Incidental Mutation 'R1292:4930550C14Rik'
| ID |
150821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930550C14Rik
|
| Ensembl Gene |
ENSMUSG00000005131 |
| Gene Name |
RIKEN cDNA 4930550C14 gene |
| Synonyms |
|
| MMRRC Submission |
039358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R1292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
53313814-53345726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53336919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 74
(D74E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005262]
[ENSMUST00000215668]
[ENSMUST00000217318]
|
| AlphaFold |
Q9D4W2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005262
AA Change: D219E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215668
AA Change: D74E
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217318
AA Change: D74E
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0712 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,763,343 (GRCm39) |
T624S |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,704,092 (GRCm39) |
Y342C |
probably damaging |
Het |
| Clcnka |
A |
G |
4: 141,122,903 (GRCm39) |
|
probably benign |
Het |
| Cma2 |
C |
T |
14: 56,211,199 (GRCm39) |
R164C |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,026 (GRCm39) |
D496G |
probably damaging |
Het |
| Ctbp2 |
T |
A |
7: 132,616,918 (GRCm39) |
R6W |
probably damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,802,804 (GRCm39) |
T230A |
probably benign |
Het |
| Defb40 |
A |
C |
8: 19,028,080 (GRCm39) |
I18S |
probably benign |
Het |
| Fcgbpl1 |
A |
C |
7: 27,842,219 (GRCm39) |
|
probably benign |
Het |
| Gm10036 |
T |
G |
18: 15,966,368 (GRCm39) |
I173S |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,846,951 (GRCm39) |
I3634L |
probably benign |
Het |
| Igfbp1 |
A |
G |
11: 7,150,863 (GRCm39) |
N218S |
probably damaging |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,725,991 (GRCm39) |
|
probably benign |
Het |
| Ly9 |
T |
C |
1: 171,416,671 (GRCm39) |
|
probably null |
Het |
| Mmut |
C |
A |
17: 41,252,298 (GRCm39) |
A280E |
probably damaging |
Het |
| Or5k16 |
C |
T |
16: 58,736,134 (GRCm39) |
R290K |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,420 (GRCm39) |
F54S |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,885 (GRCm39) |
V421A |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,508,569 (GRCm39) |
L779Q |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,939,644 (GRCm39) |
|
probably benign |
Het |
| Prss16 |
T |
A |
13: 22,193,691 (GRCm39) |
K35* |
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
| Slc2a2 |
C |
T |
3: 28,771,637 (GRCm39) |
T189I |
probably damaging |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,531,856 (GRCm39) |
I251V |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,534,578 (GRCm39) |
|
probably null |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,205,880 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp458 |
A |
T |
13: 67,404,754 (GRCm39) |
C562S |
probably damaging |
Het |
|
| Other mutations in 4930550C14Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0310:4930550C14Rik
|
UTSW |
9 |
53,336,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:4930550C14Rik
|
UTSW |
9 |
53,319,365 (GRCm39) |
missense |
probably benign |
|
|
R1104:4930550C14Rik
|
UTSW |
9 |
53,332,917 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2182:4930550C14Rik
|
UTSW |
9 |
53,334,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3924:4930550C14Rik
|
UTSW |
9 |
53,343,705 (GRCm39) |
missense |
probably benign |
|
|
R4756:4930550C14Rik
|
UTSW |
9 |
53,336,830 (GRCm39) |
missense |
probably benign |
|
|
R4757:4930550C14Rik
|
UTSW |
9 |
53,336,830 (GRCm39) |
missense |
probably benign |
|
|
R4834:4930550C14Rik
|
UTSW |
9 |
53,343,787 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5244:4930550C14Rik
|
UTSW |
9 |
53,323,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:4930550C14Rik
|
UTSW |
9 |
53,325,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6353:4930550C14Rik
|
UTSW |
9 |
53,325,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6376:4930550C14Rik
|
UTSW |
9 |
53,339,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6988:4930550C14Rik
|
UTSW |
9 |
53,323,056 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7163:4930550C14Rik
|
UTSW |
9 |
53,319,372 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7177:4930550C14Rik
|
UTSW |
9 |
53,325,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:4930550C14Rik
|
UTSW |
9 |
53,334,317 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7381:4930550C14Rik
|
UTSW |
9 |
53,323,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8146:4930550C14Rik
|
UTSW |
9 |
53,334,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:4930550C14Rik
|
UTSW |
9 |
53,334,258 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGATAAACAGACCTCCTCTCCC -3'
(R):5'- GGCTATGTTCATAACCCCAAGGTTCAA -3'
Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- GTGTGTTTGTCCAGTTCAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation