Incidental Mutation 'R4780:1110002E22Rik'
ID 366395
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 041993-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R4780 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137771131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 107 (N107D)
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: N107D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: N107D

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (107/109)
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833413E03Rik A C 17: 31,777,738 (GRCm39) noncoding transcript Het
4931429L15Rik G T 9: 46,220,144 (GRCm39) H129Q possibly damaging Het
A730018C14Rik A G 12: 112,382,069 (GRCm39) noncoding transcript Het
Abcc6 T A 7: 45,646,115 (GRCm39) K791N probably benign Het
Adcy4 T G 14: 56,012,493 (GRCm39) Q550P probably benign Het
Add3 C A 19: 53,223,223 (GRCm39) A325E possibly damaging Het
Agbl4 T A 4: 111,514,528 (GRCm39) I513N possibly damaging Het
Agfg1 C A 1: 82,864,108 (GRCm39) T392K probably damaging Het
Akna C A 4: 63,297,491 (GRCm39) M854I probably benign Het
Ankrd44 T C 1: 54,802,916 (GRCm39) N194S probably benign Het
Anks1b A G 10: 89,709,594 (GRCm39) K21E probably damaging Het
Ap1s3 A G 1: 79,586,889 (GRCm39) F154L probably benign Het
Apbb2 T A 5: 66,520,160 (GRCm39) N477I probably damaging Het
Apobec3 T C 15: 79,783,225 (GRCm39) C101R possibly damaging Het
Arnt G T 3: 95,395,696 (GRCm39) V410F probably damaging Het
Arsg G A 11: 109,424,839 (GRCm39) R270H possibly damaging Het
B3gnt7 T A 1: 86,232,992 (GRCm39) D79E probably damaging Het
Cd44 G T 2: 102,691,910 (GRCm39) A126D probably damaging Het
Cd69 A G 6: 129,248,318 (GRCm39) I56T probably damaging Het
Cep120 G A 18: 53,857,608 (GRCm39) P286S probably benign Het
Ces2a T C 8: 105,463,840 (GRCm39) F184S probably damaging Het
Chrng A G 1: 87,135,246 (GRCm39) N185S probably damaging Het
Cldn6 A T 17: 23,900,221 (GRCm39) M62L probably benign Het
Cntn6 T A 6: 104,822,745 (GRCm39) N765K probably damaging Het
Cspg4b A G 13: 113,454,392 (GRCm39) Y146C probably damaging Het
Ctnnal1 T C 4: 56,847,857 (GRCm39) D94G probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Depdc1a A G 3: 159,232,343 (GRCm39) N698S probably benign Het
Dnah2 A T 11: 69,364,697 (GRCm39) I1986N probably damaging Het
Dnah7b A G 1: 46,392,174 (GRCm39) E3845G probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Dync1h1 T C 12: 110,627,630 (GRCm39) Y4047H probably damaging Het
E130308A19Rik C T 4: 59,691,057 (GRCm39) P297L probably benign Het
E2f5 A G 3: 14,652,379 (GRCm39) T72A probably benign Het
Ephb6 G T 6: 41,593,073 (GRCm39) R437L probably damaging Het
Erbb4 T C 1: 68,337,473 (GRCm39) H615R probably damaging Het
Erbin T C 13: 104,020,714 (GRCm39) T82A probably damaging Het
Eri2 T C 7: 119,384,903 (GRCm39) N533D probably benign Het
Fkbp9 A G 6: 56,827,701 (GRCm39) N174S probably damaging Het
Fsbp C T 4: 11,583,709 (GRCm39) T136I possibly damaging Het
Fubp3 C A 2: 31,473,223 (GRCm39) D47E probably damaging Het
Gm21850 G A 2: 153,898,419 (GRCm39) noncoding transcript Het
Gm5141 T A 13: 62,922,764 (GRCm39) Y135F unknown Het
Gm7353 T A 7: 3,160,725 (GRCm39) noncoding transcript Het
Gm9925 T C 18: 74,198,344 (GRCm39) probably benign Het
Greb1l T C 18: 10,541,792 (GRCm39) S1180P probably benign Het
H2ac11 G A 13: 22,227,079 (GRCm39) Q7* probably null Het
Ift70a2 A C 2: 75,807,920 (GRCm39) C197W probably benign Het
Kiz A G 2: 146,731,166 (GRCm39) T192A possibly damaging Het
Klhl24 T A 16: 19,925,708 (GRCm39) C79S probably damaging Het
