Incidental Mutation 'R9530:2610021A01Rik'
| ID |
719439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2610021A01Rik
|
| Ensembl Gene |
ENSMUSG00000091474 |
| Gene Name |
RIKEN cDNA 2610021A01 gene |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R9530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41248654-41277957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41274165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 96
(N96S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163475]
|
| AlphaFold |
E9Q0Q3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163475
AA Change: N96S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: N96S
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
C |
T |
11: 54,220,783 (GRCm39) |
T301I |
probably damaging |
Het |
| Ankrd7 |
C |
A |
6: 18,868,258 (GRCm39) |
Q127K |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,064,612 (GRCm39) |
M155V |
probably benign |
Het |
| Appbp2 |
A |
C |
11: 85,107,306 (GRCm39) |
C61W |
probably damaging |
Het |
| Atosb |
C |
T |
4: 43,034,753 (GRCm39) |
R322Q |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Cd163 |
G |
T |
6: 124,294,491 (GRCm39) |
E550* |
probably null |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,848,311 (GRCm39) |
S304P |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,175,411 (GRCm39) |
I922T |
possibly damaging |
Het |
| Erbb3 |
T |
C |
10: 128,410,291 (GRCm39) |
I656V |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,248,910 (GRCm39) |
I1363K |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,963,069 (GRCm39) |
V201A |
probably benign |
Het |
| Heatr1 |
G |
A |
13: 12,439,607 (GRCm39) |
R1395H |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,126,382 (GRCm39) |
I578T |
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,602,899 (GRCm39) |
L526* |
probably null |
Het |
| Ighv5-9 |
A |
G |
12: 113,625,677 (GRCm39) |
M22T |
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,591,808 (GRCm39) |
E17G |
possibly damaging |
Het |
| Mast2 |
A |
C |
4: 116,169,535 (GRCm39) |
L766R |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,030,124 (GRCm39) |
V420M |
probably benign |
Het |
| Met |
T |
C |
6: 17,558,831 (GRCm39) |
V1153A |
probably damaging |
Het |
| Mrpl21 |
T |
A |
19: 3,340,998 (GRCm39) |
I196N |
possibly damaging |
Het |
| Or7g21 |
G |
A |
9: 19,033,051 (GRCm39) |
V264I |
probably benign |
Het |
| Polrmt |
C |
T |
10: 79,574,545 (GRCm39) |
A883T |
probably benign |
Het |
| Prkcg |
G |
A |
7: 3,375,965 (GRCm39) |
D537N |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,579,655 (GRCm39) |
D452E |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,879,269 (GRCm39) |
D585G |
probably null |
Het |
| St18 |
T |
A |
1: 6,872,997 (GRCm39) |
I244N |
probably benign |
Het |
| Stat1 |
T |
A |
1: 52,187,160 (GRCm39) |
|
probably null |
Het |
| Stk39 |
A |
G |
2: 68,198,755 (GRCm39) |
Y288H |
probably damaging |
Het |
| Tas2r140 |
G |
A |
6: 133,032,494 (GRCm39) |
S88F |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,072,507 (GRCm39) |
E308G |
probably damaging |
Het |
| Tcf7l1 |
T |
C |
6: 72,604,687 (GRCm39) |
T486A |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,817 (GRCm39) |
T42A |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
| Triobp |
G |
C |
15: 78,886,321 (GRCm39) |
G1867R |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,104 (GRCm39) |
H6R |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,562 (GRCm39) |
I7N |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,639 (GRCm39) |
S294T |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,340,633 (GRCm39) |
V197A |
probably benign |
Het |
| Zcchc4 |
CAGAG |
CAG |
5: 52,953,568 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,527,010 (GRCm39) |
E969G |
probably damaging |
Het |
| Zfp112 |
G |
T |
7: 23,824,665 (GRCm39) |
C215F |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,514 (GRCm39) |
L145Q |
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 |
|
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 |
|
|
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 |
|
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'- ACACTTGTTTCCTGACAGCAG -3'
(R):5'- CCAGAGTGAACTGTGTGAGG -3'
Sequencing Primer
(F):5'- CTTGTTTCCTGACAGCAGAAGAGC -3'
(R):5'- CCTGTCAGGAATGTCAGCAGTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation