Incidental Mutation 'E0370:4930544D05Rik'
ID |
206415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930544D05Rik
|
Ensembl Gene |
ENSMUSG00000087279 |
Gene Name |
RIKEN cDNA 4930544D05 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
E0370 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70506674-70507716 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TGCAGCGACTGGACGGCGGCA to TGCA
at 70507252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014753]
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102556]
[ENSMUST00000102558]
[ENSMUST00000102559]
[ENSMUST00000180052]
[ENSMUST00000135865]
[ENSMUST00000144960]
|
AlphaFold |
J3QK56 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014753
|
SMART Domains |
Protein: ENSMUSP00000014753 Gene: ENSMUSG00000014609
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
24 |
240 |
2.9e-65 |
PFAM |
Pfam:Neur_chan_memb
|
247 |
475 |
6.5e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072237
|
SMART Domains |
Protein: ENSMUSP00000072091 Gene: ENSMUSG00000020827
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
low complexity region
|
837 |
874 |
N/A |
INTRINSIC |
CNH
|
1026 |
1324 |
1.58e-113 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072873
|
SMART Domains |
Protein: ENSMUSP00000072649 Gene: ENSMUSG00000020827
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
low complexity region
|
829 |
853 |
N/A |
INTRINSIC |
CNH
|
1019 |
1317 |
1.58e-113 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079244
|
SMART Domains |
Protein: ENSMUSP00000078234 Gene: ENSMUSG00000020827
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
314 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
348 |
493 |
N/A |
INTRINSIC |
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
low complexity region
|
643 |
656 |
N/A |
INTRINSIC |
low complexity region
|
716 |
735 |
N/A |
INTRINSIC |
low complexity region
|
826 |
850 |
N/A |
INTRINSIC |
CNH
|
1016 |
1314 |
1.58e-113 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102556
|
SMART Domains |
Protein: ENSMUSP00000099616 Gene: ENSMUSG00000014609
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
24 |
240 |
5.4e-65 |
PFAM |
Pfam:Neur_chan_memb
|
247 |
474 |
2.9e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102558
|
SMART Domains |
Protein: ENSMUSP00000099618 Gene: ENSMUSG00000020827
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
low complexity region
|
792 |
816 |
N/A |
INTRINSIC |
CNH
|
982 |
1280 |
1.58e-113 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102559
|
SMART Domains |
Protein: ENSMUSP00000099619 Gene: ENSMUSG00000020827
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
low complexity region
|
800 |
824 |
N/A |
INTRINSIC |
CNH
|
990 |
1288 |
1.58e-113 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000180052
|
SMART Domains |
Protein: ENSMUSP00000137259 Gene: ENSMUSG00000087279
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000135865
|
SMART Domains |
Protein: ENSMUSP00000135933 Gene: ENSMUSG00000087279
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
low complexity region
|
101 |
107 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000144960
|
SMART Domains |
Protein: ENSMUSP00000136077 Gene: ENSMUSG00000087279
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125853
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135920
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134836
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125387
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136663
|
SMART Domains |
Protein: ENSMUSP00000117959 Gene: ENSMUSG00000020827
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
1 |
140 |
2.3e-22 |
PFAM |
Pfam:Pkinase
|
1 |
143 |
1.6e-30 |
PFAM |
low complexity region
|
161 |
192 |
N/A |
INTRINSIC |
coiled coil region
|
204 |
349 |
N/A |
INTRINSIC |
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
low complexity region
|
474 |
487 |
N/A |
INTRINSIC |
low complexity region
|
500 |
513 |
N/A |
INTRINSIC |
low complexity region
|
573 |
592 |
N/A |
INTRINSIC |
low complexity region
|
691 |
728 |
N/A |
INTRINSIC |
CNH
|
880 |
1178 |
1.58e-113 |
SMART |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.1%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aire |
T |
A |
10: 77,877,897 (GRCm39) |
N180I |
probably damaging |
Het |
Asic3 |
G |
T |
5: 24,618,985 (GRCm39) |
L92F |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,984,352 (GRCm39) |
D4455N |
probably damaging |
Het |
Cd36 |
A |
T |
5: 17,990,747 (GRCm39) |
C464* |
probably null |
Het |
Cdx1 |
A |
C |
18: 61,153,501 (GRCm39) |
I179S |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,406,441 (GRCm39) |
|
probably null |
Het |
Dst |
A |
T |
1: 34,288,552 (GRCm39) |
|
probably benign |
Het |
Epb41l3 |
A |
G |
17: 69,581,799 (GRCm39) |
N580S |
possibly damaging |
Het |
Hnrnpm |
A |
T |
17: 33,877,896 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
G |
7: 125,449,474 (GRCm39) |
D846G |
probably benign |
Het |
Map2 |
A |
T |
1: 66,455,883 (GRCm39) |
|
probably benign |
Het |
Mapk11 |
T |
C |
15: 89,030,716 (GRCm39) |
D88G |
probably damaging |
Het |
Mbd4 |
C |
T |
6: 115,826,116 (GRCm39) |
E271K |
possibly damaging |
Het |
Mpp4 |
T |
G |
1: 59,178,917 (GRCm39) |
|
probably benign |
Het |
Mtarc1 |
T |
C |
1: 184,527,425 (GRCm39) |
|
probably benign |
Het |
Muc2 |
T |
C |
7: 141,282,598 (GRCm39) |
Y609H |
probably damaging |
Het |
Or8b3b |
A |
T |
9: 38,583,857 (GRCm39) |
D307E |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,681,614 (GRCm39) |
|
probably null |
Het |
Prdm11 |
T |
C |
2: 92,810,924 (GRCm39) |
Y225C |
probably damaging |
Het |
Psmc3 |
T |
A |
2: 90,885,463 (GRCm39) |
|
probably null |
Het |
Slc26a8 |
A |
T |
17: 28,861,361 (GRCm39) |
D774E |
possibly damaging |
Het |
Slc9a2 |
A |
T |
1: 40,802,701 (GRCm39) |
|
probably null |
Het |
Smc1b |
A |
G |
15: 85,011,782 (GRCm39) |
Y168H |
probably damaging |
Het |
Steap1 |
T |
C |
5: 5,790,673 (GRCm39) |
R92G |
probably damaging |
Het |
Tbx22 |
T |
C |
X: 106,728,759 (GRCm39) |
I430T |
probably benign |
Het |
Tfap4 |
T |
A |
16: 4,377,334 (GRCm39) |
H16L |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,897,917 (GRCm39) |
D855G |
probably damaging |
Het |
Trip13 |
A |
G |
13: 74,068,558 (GRCm39) |
|
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn2r121 |
A |
G |
X: 123,037,617 (GRCm39) |
V801A |
probably benign |
Het |
Wiz |
C |
T |
17: 32,574,092 (GRCm39) |
R935Q |
probably damaging |
Het |
|
Other mutations in 4930544D05Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02216:4930544D05Rik
|
APN |
11 |
70,507,005 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0271:4930544D05Rik
|
UTSW |
11 |
70,507,474 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1887:4930544D05Rik
|
UTSW |
11 |
70,507,249 (GRCm39) |
missense |
probably damaging |
0.98 |
R5066:4930544D05Rik
|
UTSW |
11 |
70,507,417 (GRCm39) |
missense |
probably benign |
0.17 |
R6119:4930544D05Rik
|
UTSW |
11 |
70,507,317 (GRCm39) |
missense |
probably damaging |
0.99 |
R6959:4930544D05Rik
|
UTSW |
11 |
70,507,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R8131:4930544D05Rik
|
UTSW |
11 |
70,506,834 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTAAGAGAAGCTGCAGC -3'
(R):5'- CCCAGTTGGCATAGGGTTTG -3'
Sequencing Primer
(F):5'- AGCCAGCATCATGAGCTTTG -3'
(R):5'- TGAGGTAGACCCGTGCAAACC -3'
|
Posted On |
2014-06-23 |