Incidental Mutation 'R6550:E330034G19Rik'
| ID |
521537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E330034G19Rik
|
| Ensembl Gene |
ENSMUSG00000038925 |
| Gene Name |
RIKEN cDNA E330034G19 gene |
| Synonyms |
ZPAC |
| MMRRC Submission |
044675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R6550 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24344762-24348165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24346886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 58
(M58V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161740]
[ENSMUST00000162224]
[ENSMUST00000163055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160710
|
| SMART Domains |
Protein: ENSMUSP00000125673
Gene: ENSMUSG00000038925
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
96 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161740
AA Change: M123V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124917
Gene: ENSMUSG00000038925
AA Change: M123V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
100 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
229 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162224
AA Change: M58V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124926
Gene: ENSMUSG00000038925
AA Change: M58V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
107 |
N/A |
INTRINSIC |
|
coiled coil region
|
136 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163055
AA Change: M58V
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123912
Gene: ENSMUSG00000038925
AA Change: M58V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
107 |
N/A |
INTRINSIC |
|
coiled coil region
|
142 |
181 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apbb1ip |
A |
G |
2: 22,748,245 (GRCm39) |
D355G |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,380 (GRCm39) |
D433G |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,499,503 (GRCm39) |
T256A |
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,266,113 (GRCm39) |
T183S |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,167,477 (GRCm39) |
H1293Y |
possibly damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,358 (GRCm39) |
V243A |
probably benign |
Het |
| Camta1 |
A |
C |
4: 151,222,832 (GRCm39) |
F908L |
probably damaging |
Het |
| Cbx2 |
T |
C |
11: 118,919,851 (GRCm39) |
V472A |
possibly damaging |
Het |
| Cd22 |
T |
C |
7: 30,576,977 (GRCm39) |
D110G |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,631,220 (GRCm39) |
D764E |
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,874,674 (GRCm39) |
I1321T |
unknown |
Het |
| Cyp2c67 |
G |
T |
19: 39,605,854 (GRCm39) |
Y347* |
probably null |
Het |
| D630044L22Rik |
A |
T |
17: 26,180,628 (GRCm39) |
R66S |
possibly damaging |
Het |
| Defa27 |
A |
C |
8: 21,806,340 (GRCm39) |
R46S |
possibly damaging |
Het |
| Efhb |
G |
T |
17: 53,728,968 (GRCm39) |
H574N |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Erlin1 |
A |
T |
19: 44,025,602 (GRCm39) |
|
probably null |
Het |
| Gm10912 |
C |
T |
2: 103,896,996 (GRCm39) |
T45I |
possibly damaging |
Het |
| Hsh2d |
C |
A |
8: 72,952,297 (GRCm39) |
T156K |
probably benign |
Het |
| Lrrc49 |
G |
T |
9: 60,584,430 (GRCm39) |
Q139K |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,664,031 (GRCm39) |
S531G |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,863,941 (GRCm39) |
|
probably null |
Het |
| Mtarc2 |
C |
A |
1: 184,551,539 (GRCm39) |
R299L |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,775,482 (GRCm39) |
F1031S |
probably damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2n1d |
C |
T |
17: 38,646,896 (GRCm39) |
P283S |
possibly damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,246,839 (GRCm39) |
V237A |
possibly damaging |
Het |
| Polrmt |
C |
A |
10: 79,575,514 (GRCm39) |
Q672H |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,822,604 (GRCm39) |
D154G |
probably damaging |
Het |
| Rars1 |
T |
C |
11: 35,724,010 (GRCm39) |
I57V |
probably benign |
Het |
| Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
| Slc8b1 |
A |
G |
5: 120,662,082 (GRCm39) |
E257G |
probably damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,399,482 (GRCm39) |
P948L |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,640,519 (GRCm39) |
V206A |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
T |
A |
2: 128,666,385 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Tpr |
C |
T |
1: 150,299,728 (GRCm39) |
L1200F |
probably damaging |
Het |
| Trir |
G |
T |
8: 85,756,549 (GRCm39) |
V154L |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,101,032 (GRCm39) |
V195A |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,526,685 (GRCm39) |
I96V |
probably benign |
Het |
|
| Other mutations in E330034G19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02515:E330034G19Rik
|
APN |
14 |
24,348,052 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0565:E330034G19Rik
|
UTSW |
14 |
24,356,985 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1507:E330034G19Rik
|
UTSW |
14 |
24,357,055 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1819:E330034G19Rik
|
UTSW |
14 |
24,348,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3158:E330034G19Rik
|
UTSW |
14 |
24,346,965 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3966:E330034G19Rik
|
UTSW |
14 |
24,356,939 (GRCm39) |
missense |
unknown |
|
|
R4621:E330034G19Rik
|
UTSW |
14 |
24,346,070 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4992:E330034G19Rik
|
UTSW |
14 |
24,357,064 (GRCm39) |
missense |
unknown |
|
|
R5567:E330034G19Rik
|
UTSW |
14 |
24,346,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5570:E330034G19Rik
|
UTSW |
14 |
24,346,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5630:E330034G19Rik
|
UTSW |
14 |
24,358,336 (GRCm39) |
unclassified |
probably benign |
|
|
R6062:E330034G19Rik
|
UTSW |
14 |
24,343,448 (GRCm39) |
intron |
probably benign |
|
|
R6799:E330034G19Rik
|
UTSW |
14 |
24,346,178 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6831:E330034G19Rik
|
UTSW |
14 |
24,346,163 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6920:E330034G19Rik
|
UTSW |
14 |
24,358,310 (GRCm39) |
missense |
unknown |
|
|
R7457:E330034G19Rik
|
UTSW |
14 |
24,359,582 (GRCm39) |
missense |
unknown |
|
|
R8097:E330034G19Rik
|
UTSW |
14 |
24,356,920 (GRCm39) |
missense |
unknown |
|
|
R8210:E330034G19Rik
|
UTSW |
14 |
24,346,104 (GRCm39) |
missense |
|
|
|
R8221:E330034G19Rik
|
UTSW |
14 |
24,346,135 (GRCm39) |
splice site |
probably null |
|
|
R8243:E330034G19Rik
|
UTSW |
14 |
24,358,360 (GRCm39) |
missense |
|
|
|
R8830:E330034G19Rik
|
UTSW |
14 |
24,359,576 (GRCm39) |
missense |
unknown |
|
|
R9137:E330034G19Rik
|
UTSW |
14 |
24,346,109 (GRCm39) |
missense |
unknown |
|
|
R9143:E330034G19Rik
|
UTSW |
14 |
24,347,004 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9155:E330034G19Rik
|
UTSW |
14 |
24,346,938 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9425:E330034G19Rik
|
UTSW |
14 |
24,358,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9454:E330034G19Rik
|
UTSW |
14 |
24,346,860 (GRCm39) |
missense |
unknown |
|
|
R9781:E330034G19Rik
|
UTSW |
14 |
24,359,528 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGACATGGTTCCCTATTGG -3'
(R):5'- GTGAACAACAGCAGCCTGAC -3'
Sequencing Primer
(F):5'- GTCATGGATGTACTTGGACCC -3'
(R):5'- TGACCCAGCTGCCTGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation