Incidental Mutation 'R7278:1110002E22Rik'
ID 571529
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 045360-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R7278 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137771237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 142 (L142P)
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: L142P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: L142P

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: 99.0%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,241,126 (GRCm39) R996S possibly damaging Het
Abcb6 A G 1: 75,151,017 (GRCm39) F558L possibly damaging Het
Acp7 T A 7: 28,330,307 (GRCm39) D2V unknown Het
Acvr1c T C 2: 58,174,948 (GRCm39) D280G probably damaging Het
Atp8a1 A G 5: 67,781,380 (GRCm39) S1124P Het
B4galnt1 A T 10: 127,003,657 (GRCm39) T207S probably benign Het
C2cd4d C A 3: 94,271,445 (GRCm39) T237N probably benign Het
C8b T C 4: 104,637,824 (GRCm39) C99R probably damaging Het
Ccnk C A 12: 108,159,964 (GRCm39) Q149K possibly damaging Het
Chfr A G 5: 110,288,226 (GRCm39) D47G probably benign Het
Chid1 A T 7: 141,109,401 (GRCm39) probably null Het
Cibar2 T A 8: 120,895,342 (GRCm39) T187S possibly damaging Het
Cmya5 T A 13: 93,232,208 (GRCm39) E960V probably damaging Het
Col18a1 A G 10: 76,932,118 (GRCm39) S112P unknown Het
Cps1 G A 1: 67,210,080 (GRCm39) V637I probably damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Cyp2c54 A T 19: 40,058,697 (GRCm39) L245* probably null Het
Ddr2 G T 1: 169,812,530 (GRCm39) T654K probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Elavl4 C T 4: 110,068,622 (GRCm39) probably null Het
Emilin1 T C 5: 31,078,004 (GRCm39) V921A probably benign Het
Evpl T A 11: 116,113,939 (GRCm39) E1250D probably damaging Het
Fam228a C T 12: 4,782,790 (GRCm39) G101E probably benign Het
Gemin4 T C 11: 76,102,932 (GRCm39) T610A probably damaging Het
Glis1 T C 4: 107,292,880 (GRCm39) M1T probably null Het
Gm14399 C T 2: 174,972,252 (GRCm39) probably benign Het
Gorasp2 C T 2: 70,509,849 (GRCm39) T170I probably damaging Het
Gpr37 A G 6: 25,669,341 (GRCm39) V501A possibly damaging Het
Grik4 T A 9: 42,533,356 (GRCm39) Q388L probably benign Het
Hspg2 T A 4: 137,278,436 (GRCm39) D3035E probably damaging Het
Htr4 A T 18: 62,545,247 (GRCm39) N11Y probably benign Het
Itgb2l A G 16: 96,230,243 (GRCm39) S356P probably damaging Het
Klk1b22 A G 7: 43,764,173 (GRCm39) N34D probably benign Het
Lmcd1 A G 6: 112,287,500 (GRCm39) D62G possibly damaging Het
Lrp2 C T 2: 69,316,696 (GRCm39) G2095E probably damaging Het
Macf1 T A 4: 123,334,536 (GRCm39) E4407V possibly damaging Het
Mcm5 T C 8: 75,851,487 (GRCm39) F631L probably benign Het
Mov10l1 A G 15: 88,878,071 (GRCm39) S170G probably benign Het
Muc5b A T 7: 141,411,239 (GRCm39) D1395V unknown Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Myh15 A G 16: 48,911,468 (GRCm39) D300G probably damaging Het
Naa80 T C 9: 107,460,498 (GRCm39) L131P probably damaging Het
Ndst4 A G 3: 125,231,952 (GRCm39) T174A probably benign Het
Nek5 T A 8: 22,580,500 (GRCm39) N406I probably benign Het
Nr2c2 G A 6: 92,136,359 (GRCm39) V400I probably damaging Het
Or1l4 T C 2: 37,092,092 (GRCm39) Y280H probably damaging Het
Or1l4b G T 2: 37,037,021 (GRCm39) V266L probably benign Het
Or51aa2 A T 7: 103,187,935 (GRCm39) Y169N probably benign Het
Or52m1 T C 7: 102,290,190 (GRCm39) S246P probably damaging Het
Or6b1 G A 6: 42,811,330 (GRCm39) probably null Het
Or6c5c T A 10: 129,298,620 (GRCm39) I25N probably damaging Het
Parn T C 16: 13,443,927 (GRCm39) probably null Het
Pfkl T C 10: 77,827,857 (GRCm39) T468A probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Plce1 T C 19: 38,768,340 (GRCm39) I2205T possibly damaging Het
Prss16 A T 13: 22,187,317 (GRCm39) N442K probably damaging Het
Pus7 A G 5: 23,957,342 (GRCm39) S370P probably damaging Het
Ripk3 G T 14: 56,024,741 (GRCm39) Y210* probably null Het
Rps6ka2 C A 17: 7,539,034 (GRCm39) F317L probably damaging Het
Slc13a3 G A 2: 165,287,448 (GRCm39) R169W possibly damaging Het
Slc6a21 T A 7: 44,931,904 (GRCm39) I256N possibly damaging Het
Slc6a9 G A 4: 117,725,303 (GRCm39) R589Q probably benign Het
Slc8a2 T C 7: 15,875,077 (GRCm39) S442P probably damaging Het
Snupn T A 9: 56,890,028 (GRCm39) M283K probably damaging Het
Steap3 A T 1: 120,162,087 (GRCm39) M395K probably damaging Het
Sv2b G A 7: 74,797,402 (GRCm39) P331S probably damaging Het
Tlr1 A G 5: 65,084,115 (GRCm39) V154A probably benign Het
Tmem131 A G 1: 36,835,382 (GRCm39) S1580P probably damaging Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Trav14d-3-dv8 G A 14: 53,316,218 (GRCm39) R26H probably benign Het
Trp53 C T 11: 69,482,081 (GRCm39) L365F probably benign Het
Trp53bp1 A T 2: 121,029,516 (GRCm39) I1838N probably damaging Het
Ugt1a5 A T 1: 88,094,608 (GRCm39) K279* probably null Het
Unc80 A G 1: 66,591,368 (GRCm39) E1141G possibly damaging Het
Vti1b T C 12: 79,213,153 (GRCm39) D49G probably benign Het
Wnt10a A T 1: 74,832,641 (GRCm39) H78L possibly damaging Het
Zfp869 G A 8: 70,159,128 (GRCm39) H482Y probably damaging Het
Zfyve1 A G 12: 83,598,314 (GRCm39) V638A 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
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
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'- CAAGCAACTGGACTGGACAG -3'
(R):5'- CACACGTCTCCACATACTTGG -3'

Sequencing Primer
(F):5'- CAACTGGACTGGACAGCTCAG -3'
(R):5'- CCACATACTTGGCTTCAGGC -3'
Posted On 2019-09-13