) |
|
probably null |
Het |
| Echdc1 |
A |
T |
10: 29,193,544 (GRCm39) |
T14S |
probably benign |
Het |
| Fgd6 |
G |
A |
10: 93,963,289 (GRCm39) |
R1129H |
probably damaging |
Het |
| Fstl1 |
A |
G |
16: 37,649,083 (GRCm39) |
D197G |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1 |
A |
T |
15: 101,756,641 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
C |
A |
12: 72,543,878 (GRCm39) |
Q1116K |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,844 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or2j6 |
G |
A |
7: 139,980,794 (GRCm39) |
P55L |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,311,300 (GRCm39) |
E338G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,730,738 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in 4921504E06Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00776:4921504E06Rik
|
APN |
2 |
19,545,182 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01590:4921504E06Rik
|
APN |
2 |
19,482,590 (GRCm39) |
splice site |
probably benign |
|
|
IGL02264:4921504E06Rik
|
APN |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
|
IGL02591:4921504E06Rik
|
APN |
2 |
19,485,249 (GRCm39) |
missense |
probably benign |
0.26 |
|
H8786:4921504E06Rik
|
UTSW |
2 |
19,498,905 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0545:4921504E06Rik
|
UTSW |
2 |
19,547,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:4921504E06Rik
|
UTSW |
2 |
19,482,667 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1456:4921504E06Rik
|
UTSW |
2 |
19,485,731 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2013:4921504E06Rik
|
UTSW |
2 |
19,545,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2089:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:4921504E06Rik
|
UTSW |
2 |
19,485,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3982:4921504E06Rik
|
UTSW |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
|
R3983:4921504E06Rik
|
UTSW |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
|
R4074:4921504E06Rik
|
UTSW |
2 |
19,485,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4995:4921504E06Rik
|
UTSW |
2 |
19,498,995 (GRCm39) |
nonsense |
probably null |
|
|
R5303:4921504E06Rik
|
UTSW |
2 |
19,521,110 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5308:4921504E06Rik
|
UTSW |
2 |
19,528,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6227:4921504E06Rik
|
UTSW |
2 |
19,558,581 (GRCm39) |
splice site |
probably null |
|
|
R6253:4921504E06Rik
|
UTSW |
2 |
19,528,929 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6268:4921504E06Rik
|
UTSW |
2 |
19,545,219 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6496:4921504E06Rik
|
UTSW |
2 |
19,545,217 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7196:4921504E06Rik
|
UTSW |
2 |
19,498,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:4921504E06Rik
|
UTSW |
2 |
19,545,219 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8146:4921504E06Rik
|
UTSW |
2 |
19,498,814 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8150:4921504E06Rik
|
UTSW |
2 |
19,538,635 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8534:4921504E06Rik
|
UTSW |
2 |
19,545,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:4921504E06Rik
|
UTSW |
2 |
19,522,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:4921504E06Rik
|
UTSW |
2 |
19,485,343 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGTTCTTGAACCCAGAGGGATAAC -3'
(R):5'- TGCTTAAAGTGAGAAGGCTTCAGACAC -3'
Sequencing Primer
(F):5'- GGGATAACAATAGCAACAGagatag -3'
(R):5'- TGACTGGAAATCAGTATTAACGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation