Incidental Mutation 'R2299:4933434E20Rik'
| ID |
245256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4933434E20Rik
|
| Ensembl Gene |
ENSMUSG00000027942 |
| Gene Name |
RIKEN cDNA 4933434E20 gene |
| Synonyms |
|
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89958941-89969754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89971845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 68
(N68S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029551]
[ENSMUST00000068798]
[ENSMUST00000159064]
[ENSMUST00000160640]
[ENSMUST00000161918]
[ENSMUST00000162114]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029551
AA Change: N68S
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029551
Gene: ENSMUSG00000027942
AA Change: N68S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4558
|
20 |
105 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068798
|
| SMART Domains |
Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
171 |
2.6e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159064
|
| SMART Domains |
Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
6 |
188 |
4.2e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160640
|
| SMART Domains |
Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
3.2e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161918
|
| SMART Domains |
Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
64 |
2.2e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162114
|
| SMART Domains |
Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
1.4e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162390
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
Het |
|
| Other mutations in 4933434E20Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:4933434E20Rik
|
APN |
3 |
89,960,400 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01621:4933434E20Rik
|
APN |
3 |
89,971,809 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01984:4933434E20Rik
|
APN |
3 |
89,970,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02005:4933434E20Rik
|
APN |
3 |
89,965,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0446:4933434E20Rik
|
UTSW |
3 |
89,971,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1717:4933434E20Rik
|
UTSW |
3 |
89,963,544 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1816:4933434E20Rik
|
UTSW |
3 |
89,960,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2170:4933434E20Rik
|
UTSW |
3 |
89,963,611 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2981:4933434E20Rik
|
UTSW |
3 |
89,965,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3879:4933434E20Rik
|
UTSW |
3 |
89,970,561 (GRCm39) |
unclassified |
probably benign |
|
|
R4065:4933434E20Rik
|
UTSW |
3 |
89,966,073 (GRCm39) |
nonsense |
probably null |
|
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:4933434E20Rik
|
UTSW |
3 |
89,970,516 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5076:4933434E20Rik
|
UTSW |
3 |
89,963,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6126:4933434E20Rik
|
UTSW |
3 |
89,963,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6337:4933434E20Rik
|
UTSW |
3 |
89,969,040 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6562:4933434E20Rik
|
UTSW |
3 |
89,970,543 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7312:4933434E20Rik
|
UTSW |
3 |
89,969,021 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7316:4933434E20Rik
|
UTSW |
3 |
89,969,020 (GRCm39) |
missense |
probably benign |
|
|
R7473:4933434E20Rik
|
UTSW |
3 |
89,965,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7990:4933434E20Rik
|
UTSW |
3 |
89,970,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8125:4933434E20Rik
|
UTSW |
3 |
89,972,818 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9268:4933434E20Rik
|
UTSW |
3 |
89,969,030 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGCATCTGACTCTATTCATGG -3'
(R):5'- CTCAGAGGCAAATGATATGGTTAAGTC -3'
Sequencing Primer
(F):5'- GTCAGTTCAAAGCAGCGGATCC -3'
(R):5'- GCAAATGATATGGTTAAGTCGAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation