Incidental Mutation 'R0239:1110002E22Rik'
ID 66158
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 038477-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R0239 (G1)
Quality Score 153
Status Not validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TTCCTCCTCCTCCTCCTCCTCC to TTCCTCCTCCTCCTCCTCC at 137771595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000163080
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.9%
Validation Efficiency 100% (3/3)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d C A 2: 131,388,134 (GRCm39) V474F probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Ash1l A G 3: 88,974,529 (GRCm39) D2618G possibly damaging Het
Atp6v1c2 C A 12: 17,344,676 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Camta1 A G 4: 151,228,187 (GRCm39) W882R probably damaging Het
Cd72 A G 4: 43,453,163 (GRCm39) V91A probably benign Het
Cdh12 T C 15: 21,586,493 (GRCm39) W771R probably damaging Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
D3Ertd751e A G 3: 41,708,313 (GRCm39) Y150C probably damaging Het
Depdc5 T C 5: 33,100,584 (GRCm39) S832P probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Elp1 C A 4: 56,784,596 (GRCm39) V466L probably benign Het
Espnl T C 1: 91,250,009 (GRCm39) V52A probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gemin6 C A 17: 80,533,139 (GRCm39) A24D probably damaging Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Hyal5 T A 6: 24,876,343 (GRCm39) L72Q probably damaging Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Kbtbd3 G T 9: 4,330,144 (GRCm39) V173L possibly damaging Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Nacc2 T G 2: 25,952,273 (GRCm39) N361T probably damaging Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nipal4 A G 11: 46,041,268 (GRCm39) V309A possibly damaging Het
Nomo1 T C 7: 45,729,018 (GRCm39) probably null Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Nwd2 A T 5: 63,957,467 (GRCm39) I266F probably benign Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Orc1 T C 4: 108,452,843 (GRCm39) probably null Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pah C T 10: 87,403,143 (GRCm39) P173S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plekha4 A G 7: 45,181,782 (GRCm39) H62R probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ppfia4 T C 1: 134,256,927 (GRCm39) E98G possibly damaging Het
Ptk2 A T 15: 73,215,132 (GRCm39) probably null Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Scai T A 2: 38,965,054 (GRCm39) I597F probably benign Het
Sirpd A G 3: 15,361,661 (GRCm39) L163P probably damaging Het
Slc35c2 C T 2: 165,122,757 (GRCm39) G176S probably damaging Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Tbc1d31 C A 15: 57,804,149 (GRCm39) T388N probably benign Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tmem79 A G 3: 88,240,628 (GRCm39) S107P probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Tsnaxip1 T A 8: 106,571,120 (GRCm39) I660N possibly damaging Het
Ube2q2 T C 9: 55,070,291 (GRCm39) S78P probably damaging Het
Vac14 A T 8: 111,362,007 (GRCm39) probably null Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp532 A T 18: 65,816,056 (GRCm39) I810F possibly damaging Het
Zfp599 C T 9: 22,161,055 (GRCm39) C370Y probably damaging 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
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
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
Posted On 2013-08-19