Incidental Mutation 'R8808:1110002E22Rik'
ID 672200
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 068644-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R8808 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137775874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1688 (P1688S)
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: P1688S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: P1688S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (60/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,887,919 (GRCm39) T174A probably benign Het
Actl10 T A 2: 154,395,068 (GRCm39) L340Q probably damaging Het
Adra1d T C 2: 131,403,397 (GRCm39) E231G probably damaging Het
Agt T A 8: 125,291,028 (GRCm39) D93V probably benign Het
Als2cl G T 9: 110,718,282 (GRCm39) R341L possibly damaging Het
Ankrd63 G T 2: 118,533,549 (GRCm39) A124E unknown Het
Aqp8 T C 7: 123,065,922 (GRCm39) L239P probably damaging Het
Arhgef11 A G 3: 87,593,336 (GRCm39) E85G probably damaging Het
Cacng4 T A 11: 107,685,209 (GRCm39) I28F possibly damaging Het
Cc2d1a T C 8: 84,861,599 (GRCm39) D741G probably damaging Het
Cct8l1 T A 5: 25,722,210 (GRCm39) N308K possibly damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Chrna5 T A 9: 54,905,348 (GRCm39) D53E probably benign Het
Dap3 A T 3: 88,835,514 (GRCm39) probably null Het
Disp2 A G 2: 118,620,489 (GRCm39) Y407C probably damaging Het
Dnah1 A G 14: 31,008,771 (GRCm39) M2001T probably benign Het
Dysf C G 6: 83,996,466 (GRCm39) probably benign Het
Eif2ak1 A T 5: 143,816,264 (GRCm39) K187N probably damaging Het
Ethe1 T C 7: 24,294,496 (GRCm39) S100P probably damaging Het
Fam186a G C 15: 99,842,604 (GRCm39) I1213M possibly damaging Het
Gbp9 A G 5: 105,232,875 (GRCm39) F259S probably damaging Het
Heatr5b G A 17: 79,072,834 (GRCm39) H1610Y possibly damaging Het
Hk2 T A 6: 82,705,747 (GRCm39) D852V probably benign Het
Hmcn1 T A 1: 150,531,570 (GRCm39) Q3233L possibly damaging Het
Htt T A 5: 35,046,791 (GRCm39) V2369E probably benign Het
Il9 C A 13: 56,629,942 (GRCm39) E35* probably null Het
Itga8 A T 2: 12,137,328 (GRCm39) C933* probably null Het
Jak3 A G 8: 72,138,164 (GRCm39) K872E possibly damaging Het
Kcnmb2 A C 3: 32,252,266 (GRCm39) M156L probably benign Het
Kdm4a C T 4: 117,999,480 (GRCm39) V981I unknown Het
Klhl38 A T 15: 58,178,225 (GRCm39) *582R probably null Het
Map3k19 A G 1: 127,751,866 (GRCm39) F495S probably damaging Het
Mpeg1 T A 19: 12,440,443 (GRCm39) W634R probably damaging Het
Mrpl4 T A 9: 20,918,978 (GRCm39) Y202N possibly damaging Het
Nme8 A G 13: 19,859,978 (GRCm39) V214A probably damaging Het
Or4k36 A T 2: 111,146,239 (GRCm39) R138S possibly damaging Het
Or8k33 G A 2: 86,384,297 (GRCm39) T57M probably damaging Het
Pcdhgb6 A G 18: 37,876,451 (GRCm39) I386M possibly damaging Het
Pitpnm1 T A 19: 4,162,356 (GRCm39) V1062E possibly damaging Het
Plekhm3 G A 1: 64,922,355 (GRCm39) R607W possibly damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Prap1 C A 7: 139,676,982 (GRCm39) H141Q probably damaging Het
Prep T A 10: 44,971,252 (GRCm39) Y187* probably null Het
Rergl T G 6: 139,478,865 (GRCm39) E3A probably benign Het
Rnf19a A T 15: 36,242,021 (GRCm39) S673T probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
St18 G A 1: 6,880,826 (GRCm39) E440K probably damaging Het
Syne1 T A 10: 5,309,074 (GRCm39) Q645L probably damaging Het
Tmcc1 C A 6: 116,111,099 (GRCm39) V61L Het
Tmcc1 A T 6: 116,111,098 (GRCm39) V61E Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem201 C A 4: 149,814,138 (GRCm39) R154L possibly damaging Het
Tmem71 G A 15: 66,410,655 (GRCm39) A239V possibly damaging Het
Tpgs2 A G 18: 25,284,275 (GRCm39) W78R probably damaging Het
Tssc4 T C 7: 142,623,436 (GRCm39) V22A unknown Het
Ttn T A 2: 76,723,128 (GRCm39) E6496D unknown Het
Ttn T A 2: 76,697,539 (GRCm39) L227F Het
Vps50 G T 6: 3,522,338 (GRCm39) G169* probably null Het
Yy1 CGGCGACCACGGCGGCGGCGGGGGCG CGGCG 12: 108,759,506 (GRCm39) probably benign Het
Zfp407 T C 18: 84,361,185 (GRCm39) K1703R probably benign Het
Zfp616 T G 11: 73,976,523 (GRCm39) C931G probably damaging Het
Zfp949 G A 9: 88,451,417 (GRCm39) C329Y probably damaging Het
Zswim5 T A 4: 116,822,887 (GRCm39) D452E probably benign 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
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
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'- AGATTGTTTGACCCCGAGACAG -3'
(R):5'- AGGTGATGCTGATGACAGGC -3'

Sequencing Primer
(F):5'- GGGCAATACGTGGATGTGCC -3'
(R):5'- ATGCTGATGACAGGCTTGCC -3'
Posted On 2021-04-30