Incidental Mutation 'R6904:2610021A01Rik'
| ID |
538682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2610021A01Rik
|
| Ensembl Gene |
ENSMUSG00000091474 |
| Gene Name |
RIKEN cDNA 2610021A01 gene |
| Synonyms |
|
| MMRRC Submission |
045033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6904 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41248654-41277957 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 41275516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 406
(Y406*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163475]
|
| AlphaFold |
E9Q0Q3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000163475
AA Change: Y406*
|
| SMART Domains |
Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: Y406*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,905,159 (GRCm39) |
D109G |
probably benign |
Het |
| Adam24 |
G |
A |
8: 41,134,542 (GRCm39) |
G670E |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,323,136 (GRCm39) |
M378V |
probably benign |
Het |
| Ankrd33 |
G |
A |
15: 101,014,993 (GRCm39) |
|
probably null |
Het |
| Apol7b |
G |
A |
15: 77,307,625 (GRCm39) |
T290I |
probably benign |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,180 (GRCm39) |
W54R |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,663,069 (GRCm39) |
|
probably null |
Het |
| Bmp7 |
A |
G |
2: 172,714,706 (GRCm39) |
S368P |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,312,154 (GRCm39) |
V636A |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,259,002 (GRCm39) |
R1237H |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,980 (GRCm39) |
D697G |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,225,194 (GRCm39) |
T132A |
probably benign |
Het |
| Ces1b |
T |
A |
8: 93,787,038 (GRCm39) |
Y447F |
probably damaging |
Het |
| Cfhr4 |
T |
G |
1: 139,659,391 (GRCm39) |
N642H |
possibly damaging |
Het |
| Cntn4 |
A |
T |
6: 106,674,544 (GRCm39) |
T1015S |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,838,741 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,684,828 (GRCm39) |
N262K |
possibly damaging |
Het |
| Jmjd8 |
G |
A |
17: 26,048,026 (GRCm39) |
R41H |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,178,259 (GRCm39) |
T344S |
probably damaging |
Het |
| Krt39 |
T |
C |
11: 99,410,647 (GRCm39) |
D175G |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,686,227 (GRCm39) |
Y81C |
probably damaging |
Het |
| Mpdu1 |
T |
A |
11: 69,549,411 (GRCm39) |
T95S |
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,135 (GRCm39) |
I31N |
probably damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,700 (GRCm39) |
Y195* |
probably null |
Het |
| Or4c119 |
G |
A |
2: 88,987,157 (GRCm39) |
R121C |
possibly damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,652 (GRCm39) |
I45V |
probably benign |
Het |
| Or51v15-ps1 |
A |
T |
7: 103,278,790 (GRCm39) |
F126I |
probably benign |
Het |
| Or52z12 |
T |
A |
7: 103,233,727 (GRCm39) |
I166N |
possibly damaging |
Het |
| Or5w17 |
A |
G |
2: 87,584,223 (GRCm39) |
V38A |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,431 (GRCm39) |
I259F |
possibly damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,970 (GRCm39) |
D321E |
probably benign |
Het |
| Pi4kb |
G |
T |
3: 94,900,461 (GRCm39) |
R392L |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,767,291 (GRCm39) |
C180Y |
possibly damaging |
Het |
| Prss41 |
T |
C |
17: 24,056,622 (GRCm39) |
K151R |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,697,477 (GRCm39) |
V658D |
probably benign |
Het |
| Snx4 |
A |
G |
16: 33,115,108 (GRCm39) |
I430V |
probably damaging |
Het |
| Tanc2 |
C |
T |
11: 105,726,056 (GRCm39) |
H407Y |
possibly damaging |
Het |
| Tcf25 |
G |
A |
8: 124,127,437 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
A |
T |
14: 76,743,923 (GRCm39) |
K24* |
probably null |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,323 (GRCm39) |
T319A |
probably benign |
Het |
| Zbtb1 |
C |
T |
12: 76,432,985 (GRCm39) |
R324* |
probably null |
Het |
| Zc3h7a |
A |
G |
16: 10,963,535 (GRCm39) |
Y729H |
probably damaging |
Het |
| Zfp329 |
C |
A |
7: 12,540,457 (GRCm39) |
|
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,514,384 (GRCm39) |
S441T |
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 |
|
|
R2966:2610021A01Rik
|
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 |
|
|
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'- CCTTCGAAACTTGTTGGGCATC -3'
(R):5'- GCCTTGCCACAATCTGTACATTTG -3'
Sequencing Primer
(F):5'- AAACTTGTTGGGCATCCGAGATTC -3'
(R):5'- GTAAGGTTTCTCTCCAGTATGAAGCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation