Incidental Mutation 'R6527:1110002E22Rik'
ID 521944
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 044653-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R6527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137773288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 826 (T826A)
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: T826A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: T826A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184925
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,076,995 (GRCm39) I686N possibly damaging Het
Abcb6 T C 1: 75,154,132 (GRCm39) probably null Het
Adgrl3 A C 5: 81,935,364 (GRCm39) E1299A probably damaging Het
Amd2 A C 10: 35,586,802 (GRCm39) Y252D probably damaging Het
Cfap74 A G 4: 155,506,722 (GRCm39) probably null Het
Dhx29 G T 13: 113,069,076 (GRCm39) K135N probably damaging Het
Dlg5 T A 14: 24,240,516 (GRCm39) D245V possibly damaging Het
Dscaml1 C T 9: 45,623,482 (GRCm39) Q83* probably null Het
Dsp T A 13: 38,379,849 (GRCm39) L1599Q probably damaging Het
Duox2 A G 2: 122,125,095 (GRCm39) V369A probably benign Het
Flacc1 T C 1: 58,731,572 (GRCm39) M1V probably null Het
Gbe1 T A 16: 70,230,560 (GRCm39) probably null Het
Gm7298 A G 6: 121,746,669 (GRCm39) K600R probably benign Het
Heatr4 C T 12: 84,026,537 (GRCm39) G240E probably damaging Het
Jakmip2 A G 18: 43,689,589 (GRCm39) V651A possibly damaging Het
Jam3 C T 9: 27,066,640 (GRCm39) R8Q unknown Het
Letm2 A G 8: 26,082,522 (GRCm39) probably benign Het
Lmod3 T C 6: 97,224,339 (GRCm39) D494G probably benign Het
Mast2 T C 4: 116,172,136 (GRCm39) D604G probably damaging Het
Mif4gd C T 11: 115,500,101 (GRCm39) probably null Het
Msr1 T C 8: 40,077,274 (GRCm39) E112G possibly damaging Het
Mtus2 A G 5: 148,214,408 (GRCm39) probably null Het
Muc4 A G 16: 32,753,433 (GRCm38) H1103R probably benign Het
Nudt14 T A 12: 112,898,507 (GRCm39) I198F possibly damaging Het
Or11j4 T A 14: 50,630,885 (GRCm39) L224* probably null Het
Or13p3 T A 4: 118,567,045 (GRCm39) F147Y possibly damaging Het
Or1n1b T C 2: 36,780,594 (GRCm39) T89A probably benign Het
Osbpl8 T C 10: 111,129,066 (GRCm39) I884T probably benign Het
Podxl2 T C 6: 88,819,912 (GRCm39) N550S probably damaging Het
Ppp1r9a A G 6: 5,045,949 (GRCm39) Y151C probably damaging Het
Prss42 T C 9: 110,629,924 (GRCm39) V226A possibly damaging Het
Psmd12 A G 11: 107,379,794 (GRCm39) I116V probably damaging Het
Psme4 A C 11: 30,782,175 (GRCm39) I872L probably benign Het
Rab11fip1 A T 8: 27,664,420 (GRCm39) V65E probably damaging Het
Ros1 T C 10: 52,019,473 (GRCm39) N700S possibly damaging Het
Slc15a4 G A 5: 127,673,773 (GRCm39) T547M probably damaging Het
Slfn3 T A 11: 83,103,932 (GRCm39) C268S probably benign Het
Smc5 T C 19: 23,205,554 (GRCm39) Q794R probably benign Het
Sqor A G 2: 122,651,206 (GRCm39) Y434C probably damaging Het
Steap4 T A 5: 8,028,502 (GRCm39) L360H probably damaging Het
Sycp1 A G 3: 102,806,203 (GRCm39) V496A probably benign Het
Tmem161b T G 13: 84,420,383 (GRCm39) M128R probably benign Het
Tmem59l T C 8: 70,938,775 (GRCm39) E102G probably damaging Het
Tnks A T 8: 35,340,247 (GRCm39) V457D probably benign Het
Tomt A G 7: 101,549,599 (GRCm39) Y230H probably damaging Het
Trim37 A G 11: 87,080,910 (GRCm39) N561D probably damaging Het
V1ra8 T A 6: 90,180,295 (GRCm39) I166K probably damaging Het
Vmn1r56 A G 7: 5,199,575 (GRCm39) V14A probably benign Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwa8 A T 14: 79,184,653 (GRCm39) S384C possibly damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp984 T C 4: 147,840,381 (GRCm39) N157D probably benign Het
Zzef1 G A 11: 72,765,816 (GRCm39) D1448N 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
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
R6920:1110002E22Rik UTSW 3 137,773,811 (GRCm39) missense probably damaging 1.00
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'- TGTACACAGATGACGGCTCAG -3'
(R):5'- GGAGACATTTTGGCCGGAAC -3'

Sequencing Primer
(F):5'- CAGATGACGGCTCAGAGACATC -3'
(R):5'- CTCGAGGAGTACTGGCTTTGAAAATG -3'
Posted On 2018-06-06