Incidental Mutation 'R2966:2610021A01Rik'
| ID |
264659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2610021A01Rik
|
| Ensembl Gene |
ENSMUSG00000091474 |
| Gene Name |
RIKEN cDNA 2610021A01 gene |
| Synonyms |
|
| MMRRC Submission |
040522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2966 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41248654-41277957 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 41275829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 511
(R511*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163475]
|
| AlphaFold |
E9Q0Q3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000163475
AA Change: R511*
|
| SMART Domains |
Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: R511*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
18 |
78 |
1.32e-32 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
555 |
577 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
611 |
633 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
639 |
661 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
667 |
689 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
695 |
717 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
723 |
745 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
751 |
773 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
779 |
801 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
807 |
829 |
7.37e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206757
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,593,662 (GRCm39) |
V691A |
possibly damaging |
Het |
| Add1 |
C |
A |
5: 34,788,058 (GRCm39) |
D702E |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
| Atp11a |
A |
T |
8: 12,897,853 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,805,049 (GRCm39) |
D1022G |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Bnc2 |
G |
A |
4: 84,211,754 (GRCm39) |
A300V |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,836,798 (GRCm39) |
K2256E |
probably benign |
Het |
| Cfap300 |
C |
T |
9: 8,027,175 (GRCm39) |
R121Q |
probably damaging |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col2a1 |
A |
G |
15: 97,873,976 (GRCm39) |
I1402T |
unknown |
Het |
| Ddx43 |
C |
A |
9: 78,313,661 (GRCm39) |
Y197* |
probably null |
Het |
| Dyrk2 |
T |
A |
10: 118,696,242 (GRCm39) |
K339* |
probably null |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,880,056 (GRCm39) |
F303L |
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
| Gabra5 |
T |
C |
7: 57,058,389 (GRCm39) |
E453G |
probably damaging |
Het |
| Gatd1 |
T |
A |
7: 140,989,080 (GRCm39) |
D193V |
probably damaging |
Het |
| Gm6871 |
T |
G |
7: 41,222,864 (GRCm39) |
T75P |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Has2 |
A |
G |
15: 56,545,533 (GRCm39) |
L23P |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,745,154 (GRCm39) |
V1807A |
possibly damaging |
Het |
| Myh1 |
A |
G |
11: 67,105,410 (GRCm39) |
K1067E |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,191 (GRCm39) |
E483G |
possibly damaging |
Het |
| Nsd2 |
G |
C |
5: 34,003,466 (GRCm39) |
E205D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,731,164 (GRCm39) |
L3222P |
unknown |
Het |
| Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,637,635 (GRCm39) |
D135G |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rab21 |
T |
C |
10: 115,130,814 (GRCm39) |
N164S |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
| Rbm15b |
A |
G |
9: 106,762,791 (GRCm39) |
L459P |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,309,313 (GRCm39) |
V586A |
probably benign |
Het |
| Rprd2 |
A |
T |
3: 95,673,745 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
A |
3: 72,796,343 (GRCm39) |
I1813L |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,764,469 (GRCm39) |
V58A |
probably damaging |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,341,073 (GRCm39) |
V358M |
probably damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,781,715 (GRCm39) |
I201S |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
Het |
|
| Other mutations in 2610021A01Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:2610021A01Rik
|
APN |
7 |
41,274,996 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL00566:2610021A01Rik
|
APN |
7 |
41,274,815 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0940:2610021A01Rik
|
UTSW |
7 |
41,275,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:2610021A01Rik
|
UTSW |
7 |
41,276,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1180:2610021A01Rik
|
UTSW |
7 |
41,275,141 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1560:2610021A01Rik
|
UTSW |
7 |
41,275,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1740:2610021A01Rik
|
UTSW |
7 |
41,275,549 (GRCm39) |
nonsense |
probably null |
|
|
R1988:2610021A01Rik
|
UTSW |
7 |
41,276,081 (GRCm39) |
nonsense |
probably null |
|
|
R2041:2610021A01Rik
|
UTSW |
7 |
41,275,403 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2964:2610021A01Rik
|
UTSW |
7 |
41,275,829 (GRCm39) |
nonsense |
probably null |
|
|
R2965:2610021A01Rik
|
UTSW |
7 |
41,275,829 (GRCm39) |
nonsense |
probably null |
|
|
R4002:2610021A01Rik
|
UTSW |
7 |
41,274,964 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4569:2610021A01Rik
|
UTSW |
7 |
41,275,262 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4708:2610021A01Rik
|
UTSW |
7 |
41,261,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:2610021A01Rik
|
UTSW |
7 |
41,276,529 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4933:2610021A01Rik
|
UTSW |
7 |
41,276,226 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5036:2610021A01Rik
|
UTSW |
7 |
41,275,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5206:2610021A01Rik
|
UTSW |
7 |
41,276,009 (GRCm39) |
nonsense |
probably null |
|
|
R5235:2610021A01Rik
|
UTSW |
7 |
41,274,256 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6449:2610021A01Rik
|
UTSW |
7 |
41,275,298 (GRCm39) |
nonsense |
probably null |
|
|
R6488:2610021A01Rik
|
UTSW |
7 |
41,275,298 (GRCm39) |
nonsense |
probably null |
|
|
R6904:2610021A01Rik
|
UTSW |
7 |
41,275,516 (GRCm39) |
nonsense |
probably null |
|
|
R7058:2610021A01Rik
|
UTSW |
7 |
41,275,554 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7157:2610021A01Rik
|
UTSW |
7 |
41,276,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:2610021A01Rik
|
UTSW |
7 |
41,275,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:2610021A01Rik
|
UTSW |
7 |
41,276,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7648:2610021A01Rik
|
UTSW |
7 |
41,261,886 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7785:2610021A01Rik
|
UTSW |
7 |
41,262,617 (GRCm39) |
missense |
probably benign |
|
|
R8153:2610021A01Rik
|
UTSW |
7 |
41,275,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8199:2610021A01Rik
|
UTSW |
7 |
41,275,304 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8943:2610021A01Rik
|
UTSW |
7 |
41,275,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9052:2610021A01Rik
|
UTSW |
7 |
41,275,449 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9071:2610021A01Rik
|
UTSW |
7 |
41,274,783 (GRCm39) |
missense |
probably benign |
|
|
R9169:2610021A01Rik
|
UTSW |
7 |
41,261,109 (GRCm39) |
start gained |
probably benign |
|
|
R9209:2610021A01Rik
|
UTSW |
7 |
41,275,837 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9281:2610021A01Rik
|
UTSW |
7 |
41,274,184 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9530:2610021A01Rik
|
UTSW |
7 |
41,274,165 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9612:2610021A01Rik
|
UTSW |
7 |
41,276,327 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
X0067:2610021A01Rik
|
UTSW |
7 |
41,276,741 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:2610021A01Rik
|
UTSW |
7 |
41,274,766 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTCAACCTGGAGGAACG -3'
(R):5'- GATTTAAGAGTTGAGCCCTCGG -3'
Sequencing Primer
(F):5'- TCTCAGTTCTCAGGCTACAGAGAG -3'
(R):5'- GCAAAAGACCTGCCACATTCTTTAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation