Incidental Mutation 'R7288:2810021J22Rik'
ID566177
Institutional Source Beutler Lab
Gene Symbol 2810021J22Rik
Ensembl Gene ENSMUSG00000020491
Gene NameRIKEN cDNA 2810021J22 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R7288 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location58867216-58883288 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58880305 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 204 (D204E)
Ref Sequence ENSEMBL: ENSMUSP00000073579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073924] [ENSMUST00000132570]
Predicted Effect probably benign
Transcript: ENSMUST00000073924
AA Change: D204E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073579
Gene: ENSMUSG00000020491
AA Change: D204E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
KRAB 8 64 2.25e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 T G 3: 138,282,732 D155E probably benign Het
Akt1s1 T C 7: 44,849,147 L2P unknown Het
Ash1l T A 3: 88,965,892 probably benign Het
Bend7 C T 2: 4,752,830 P228S probably damaging Het
Bpifc T C 10: 85,988,721 E218G possibly damaging Het
Cdk6 T A 5: 3,429,001 F127Y probably benign Het
Cgnl1 A T 9: 71,725,564 H168Q possibly damaging Het
Chd7 C T 4: 8,847,093 T1612I possibly damaging Het
Col4a4 A T 1: 82,492,463 C782S unknown Het
Copg2 T A 6: 30,824,406 I364L probably damaging Het
Crygb A G 1: 65,081,925 L81P probably benign Het
Cyp4f18 A T 8: 71,993,173 M326K probably damaging Het
Dhx34 A G 7: 16,215,436 S356P probably benign Het
Dmbt1 C T 7: 131,083,789 Q855* probably null Het
Dnph1 A G 17: 46,499,012 N160S probably benign Het
Esrra A T 19: 6,912,771 C228* probably null Het
Evpl T C 11: 116,223,949 N972D probably benign Het
Fat3 T C 9: 15,998,592 D2038G probably damaging Het
Fhit T A 14: 9,763,784 R102W probably damaging Het
Gal3st1 A T 11: 3,998,609 D272V probably damaging Het
Gal3st1 T A 11: 3,998,651 V286D probably damaging Het
Gemin4 A T 11: 76,213,380 M185K possibly damaging Het
Hecw1 T C 13: 14,316,236 I311V probably benign Het
Ift172 T C 5: 31,285,286 Y179C probably damaging Het
Ighv7-3 C T 12: 114,153,343 W66* probably null Het
Iqgap3 T A 3: 88,108,835 I975N probably damaging Het
Khdrbs3 A G 15: 69,049,413 E281G possibly damaging Het
Lamb2 A T 9: 108,488,324 T1369S probably benign Het
Mettl8 A T 2: 70,982,038 D84E probably benign Het
Mrgprb3 C A 7: 48,643,311 C164F probably damaging Het
Mtg2 A G 2: 180,083,387 Y131C probably damaging Het
Nacc1 C T 8: 84,676,545 A234T probably benign Het
Nsmaf C T 4: 6,416,641 V551I probably benign Het
Olfr541 T A 7: 140,705,029 C259* probably null Het
Olfr869 T A 9: 20,137,441 Y108* probably null Het
Oxr1 C T 15: 41,813,608 P187L not run Het
Pcdhb12 T A 18: 37,436,015 D71E probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,499,669 probably null Het
Pkm A G 9: 59,668,913 S127G probably benign Het
Plxna2 T A 1: 194,796,919 L1296H probably damaging Het
Ppil6 C G 10: 41,498,528 T135R probably benign Het
Ppp2r3a T C 9: 101,127,004 Y378C probably damaging Het
Rabep2 C T 7: 126,444,205 R426C probably damaging Het
Rad21 A T 15: 51,982,580 H31Q possibly damaging Het
Rad50 G T 11: 53,654,949 Y1182* probably null Het
Serpinb9c C T 13: 33,151,900 A218T possibly damaging Het
Slc17a2 C A 13: 23,819,112 H248Q probably benign Het
Slc45a4 C A 15: 73,586,936 E255* probably null Het
Slc8a3 T A 12: 81,216,824 K596N possibly damaging Het
Tbc1d32 A C 10: 56,051,387 probably null Het
Tbl2 T A 5: 135,154,399 I112N possibly damaging Het
Tchp A C 5: 114,715,569 K238T probably damaging Het
Tfap2d G A 1: 19,118,983 G251D probably damaging Het
Thrb T A 14: 18,030,186 M324K probably damaging Het
Tmem259 A T 10: 79,978,466 L328Q probably damaging Het
Tmtc2 T C 10: 105,413,608 H88R probably damaging Het
Tnfrsf21 A G 17: 43,037,818 H107R possibly damaging Het
Trib1 T C 15: 59,654,622 V347A probably benign Het
Ung T A 5: 114,131,254 L9* probably null Het
Vmn1r195 G T 13: 22,279,004 V215F probably damaging Het
Wdr63 T C 3: 146,081,252 T343A probably damaging Het
Wdr90 A G 17: 25,846,312 S1657P probably benign Het
Wdsub1 A T 2: 59,878,143 Y129N possibly damaging Het
Zfp369 T G 13: 65,285,018 probably null Het
Zfp770 G T 2: 114,195,661 C642* probably null Het
Zfp981 C T 4: 146,537,643 R342C probably benign Het
Zhx3 A C 2: 160,781,122 V375G probably damaging Het
Other mutations in 2810021J22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:2810021J22Rik APN 11 58880612 nonsense probably null
IGL01784:2810021J22Rik APN 11 58880619 missense possibly damaging 0.89
IGL02287:2810021J22Rik APN 11 58880592 missense probably benign 0.00
IGL03281:2810021J22Rik APN 11 58880775 missense probably benign 0.01
H8562:2810021J22Rik UTSW 11 58880891 missense probably damaging 1.00
R0480:2810021J22Rik UTSW 11 58880186 missense probably damaging 0.99
R1148:2810021J22Rik UTSW 11 58876718 missense probably damaging 0.97
R1148:2810021J22Rik UTSW 11 58876718 missense probably damaging 0.97
R1493:2810021J22Rik UTSW 11 58876718 missense probably damaging 0.97
R1565:2810021J22Rik UTSW 11 58880501 missense probably benign 0.00
R1676:2810021J22Rik UTSW 11 58880993 missense possibly damaging 0.70
R2070:2810021J22Rik UTSW 11 58876769 missense probably damaging 0.98
R2071:2810021J22Rik UTSW 11 58876769 missense probably damaging 0.98
R4402:2810021J22Rik UTSW 11 58880194 missense probably benign 0.01
R4541:2810021J22Rik UTSW 11 58878850 missense probably benign 0.16
R4685:2810021J22Rik UTSW 11 58880924 missense probably damaging 0.97
R4765:2810021J22Rik UTSW 11 58881161 missense probably benign 0.09
R4968:2810021J22Rik UTSW 11 58878790 nonsense probably null
R5282:2810021J22Rik UTSW 11 58880340 missense possibly damaging 0.84
R5519:2810021J22Rik UTSW 11 58880097 missense probably benign
R6083:2810021J22Rik UTSW 11 58878851 missense possibly damaging 0.73
R6134:2810021J22Rik UTSW 11 58876793 missense probably damaging 1.00
R6334:2810021J22Rik UTSW 11 58880114 missense probably benign
R7108:2810021J22Rik UTSW 11 58880924 missense probably damaging 0.97
R7310:2810021J22Rik UTSW 11 58880268 missense possibly damaging 0.89
R7422:2810021J22Rik UTSW 11 58881059 missense probably damaging 1.00
R7829:2810021J22Rik UTSW 11 58879997 missense not run
R8237:2810021J22Rik UTSW 11 58880547 missense probably damaging 1.00
R8303:2810021J22Rik UTSW 11 58880140 missense probably benign 0.00
Z1177:2810021J22Rik UTSW 11 58880103 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAATGAGATCTGAGGTGCTTG -3'
(R):5'- GTCAGGACACTTACCACACTG -3'

Sequencing Primer
(F):5'- AGATCTGAGGTGCTTGATACATG -3'
(R):5'- CAGGTGTGGTTTTAAATGCCGAG -3'
Posted On2019-06-26