Incidental Mutation 'R4777:1110002E22Rik'
ID 368004
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 041992-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R4777 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 138065052-138081506 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 138065742 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 231 (S231R)
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: S231R

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: S231R

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,374,215 (GRCm38) I137N probably damaging Het
Abhd10 G A 16: 45,736,916 (GRCm38) Q176* probably null Het
Acer3 T C 7: 98,261,597 (GRCm38) Y86C probably damaging Het
Ankrd36 T C 11: 5,607,120 (GRCm38) V356A probably benign Het
Atp1a1 A G 3: 101,594,996 (GRCm38) probably null Het
Bmp8b G A 4: 123,122,000 (GRCm38) R260Q possibly damaging Het
C2cd3 T A 7: 100,416,332 (GRCm38) V775D possibly damaging Het
Cacna1b T A 2: 24,732,325 (GRCm38) I216F probably damaging Het
Capn5 T A 7: 98,131,718 (GRCm38) N284I probably damaging Het
Cbr1 C A 16: 93,610,054 (GRCm38) D219E probably benign Het
Cdca2 C T 14: 67,713,140 (GRCm38) R114Q probably damaging Het
Cdh7 G A 1: 109,994,325 (GRCm38) W49* probably null Het
Cep152 C T 2: 125,564,095 (GRCm38) V1506I probably benign Het
Cfap97 C T 8: 46,195,297 (GRCm38) Q537* probably null Het
Cpsf2 T A 12: 101,996,832 (GRCm38) V385E probably damaging Het
Dse A G 10: 34,153,588 (GRCm38) V502A possibly damaging Het
Fam171a1 T A 2: 3,223,513 (GRCm38) F300L probably benign Het
Fnip1 T G 11: 54,500,556 (GRCm38) N438K probably damaging Het
Fstl5 C T 3: 76,593,500 (GRCm38) T412M probably damaging Het
Gm11938 T A 11: 99,603,233 (GRCm38) Q12L unknown Het
Hcls1 G T 16: 36,955,316 (GRCm38) A171S probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 117,975,733 (GRCm38) probably benign Het
Hydin G T 8: 110,410,464 (GRCm38) C633F probably damaging Het
Ica1 A T 6: 8,644,145 (GRCm38) D381E probably benign Het
Ift74 A G 4: 94,652,997 (GRCm38) K220E probably benign Het
Igfn1 A T 1: 135,954,862 (GRCm38) D2748E probably benign Het
Il16 A C 7: 83,650,896 (GRCm38) D396E probably benign Het
Impdh1 G T 6: 29,205,202 (GRCm38) A200E possibly damaging Het
Itga4 C T 2: 79,313,710 (GRCm38) T647I possibly damaging Het
Jpt1 A T 11: 115,500,671 (GRCm38) M104K probably benign Het
Krt73 C A 15: 101,794,001 (GRCm38) A476S probably benign Het
Lama3 T C 18: 12,413,771 (GRCm38) Y363H probably damaging Het
Lgr4 C T 2: 109,996,682 (GRCm38) P177L probably damaging Het
Lrp2 T C 2: 69,482,264 (GRCm38) D2560G probably damaging Het
Ly6m T C 15: 74,880,683 (GRCm38) N48S probably benign Het
Macf1 A T 4: 123,376,502 (GRCm38) F6617I probably damaging Het
Mcf2l T A 8: 13,018,051 (GRCm38) probably null Het
Mcub T A 3: 129,969,951 (GRCm38) Q42L probably damaging Het
Mfsd9 C T 1: 40,781,540 (GRCm38) V150I possibly damaging Het
Myo15b T C 11: 115,879,652 (GRCm38) V96A probably damaging Het
Nfkb2 G T 19: 46,307,567 (GRCm38) E170D probably benign Het
Or10aa3 T G 1: 174,050,678 (GRCm38) Y102D probably damaging Het
Or10g6 T C 9: 40,022,698 (GRCm38) F102L possibly damaging Het
Or1r1 A G 11: 73,984,395 (GRCm38) V71A probably benign Het
Pgap6 T C 17: 26,121,541 (GRCm38) V633A probably damaging Het
Pinlyp T A 7: 24,542,143 (GRCm38) I153F possibly damaging Het
Plk2 A C 13: 110,397,773 (GRCm38) M296L probably benign Het
Plvap T C 8: 71,507,986 (GRCm38) Y262C probably benign Het
Ppfia3 C A 7: 45,341,157 (GRCm38) G1066V probably damaging Het
Prokr1 A G 6: 87,588,860 (GRCm38) M1T probably null Het
Ptgs2 G T 1: 150,105,387 (GRCm38) A474S probably benign Het
Pth2r A G 1: 65,388,517 (GRCm38) T450A possibly damaging Het
Ranbp6 A T 19: 29,811,637 (GRCm38) F438L probably damaging Het
Ripor1 A T 8: 105,614,990 (GRCm38) Q102L probably damaging Het
Rprd2 C T 3: 95,787,374 (GRCm38) V116I probably benign Het
Sacs T C 14: 61,211,809 (GRCm38) V3768A probably damaging Het
Scn8a T C 15: 101,015,951 (GRCm38) Y1075H probably damaging Het
Senp3 C T 11: 69,678,237 (GRCm38) G366D probably damaging Het
Smim1 T C 4: 154,023,650 (GRCm38) probably benign Het
Sptan1 A G 2: 29,996,435 (GRCm38) I817V probably damaging Het
Stag3 A T 5: 138,309,199 (GRCm38) probably benign Het
Stk17b A T 1: 53,771,708 (GRCm38) H79Q probably damaging Het
Svil A G 18: 5,088,813 (GRCm38) K1296E probably damaging Het
Tmem117 T A 15: 95,094,450 (GRCm38) Y330* probably null Het
Tnxb G T 17: 34,671,943 (GRCm38) R420L probably damaging Het
Trim9 C A 12: 70,347,071 (GRCm38) C33F probably damaging Het
Usp29 A C 7: 6,962,748 (GRCm38) Y530S probably benign Het
Vps26b T C 9: 27,010,456 (GRCm38) T258A possibly damaging Het
Vrtn C A 12: 84,648,826 (GRCm38) H117N probably damaging Het
Wdr33 C T 18: 31,881,248 (GRCm38) H388Y probably damaging Het
Zfp451 A T 1: 33,782,105 (GRCm38) V222D possibly damaging Het
Zfp953 A G 13: 67,343,129 (GRCm38) I253T probably benign Het
Zfy2 A G Y: 2,116,194 (GRCm38) V282A probably benign Het
Zscan29 A T 2: 121,169,324 (GRCm38) V132D probably damaging Het
Zswim4 G T 8: 84,236,957 (GRCm38) D16E probably benign Het
Other mutations in 1110002E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:1110002E22Rik UTSW 3 138,066,805 (GRCm38) missense possibly damaging 0.95
R0047:1110002E22Rik UTSW 3 138,066,264 (GRCm38) missense probably damaging 0.97
R0047:1110002E22Rik UTSW 3 138,066,264 (GRCm38) missense probably damaging 0.97
R0102:1110002E22Rik UTSW 3 138,068,113 (GRCm38) missense probably damaging 1.00
R0102:1110002E22Rik UTSW 3 138,068,113 (GRCm38) missense probably damaging 1.00
R0197:1110002E22Rik UTSW 3 138,069,871 (GRCm38) missense probably damaging 1.00
R0239:1110002E22Rik UTSW 3 138,065,834 (GRCm38) small deletion probably benign
R0394:1110002E22Rik UTSW 3 138,067,304 (GRCm38) missense probably damaging 0.99
R0401:1110002E22Rik UTSW 3 138,070,306 (GRCm38) missense possibly damaging 0.73
R0496:1110002E22Rik UTSW 3 138,068,244 (GRCm38) missense probably damaging 1.00
R0591:1110002E22Rik UTSW 3 138,068,943 (GRCm38) nonsense probably null
R0711:1110002E22Rik UTSW 3 138,068,225 (GRCm38) missense probably damaging 0.99
R0883:1110002E22Rik UTSW 3 138,069,871 (GRCm38) missense probably damaging 1.00
R0908:1110002E22Rik UTSW 3 138,070,077 (GRCm38) missense probably damaging 0.99
R0968:1110002E22Rik UTSW 3 138,067,206 (GRCm38) missense probably damaging 0.99
R1023:1110002E22Rik UTSW 3 138,066,871 (GRCm38) missense probably damaging 1.00
R1168:1110002E22Rik UTSW 3 138,067,900 (GRCm38) missense probably benign 0.20
R1472:1110002E22Rik UTSW 3 138,067,552 (GRCm38) missense possibly damaging 0.95
R1538:1110002E22Rik UTSW 3 138,065,401 (GRCm38) missense probably benign 0.02
R1648:1110002E22Rik UTSW 3 138,069,420 (GRCm38) missense probably benign 0.18
R1800:1110002E22Rik UTSW 3 138,066,718 (GRCm38) missense probably damaging 1.00
R1919:1110002E22Rik UTSW 3 138,067,270 (GRCm38) missense probably damaging 0.99
R1974:1110002E22Rik UTSW 3 138,067,267 (GRCm38) missense probably damaging 1.00
R1990:1110002E22Rik UTSW 3 138,065,658 (GRCm38) nonsense probably null
R1991:1110002E22Rik UTSW 3 138,065,658 (GRCm38) nonsense probably null
R2102:1110002E22Rik UTSW 3 138,065,173 (GRCm38) missense probably damaging 0.99
R2761:1110002E22Rik UTSW 3 138,067,780 (GRCm38) missense probably damaging 0.99
R2899:1110002E22Rik UTSW 3 138,065,682 (GRCm38) missense probably benign 0.00
R3618:1110002E22Rik UTSW 3 138,068,407 (GRCm38) missense probably damaging 1.00
R3904:1110002E22Rik UTSW 3 138,066,639 (GRCm38) missense probably benign 0.15
R3955:1110002E22Rik UTSW 3 138,068,073 (GRCm38) missense probably benign 0.00
R4520:1110002E22Rik UTSW 3 138,070,266 (GRCm38) missense probably damaging 0.99
R4619:1110002E22Rik UTSW 3 138,069,759 (GRCm38) missense probably damaging 0.99
R4736:1110002E22Rik UTSW 3 138,068,485 (GRCm38) missense probably damaging 0.99
R4752:1110002E22Rik UTSW 3 138,069,990 (GRCm38) missense possibly damaging 0.91
R4780:1110002E22Rik UTSW 3 138,065,370 (GRCm38) missense probably benign 0.02
R4824:1110002E22Rik UTSW 3 138,065,676 (GRCm38) missense probably benign 0.00
R4829:1110002E22Rik UTSW 3 138,069,019 (GRCm38) missense probably damaging 0.99
R4965:1110002E22Rik UTSW 3 138,069,672 (GRCm38) missense probably benign
R5206:1110002E22Rik UTSW 3 138,066,511 (GRCm38) missense probably benign 0.00
R5212:1110002E22Rik UTSW 3 138,065,850 (GRCm38) missense possibly damaging 0.85
R5373:1110002E22Rik UTSW 3 138,067,635 (GRCm38) missense probably benign
R5374:1110002E22Rik UTSW 3 138,067,635 (GRCm38) missense probably benign
R5506:1110002E22Rik UTSW 3 138,067,947 (GRCm38) missense probably damaging 1.00
R5528:1110002E22Rik UTSW 3 138,066,499 (GRCm38) missense probably benign
R5536:1110002E22Rik UTSW 3 138,066,388 (GRCm38) missense possibly damaging 0.89
R5587:1110002E22Rik UTSW 3 138,065,409 (GRCm38) missense probably benign
R5759:1110002E22Rik UTSW 3 138,068,658 (GRCm38) missense probably benign
R5933:1110002E22Rik UTSW 3 138,070,348 (GRCm38) missense probably damaging 1.00
R5957:1110002E22Rik UTSW 3 138,070,161 (GRCm38) missense probably benign
R6092:1110002E22Rik UTSW 3 138,068,940 (GRCm38) missense probably benign 0.02
R6305:1110002E22Rik UTSW 3 138,067,980 (GRCm38) missense probably damaging 1.00
R6457:1110002E22Rik UTSW 3 138,066,622 (GRCm38) missense probably damaging 1.00
R6469:1110002E22Rik UTSW 3 138,066,975 (GRCm38) missense probably damaging 0.97
