Incidental Mutation 'R6920:1110002E22Rik'
ID 539562
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 045040-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R6920 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137773811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1000 (Y1000F)
Ref Sequence ENSEMBL: ENSMUSP00000123851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053318] [ENSMUST00000163080]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053318
Predicted Effect probably damaging
Transcript: ENSMUST00000163080
AA Change: Y1000F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: Y1000F

DomainStartEndE-ValueType
low complexity region 44 55 N/A INTRINSIC
low complexity region 87 102 N/A INTRINSIC
low complexity region 229 247 N/A INTRINSIC
low complexity region 422 438 N/A INTRINSIC
low complexity region 459 505 N/A INTRINSIC
low complexity region 667 680 N/A INTRINSIC
low complexity region 937 948 N/A INTRINSIC
low complexity region 995 1007 N/A INTRINSIC
low complexity region 1105 1115 N/A INTRINSIC
low complexity region 1224 1242 N/A INTRINSIC
low complexity region 1376 1385 N/A INTRINSIC
Pfam:DUF4585 1598 1667 6.9e-32 PFAM
low complexity region 1723 1738 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik A G 8: 122,262,160 (GRCm39) probably null Het
Aadat T C 8: 60,982,467 (GRCm39) F245L probably damaging Het
Adcy10 T G 1: 165,403,227 (GRCm39) L1575W probably damaging Het
Anks4b A T 7: 119,782,231 (GRCm39) T421S probably damaging Het
Anpep A T 7: 79,475,097 (GRCm39) I155N probably damaging Het
Arnt T C 3: 95,397,932 (GRCm39) F572L probably damaging Het
Brip1 G A 11: 86,039,362 (GRCm39) Q391* probably null Het
Brpf3 C A 17: 29,042,970 (GRCm39) H1004N probably benign Het
Cand2 T A 6: 115,768,250 (GRCm39) V465D possibly damaging Het
Card10 G T 15: 78,686,609 (GRCm39) Y69* probably null Het
Catsperd A T 17: 56,962,175 (GRCm39) K450* probably null Het
Ccdc137 T C 11: 120,351,009 (GRCm39) L137P probably damaging Het
Cic T C 7: 24,990,107 (GRCm39) S1905P probably damaging Het
Csmd3 C T 15: 47,507,601 (GRCm39) G2971S probably damaging Het
Dmxl2 A G 9: 54,379,496 (GRCm39) Y183H probably damaging Het
Drosha T C 15: 12,834,396 (GRCm39) Y167H unknown Het
E330034G19Rik A G 14: 24,358,310 (GRCm39) K214R unknown Het
Fam180a T G 6: 35,290,765 (GRCm39) I73L possibly damaging Het
Fbxo28 G T 1: 182,168,986 (GRCm39) H51N probably benign Het
Gm12728 T G 4: 105,647,533 (GRCm39) probably null Het
Gm973 T C 1: 59,591,620 (GRCm39) C335R possibly damaging Het
Gpx8 A G 13: 113,179,770 (GRCm39) V177A probably damaging Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Htt T G 5: 35,034,444 (GRCm39) Y1972D probably null Het
Igkv6-14 T C 6: 70,412,116 (GRCm39) Y56C possibly damaging Het
Kcnma1 A G 14: 23,576,602 (GRCm39) probably null Het
Klc1 T C 12: 111,754,019 (GRCm39) S105P probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lamc3 A G 2: 31,798,701 (GRCm39) D469G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Mboat4 G A 8: 34,591,865 (GRCm39) R434H probably benign Het
Mttp T C 3: 137,821,043 (GRCm39) K270E possibly damaging Het
