Incidental Mutation 'R6092:1110002E22Rik'
ID 485971
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 044249-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R6092 (G1)
Quality Score 140.008
Status Validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137774701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1297 (P1297S)
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
AA Change: P1297S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: P1297S

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: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik C T 13: 61,001,461 (GRCm39) V89M probably benign Het
Abhd16a T C 17: 35,317,786 (GRCm39) probably null Het
Abtb1 A C 6: 88,815,433 (GRCm39) C264G probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arid1a C T 4: 133,421,163 (GRCm39) G881R unknown Het
Asb8 A G 15: 98,034,123 (GRCm39) V144A possibly damaging Het
Atm A C 9: 53,435,714 (GRCm39) C199G probably damaging Het
Atxn1 C A 13: 45,720,288 (GRCm39) V536L probably benign Het
Baz1a C T 12: 54,955,868 (GRCm39) V1074M possibly damaging Het
BC034090 T A 1: 155,100,659 (GRCm39) D535V probably damaging Het
Casp8ap2 C A 4: 32,639,380 (GRCm39) H145N probably damaging Het
Ccdc24 T A 4: 117,729,645 (GRCm39) K25* probably null Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Cdh20 A T 1: 110,026,036 (GRCm39) Y424F probably benign Het
Clasp1 T C 1: 118,438,028 (GRCm39) S612P probably damaging Het
Cxcl14 T C 13: 56,443,646 (GRCm39) M55V possibly damaging Het
Dnah11 T C 12: 117,892,191 (GRCm39) T3661A probably benign Het
Dnah14 T A 1: 181,449,398 (GRCm39) D574E probably benign Het
Dnah6 C T 6: 73,091,680 (GRCm39) V2204M possibly damaging Het
Ercc4 A T 16: 12,943,125 (GRCm39) H178L probably benign Het
Far2 T C 6: 148,076,581 (GRCm39) F475L probably benign Het
Ggt7 A G 2: 155,359,959 (GRCm39) probably null Het
Gm4131 T A 14: 62,718,364 (GRCm39) T81S possibly damaging Het
Gprc6a A G 10: 51,491,173 (GRCm39) S788P probably damaging Het
Hmgxb3 C A 18: 61,270,672 (GRCm39) G884V possibly damaging Het
Homer1 T A 13: 93,502,945 (GRCm39) probably benign Het
Iars1 T C 13: 49,861,897 (GRCm39) S483P probably damaging Het
Kansl1l C G 1: 66,812,643 (GRCm39) E457Q probably damaging Het
Krtap4-9 G A 11: 99,676,481 (GRCm39) probably benign Het
Lepr C A 4: 101,649,220 (GRCm39) P874T probably damaging Het
Mad2l2 T A 4: 148,228,067 (GRCm39) F100L probably damaging Het
Mavs A T 2: 131,087,518 (GRCm39) R339* probably null Het
Mettl1 G A 10: 126,877,843 (GRCm39) probably benign Het
Mfsd8 A G 3: 40,774,031 (GRCm39) V493A possibly damaging Het
Mtmr9 C T 14: 63,779,901 (GRCm39) V63M possibly damaging Het
Mto1 T C 9: 78,368,131 (GRCm39) I425T possibly damaging Het
Or2av9 A T 11: 58,380,900 (GRCm39) M227K probably damaging Het
Or5g29 A G 2: 85,420,950 (GRCm39) Y22C probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pclo C T 5: 14,727,937 (GRCm39) probably benign Het
Phf2 T C 13: 48,969,533 (GRCm39) D608G unknown Het
Plch2 T C 4: 155,068,829 (GRCm39) T1266A probably benign Het
Prdm12 A G 2: 31,533,889 (GRCm39) N169D probably damaging Het
Rimbp3 A G 16: 17,030,134 (GRCm39) Y1186C probably damaging Het
Serpinb3d T C 1: 107,006,989 (GRCm39) M240V probably damaging Het
Slc25a38 C T 9: 119,945,658 (GRCm39) R74C probably damaging Het
Slc25a39 A T 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc26a8 T C 17: 28,867,129 (GRCm39) N564S probably damaging Het
Spag4 G A 2: 155,907,696 (GRCm39) probably benign Het
Stx1b A G 7: 127,407,035 (GRCm39) M74T possibly damaging Het
Tbc1d1 A G 5: 64,507,242 (GRCm39) D1153G probably benign Het
Tert T C 13: 73,776,700 (GRCm39) F484L probably benign Het
Tet1 A G 10: 62,649,494 (GRCm39) V72A probably benign Het
Tnfrsf13c T C 15: 82,107,355 (GRCm39) T147A probably damaging Het
Trpa1 A T 1: 14,959,710 (GRCm39) Y659N probably damaging Het
Trpm2 A G 10: 77,761,516 (GRCm39) F1045L probably benign Het
Ttc13 T C 8: 125,405,772 (GRCm39) H529R probably benign Het
Ttn T C 2: 76,545,614 (GRCm39) T32570A probably damaging Het
Uba7 A G 9: 107,860,359 (GRCm39) T892A possibly damaging Het
Uty A T Y: 1,174,836 (GRCm39) M195K probably benign Het
Zfp109 A G 7: 23,928,978 (GRCm39) S152P possibly damaging Het
Zfp532 T C 18: 65,777,281 (GRCm39) V846A probably damaging Het
Zfp658 A T 7: 43,223,951 (GRCm39) H742L possibly damaging Het
Zfp831 C A 2: 174,547,299 (GRCm39) P1494Q 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
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
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 PCR Primer
(F):5'- ATTGTCTCCAAAGCGTCTGC -3'
(R):5'- CCATGTTCTCAAAGGCAGCC -3'

Sequencing Primer
(F):5'- TCAGAGGACCCCTGAGAAGC -3'
(R):5'- CCTCTGCAGACGTTCTAT -3'
Posted On 2017-08-16