Incidental Mutation 'R5587:1110002E22Rik'
ID 438802
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R5587 (G1)
Quality Score 205
Status Validated
Chromosome 3
Chromosomal Location 138065052-138081506 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138065409 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 120 (R120G)
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: R120G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: R120G

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
Meta Mutation Damage Score 0.0831 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik G T 5: 31,486,084 (GRCm38) G53W probably benign Het
Acad11 A G 9: 104,063,767 (GRCm38) T3A probably benign Het
Adamts18 G A 8: 113,775,360 (GRCm38) Q290* probably null Het
Ahnak A G 19: 9,009,476 (GRCm38) D2708G possibly damaging Het
Asxl3 T A 18: 22,525,247 (GRCm38) C2105S probably benign Het
Atp8b1 A T 18: 64,539,210 (GRCm38) F1028I probably damaging Het
Axdnd1 C G 1: 156,351,412 (GRCm38) W615C probably damaging Het
Bcl3 A T 7: 19,809,634 (GRCm38) Y10* probably null Het
Bmp2 T A 2: 133,554,646 (GRCm38) V74E possibly damaging Het
Ccdc78 C A 17: 25,786,677 (GRCm38) P21Q probably benign Het
Cluap1 T A 16: 3,915,484 (GRCm38) V199E probably damaging Het
Cntnap3 T C 13: 64,746,738 (GRCm38) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm38) W1330R unknown Het
Coq4 A G 2: 29,795,514 (GRCm38) probably null Het
Cwf19l1 G A 19: 44,120,877 (GRCm38) T346I possibly damaging Het
Cyct T C 2: 76,354,203 (GRCm38) Y68C probably damaging Het
Dnah10 T C 5: 124,793,913 (GRCm38) L2368P probably benign Het
Dnah2 A T 11: 69,437,242 (GRCm38) F3346I probably damaging Het
Dpp3 A T 19: 4,918,267 (GRCm38) V259E probably damaging Het
Dpyd A C 3: 119,064,951 (GRCm38) S605R probably damaging Het
Emc1 A G 4: 139,362,148 (GRCm38) E209G probably damaging Het
Esrra A G 19: 6,920,207 (GRCm38) S61P probably benign Het
Fam71d C A 12: 78,715,075 (GRCm38) P171H probably damaging Het
Gbx2 T A 1: 89,933,122 (GRCm38) probably benign Het
Hepacam A G 9: 37,384,684 (GRCm38) H377R probably damaging Het
Igkv12-46 T C 6: 69,764,550 (GRCm38) Y107C probably damaging Het
Intu A G 3: 40,675,308 (GRCm38) D356G probably damaging Het
Izumo4 A T 10: 80,703,220 (GRCm38) N113Y probably damaging Het
Krt86 G A 15: 101,473,593 (GRCm38) A15T probably benign Het
Lhx8 A T 3: 154,311,679 (GRCm38) S275R probably damaging Het
Lingo3 A T 10: 80,835,530 (GRCm38) S189T probably damaging Het
Llgl1 T A 11: 60,710,342 (GRCm38) M702K probably benign Het
Lpin1 T C 12: 16,573,714 (GRCm38) Y223C Het
Lrit3 G T 3: 129,788,898 (GRCm38) A359E probably benign Het
Lrp2 T C 2: 69,499,263 (GRCm38) E1720G probably benign Het
Mcub A C 3: 129,916,970 (GRCm38) V271G probably benign Het
Nktr C T 9: 121,748,489 (GRCm38) probably benign Het
Olfr1342 T A 4: 118,689,870 (GRCm38) D194V probably damaging Het
Olfr1502 G A 19: 13,862,576 (GRCm38) R261H probably damaging Het
Olfr347 A T 2: 36,734,621 (GRCm38) Q100L probably damaging Het
Olfr617 T A 7: 103,584,531 (GRCm38) Y170N probably benign Het
Olfr979 A T 9: 40,000,621 (GRCm38) I202N possibly damaging Het
Olfr984 A T 9: 40,101,244 (GRCm38) L82Q probably damaging Het
Pcdha4 T C 18: 36,954,822 (GRCm38) V686A probably benign Het
Pelo A G 13: 115,089,873 (GRCm38) V16A possibly damaging Het
Plcd1 A G 9: 119,073,832 (GRCm38) S539P probably benign Het
Prss1 A G 6: 41,463,265 (GRCm38) I179V possibly damaging Het
Ptgs2 T C 1: 150,105,555 (GRCm38) Y530H probably damaging Het
Rai1 T C 11: 60,189,859 (GRCm38) V1583A probably damaging Het
Raph1 T G 1: 60,498,473 (GRCm38) D508A probably damaging Het
Rmnd5a A G 6: 71,394,619 (GRCm38) probably benign Het
Rsf1 T C 7: 97,662,121 (GRCm38) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm38) I1323M possibly damaging Het
Scn1a T C 2: 66,273,081 (GRCm38) N1934S probably benign Het
Sec23ip C T 7: 128,750,427 (GRCm38) H176Y probably benign Het
Sh3glb2 A G 2: 30,354,851 (GRCm38) probably null Het
Sis A G 3: 72,914,576 (GRCm38) I1384T possibly damaging Het
Spata31d1a A C 13: 59,702,618 (GRCm38) C565W probably damaging Het
Srbd1 T A 17: 86,127,801 (GRCm38) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm38) H345R unknown Het
Suox A T 10: 128,671,825 (GRCm38) D111E probably damaging Het
Taar7a A T 10: 23,992,828 (GRCm38) F218L probably benign Het
Tfcp2l1 C A 1: 118,664,762 (GRCm38) N288K possibly damaging Het
Tmem128 G T 5: 38,260,421 (GRCm38) R7L possibly damaging Het
Tmem266 A G 9: 55,437,566 (GRCm38) N494S probably damaging Het
Tmprss3 T A 17: 31,193,992 (GRCm38) H80L probably benign Het
Tnrc6c C T 11: 117,749,271 (GRCm38) Q1211* probably null Het
Tns1 T A 1: 73,920,596 (GRCm38) D1671V possibly damaging Het
Trmt1l T A 1: 151,435,704 (GRCm38) probably benign Het
Tshz2 A T 2: 169,884,342 (GRCm38) D286V probably damaging Het
Ttyh2 A G 11: 114,675,659 (GRCm38) E39G probably benign Het
Vmn2r125 G A 4: 156,350,138 (GRCm38) C73Y probably damaging Het
Vmn2r5 T C 3: 64,504,076 (GRCm38) D357G probably damaging Het
Vmn2r61 T C 7: 42,300,487 (GRCm38) F777S probably damaging Het
Vmn2r9 T C 5: 108,847,561 (GRCm38) E407G probably damaging Het
Vwa3a A G 7: 120,780,235 (GRCm38) N521S probably damaging Het
Zan C G 5: 137,391,762 (GRCm38) S4816T unknown Het
Zc3h7b T C 15: 81,771,858 (GRCm38) Y136H possibly damaging Het
Zfp101 T C 17: 33,381,321 (GRCm38) K487R possibly damaging 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
R4777:1110002E22Rik UTSW 3 138,065,742 (GRCm38) missense probably benign 0.09
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
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'- CAAGCAACTGGACTGGACAG -3'
(R):5'- CCACATACTTGGCTTCAGGC -3'

Sequencing Primer
(F):5'- CAACTGGACTGGACAGCTCAG -3'
(R):5'- GCTGACGGCTCAGGTAGTG -3'
Posted On 2016-10-26