Incidental Mutation 'R1101:2610021A01Rik'
ID |
98087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2610021A01Rik
|
Ensembl Gene |
ENSMUSG00000091474 |
Gene Name |
RIKEN cDNA 2610021A01 gene |
Synonyms |
|
MMRRC Submission |
039174-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R1101 (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 41276783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 829
(H829N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163475]
|
AlphaFold |
E9Q0Q3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163475
AA Change: H829N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127760 Gene: ENSMUSG00000091474 AA Change: H829N
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: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Abi3bp |
G |
T |
16: 56,426,521 (GRCm39) |
R512L |
probably damaging |
Het |
Acot2 |
T |
G |
12: 84,039,624 (GRCm39) |
S378A |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,096,205 (GRCm39) |
I2360T |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,989,625 (GRCm39) |
D155G |
probably benign |
Het |
Bsn |
A |
G |
9: 107,993,610 (GRCm39) |
V714A |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,587,585 (GRCm39) |
V170I |
possibly damaging |
Het |
Clcn2 |
G |
A |
16: 20,522,345 (GRCm39) |
T787I |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,864,599 (GRCm39) |
H131R |
probably damaging |
Het |
Dct |
T |
G |
14: 118,274,034 (GRCm39) |
D291A |
probably damaging |
Het |
Dhx37 |
A |
G |
5: 125,492,216 (GRCm39) |
Y1128H |
probably damaging |
Het |
Dip2c |
A |
T |
13: 9,684,780 (GRCm39) |
I1174F |
probably damaging |
Het |
Eif3l |
A |
G |
15: 78,959,467 (GRCm39) |
Y3C |
probably damaging |
Het |
Enpp5 |
A |
G |
17: 44,392,258 (GRCm39) |
N229S |
possibly damaging |
Het |
Fam83b |
A |
T |
9: 76,452,952 (GRCm39) |
H38Q |
possibly damaging |
Het |
Fcamr |
T |
A |
1: 130,742,223 (GRCm39) |
|
probably null |
Het |
Hdac2 |
G |
A |
10: 36,867,805 (GRCm39) |
V184I |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,981,700 (GRCm39) |
L5Q |
probably damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Ireb2 |
T |
A |
9: 54,816,986 (GRCm39) |
H951Q |
probably benign |
Het |
Lman1 |
T |
A |
18: 66,120,969 (GRCm39) |
M418L |
probably benign |
Het |
Lrrfip2 |
C |
T |
9: 111,019,293 (GRCm39) |
R275W |
probably damaging |
Het |
Mast3 |
T |
A |
8: 71,239,307 (GRCm39) |
I424F |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,802,584 (GRCm39) |
D147G |
probably benign |
Het |
Mtr |
C |
A |
13: 12,204,411 (GRCm39) |
E1128D |
possibly damaging |
Het |
Ogfod1 |
C |
A |
8: 94,790,932 (GRCm39) |
S534R |
probably benign |
Het |
Or4c107 |
A |
T |
2: 88,789,328 (GRCm39) |
I173F |
possibly damaging |
Het |
Or4k42 |
T |
C |
2: 111,319,787 (GRCm39) |
T239A |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,617,615 (GRCm39) |
V198A |
probably benign |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,707,828 (GRCm39) |
D882V |
probably damaging |
Het |
Pik3cg |
C |
T |
12: 32,245,645 (GRCm39) |
G868S |
probably null |
Het |
Plppr5 |
T |
G |
3: 117,456,172 (GRCm39) |
M231R |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,638,897 (GRCm39) |
T46A |
probably benign |
Het |
Ppp4r3a |
C |
A |
12: 101,017,830 (GRCm39) |
R440L |
probably damaging |
Het |
Serpinb9e |
A |
T |
13: 33,444,071 (GRCm39) |
T364S |
probably benign |
Het |
Sirt3 |
A |
G |
7: 140,449,541 (GRCm39) |
V135A |
possibly damaging |
Het |
Supt16 |
T |
C |
14: 52,408,896 (GRCm39) |
N826S |
probably null |
Het |
Tbr1 |
T |
C |
2: 61,635,083 (GRCm39) |
I11T |
probably benign |
Het |
Trim72 |
A |
G |
7: 127,609,419 (GRCm39) |
E407G |
possibly damaging |
Het |
Vps72 |
C |
A |
3: 95,026,487 (GRCm39) |
T144K |
probably damaging |
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 |
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 |
|
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 |
|
Posted On |
2014-01-05 |