Incidental Mutation 'R2364:4930579F01Rik'
| ID |
247260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930579F01Rik
|
| Ensembl Gene |
ENSMUSG00000012042 |
| Gene Name |
RIKEN cDNA 4930579F01 gene |
| Synonyms |
|
| MMRRC Submission |
040345-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R2364 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
137869839-137899592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137871584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 268
(S268P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012186]
[ENSMUST00000199293]
|
| AlphaFold |
A0A5F8MPV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012186
AA Change: S268P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: S268P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATIAL
|
17 |
201 |
1.9e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199293
AA Change: S143P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042
AA Change: S143P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATIAL
|
1 |
76 |
9.6e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
G |
12: 113,508,250 (GRCm39) |
K208E |
probably benign |
Het |
| Anks6 |
A |
G |
4: 47,027,248 (GRCm39) |
S725P |
possibly damaging |
Het |
| Asb3 |
A |
G |
11: 31,051,192 (GRCm39) |
I549V |
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,147,558 (GRCm39) |
I6V |
possibly damaging |
Het |
| Cabs1 |
A |
T |
5: 88,128,092 (GRCm39) |
T248S |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,279,046 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,097,872 (GRCm39) |
L39* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,803,687 (GRCm39) |
E40G |
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,054,640 (GRCm39) |
M97V |
possibly damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,107,800 (GRCm39) |
V21A |
probably benign |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,187 (GRCm39) |
F537I |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,224,820 (GRCm39) |
D216G |
probably benign |
Het |
| Kif2a |
A |
T |
13: 107,113,344 (GRCm39) |
N428K |
probably damaging |
Het |
| Mapk10 |
G |
T |
5: 103,186,507 (GRCm39) |
N38K |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,185,344 (GRCm39) |
E865G |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,577 (GRCm39) |
Y252H |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,612 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5b104 |
A |
G |
19: 13,072,118 (GRCm39) |
V298A |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,007 (GRCm39) |
K180N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,991 (GRCm39) |
I506F |
probably damaging |
Het |
| Pros1 |
T |
G |
16: 62,734,211 (GRCm39) |
L339R |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,209 (GRCm39) |
I266V |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,899,391 (GRCm39) |
V632A |
probably damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,691,559 (GRCm39) |
C298* |
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,668,167 (GRCm39) |
D232E |
probably benign |
Het |
| Vamp1 |
A |
T |
6: 125,217,306 (GRCm39) |
I117L |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,370,024 (GRCm39) |
T364A |
possibly damaging |
Het |
| Zbtb47 |
C |
T |
9: 121,596,660 (GRCm39) |
P672L |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,682,449 (GRCm39) |
T339K |
probably damaging |
Het |
| Zfp317 |
A |
G |
9: 19,559,031 (GRCm39) |
D415G |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,923,686 (GRCm39) |
H636R |
probably damaging |
Het |
|
| Other mutations in 4930579F01Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:4930579F01Rik
|
APN |
3 |
137,891,959 (GRCm39) |
intron |
probably benign |
|
|
IGL02121:4930579F01Rik
|
APN |
3 |
137,870,134 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02424:4930579F01Rik
|
APN |
3 |
137,880,466 (GRCm39) |
splice site |
probably benign |
|
|
R0008:4930579F01Rik
|
UTSW |
3 |
137,882,346 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0008:4930579F01Rik
|
UTSW |
3 |
137,882,346 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0373:4930579F01Rik
|
UTSW |
3 |
137,879,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1082:4930579F01Rik
|
UTSW |
3 |
137,879,332 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1163:4930579F01Rik
|
UTSW |
3 |
137,882,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:4930579F01Rik
|
UTSW |
3 |
137,889,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:4930579F01Rik
|
UTSW |
3 |
137,882,217 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3978:4930579F01Rik
|
UTSW |
3 |
137,889,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4108:4930579F01Rik
|
UTSW |
3 |
137,889,431 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5812:4930579F01Rik
|
UTSW |
3 |
137,882,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:4930579F01Rik
|
UTSW |
3 |
137,889,528 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6329:4930579F01Rik
|
UTSW |
3 |
137,879,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6599:4930579F01Rik
|
UTSW |
3 |
137,882,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6862:4930579F01Rik
|
UTSW |
3 |
137,891,949 (GRCm39) |
intron |
probably benign |
|
|
R6897:4930579F01Rik
|
UTSW |
3 |
137,889,534 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7092:4930579F01Rik
|
UTSW |
3 |
137,889,506 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7919:4930579F01Rik
|
UTSW |
3 |
137,885,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8381:4930579F01Rik
|
UTSW |
3 |
137,879,282 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9024:4930579F01Rik
|
UTSW |
3 |
137,891,923 (GRCm39) |
missense |
unknown |
|
|
R9180:4930579F01Rik
|
UTSW |
3 |
137,889,470 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGACACATTTCTGTCAACTC -3'
(R):5'- ACGATATGGTAAGAGCTGACCTC -3'
Sequencing Primer
(F):5'- TCTCTCAATGCAAAACTGAGCAGATG -3'
(R):5'- GGCCTGCTAGATATTTGCTCAAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation