Incidental Mutation 'R4541:2810021J22Rik'
| ID |
333541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2810021J22Rik
|
| Ensembl Gene |
ENSMUSG00000020491 |
| Gene Name |
RIKEN cDNA 2810021J22 gene |
| Synonyms |
|
| MMRRC Submission |
041777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58758042-58774114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58769676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 73
(P73S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073924]
[ENSMUST00000132570]
|
| AlphaFold |
Q8BIB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073924
AA Change: P73S
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073579
Gene: ENSMUSG00000020491
AA Change: P73S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
2.38e-30 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
1.68e1 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
7.78e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132570
|
| SMART Domains |
Protein: ENSMUSP00000120692
Gene: ENSMUSG00000020491
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
64 |
2.25e-17 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
G |
A |
7: 124,917,750 (GRCm39) |
|
noncoding transcript |
Het |
| Acot4 |
A |
T |
12: 84,090,022 (GRCm39) |
I240F |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,878,496 (GRCm39) |
V10A |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccnb3 |
T |
C |
X: 6,875,308 (GRCm39) |
T424A |
probably benign |
Het |
| Cd8a |
A |
T |
6: 71,350,856 (GRCm39) |
D107V |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Ceacam12 |
G |
A |
7: 17,805,648 (GRCm39) |
M278I |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,736,454 (GRCm39) |
V1346I |
probably benign |
Het |
| Clic5 |
C |
T |
17: 44,552,956 (GRCm39) |
T70M |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,934 (GRCm39) |
|
noncoding transcript |
Het |
| Ddhd1 |
G |
A |
14: 45,860,313 (GRCm39) |
R140* |
probably null |
Het |
| Evpl |
T |
G |
11: 116,123,470 (GRCm39) |
I301L |
probably benign |
Het |
| Glul |
T |
A |
1: 153,778,782 (GRCm39) |
Y30* |
probably null |
Het |
| Itgad |
A |
T |
7: 127,797,287 (GRCm39) |
H878L |
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,402,536 (GRCm39) |
I301T |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,687,696 (GRCm39) |
Y575* |
probably null |
Het |
| Mrps2 |
G |
T |
2: 28,358,412 (GRCm39) |
|
probably benign |
Het |
| Mymx |
GCC |
GC |
17: 45,912,519 (GRCm39) |
|
probably null |
Het |
| Napb |
G |
A |
2: 148,551,229 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,171,706 (GRCm39) |
|
noncoding transcript |
Het |
| Or10g9b |
A |
C |
9: 39,917,589 (GRCm39) |
S219A |
possibly damaging |
Het |
| Or4f15 |
A |
G |
2: 111,813,981 (GRCm39) |
I146T |
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,629,612 (GRCm39) |
M438I |
probably damaging |
Het |
| Pla2r1 |
C |
T |
2: 60,258,082 (GRCm39) |
D1199N |
probably damaging |
Het |
| Pmpca |
T |
G |
2: 26,280,201 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
G |
T |
2: 11,288,623 (GRCm39) |
M525I |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,520 (GRCm39) |
|
probably null |
Het |
| Sco1 |
G |
T |
11: 66,943,668 (GRCm39) |
A50S |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,046,037 (GRCm39) |
|
probably null |
Het |
| Slc36a1 |
T |
C |
11: 55,112,849 (GRCm39) |
V148A |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,239,473 (GRCm39) |
R96S |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,222 (GRCm39) |
I919N |
probably damaging |
Het |
| Tcea1 |
T |
C |
1: 4,963,659 (GRCm39) |
L233P |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,884 (GRCm39) |
M1T |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,224 (GRCm39) |
T223A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,896,719 (GRCm39) |
Y243H |
probably benign |
Het |
| Tubgcp4 |
A |
T |
2: 121,025,907 (GRCm39) |
N584I |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,216,192 (GRCm39) |
C7R |
probably damaging |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,533 (GRCm39) |
M12K |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,490,881 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
G |
7: 27,625,829 (GRCm39) |
V14L |
probably damaging |
Het |
|
| Other mutations in 2810021J22Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:2810021J22Rik
|
APN |
11 |
58,771,438 (GRCm39) |
nonsense |
probably null |
|
|
IGL01784:2810021J22Rik
|
APN |
11 |
58,771,445 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02287:2810021J22Rik
|
APN |
11 |
58,771,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03281:2810021J22Rik
|
APN |
11 |
58,771,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
H8562:2810021J22Rik
|
UTSW |
11 |
58,771,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:2810021J22Rik
|
UTSW |
11 |
58,771,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1148:2810021J22Rik
|
UTSW |
11 |
58,767,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1148:2810021J22Rik
|
UTSW |
11 |
58,767,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1493:2810021J22Rik
|
UTSW |
11 |
58,767,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1565:2810021J22Rik
|
UTSW |
11 |
58,771,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1676:2810021J22Rik
|
UTSW |
11 |
58,771,819 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2070:2810021J22Rik
|
UTSW |
11 |
58,767,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2071:2810021J22Rik
|
UTSW |
11 |
58,767,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4402:2810021J22Rik
|
UTSW |
11 |
58,771,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4685:2810021J22Rik
|
UTSW |
11 |
58,771,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4765:2810021J22Rik
|
UTSW |
11 |
58,771,987 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4968:2810021J22Rik
|
UTSW |
11 |
58,769,616 (GRCm39) |
nonsense |
probably null |
|
|
R5282:2810021J22Rik
|
UTSW |
11 |
58,771,166 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5519:2810021J22Rik
|
UTSW |
11 |
58,770,923 (GRCm39) |
missense |
probably benign |
|
|
R6083:2810021J22Rik
|
UTSW |
11 |
58,769,677 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6134:2810021J22Rik
|
UTSW |
11 |
58,767,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:2810021J22Rik
|
UTSW |
11 |
58,770,940 (GRCm39) |
missense |
probably benign |
|
|
R7108:2810021J22Rik
|
UTSW |
11 |
58,771,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7288:2810021J22Rik
|
UTSW |
11 |
58,771,131 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7310:2810021J22Rik
|
UTSW |
11 |
58,771,094 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7422:2810021J22Rik
|
UTSW |
11 |
58,771,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:2810021J22Rik
|
UTSW |
11 |
58,770,823 (GRCm39) |
missense |
not run |
|
|
R8237:2810021J22Rik
|
UTSW |
11 |
58,771,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:2810021J22Rik
|
UTSW |
11 |
58,770,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9453:2810021J22Rik
|
UTSW |
11 |
58,771,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:2810021J22Rik
|
UTSW |
11 |
58,770,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAATGCCACGTTCTCATAGAGTG -3'
(R):5'- TTGCTGAGCCTGTGGAAGTAC -3'
Sequencing Primer
(F):5'- GTTCATATTGGTCCTATCACTGAGAG -3'
(R):5'- GGACAATGAGAGCTTCCCTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation