Incidental Mutation 'R5374:1110002E22Rik'
ID 428921
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 042950-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R5374 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 138065052-138081506 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138067635 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 862 (S862G)
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: S862G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: S862G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (81/84)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,291,005 (GRCm38) probably benign Het
Adss2 T G 1: 177,796,388 (GRCm38) I3L probably benign Het
Anapc7 T A 5: 122,438,217 (GRCm38) D302E probably benign Het
Ank3 A G 10: 69,953,476 (GRCm38) probably null Het
Astn2 A C 4: 65,397,005 (GRCm38) V1145G probably damaging Het
Babam2 C T 5: 32,007,230 (GRCm38) probably benign Het
Blvrb A G 7: 27,465,846 (GRCm38) H238R possibly damaging Het
Cacna1b C T 2: 24,706,216 (GRCm38) V488I probably damaging Het
Ccdc88a C T 11: 29,463,409 (GRCm38) T649M possibly damaging Het
Cdh12 A C 15: 21,583,912 (GRCm38) S613R probably damaging Het
Cisd2 A G 3: 135,408,835 (GRCm38) V125A probably benign Het
Clcn2 C A 16: 20,709,669 (GRCm38) G478W possibly damaging Het
Cntnap2 T A 6: 47,107,969 (GRCm38) H1121Q probably benign Het
Corin A T 5: 72,304,953 (GRCm38) C876S probably damaging Het
Cox7c T C 13: 86,046,620 (GRCm38) Y19C probably benign Het
Cplane1 T C 15: 8,270,803 (GRCm38) V3198A unknown Het
Cspp1 T G 1: 10,134,126 (GRCm38) L1038R probably damaging Het
Cwc15 A G 9: 14,504,938 (GRCm38) K147E possibly damaging Het
Dlgap2 A G 8: 14,823,614 (GRCm38) D739G probably benign Het
Dmxl2 A G 9: 54,369,189 (GRCm38) probably benign Het
Dock5 A G 14: 67,805,756 (GRCm38) V864A possibly damaging Het
Dock7 A G 4: 98,989,038 (GRCm38) F1088L possibly damaging Het
Dpysl3 T C 18: 43,361,036 (GRCm38) Y193C probably damaging Het
Dtna T C 18: 23,651,613 (GRCm38) Y730H probably damaging Het
Dusp3 A G 11: 101,984,625 (GRCm38) Y38H possibly damaging Het
Eif3m A T 2: 105,012,932 (GRCm38) I151N probably damaging Het
Entpd2 C T 2: 25,399,726 (GRCm38) T380I probably damaging Het
Epb41l3 C A 17: 69,286,800 (GRCm38) H810N probably damaging Het
Fcrl5 A G 3: 87,446,391 (GRCm38) T348A probably benign Het
Ginm1 A G 10: 7,779,314 (GRCm38) S55P probably damaging Het
Glt1d1 C A 5: 127,657,084 (GRCm38) probably null Het
Gm15433 T A 1: 84,964,112 (GRCm38) noncoding transcript Het
Gm8221 A G 15: 77,626,152 (GRCm38) noncoding transcript Het
Gramd1c A G 16: 43,983,241 (GRCm38) V603A probably benign Het
Grm1 A G 10: 11,080,442 (GRCm38) S33P probably benign Het
Gstp3 T C 19: 4,057,922 (GRCm38) N137S possibly damaging Het
Kdm5d C T Y: 927,995 (GRCm38) P756S probably benign Het
Ly75 A T 2: 60,311,771 (GRCm38) L1332M possibly damaging Het
Med1 T A 11: 98,163,963 (GRCm38) K378N probably damaging Het
Mn1 A G 5: 111,421,886 (GRCm38) probably null Het
Mpo T C 11: 87,803,611 (GRCm38) probably null Het
Nom1 C G 5: 29,441,379 (GRCm38) R555G probably damaging Het
Nsmce4a C T 7: 130,538,170 (GRCm38) R276Q probably benign Het
Nt5c G A 11: 115,490,817 (GRCm38) probably null Het
Olfr908 CACAACAACA CACAACA 9: 38,516,138 (GRCm38) probably benign Het
Or52e18 G T 7: 104,959,996 (GRCm38) H245Q probably damaging Het
Or5p52 T C 7: 107,903,491 (GRCm38) I258T possibly damaging Het
Pcdhga4 T C 18: 37,685,596 (GRCm38) V66A probably damaging Het
Pik3c3 T C 18: 30,312,561 (GRCm38) S534P probably benign Het
Pla2g4e A T 2: 120,186,395 (GRCm38) C222S probably benign Het
Plch1 A C 3: 63,698,078 (GRCm38) H1468Q probably benign Het
Psd2 T A 18: 36,007,503 (GRCm38) W610R probably damaging Het
Ptgs1 A T 2: 36,251,186 (GRCm38) K548N probably damaging Het
Ptprz1 T A 6: 23,007,355 (GRCm38) V1639E probably damaging Het
Rangap1 A T 15: 81,706,494 (GRCm38) S466T probably benign Het
Rgsl1 C T 1: 153,790,307 (GRCm38) V986I probably benign Het
Rhobtb3 T C 13: 75,878,895 (GRCm38) Y453C probably damaging Het
Rspry1 C A 8: 94,654,264 (GRCm38) R399S probably benign Het
Rspry1 T C 8: 94,623,008 (GRCm38) V8A probably benign Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Rxfp2 A G 5: 150,070,260 (GRCm38) T596A probably benign Het
Sap18b G A 8: 95,825,370 (GRCm38) A3T unknown Het
Serpina3j A G 12: 104,314,727 (GRCm38) D53G probably damaging Het
Skint3 T A 4: 112,298,189 (GRCm38) D381E possibly damaging Het
Slirp T C 12: 87,449,422 (GRCm38) S96P possibly damaging Het
Snx6 T C 12: 54,770,728 (GRCm38) E128G probably damaging Het
Stap1 A G 5: 86,090,928 (GRCm38) T152A possibly damaging Het
Tcf20 A T 15: 82,851,957 (GRCm38) N1764K probably damaging Het
Thap2 A T 10: 115,372,839 (GRCm38) Y125* probably null Het
Ticrr T G 7: 79,690,942 (GRCm38) Y1031* probably null Het
Tnrc18 G A 5: 142,740,156 (GRCm38) R1793C unknown Het
Trpm3 C T 19: 22,926,184 (GRCm38) R945* probably null Het
Ugt1a10 T A 1: 88,055,910 (GRCm38) D143E probably damaging Het
Ush2a C T 1: 188,755,206 (GRCm38) T3057M probably benign Het
Zc3h6 A T 2: 129,002,156 (GRCm38) I207F possibly damaging Het
Zfp518a T C 19: 40,913,510 (GRCm38) S628P probably benign Het
Zup1 T C 10: 33,927,466 (GRCm38) N541D 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
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'- AGAAGAAGTCCAAATTCGCTTCC -3'
(R):5'- AAGATGCCCTTCACCGTCTC -3'

Sequencing Primer
(F):5'- TGCTCAAAAACGTCATCTCTAAG -3'
(R):5'- CACCGTCTCTGAAGCACTC -3'
Posted On 2016-09-06