Muc5ac G A 7: 141,347,035 (GRCm39) C337Y possibly damaging Het
Nars1 A G 18: 64,634,471 (GRCm39) V484A probably damaging Het
Noxa1 G T 2: 24,981,844 (GRCm39) probably null Het
Or14c45 A G 7: 86,176,522 (GRCm39) T186A probably benign Het
Or7g18 T A 9: 18,786,821 (GRCm39) L63H probably damaging Het
Osbpl7 G A 11: 96,941,584 (GRCm39) G36S probably damaging Het
P4htm C T 9: 108,460,812 (GRCm39) G220D probably benign Het
Pcdhga7 A G 18: 37,848,199 (GRCm39) I69V probably benign Het
Pla2g4e C T 2: 120,015,795 (GRCm39) E250K possibly damaging Het
Plcd4 A G 1: 74,604,994 (GRCm39) probably benign Het
Ppfia3 C A 7: 45,008,231 (GRCm39) G213V possibly damaging Het
Ppp1r1a A G 15: 103,441,513 (GRCm39) S67P probably damaging Het
Prss43 T C 9: 110,657,680 (GRCm39) F193S probably benign Het
Rfx1 A G 8: 84,822,117 (GRCm39) Y872C probably damaging Het
Rhot1 T A 11: 80,132,921 (GRCm39) N218K probably benign Het
Sall1 A G 8: 89,757,021 (GRCm39) F1028L probably damaging Het
Siglec1 G A 2: 130,919,997 (GRCm39) Q845* probably null Het
Slc38a9 C T 13: 112,838,060 (GRCm39) T275I possibly damaging Het
Slc39a4 A T 15: 76,497,470 (GRCm39) S481T probably damaging Het
Ssr1 A T 13: 38,169,998 (GRCm39) N191K probably damaging Het
Tenm4 A T 7: 96,544,757 (GRCm39) S2258C probably damaging Het
Tm7sf3 T G 6: 146,507,645 (GRCm39) R472S possibly damaging Het
Tmprss11a G A 5: 86,576,494 (GRCm39) T119M probably benign Het
Traip C T 9: 107,838,240 (GRCm39) R142* probably null Het
Utrn T C 10: 12,626,214 (GRCm39) N100D probably damaging Het
Vmn1r74 T C 7: 11,581,575 (GRCm39) S292P probably benign Het
Vmn2r71 A T 7: 85,273,108 (GRCm39) I641F probably damaging Het
Vmn2r9 T A 5: 108,996,912 (GRCm39) Y119F possibly damaging Het
Vmn2r98 A G 17: 19,285,510 (GRCm39) N110S probably damaging Het
Vwce A G 19: 10,642,057 (GRCm39) T928A probably benign Het
Zfp608 T A 18: 55,121,337 (GRCm39) K83N probably damaging Het
Zfp808 A G 13: 62,320,982 (GRCm39) H737R probably benign Het
Zswim4 T C 8: 84,940,714 (GRCm39) N795S probably benign Het
Other mutations in 1110002E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:1110002E22Rik UTSW 3 137,772,566 (GRCm39) missense possibly damaging 0.95
R0047:1110002E22Rik UTSW 3 137,772,025 (GRCm39) missense probably damaging 0.97
R0047:1110002E22Rik UTSW 3 137,772,025 (GRCm39) missense probably damaging 0.97
R0102:1110002E22Rik UTSW 3 137,773,874 (GRCm39) missense probably damaging 1.00
R0102:1110002E22Rik UTSW 3 137,773,874 (GRCm39) missense probably damaging 1.00
R0197:1110002E22Rik UTSW 3 137,775,632 (GRCm39) missense probably damaging 1.00
R0239:1110002E22Rik UTSW 3 137,771,595 (GRCm39) small deletion probably benign
R0394:1110002E22Rik UTSW 3 137,773,065 (GRCm39) missense probably damaging 0.99
R0401:1110002E22Rik UTSW 3 137,776,067 (GRCm39) missense possibly damaging 0.73
R0496:1110002E22Rik UTSW 3 137,774,005 (GRCm39) missense probably damaging 1.00
R0591:1110002E22Rik UTSW 3 137,774,704 (GRCm39) nonsense probably null
R0711:1110002E22Rik UTSW 3 137,773,986 (GRCm39) missense probably damaging 0.99
R0883:1110002E22Rik UTSW 3 137,775,632 (GRCm39) missense probably damaging 1.00
R0908:1110002E22Rik UTSW 3 137,775,838 (GRCm39) missense probably damaging 0.99
R0968:1110002E22Rik UTSW 3 137,772,967 (GRCm39) missense probably damaging 0.99
R1023:1110002E22Rik UTSW 3 137,772,632 (GRCm39) missense probably damaging 1.00
R1168:1110002E22Rik UTSW 3 137,773,661 (GRCm39) missense probably benign 0.20
R1472:1110002E22Rik UTSW 3 137,773,313 (GRCm39) missense possibly damaging 0.95
R1538:1110002E22Rik UTSW 3 137,771,162 (GRCm39) missense probably benign 0.02
R1648:1110002E22Rik UTSW 3 137,775,181 (GRCm39) missense probably benign 0.18
R1800:1110002E22Rik UTSW 3 137,772,479 (GRCm39) missense probably damaging 1.00
R1919:1110002E22Rik UTSW 3 137,773,031 (GRCm39) missense probably damaging 0.99
R1974:1110002E22Rik UTSW 3 137,773,028 (GRCm39) missense probably damaging 1.00
R1990:1110002E22Rik UTSW 3 137,771,419 (GRCm39) nonsense probably null
R1991:1110002E22Rik UTSW 3 137,771,419 (GRCm39) nonsense probably null
R2102:1110002E22Rik UTSW 3 137,770,934 (GRCm39) missense probably damaging 0.99
R2761:1110002E22Rik UTSW 3 137,773,541 (GRCm39) missense probably damaging 0.99
R2899:1110002E22Rik UTSW 3 137,771,443 (GRCm39) missense probably benign 0.00
R3618:1110002E22Rik UTSW 3 137,774,168 (GRCm39) missense probably damaging 1.00
R3904:1110002E22Rik UTSW 3 137,772,400 (GRCm39) missense probably benign 0.15
R3955:1110002E22Rik UTSW 3 137,773,834 (GRCm39) missense probably benign 0.00
R4520:1110002E22Rik UTSW 3 137,776,027 (GRCm39) missense probably damaging 0.99
R4619:1110002E22Rik UTSW 3 137,775,520 (GRCm39) missense probably damaging 0.99
R4736:1110002E22Rik UTSW 3 137,774,246 (GRCm39) missense probably damaging 0.99
R4752:1110002E22Rik UTSW 3 137,775,751 (GRCm39) missense possibly damaging 0.91
R4777:1110002E22Rik UTSW 3 137,771,503 (GRCm39) missense probably benign 0.09
R4780:1110002E22Rik UTSW 3 137,771,131 (GRCm39) missense probably benign 0.02
R4824:1110002E22Rik UTSW 3 137,771,437 (GRCm39) missense probably benign 0.00
R4829:1110002E22Rik UTSW 3 137,774,780 (GRCm39) missense probably damaging 0.99
R4965:1110002E22Rik UTSW 3 137,775,433 (GRCm39) missense probably benign
R5206:1110002E22Rik UTSW 3 137,772,272 (GRCm39) missense probably benign 0.00
R5212:1110002E22Rik UTSW 3 137,771,611 (GRCm39) missense possibly damaging 0.85
R5373:1110002E22Rik UTSW 3 137,773,396 (GRCm39) missense probably benign
R5374:1110002E22Rik UTSW 3 137,773,396 (GRCm39) missense probably benign
R5506:1110002E22Rik UTSW 3 137,773,708 (GRCm39) missense probably damaging 1.00
R5528:1110002E22Rik UTSW 3 137,772,260 (GRCm39) missense probably benign
R5536:1110002E22Rik UTSW 3 137,772,149 (GRCm39) missense possibly damaging 0.89
R5587:1110002E22Rik UTSW 3 137,771,170 (GRCm39) missense probably benign
R5759:1110002E22Rik UTSW 3 137,774,419 (GRCm39) missense probably benign
R5933:1110002E22Rik UTSW 3 137,776,109 (GRCm39) missense probably damaging 1.00
R5957:1110002E22Rik UTSW 3 137,775,922 (GRCm39) missense probably benign
R6092:1110002E22Rik UTSW 3 137,774,701 (GRCm39) missense probably benign 0.02
R6305:1110002E22Rik UTSW 3 137,773,741 (GRCm39) missense probably damaging 1.00
R6457:1110002E22Rik UTSW 3 137,772,383 (GRCm39) missense probably damaging 1.00
R6469:1110002E22Rik UTSW 3 137,772,736 (GRCm39) missense probably damaging 0.97
R6499:1110002E22Rik UTSW 3 137,774,561 (GRCm39) missense probably damaging 1.00
R6527:1110002E22Rik UTSW 3 137,773,288 (GRCm39) missense probably damaging 0.99
R6580:1110002E22Rik UTSW 3 137,772,386 (GRCm39) missense probably benign 0.00
R6693:1110002E22Rik UTSW 3 137,774,915 (GRCm39) missense probably benign 0.00
R6751:1110002E22Rik UTSW 3 137,771,971 (GRCm39) missense probably damaging 1.00
R6852:1110002E22Rik UTSW 3 137,770,930 (GRCm39) nonsense probably null
R7001:1110002E22Rik UTSW 3 137,771,272 (GRCm39) missense probably benign
R7145:1110002E22Rik UTSW 3 137,775,820 (GRCm39) missense probably damaging 1.00
R7238:1110002E22Rik UTSW 3 137,775,712 (GRCm39) missense probably damaging 1.00
R7278:1110002E22Rik UTSW 3 137,771,237 (GRCm39) missense probably benign
R7425:1110002E22Rik UTSW 3 137,771,456 (GRCm39) missense probably benign 0.00
R7487:1110002E22Rik UTSW 3 137,772,629 (GRCm39) missense probably damaging 1.00
R7557:1110002E22Rik UTSW 3 137,774,044 (GRCm39) nonsense probably null
R7663:1110002E22Rik UTSW 3 137,771,887 (GRCm39) missense probably damaging 0.98
R7743:1110002E22Rik UTSW 3 137,774,516 (GRCm39) missense probably damaging 1.00
R7799:1110002E22Rik UTSW 3 137,775,362 (GRCm39) missense probably benign 0.33
R8181:1110002E22Rik UTSW 3 137,774,156 (GRCm39) missense probably damaging 0.99
R8264:1110002E22Rik UTSW 3 137,773,543 (GRCm39) missense probably damaging 0.99
R8273:1110002E22Rik UTSW 3 137,772,211 (GRCm39) missense probably benign
R8434:1110002E22Rik UTSW 3 137,773,021 (GRCm39) missense probably damaging 0.97
R8530:1110002E22Rik UTSW 3 137,774,586 (GRCm39) missense probably damaging 0.99
R8754:1110002E22Rik UTSW 3 137,771,798 (GRCm39) missense probably benign
R8808:1110002E22Rik UTSW 3 137,775,874 (GRCm39) missense probably benign 0.01
R8891:1110002E22Rik UTSW 3 137,772,520 (GRCm39) nonsense probably null
R9026:1110002E22Rik UTSW 3 137,770,909 (GRCm39) missense possibly damaging 0.53
R9177:1110002E22Rik UTSW 3 137,775,677 (GRCm39) missense probably damaging 1.00
R9250:1110002E22Rik UTSW 3 137,772,389 (GRCm39) missense probably damaging 1.00
R9291:1110002E22Rik UTSW 3 137,772,464 (GRCm39) missense probably benign 0.02
R9293:1110002E22Rik UTSW 3 137,771,839 (GRCm39) missense possibly damaging 0.93
R9307:1110002E22Rik UTSW 3 137,771,183 (GRCm39) missense probably benign 0.04
R9439:1110002E22Rik UTSW 3 137,772,048 (GRCm39) missense probably benign 0.00
R9509:1110002E22Rik UTSW 3 137,771,595 (GRCm39) small deletion probably benign
R9582:1110002E22Rik UTSW 3 137,772,766 (GRCm39) missense probably damaging 0.99
R9599:1110002E22Rik UTSW 3 137,774,267 (GRCm39) missense probably benign 0.16
R9613:1110002E22Rik UTSW 3 137,771,126 (GRCm39) missense probably damaging 0.98
R9670:1110002E22Rik UTSW 3 137,770,894 (GRCm39) missense probably benign
X0003:1110002E22Rik UTSW 3 137,774,857 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATCTTCCTTCGGAGTCAG -3'
(R):5'- ATGGTCTTGAAGAGCTTTGAGC -3'

Sequencing Primer
(F):5'- ATCTTCCTTCGGAGTCAGAACAG -3'
(R):5'- CTTTGAGCTGCTGCCGCTG -3'
Posted On 2018-11-06