Map3k11 A G 19: 5,740,966 (GRCm39) H231R probably damaging Het
Mbd4 C A 6: 115,826,345 (GRCm39) R194S probably benign Het
Mettl21e A C 1: 44,250,303 (GRCm39) S34R probably benign Het
Mrps5 T C 2: 127,440,161 (GRCm39) V245A probably benign Het
Mtrf1 T C 14: 79,639,128 (GRCm39) Y87H probably benign Het
Myh15 T C 16: 48,940,420 (GRCm39) I790T probably benign Het
Necab1 T G 4: 14,989,248 (GRCm39) I176L probably benign Het
Nfkb2 T A 19: 46,298,361 (GRCm39) L555Q probably damaging Het
Nhlrc3 T A 3: 53,365,988 (GRCm39) E168D probably benign Het
Nlrp5 T A 7: 23,135,203 (GRCm39) C949S probably damaging Het
Nup155 C A 15: 8,187,187 (GRCm39) A1372E probably benign Het
Nynrin G T 14: 56,100,720 (GRCm39) R170L probably damaging Het
Ogfrl1 T A 1: 23,409,402 (GRCm39) N275Y probably damaging Het
Olr1 A T 6: 129,465,839 (GRCm39) S56T probably damaging Het
Or4k52 A G 2: 111,611,190 (GRCm39) D175G probably damaging Het
Or5aq1 C T 2: 86,966,221 (GRCm39) S148N probably damaging Het
Or5b121 A G 19: 13,507,319 (GRCm39) N138S probably benign Het
Or8b48 A G 9: 38,493,265 (GRCm39) T231A possibly damaging Het
Ovol2 A T 2: 144,173,203 (GRCm39) probably benign Het
Pcdha6 A T 18: 37,102,906 (GRCm39) I700F probably damaging Het
Prkcz C T 4: 155,374,159 (GRCm39) V86M probably damaging Het
Ptpn13 A G 5: 103,734,639 (GRCm39) T2124A probably benign Het
Ranbp3 G T 17: 56,980,346 (GRCm39) probably benign Het
Rapgef2 A G 3: 79,077,076 (GRCm39) probably benign Het
Rbl1 A G 2: 157,016,724 (GRCm39) V625A probably benign Het
Rbm38 G T 2: 172,863,944 (GRCm39) G38C probably damaging Het
Reg1 T G 6: 78,403,333 (GRCm39) F7C possibly damaging Het
Retnlg A T 16: 48,694,697 (GRCm39) Q115L possibly damaging Het
Rhobtb1 G A 10: 69,105,983 (GRCm39) V183I probably benign Het
Rims1 T C 1: 22,361,329 (GRCm39) Q1186R probably damaging Het
Ryr1 A G 7: 28,794,522 (GRCm39) F1246L possibly damaging Het
Samm50 A G 15: 84,094,811 (GRCm39) N401S possibly damaging Het
Scn3a T A 2: 65,336,537 (GRCm39) I690F probably damaging Het
Sdk1 A G 5: 141,944,993 (GRCm39) D304G probably damaging Het
Skint6 T C 4: 113,093,594 (GRCm39) Y183C probably damaging Het
Slamf1 A T 1: 171,604,829 (GRCm39) T200S probably benign Het
Slc34a2 C T 5: 53,226,793 (GRCm39) R639C probably damaging Het
Smap1 A T 1: 23,892,517 (GRCm39) M149K probably benign Het
Sorcs1 T C 19: 50,132,419 (GRCm39) probably benign Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Spata13 G A 14: 60,991,356 (GRCm39) W366* probably null Het
Spata31e4 C A 13: 50,855,116 (GRCm39) S251R probably damaging Het
Strip1 G A 3: 107,534,314 (GRCm39) T136I probably benign Het
Tacr1 A T 6: 82,534,053 (GRCm39) T360S probably benign Het
Tbc1d14 T A 5: 36,728,600 (GRCm39) probably benign Het
Tcaf2 T C 6: 42,604,996 (GRCm39) Y596C probably damaging Het
Tspoap1 C T 11: 87,669,269 (GRCm39) T1454I possibly damaging Het
Ttn A T 2: 76,744,927 (GRCm39) M5374K probably benign Het
Uts2r G A 11: 121,051,705 (GRCm39) V190I possibly damaging Het
Vmn1r181 A G 7: 23,684,008 (GRCm39) T158A possibly damaging Het
Wdr35 A T 12: 9,068,150 (GRCm39) T778S probably benign Het
Xrn1 A T 9: 95,856,797 (GRCm39) probably benign Het
Zfp35 A T 18: 24,136,326 (GRCm39) K223N probably damaging Het
Zfp764 T C 7: 127,003,943 (GRCm39) Q396R probably benign Het
Zfyve1 T C 12: 83,605,421 (GRCm39) Y11C 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
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 PCR Primer
(F):5'- AAGCAACTGGACTGGACAGC -3'
(R):5'- TCCACATACTTGGCTTCAGGC -3'

Sequencing Primer
(F):5'- AACTGGACTGGACAGCTCAGC -3'
(R):5'- GCTGACGGCTCAGGTAGTG -3'
Posted On 2015-12-21