Incidental Mutation 'R3158:E330034G19Rik'
| ID |
263596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E330034G19Rik
|
| Ensembl Gene |
ENSMUSG00000038925 |
| Gene Name |
RIKEN cDNA E330034G19 gene |
| Synonyms |
ZPAC |
| MMRRC Submission |
040609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R3158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24344762-24348165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24346965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 84
(Y84F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161740]
[ENSMUST00000162224]
[ENSMUST00000163055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041413
AA Change: Y149F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040386
Gene: ENSMUSG00000038925
AA Change: Y149F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
78 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
172 |
N/A |
INTRINSIC |
|
coiled coil region
|
207 |
325 |
N/A |
INTRINSIC |
|
| 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 |
possibly damaging
Transcript: ENSMUST00000161740
AA Change: Y149F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124917
Gene: ENSMUSG00000038925
AA Change: Y149F
| 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 |
possibly damaging
Transcript: ENSMUST00000162224
AA Change: Y84F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124926
Gene: ENSMUSG00000038925
AA Change: Y84F
| 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 |
possibly damaging
Transcript: ENSMUST00000163055
AA Change: Y84F
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123912
Gene: ENSMUSG00000038925
AA Change: Y84F
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
| Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
| Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
| Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
| Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
| Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
| Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
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 |
|
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 |
|
|
R6550:E330034G19Rik
|
UTSW |
14 |
24,346,886 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- GGTGCAGGTGCTTACTATGCAG -3'
(R):5'- TTTCTCAAGAGACTAACGTCCCAG -3'
Sequencing Primer
(F):5'- CAGGTGCTTACTATGCAGAGTCTC -3'
(R):5'- CGTCCCAGAATAGACATAGACAGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation