Incidental Mutation 'R2170:4933434E20Rik'
ID |
237414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4933434E20Rik
|
Ensembl Gene |
ENSMUSG00000027942 |
Gene Name |
RIKEN cDNA 4933434E20 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2170 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
89958941-89969754 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89963611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 89
(L89Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029552]
[ENSMUST00000029553]
[ENSMUST00000064639]
[ENSMUST00000068798]
[ENSMUST00000090908]
[ENSMUST00000159064]
[ENSMUST00000162114]
[ENSMUST00000160640]
[ENSMUST00000198322]
[ENSMUST00000196633]
[ENSMUST00000161918]
[ENSMUST00000196843]
[ENSMUST00000197903]
[ENSMUST00000195995]
[ENSMUST00000199929]
[ENSMUST00000199834]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029552
AA Change: L89Q
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000029552 Gene: ENSMUSG00000027942 AA Change: L89Q
Domain | Start | End | E-Value | Type |
Pfam:NICE-3
|
1 |
189 |
1.3e-89 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029553
|
SMART Domains |
Protein: ENSMUSP00000029553 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
514 |
546 |
4e-22 |
PFAM |
low complexity region
|
554 |
589 |
N/A |
INTRINSIC |
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
low complexity region
|
714 |
745 |
N/A |
INTRINSIC |
low complexity region
|
748 |
804 |
N/A |
INTRINSIC |
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
low complexity region
|
893 |
916 |
N/A |
INTRINSIC |
low complexity region
|
1038 |
1051 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064639
|
SMART Domains |
Protein: ENSMUSP00000066138 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
low complexity region
|
394 |
403 |
N/A |
INTRINSIC |
low complexity region
|
405 |
414 |
N/A |
INTRINSIC |
low complexity region
|
464 |
489 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
520 |
551 |
4.1e-18 |
PFAM |
low complexity region
|
559 |
594 |
N/A |
INTRINSIC |
low complexity region
|
670 |
680 |
N/A |
INTRINSIC |
low complexity region
|
719 |
750 |
N/A |
INTRINSIC |
low complexity region
|
753 |
809 |
N/A |
INTRINSIC |
low complexity region
|
813 |
827 |
N/A |
INTRINSIC |
low complexity region
|
898 |
921 |
N/A |
INTRINSIC |
low complexity region
|
1043 |
1056 |
N/A |
INTRINSIC |
low complexity region
|
1077 |
1092 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000068798
AA Change: L89Q
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000066840 Gene: ENSMUSG00000027942 AA Change: L89Q
Domain | Start | End | E-Value | Type |
Pfam:NICE-3
|
1 |
171 |
2.6e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090908
|
SMART Domains |
Protein: ENSMUSP00000088424 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
148 |
N/A |
INTRINSIC |
low complexity region
|
173 |
201 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
low complexity region
|
470 |
495 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
525 |
557 |
3.6e-22 |
PFAM |
low complexity region
|
565 |
600 |
N/A |
INTRINSIC |
low complexity region
|
676 |
686 |
N/A |
INTRINSIC |
low complexity region
|
725 |
756 |
N/A |
INTRINSIC |
low complexity region
|
759 |
815 |
N/A |
INTRINSIC |
low complexity region
|
819 |
833 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159064
AA Change: L89Q
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124554 Gene: ENSMUSG00000027942 AA Change: L89Q
Domain | Start | End | E-Value | Type |
Pfam:NICE-3
|
6 |
188 |
4.2e-80 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159202
|
SMART Domains |
Protein: ENSMUSP00000123777 Gene: ENSMUSG00000027942
Domain | Start | End | E-Value | Type |
Pfam:NICE-3
|
1 |
61 |
2.3e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162114
AA Change: L89Q
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124822 Gene: ENSMUSG00000027942 AA Change: L89Q
Domain | Start | End | E-Value | Type |
Pfam:NICE-3
|
1 |
189 |
1.4e-89 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160640
AA Change: L89Q
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124028 Gene: ENSMUSG00000027942 AA Change: L89Q
Domain | Start | End | E-Value | Type |
Pfam:NICE-3
|
1 |
189 |
3.2e-89 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196568
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161874
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160263
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198322
|
SMART Domains |
Protein: ENSMUSP00000142524 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
low complexity region
|
369 |
378 |
N/A |
INTRINSIC |
low complexity region
|
380 |
389 |
N/A |
INTRINSIC |
low complexity region
|
439 |
464 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
494 |
526 |
4.1e-22 |
PFAM |
low complexity region
|
534 |
569 |
N/A |
INTRINSIC |
low complexity region
|
645 |
655 |
N/A |
INTRINSIC |
low complexity region
|
694 |
725 |
N/A |
INTRINSIC |
low complexity region
|
728 |
784 |
N/A |
INTRINSIC |
low complexity region
|
788 |
802 |
N/A |
INTRINSIC |
low complexity region
|
873 |
896 |
N/A |
INTRINSIC |
low complexity region
|
1017 |
1030 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196633
|
SMART Domains |
Protein: ENSMUSP00000143423 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
6.3e-12 |
SMART |
|
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: ENSMUST00000196843
|
SMART Domains |