R6499:1110002E22Rik UTSW 3 138,068,800 (GRCm38) missense probably damaging 1.00
R6527:1110002E22Rik UTSW 3 138,067,527 (GRCm38) missense probably damaging 0.99
R6580:1110002E22Rik UTSW 3 138,066,625 (GRCm38) missense probably benign 0.00
R6693:1110002E22Rik UTSW 3 138,069,154 (GRCm38) missense probably benign 0.00
R6751:1110002E22Rik UTSW 3 138,066,210 (GRCm38) missense probably damaging 1.00
R6852:1110002E22Rik UTSW 3 138,065,169 (GRCm38) nonsense probably null
R6920:1110002E22Rik UTSW 3 138,068,050 (GRCm38) missense probably damaging 1.00
R7001:1110002E22Rik UTSW 3 138,065,511 (GRCm38) missense probably benign
R7145:1110002E22Rik UTSW 3 138,070,059 (GRCm38) missense probably damaging 1.00
R7238:1110002E22Rik UTSW 3 138,069,951 (GRCm38) missense probably damaging 1.00
R7278:1110002E22Rik UTSW 3 138,065,476 (GRCm38) missense probably benign
R7425:1110002E22Rik UTSW 3 138,065,695 (GRCm38) missense probably benign 0.00
R7487:1110002E22Rik UTSW 3 138,066,868 (GRCm38) missense probably damaging 1.00
R7557:1110002E22Rik UTSW 3 138,068,283 (GRCm38) nonsense probably null
R7663:1110002E22Rik UTSW 3 138,066,126 (GRCm38) missense probably damaging 0.98
R7743:1110002E22Rik UTSW 3 138,068,755 (GRCm38) missense probably damaging 1.00
R7799:1110002E22Rik UTSW 3 138,069,601 (GRCm38) missense probably benign 0.33
R8181:1110002E22Rik UTSW 3 138,068,395 (GRCm38) missense probably damaging 0.99
R8264:1110002E22Rik UTSW 3 138,067,782 (GRCm38) missense probably damaging 0.99
R8273:1110002E22Rik UTSW 3 138,066,450 (GRCm38) missense probably benign
R8434:1110002E22Rik UTSW 3 138,067,260 (GRCm38) missense probably damaging 0.97
R8530:1110002E22Rik UTSW 3 138,068,825 (GRCm38) missense probably damaging 0.99
R8754:1110002E22Rik UTSW 3 138,066,037 (GRCm38) missense probably benign
R8808:1110002E22Rik UTSW 3 138,070,113 (GRCm38) missense probably benign 0.01
R8891:1110002E22Rik UTSW 3 138,066,759 (GRCm38) nonsense probably null
R9026:1110002E22Rik UTSW 3 138,065,148 (GRCm38) missense possibly damaging 0.53
R9177:1110002E22Rik UTSW 3 138,069,916 (GRCm38) missense probably damaging 1.00
R9250:1110002E22Rik UTSW 3 138,066,628 (GRCm38) missense probably damaging 1.00
R9291:1110002E22Rik UTSW 3 138,066,703 (GRCm38) missense probably benign 0.02
R9293:1110002E22Rik UTSW 3 138,066,078 (GRCm38) missense possibly damaging 0.93
R9307:1110002E22Rik UTSW 3 138,065,422 (GRCm38) missense probably benign 0.04
R9439:1110002E22Rik UTSW 3 138,066,287 (GRCm38) missense probably benign 0.00
R9509:1110002E22Rik UTSW 3 138,065,834 (GRCm38) small deletion probably benign
R9582:1110002E22Rik UTSW 3 138,067,005 (GRCm38) missense probably damaging 0.99
R9599:1110002E22Rik UTSW 3 138,068,506 (GRCm38) missense probably benign 0.16
R9613:1110002E22Rik UTSW 3 138,065,365 (GRCm38) missense probably damaging 0.98
R9670:1110002E22Rik UTSW 3 138,065,133 (GRCm38) missense probably benign
X0003:1110002E22Rik UTSW 3 138,069,096 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAACTCACAGACCAGCCTG -3'
(R):5'- CCAGTAACTTGGTGGGATCG -3'

Sequencing Primer
(F):5'- GGTGAGCCGACCACAAGAC -3'
(R):5'- AACTTGGTGGGATCGTCCATTTTG -3'
Posted On 2015-12-29