Incidental Mutation 'R5235:2610021A01Rik'
ID |
486778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2610021A01Rik
|
Ensembl Gene |
ENSMUSG00000091474 |
Gene Name |
RIKEN cDNA 2610021A01 gene |
Synonyms |
|
MMRRC Submission |
042807-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5235 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
41248654-41277957 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 41274256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 126
(H126Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163475]
|
AlphaFold |
E9Q0Q3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163475
AA Change: H126Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127760 Gene: ENSMUSG00000091474 AA Change: H126Q
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Aga |
A |
G |
8: 53,967,361 (GRCm39) |
H124R |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,572,212 (GRCm39) |
G49R |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,096,714 (GRCm39) |
V270L |
possibly damaging |
Het |
Arfrp1 |
T |
C |
2: 181,001,298 (GRCm39) |
H145R |
probably benign |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atg3 |
A |
G |
16: 44,979,520 (GRCm39) |
T20A |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,881 (GRCm39) |
L112P |
probably damaging |
Het |
Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,492,674 (GRCm39) |
T3156A |
probably benign |
Het |
Dag1 |
T |
C |
9: 108,084,897 (GRCm39) |
Y748C |
probably damaging |
Het |
Dek |
A |
T |
13: 47,239,955 (GRCm39) |
|
probably null |
Het |
Fras1 |
G |
A |
5: 96,748,609 (GRCm39) |
V695M |
probably benign |
Het |
Gpx7 |
A |
G |
4: 108,258,189 (GRCm39) |
S135P |
probably damaging |
Het |
Ido2 |
A |
T |
8: 25,037,202 (GRCm39) |
I168N |
probably damaging |
Het |
Lca5 |
A |
T |
9: 83,305,107 (GRCm39) |
L233* |
probably null |
Het |
Liph |
A |
C |
16: 21,802,785 (GRCm39) |
L95V |
probably damaging |
Het |
Mast1 |
A |
T |
8: 85,640,068 (GRCm39) |
L1113Q |
probably damaging |
Het |
Nlrx1 |
C |
T |
9: 44,175,047 (GRCm39) |
G243D |
probably damaging |
Het |
Or4ac1-ps1 |
G |
A |
2: 88,370,769 (GRCm39) |
|
noncoding transcript |
Het |
Or5d40 |
T |
A |
2: 88,015,912 (GRCm39) |
D230E |
probably benign |
Het |
Otoa |
T |
C |
7: 120,755,693 (GRCm39) |
L1033P |
probably damaging |
Het |
Ovol3 |
A |
T |
7: 29,932,899 (GRCm39) |
Y179N |
possibly damaging |
Het |
Papss2 |
A |
G |
19: 32,616,619 (GRCm39) |
N215S |
probably benign |
Het |
Pcdhga8 |
T |
C |
18: 37,860,488 (GRCm39) |
Y515H |
probably damaging |
Het |
Phlda1 |
CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC |
CCAGCCCCAACCTCAGCCCCAACC |
10: 111,343,252 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
T |
2: 65,582,355 (GRCm39) |
N1568Y |
probably damaging |
Het |
Sec16b |
A |
T |
1: 157,362,334 (GRCm39) |
I251F |
probably benign |
Het |
Slc29a4 |
T |
A |
5: 142,704,523 (GRCm39) |
I355N |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,231,110 (GRCm39) |
C39F |
possibly damaging |
Het |
Spata16 |
A |
G |
3: 26,721,781 (GRCm39) |
M101V |
probably benign |
Het |
Stat2 |
T |
C |
10: 128,126,901 (GRCm39) |
|
probably null |
Het |
Tdpoz8 |
A |
G |
3: 92,981,393 (GRCm39) |
D137G |
probably damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Tpm3 |
A |
G |
3: 89,993,802 (GRCm39) |
E97G |
probably damaging |
Het |
Ugt8a |
A |
C |
3: 125,661,129 (GRCm39) |
H454Q |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,169,013 (GRCm39) |
I706L |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 101,994,972 (GRCm39) |
I3256V |
probably null |
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 |
|
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'- TCTTGGCACAGTCCTTGTAG -3'
(R):5'- TTTCCTAAAAGAGCCTCCCGC -3'
Sequencing Primer
(F):5'- CACAGTCCTTGTAGTGGTGTGC -3'
(R):5'- TCCCGCTGTGAATGTGGAC -3'
|
Posted On |
2017-08-17 |