Protein: ENSMUSP00000143459 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
514 |
546 |
4e-22 |
PFAM |
low complexity region
|
554 |
589 |
N/A |
INTRINSIC |
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
low complexity region
|
714 |
745 |
N/A |
INTRINSIC |
low complexity region
|
748 |
804 |
N/A |
INTRINSIC |
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
low complexity region
|
893 |
916 |
N/A |
INTRINSIC |
low complexity region
|
1038 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1087 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197903
|
SMART Domains |
Protein: ENSMUSP00000143519 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
PDB:1WJ7|A
|
31 |
81 |
7e-32 |
PDB |
Blast:UBA
|
50 |
81 |
7e-16 |
BLAST |
SCOP:d1efub3
|
51 |
81 |
3e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195995
|
SMART Domains |
Protein: ENSMUSP00000143638 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
148 |
N/A |
INTRINSIC |
low complexity region
|
173 |
201 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
low complexity region
|
470 |
495 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
526 |
557 |
3.7e-18 |
PFAM |
low complexity region
|
565 |
600 |
N/A |
INTRINSIC |
low complexity region
|
676 |
686 |
N/A |
INTRINSIC |
low complexity region
|
725 |
756 |
N/A |
INTRINSIC |
low complexity region
|
759 |
815 |
N/A |
INTRINSIC |
low complexity region
|
819 |
833 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199929
|
SMART Domains |
Protein: ENSMUSP00000142488 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
PDB:1WJ7|A
|
31 |
57 |
2e-12 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199834
|
SMART Domains |
Protein: ENSMUSP00000143254 Gene: ENSMUSG00000042520
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
UBA
|
50 |
88 |
1.31e-9 |
SMART |
low complexity region
|
124 |
148 |
N/A |
INTRINSIC |
low complexity region
|
173 |
201 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
low complexity region
|
470 |
495 |
N/A |
INTRINSIC |
Pfam:DUF3697
|
525 |
557 |
3.6e-22 |
PFAM |
low complexity region
|
565 |
600 |
N/A |
INTRINSIC |
low complexity region
|
676 |
686 |
N/A |
INTRINSIC |
low complexity region
|
725 |
756 |
N/A |
INTRINSIC |
low complexity region
|
759 |
815 |
N/A |
INTRINSIC |
low complexity region
|
819 |
833 |
N/A |
INTRINSIC |
low complexity region
|
904 |
927 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
A |
G |
8: 117,697,896 (GRCm39) |
S404P |
probably damaging |
Het |
Atxn2l |
T |
A |
7: 126,102,411 (GRCm39) |
|
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,793,680 (GRCm39) |
F89S |
probably damaging |
Het |
Ccdc168 |
A |
T |
1: 44,095,168 (GRCm39) |
S1977T |
probably benign |
Het |
Ccr1l1 |
C |
A |
9: 123,778,172 (GRCm39) |
V92F |
possibly damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Chrne |
T |
C |
11: 70,509,323 (GRCm39) |
N86S |
probably damaging |
Het |
Copg2 |
CCTCATC |
CC |
6: 30,789,757 (GRCm39) |
|
probably null |
Het |
Elapor2 |
A |
G |
5: 9,529,206 (GRCm39) |
D221G |
probably damaging |
Het |
Eps8l2 |
T |
C |
7: 140,921,984 (GRCm39) |
S21P |
probably benign |
Het |
Glb1 |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
9: 114,302,873 (GRCm39) |
|
probably benign |
Het |
Gngt2 |
A |
G |
11: 95,728,071 (GRCm39) |
|
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,981,956 (GRCm39) |
E135V |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,270,293 (GRCm39) |
A1177T |
probably benign |
Het |
Itga10 |
T |
C |
3: 96,557,773 (GRCm39) |
V272A |
probably damaging |
Het |
Kif17 |
A |
G |
4: 138,015,682 (GRCm39) |
I418M |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,918,075 (GRCm39) |
|
probably null |
Het |
Lamc1 |
C |
T |
1: 153,124,888 (GRCm39) |
A628T |
probably benign |
Het |
Mag |
A |
T |
7: 30,608,412 (GRCm39) |
L234* |
probably null |
Het |
Muc5ac |
T |
A |
7: 141,366,084 (GRCm39) |
V2080E |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,871,724 (GRCm39) |
D2119G |
probably benign |
Het |
Ncam1 |
C |
T |
9: 49,709,981 (GRCm39) |
A17T |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,322,702 (GRCm39) |
Y2570H |
probably damaging |
Het |
Oasl2 |
T |
C |
5: 115,044,861 (GRCm39) |
V129A |
probably damaging |
Het |
Or14a257 |
T |
A |
7: 86,137,778 (GRCm39) |
H327L |
probably benign |
Het |
Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
Podn |
A |
T |
4: 107,879,730 (GRCm39) |
L85Q |
probably damaging |
Het |
Ppp1r12c |
A |
T |
7: 4,485,805 (GRCm39) |
D680E |
possibly damaging |
Het |
Prdm14 |
G |
A |
1: 13,192,684 (GRCm39) |
L352F |
probably damaging |
Het |
Prob1 |
G |
T |
18: 35,787,790 (GRCm39) |
Q155K |
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,069,215 (GRCm39) |
L737S |
possibly damaging |
Het |
Stard5 |
A |
G |
7: 83,282,366 (GRCm39) |
T60A |
probably benign |
Het |
Syt7 |
A |
G |
19: 10,416,744 (GRCm39) |
K402E |
probably damaging |
Het |
Tll2 |
T |
A |
19: 41,171,714 (GRCm39) |
D69V |
probably damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,957 (GRCm39) |
F258S |
probably benign |
Het |
Zfp759 |
T |
A |
13: 67,284,812 (GRCm39) |
Y19N |
possibly 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 |
R2299:4933434E20Rik
|
UTSW |
3 |
89,971,845 (GRCm39) |
missense |
possibly damaging |
0.88 |
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'- ATATGCTCTGTCCCCTTTACAAC -3'
(R):5'- GGCATCTAGAGCTTTCATTCTGT -3'
Sequencing Primer
(F):5'- CCCCTTTACAACTTGTTGGGAAACAG -3'
(R):5'- AGACTAGTCTTAGTGATCACTTGC -3'
|
Posted On |
2014-10-02 |